Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ATP10B	23120	broad.mit.edu	37	5	159992485	159992485	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:159992485C>T	ENST00000327245.5	-	26	5207	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTGGGATCGGCGATGGCT	0.532000													4	165					0	0	0.184627	0	0
IGSF10	285313	broad.mit.edu	37	3	151163868	151163868	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:151163868T>C	ENST00000282466.3	-	4	3900	c.3901A>G	c.(3901-3903)Att>Gtt	p.I1301V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1301					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCTTATAATACTAGGAAGC	0.443000													86	94					0	0	0.870114	0	0
PASK	23178	broad.mit.edu	37	2	242080067	242080067	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:242080067C>T	ENST00000403638.3	-	3	389	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.E100K|PASK_ENST00000234040.4_Missense_Mutation_p.E100K|PASK_ENST00000358649.4_Missense_Mutation_p.E100K	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	100					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.E100K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCCCGCGGTTCGGACGGGTCC	0.597000													8	78					0	0	0.335167	0	0
SUPT16H	11198	broad.mit.edu	37	14	21829070	21829070	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:21829070T>A	ENST00000216297.2	-	17	2329	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	664					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AATGTATAGATCTTTCAGTTT	0.418000													7	55					0	0	0.278610	0	0
CRY2	1408	broad.mit.edu	37	11	45869058	45869058	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:45869058C>G	ENST00000443527.2	+	1	102	c.80C>G	c.(79-81)gCg>gGg	p.A27G	CRY2_ENST00000417225.2_Intron|CRY2_ENST00000473199.1_3'UTR	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	6	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						gcgactgtggcgacggcggca	0.721000													4	10					0	0	0.184627	0	0
XRCC4	7518	broad.mit.edu	37	5	82499425	82499425	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:82499425G>T	ENST00000282268.3	+	5	712	c.537G>T	c.(535-537)cgG>cgT	p.R179R	XRCC4_ENST00000511817.1_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Silent_p.R179R	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	179					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTTATAAGCGGTTTATTCTGG	0.313000								Non-homologous end-joining					10	83					4.68919e-08	5.29817e-08	0.361761	1	0
FAM47A	158724	broad.mit.edu	37	X	34150304	34150304	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chrX:34150304G>A	ENST00000346193.3	-	1	143	c.92C>T	c.(91-93)gCg>gTg	p.A31V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	31										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTGCACTTCGCGAAGCACTT	0.612000													19	31					0	0	0.575678	0	0
ANKHD1	54882	broad.mit.edu	37	5	139887388	139887388	+	Silent	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:139887388T>A	ENST00000297183.6	+	20	3694	c.3570T>A	c.(3568-3570)ggT>ggA	p.G1190G	ANKHD1_ENST00000360839.2_Silent_p.G1190G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAACTAGGTATTTCTCCCC	0.368000													6	111					0	0	0.278610	0	0
DNAH9	1770	broad.mit.edu	37	17	11535997	11535997	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:11535997C>A	ENST00000262442.3	+	8	1680	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	538	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATGATGCACCTGGCTTGGA	0.458000													47	78					1.56989e-16	1.84569e-16	0.870114	1	0
ZDHHC16	84287	broad.mit.edu	37	10	99212187	99212187	+	Missense_Mutation	SNP	G	G	A	rs151287328		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr10:99212187G>A	ENST00000393760.1	+	5	803	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	ZDHHC16_ENST00000370854.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A152T|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A87T|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000495735.1_3'UTR	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	152					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GAATGATATCGCCACCGTCTC	0.532000													16	87					0	0	0.608945	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981681	61981681	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr20:61981681G>A	ENST00000370263.4	-	5	1303	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	361					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.P361L(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACCACGGACGGCCGCTTCAT	0.662000													3	47					0	0	0.115264	0	0
MECOM	2122	broad.mit.edu	37	3	168834358	168834358	+	Silent	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:168834358C>G	ENST00000464456.1	-	7	1938	c.738G>C	c.(736-738)gcG>gcC	p.A246A	MECOM_ENST00000494292.1_Silent_p.A434A|MECOM_ENST00000460814.1_Silent_p.A246A|MECOM_ENST00000433243.2_Silent_p.A247A|MECOM_ENST00000472280.1_Silent_p.A247A|MECOM_ENST00000392736.3_Silent_p.A246A|MECOM_ENST00000468789.1_Silent_p.A246A|MECOM_ENST00000264674.3_Silent_p.A311A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCCACCTGCCGCAAAATGGT	0.468000													12	159					0	0	0.411799	0	0
C6orf62	81688	broad.mit.edu	37	6	24714586	24714586	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:24714586G>C	ENST00000378119.4	-	3	2556	c.389C>G	c.(388-390)tCt>tGt	p.S130C	C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C|C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	130						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TTTCCACCTAGAAAACAGGAG	0.343000													15	81					0	0	0.539581	0	0
ITGA11	22801	broad.mit.edu	37	15	68620499	68620499	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:68620499C>A	ENST00000423218.2	-	16	2098	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	ITGA11_ENST00000315757.7_Missense_Mutation_p.C668F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	668					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.C668F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGCGGCCAGGCAGGTGGCATC	0.577000													5	68					4.096e-09	4.68884e-09	0.217242	1	0
DISP1	84976	broad.mit.edu	37	1	223163994	223163994	+	Silent	SNP	G	G	A	rs139326650		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:223163994G>A	ENST00000284476.6	+	4	731	c.567G>A	c.(565-567)ccG>ccA	p.P189P	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	189					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCGACTGGCCGGTGGTGGTCT	0.493000													4	188					0	0	0.184627	0	0
LRP10	26020	broad.mit.edu	37	14	23344794	23344794	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:23344794T>C	ENST00000359591.4	+	5	1328	c.637T>C	c.(637-639)Tca>Cca	p.S213P	LRP10_ENST00000546834.1_Missense_Mutation_p.S213P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	213	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACACCTAGCCTCAGTCTCCCA	0.627000													3	189					0	0	0.150653	0	0
CXCR2	3579	broad.mit.edu	37	2	218999837	218999837	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:218999837G>C	ENST00000318507.2	+	3	740	c.313G>C	c.(313-315)Gcc>Ccc	p.A105P		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCCCATCTGGGCCGCCTCCAA	0.552000													52	86					0	0	0.870114	0	0
PRG4	10216	broad.mit.edu	37	1	186276370	186276370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:186276370G>A	ENST00000445192.2	+	7	1564	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	PRG4_ENST00000367486.3_Missense_Mutation_p.A464T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A466T|PRG4_ENST00000367485.4_Missense_Mutation_p.A414T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	507	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.652000													4	124					0	0	0.150653	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212487	50212487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:50212487C>A	ENST00000284509.6	-	18	2020	c.1879G>T	c.(1879-1881)Gaa>Taa	p.E627*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	627					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCTATTCGTTCATCCCTCTCT	0.413000													4	176					0.014758	0.0158512	0.184627	1	0
SSPO	23145	broad.mit.edu	37	7	149489766	149489766	+	RNA	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:149489766G>A	ENST00000378016.2	+	0	5822							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AACAACCCCCGCCCCTCCGGC	0.697000													29	29					0	0	0.740014	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246363	100246363	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:100246363A>T	ENST00000160382.5	-	6	657	c.551T>A	c.(550-552)gTt>gAt	p.V184D		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	184					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGCTGCAGAACGTAGCCGTC	0.627000													5	86					0	0	0.248553	0	0
ATM	472	broad.mit.edu	37	11	108164131	108164131	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:108164131A>T	ENST00000278616.4	+	31	5088	c.4703A>T	c.(4702-4704)cAt>cTt	p.H1568L	ATM_ENST00000452508.2_Missense_Mutation_p.H1568L	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1568					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTCCTGACCATGTTGTTTTT	0.308000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			8	102					0	0	0.307466	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67859051	67859051	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:67859051G>T	ENST00000388833.3	+	7	905	c.528G>T	c.(526-528)ctG>ctT	p.L176L	TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000561639.1_Silent_p.L230L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	176					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGACCAAACTGAGGAAGAACT	0.607000													5	72					0.00116845	0.00128677	0.217242	1	0
MRPL19	9801	broad.mit.edu	37	2	75879653	75879653	+	Silent	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:75879653T>C	ENST00000393909.2	+	4	370	c.345T>C	c.(343-345)agT>agC	p.S115S	MRPL19_ENST00000358788.6_Silent_p.S115S|MRPL19_ENST00000409374.1_Silent_p.S115S	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	115					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						TTGTAGGAAGTATTCTTCGTG	0.383000													62	61					0	0	0.870114	0	0
MIA3	375056	broad.mit.edu	37	1	222835673	222835673	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:222835673A>G	ENST00000344922.5	+	26	5286	c.5262_splice	c.e26+1	p.K1754_splice	MIA3_ENST00000344441.6_Splice_Site_p.K1754_splice|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Splice_Site_p.K632_splice	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1754	Pro-rich.			K -> R (in Ref. 2; BAH12416).	exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GATGAAGGCAAGGTAAATGCA	0.428000													4	236					0	0	0.184627	0	0
MLF2	8079	broad.mit.edu	37	12	6858044	6858044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:6858044G>A	ENST00000203630.5	-	8	1308	c.664C>T	c.(664-666)Cga>Tga	p.R222*	MLF2_ENST00000539187.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000435120.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000542154.1_Nonsense_Mutation_p.R222*			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	222					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						TCCGCCCTTCGTCCCCCAGCC	0.711000													6	35					0	0	0.217242	0	0
OR5D16	390144	broad.mit.edu	37	11	55607137	55607137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:55607137C>T	ENST00000378396.1	+	1	910	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGATGCAATCCGAAAAATAAT	0.333000													8	38					0	0	0.335167	0	0
FAM74A3	0	broad.mit.edu	37	9	40716047	40716047	+	RNA	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:40716047G>A	ENST00000604146.1	+	0	386					NR_026801.1													p.V67M(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGGAGAAGACGTGGAAAGAGC	0.547000													20	37					0	0	0.706142	0	0
BUD13	84811	broad.mit.edu	37	11	116629027	116629027	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:116629027T>C	ENST00000260210.4	-	7	1480	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	BUD13_ENST00000375445.3_Missense_Mutation_p.K352R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	486										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTCTGAGTCCTTTTCTGCTTT	0.443000													3	193					0	0	0.115264	0	0
FSTL1	11167	broad.mit.edu	37	3	120130764	120130764	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:120130764G>A	ENST00000295633.3	-	4	591	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	FSTL1_ENST00000424703.2_Silent_p.L44L	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	79	Kazal-like.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCTCGATGCAGTTCACAGTGG	0.493000													4	157					0	0	0.184627	0	0
ZAN	7455	broad.mit.edu	37	7	100350487	100350487	+	RNA	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:100350487C>T	ENST00000542585.1	+	0	2907				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACCCACCATCCCC	0.502000													5	129					0	0	0.217242	0	0
ZNF597	146434	broad.mit.edu	37	16	3487540	3487540	+	Splice_Site	SNP	T	T	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:3487540T>G	ENST00000301744.4	-	4	396		c.e4-2		LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CTTCCTCTCCTGTTGATAAAA	0.418000													13	31					0	0	0.457914	0	0
OTOP1	133060	broad.mit.edu	37	4	4199531	4199531	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:4199531C>T	ENST00000296358.4	-	5	1054	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	344					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGCCGACTCGCTCTTGGTC	0.577000													32	62					0	0	0.853193	0	0
TRAFD1	10906	broad.mit.edu	37	12	112572542	112572542	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:112572542C>A	ENST00000257604.5	+	3	665	c.47_splice	c.e3-1	p.C16_splice	TRAFD1_ENST00000412615.2_Splice_Site_p.C16_splice	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	16					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ATTTCCGTAGCAAAAAAGAAA	0.393000													4	105					0.00909568	0.00989155	0.150653	1	0
SOX11	6664	broad.mit.edu	37	2	5833182	5833182	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:5833182T>A	ENST00000322002.3	+	1	384	c.329T>A	c.(328-330)aTg>aAg	p.M110K		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	110					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTCAAGCACATGGCCGACTAC	0.642000													3	45					0	0	0.115264	0	0
RYR2	6262	broad.mit.edu	37	1	237754210	237754210	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:237754210G>T	ENST00000366574.2	+	31	4395	c.4078G>T	c.(4078-4080)Gac>Tac	p.D1360Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1360	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGATCGTGTTGACAAAGACAA	0.423000													18	41					2.35188e-11	2.72818e-11	0.539581	1	0
ZNF292	23036	broad.mit.edu	37	6	87966666	87966666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:87966666C>T	ENST00000369577.3	+	8	3362	c.3319C>T	c.(3319-3321)Cga>Tga	p.R1107*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R1102*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGATGTACTCGAACCTATAA	0.443000													5	47					0	0	0.184627	0	0
MMACHC	25974	broad.mit.edu	37	1	45974618	45974618	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:45974618G>A	ENST00000401061.4	+	4	860	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	194							cobalamin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGCCCTACTCGAAGGCTTCAA	0.562000													11	138					0	0	0.411799	0	0
PTGS1	5742	broad.mit.edu	37	9	125154663	125154663	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:125154663G>A	ENST00000362012.2	+	11	1645	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N	PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N|PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	547					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TGGAAGCCGAGCACATTTGGC	0.527000													9	138					0	0	0.387290	0	0
CDK12	51755	broad.mit.edu	37	17	37687433	37687433	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:37687433G>A	ENST00000447079.4	+	14	4370	c.4337G>A	c.(4336-4338)gGa>gAa	p.G1446E	CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1446					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTGGGGCCAGGAACCACTGGG	0.577000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			35	70					0	0	0.827153	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434835	1434835	+	Missense_Mutation	SNP	G	G	C	rs34263898		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:1434835G>C	ENST00000233078.4	+	12	1309	c.1148G>C	c.(1147-1149)gGc>gCc	p.G383A	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	383	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTcggggggcccccccgcc	0.706000													6	14					0	0	0.278610	0	0
WNT5A	7474	broad.mit.edu	37	3	55508372	55508372	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:55508372C>T	ENST00000474267.1	-	5	1198	c.677G>A	c.(676-678)gGc>gAc	p.G226D	WNT5A_ENST00000497027.1_Missense_Mutation_p.G211D|WNT5A_ENST00000264634.4_Missense_Mutation_p.G226D			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	226					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACCCTGCGGCCGGCCTCGTT	0.672000													7	46					0	0	0.335167	0	0
EFCAB7	84455	broad.mit.edu	37	1	64022884	64022884	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:64022884G>A	ENST00000371088.4	+	10	1560	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	438	EF-hand 3.						calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAAGTGGTGAGAAATGTGATG	0.318000													3	37					0	0	0.150653	0	0
PRB2	653247	broad.mit.edu	37	12	11546771	11546771	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:11546771G>C	ENST00000389362.4	-	3	276	c.241C>G	c.(241-243)Cca>Gca	p.P81A	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.P81A(1)|p.P60A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.612000													6	409					0	0	0.278610	0	0
UBR1	197131	broad.mit.edu	37	15	43242542	43242542	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:43242542C>G	ENST00000290650.4	-	46	5104	c.5026G>C	c.(5026-5028)Gtc>Ctc	p.V1676L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1676					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCAACCAGGACCACTCGGCAT	0.403000													4	94					0	0	0.217242	0	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													4	75					0	0	0.217242	0	0
SCAF8	22828	broad.mit.edu	37	6	155054985	155054985	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:155054985G>A	ENST00000367186.4	+	2	93	c.86G>A	c.(85-87)aGt>aAt	p.S29N	SCAF8_ENST00000367178.3_5'UTR|SCAF8_ENST00000417268.1_5'UTR|SCAF8_ENST00000461219.1_3'UTR			Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	0	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ACCCAGTGCAGTGGCCGCCGC	0.726000													3	17					0	0	0.150653	0	0
DUS3L	56931	broad.mit.edu	37	19	5788166	5788166	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:5788166G>A	ENST00000309061.7	-	5	1060	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	DUS3L_ENST00000320699.8_Missense_Mutation_p.R80W	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	322					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTGCAGATCCGTCGGAAGGGC	0.612000													7	51					0	0	0.307466	0	0
METTL14	57721	broad.mit.edu	37	4	119631282	119631282	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:119631282C>T	ENST00000388822.4	+	11	1363	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	METTL14_ENST00000506780.1_Missense_Mutation_p.S361L			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	399						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						CGACCAAAATCGCCTCCTCCC	0.458000													28	48					0	0	0.740014	0	0
GSTT1	2952	broad.mit.edu	37	22	24381723	24381723	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr22:24381723G>A	ENST00000248935.5	-	2	229	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GSTT1_ENST00000439996.2_Intron	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	59	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	TGAAGTCCCCGTCCTTCAAGG	0.562000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				4	114					0	0	0.150653	0	0
TSKS	60385	broad.mit.edu	37	19	50245231	50245231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:50245231G>A	ENST00000246801.3	-	9	1490	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.R270*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	470							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTCAGTGCTCGGTCCAGCAGC	0.612000													3	65					0	0	0.150653	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	129					0	0	0.217242	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	74					0	0	0.150653	0	0
MEFV	4210	broad.mit.edu	37	16	3306386	3306386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:3306386G>A	ENST00000219596.1	-	1	241	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	MEFV_ENST00000339854.4_Nonsense_Mutation_p.Q68*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000541159.1_Nonsense_Mutation_p.Q68*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	68	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	AGGGTGAGCTGCACGGCGTAC	0.657000													4	123					0	0	0.217242	0	0
OR10K1	391109	broad.mit.edu	37	1	158436009	158436009	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:158436009C>T	ENST00000289451.2	+	1	738	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CTCCTACATCCGCATCATCTC	0.478000													21	82					0	0	0.639603	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299282	186299282	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:186299282C>T	ENST00000439351.1	+	6	1508	c.579C>T	c.(577-579)tgC>tgT	p.C193C	DNAJB11_ENST00000265028.3_Silent_p.C193C			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	193					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGTGGTCTGCGACGAATGCC	0.502000													8	89					0	0	0.335167	0	0
FKBP9L	360132	broad.mit.edu	37	7	55752886	55752886	+	RNA	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:55752886G>A	ENST00000455909.1	-	0	677					NR_027340.1|NR_027342.1				FK506 binding protein 9-like									p.N77N(1)		endometrium(1)|kidney(1)|lung(3)	5						GGACTTCTCCGTTGCCATCCT	0.557000													3	54					0	0	0.115264	0	0
MED26	9441	broad.mit.edu	37	19	16688032	16688032	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:16688032G>T	ENST00000263390.3	-	3	871	c.609C>A	c.(607-609)ggC>ggA	p.G203G	CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	203					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGCCCTCTGGGCCTGCATGCC	0.672000													10	143					6.40141e-05	7.14004e-05	0.387290	1	0
FLNC	2318	broad.mit.edu	37	7	128475497	128475497	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:128475497G>A	ENST00000325888.8	+	2	731	c.470G>A	c.(469-471)cGc>cAc	p.R157H	FLNC_ENST00000346177.6_Missense_Mutation_p.R157H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	157	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGGATGCCCGCAAACAGACG	0.582000													4	162					0	0	0.150653	0	0
KPRP	448834	broad.mit.edu	37	1	152733398	152733398	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:152733398G>A	ENST00000368773.1	+	2	1392	c.1334G>A	c.(1333-1335)cGg>cAg	p.R445Q	KPRP_ENST00000606109.1_Missense_Mutation_p.R445Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	445	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAACACCGCGGCCAGTTCCC	0.582000													78	157					0	0	0.870114	0	0
TUSC5	286753	broad.mit.edu	37	17	1183623	1183623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:1183623G>A	ENST00000333813.3	+	1	667	c.328G>A	c.(328-330)Gtc>Atc	p.V110I		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	110					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGCCGTCGTCGCCTGCTT	0.632000													10	127					0	0	0.335167	0	0
DNAH1	25981	broad.mit.edu	37	3	52402841	52402841	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:52402841G>A	ENST00000420323.2	+	37	6111	c.5850G>A	c.(5848-5850)ccG>ccA	p.P1950P		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1950	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGATGGGCCGGTGGATGCCA	0.572000													4	241					0	0	0.150653	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617256	111617256	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:111617256T>C	ENST00000374667.3	-	1	1983	c.955A>G	c.(955-957)Aca>Gca	p.T319A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	319						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGCAGCTGTGAGCTCCGGG	0.652000													15	62					0	0	0.479597	0	0
FBXO16	157574	broad.mit.edu	37	8	28304698	28304698	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:28304698G>A	ENST00000380254.2	-	7	981	c.833C>T	c.(832-834)gCa>gTa	p.A278V	FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V|FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	278										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CATTGATTGTGCTTTTCTTAG	0.318000													10	127					0	0	0.411799	0	0
LPAR1	1902	broad.mit.edu	37	9	113704388	113704388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:113704388G>A	ENST00000374431.3	-	4	489	c.106C>T	c.(106-108)Cga>Tga	p.R36*	LPAR1_ENST00000538760.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.R36*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.R36*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	36					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTTCCACTTCGGTTATAAAAG	0.418000													4	108					0	0	0.217242	0	0
PACSIN1	0	broad.mit.edu	37	6	34498308	34498308	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:34498308G>A	ENST00000538621.1	+	8	1226	c.981G>A	c.(979-981)gcG>gcA	p.A327A	PACSIN1_ENST00000244458.2_Silent_p.A327A|PACSIN1_ENST00000374043.2_Silent_p.A285A	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	327					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGGCGCTGACCAATG	0.637000													3	25					0	0	0.115264	0	0
ENOPH1	58478	broad.mit.edu	37	4	83376002	83376002	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:83376002C>A	ENST00000273920.3	+	4	785	c.517C>A	c.(517-519)Ctt>Att	p.L173I	ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	173					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GGGAGATATTCTTGAGGTAGG	0.398000													4	176					0.150653	0.15984	0.150653	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	45					0	0	0.150653	0	0
RP11-419C5.2	0	broad.mit.edu	37	16	70011854	70011854	+	Missense_Mutation	SNP	T	T	C	rs145494569	by1000genomes	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:70011854T>C	ENST00000325845.7	-	26	2740	c.671A>G	c.(670-672)aAg>aGg	p.K224R	RP11-419C5.2_ENST00000525562.1_5'UTR|RP11-419C5.2_ENST00000532298.1_Intron|PDXDC2P_ENST00000531894.1_RNA																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						ACTGTGATGCTTGTAGGCAGC	0.522000													4	39					0	0	0.150653	0	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													4	75					0	0	0.217242	0	0
ATP10B	23120	broad.mit.edu	37	5	159992485	159992485	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr5:159992485C>T	ENST00000327245.5	-	26	5207	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTGGGATCGGCGATGGCT	0.532000													4	165					0	0	0.184627	0	0
ITGA11	22801	broad.mit.edu	37	15	68620499	68620499	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr15:68620499C>A	ENST00000423218.2	-	16	2098	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	ITGA11_ENST00000315757.7_Missense_Mutation_p.C668F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	668					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.C668F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGCGGCCAGGCAGGTGGCATC	0.577000													5	68					4.096e-09	4.6571e-09	0.217242	1	0
IGSF10	285313	broad.mit.edu	37	3	151163868	151163868	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:151163868T>C	ENST00000282466.3	-	4	3900	c.3901A>G	c.(3901-3903)Att>Gtt	p.I1301V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1301					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCTTATAATACTAGGAAGC	0.443000													86	94					0	0	0.870114	0	0
SCAF8	22828	broad.mit.edu	37	6	155054985	155054985	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:155054985G>A	ENST00000367186.4	+	2	93	c.86G>A	c.(85-87)aGt>aAt	p.S29N	SCAF8_ENST00000367178.3_5'UTR|SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000417268.1_5'UTR			Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	0	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ACCCAGTGCAGTGGCCGCCGC	0.726000													3	17					0	0	0.150653	0	0
MIA3	375056	broad.mit.edu	37	1	222835673	222835673	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:222835673A>G	ENST00000344922.5	+	26	5286	c.5262_splice	c.e26+1	p.K1754_splice	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Splice_Site_p.K1754_splice|MIA3_ENST00000340535.7_Splice_Site_p.K632_splice	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1754	Pro-rich.			K -> R (in Ref. 2; BAH12416).	exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GATGAAGGCAAGGTAAATGCA	0.428000													4	236					0	0	0.184627	0	0
TRAFD1	10906	broad.mit.edu	37	12	112572542	112572542	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr12:112572542C>A	ENST00000257604.5	+	3	665	c.47_splice	c.e3-1	p.C16_splice	TRAFD1_ENST00000412615.2_Splice_Site_p.C16_splice	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	16					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ATTTCCGTAGCAAAAAAGAAA	0.393000													4	105					0.00909568	0.00980443	0.150653	1	0
PASK	23178	broad.mit.edu	37	2	242080067	242080067	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:242080067C>T	ENST00000403638.3	-	3	389	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.E100K|PASK_ENST00000405260.1_Missense_Mutation_p.E100K|PASK_ENST00000358649.4_Missense_Mutation_p.E100K	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	100					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.E100K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCCCGCGGTTCGGACGGGTCC	0.597000													8	78					0	0	0.335167	0	0
CXCR2	3579	broad.mit.edu	37	2	218999837	218999837	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:218999837G>C	ENST00000318507.2	+	3	740	c.313G>C	c.(313-315)Gcc>Ccc	p.A105P		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCCCATCTGGGCCGCCTCCAA	0.552000													52	86					0	0	0.870114	0	0
SUPT16H	11198	broad.mit.edu	37	14	21829070	21829070	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr14:21829070T>A	ENST00000216297.2	-	17	2329	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	664					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AATGTATAGATCTTTCAGTTT	0.418000													7	55					0	0	0.278610	0	0
METTL14	57721	broad.mit.edu	37	4	119631282	119631282	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr4:119631282C>T	ENST00000388822.4	+	11	1363	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	METTL14_ENST00000506780.1_Missense_Mutation_p.S361L			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	399						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						CGACCAAAATCGCCTCCTCCC	0.458000													28	48					0	0	0.740014	0	0
DISP1	84976	broad.mit.edu	37	1	223163994	223163994	+	Silent	SNP	G	G	A	rs139326650		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:223163994G>A	ENST00000284476.6	+	4	731	c.567G>A	c.(565-567)ccG>ccA	p.P189P	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	189					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCGACTGGCCGGTGGTGGTCT	0.493000													4	188					0	0	0.184627	0	0
MLF2	8079	broad.mit.edu	37	12	6858044	6858044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr12:6858044G>A	ENST00000203630.5	-	8	1308	c.664C>T	c.(664-666)Cga>Tga	p.R222*	MLF2_ENST00000542154.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000435120.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000539187.1_Nonsense_Mutation_p.R222*			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	222					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						TCCGCCCTTCGTCCCCCAGCC	0.711000													6	35					0	0	0.217242	0	0
OR5D16	390144	broad.mit.edu	37	11	55607137	55607137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr11:55607137C>T	ENST00000378396.1	+	1	910	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGATGCAATCCGAAAAATAAT	0.333000													8	38					0	0	0.335167	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617256	111617256	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr9:111617256T>C	ENST00000374667.3	-	1	1983	c.955A>G	c.(955-957)Aca>Gca	p.T319A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	319						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGCAGCTGTGAGCTCCGGG	0.652000													15	62					0	0	0.479597	0	0
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597000													3	46					0	0	0.150653	0	0
CRY2	1408	broad.mit.edu	37	11	45869058	45869058	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr11:45869058C>G	ENST00000443527.2	+	1	102	c.80C>G	c.(79-81)gCg>gGg	p.A27G	CRY2_ENST00000417225.2_Intron|CRY2_ENST00000473199.1_3'UTR	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	6	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						gcgactgtggcgacggcggca	0.721000													4	10					0	0	0.184627	0	0
SOX11	6664	broad.mit.edu	37	2	5833182	5833182	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:5833182T>A	ENST00000322002.3	+	1	384	c.329T>A	c.(328-330)aTg>aAg	p.M110K		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	110					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTCAAGCACATGGCCGACTAC	0.642000													3	45					0	0	0.115264	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													4	76					0	0	0.184627	0	0
XRCC4	7518	broad.mit.edu	37	5	82499425	82499425	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr5:82499425G>T	ENST00000282268.3	+	5	712	c.537G>T	c.(535-537)cgG>cgT	p.R179R	XRCC4_ENST00000396027.4_Silent_p.R179R|XRCC4_ENST00000511817.1_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	179					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTTATAAGCGGTTTATTCTGG	0.313000								Non-homologous end-joining					10	83					4.68919e-08	5.2595e-08	0.361761	1	0
FAM47A	158724	broad.mit.edu	37	X	34150304	34150304	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chrX:34150304G>A	ENST00000346193.3	-	1	143	c.92C>T	c.(91-93)gCg>gTg	p.A31V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	31										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTGCACTTCGCGAAGCACTT	0.612000													19	31					0	0	0.575678	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	74					0	0	0.150653	0	0
DNAH9	1770	broad.mit.edu	37	17	11535997	11535997	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:11535997C>A	ENST00000262442.3	+	8	1680	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	538	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATGATGCACCTGGCTTGGA	0.458000													47	78					1.56989e-16	1.83523e-16	0.870114	1	0
BUD13	84811	broad.mit.edu	37	11	116629027	116629027	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr11:116629027T>C	ENST00000260210.4	-	7	1480	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	BUD13_ENST00000375445.3_Missense_Mutation_p.K352R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	486										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTCTGAGTCCTTTTCTGCTTT	0.443000													3	193					0	0	0.115264	0	0
MEFV	4210	broad.mit.edu	37	16	3306386	3306386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr16:3306386G>A	ENST00000219596.1	-	1	241	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	MEFV_ENST00000536379.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.Q68*|MEFV_ENST00000541159.1_Nonsense_Mutation_p.Q68*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	68	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	AGGGTGAGCTGCACGGCGTAC	0.657000													4	123					0	0	0.217242	0	0
FSTL1	11167	broad.mit.edu	37	3	120130764	120130764	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:120130764G>A	ENST00000295633.3	-	4	591	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	FSTL1_ENST00000424703.2_Silent_p.L44L	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	79	Kazal-like.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCTCGATGCAGTTCACAGTGG	0.493000													4	157					0	0	0.184627	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99212187	99212187	+	Missense_Mutation	SNP	G	G	A	rs151287328		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr10:99212187G>A	ENST00000393760.1	+	5	803	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A87T|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000495735.1_3'UTR	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	152					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GAATGATATCGCCACCGTCTC	0.532000													16	87					0	0	0.608945	0	0
OR10K1	391109	broad.mit.edu	37	1	158436009	158436009	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:158436009C>T	ENST00000289451.2	+	1	738	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CTCCTACATCCGCATCATCTC	0.478000													21	82					0	0	0.639603	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299282	186299282	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:186299282C>T	ENST00000439351.1	+	6	1508	c.579C>T	c.(577-579)tgC>tgT	p.C193C	DNAJB11_ENST00000265028.3_Silent_p.C193C			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	193					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGTGGTCTGCGACGAATGCC	0.502000													8	89					0	0	0.335167	0	0
ZNF597	146434	broad.mit.edu	37	16	3487540	3487540	+	Splice_Site	SNP	T	T	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr16:3487540T>G	ENST00000301744.4	-	4	396		c.e4-2		LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CTTCCTCTCCTGTTGATAAAA	0.418000													13	31					0	0	0.457914	0	0
ANKHD1	54882	broad.mit.edu	37	5	139887388	139887388	+	Silent	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr5:139887388T>A	ENST00000297183.6	+	20	3694	c.3570T>A	c.(3568-3570)ggT>ggA	p.G1190G	ANKHD1_ENST00000360839.2_Silent_p.G1190G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAACTAGGTATTTCTCCCC	0.368000													6	111					0	0	0.278610	0	0
FKBP9L	360132	broad.mit.edu	37	7	55752886	55752886	+	RNA	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr7:55752886G>A	ENST00000455909.1	-	0	677					NR_027340.1|NR_027342.1				FK506 binding protein 9-like									p.N77N(1)		endometrium(1)|kidney(1)|lung(3)	5						GGACTTCTCCGTTGCCATCCT	0.557000													3	54					0	0	0.115264	0	0
MED26	9441	broad.mit.edu	37	19	16688032	16688032	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr19:16688032G>T	ENST00000263390.3	-	3	871	c.609C>A	c.(607-609)ggC>ggA	p.G203G	CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	203					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGCCCTCTGGGCCTGCATGCC	0.672000													10	143					6.40141e-05	7.08423e-05	0.387290	1	0
FLNC	2318	broad.mit.edu	37	7	128475497	128475497	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr7:128475497G>A	ENST00000325888.8	+	2	731	c.470G>A	c.(469-471)cGc>cAc	p.R157H	FLNC_ENST00000346177.6_Missense_Mutation_p.R157H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	157	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGGATGCCCGCAAACAGACG	0.582000													4	162					0	0	0.150653	0	0
OTOP1	133060	broad.mit.edu	37	4	4199531	4199531	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr4:4199531C>T	ENST00000296358.4	-	5	1054	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	344					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGCCGACTCGCTCTTGGTC	0.577000													32	62					0	0	0.853193	0	0
OR2T12	127064	broad.mit.edu	37	1	248458842	248458842	+	Silent	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:248458842T>C	ENST00000317996.1	-	1	38	c.39A>G	c.(37-39)ctA>ctG	p.L13L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L13L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAAAGAGTCCTAGGAGAATAA	0.448000													5	190					0	0	0.248553	0	0
KPRP	448834	broad.mit.edu	37	1	152733398	152733398	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:152733398G>A	ENST00000368773.1	+	2	1392	c.1334G>A	c.(1333-1335)cGg>cAg	p.R445Q	KPRP_ENST00000606109.1_Missense_Mutation_p.R445Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	445	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAACACCGCGGCCAGTTCCC	0.582000													78	157					0	0	0.870114	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	45					0	0	0.150653	0	0
TUSC5	286753	broad.mit.edu	37	17	1183623	1183623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:1183623G>A	ENST00000333813.3	+	1	667	c.328G>A	c.(328-330)Gtc>Atc	p.V110I		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	110					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGCCGTCGTCGCCTGCTT	0.632000													10	127					0	0	0.335167	0	0
SSPO	23145	broad.mit.edu	37	7	149489766	149489766	+	RNA	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr7:149489766G>A	ENST00000378016.2	+	0	5822							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AACAACCCCCGCCCCTCCGGC	0.697000													29	29					0	0	0.740014	0	0
DUS3L	56931	broad.mit.edu	37	19	5788166	5788166	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr19:5788166G>A	ENST00000309061.7	-	5	1060	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	DUS3L_ENST00000320699.8_Missense_Mutation_p.R80W	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	322					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTGCAGATCCGTCGGAAGGGC	0.612000													7	51					0	0	0.307466	0	0
ZNF292	23036	broad.mit.edu	37	6	87966666	87966666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:87966666C>T	ENST00000369577.3	+	8	3362	c.3319C>T	c.(3319-3321)Cga>Tga	p.R1107*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R1102*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGATGTACTCGAACCTATAA	0.443000													5	47					0	0	0.184627	0	0
LRP10	26020	broad.mit.edu	37	14	23344794	23344794	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr14:23344794T>C	ENST00000359591.4	+	5	1328	c.637T>C	c.(637-639)Tca>Cca	p.S213P	LRP10_ENST00000546834.1_Missense_Mutation_p.S213P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	213	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACACCTAGCCTCAGTCTCCCA	0.627000													3	189					0	0	0.150653	0	0
MMACHC	25974	broad.mit.edu	37	1	45974618	45974618	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:45974618G>A	ENST00000401061.4	+	4	860	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	194							cobalamin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGCCCTACTCGAAGGCTTCAA	0.562000													11	138					0	0	0.411799	0	0
DNAH1	25981	broad.mit.edu	37	3	52402841	52402841	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:52402841G>A	ENST00000420323.2	+	37	6111	c.5850G>A	c.(5848-5850)ccG>ccA	p.P1950P		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1950	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGATGGGCCGGTGGATGCCA	0.572000													4	241					0	0	0.150653	0	0
PTGS1	5742	broad.mit.edu	37	9	125154663	125154663	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr9:125154663G>A	ENST00000362012.2	+	11	1645	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N	PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N|PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	547					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TGGAAGCCGAGCACATTTGGC	0.527000													9	138					0	0	0.387290	0	0
CDK12	51755	broad.mit.edu	37	17	37687433	37687433	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:37687433G>A	ENST00000447079.4	+	14	4370	c.4337G>A	c.(4336-4338)gGa>gAa	p.G1446E	CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1446					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTGGGGCCAGGAACCACTGGG	0.577000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			35	70					0	0	0.827153	0	0
FAM74A3	0	broad.mit.edu	37	9	40716047	40716047	+	RNA	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr9:40716047G>A	ENST00000604146.1	+	0	386					NR_026801.1													p.V67M(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGGAGAAGACGTGGAAAGAGC	0.547000													20	37					0	0	0.706142	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212487	50212487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr15:50212487C>A	ENST00000284509.6	-	18	2020	c.1879G>T	c.(1879-1881)Gaa>Taa	p.E627*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	627					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCTATTCGTTCATCCCTCTCT	0.413000													4	176					0.014758	0.015704	0.184627	1	0
RYR2	6262	broad.mit.edu	37	1	237754210	237754210	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:237754210G>T	ENST00000366574.2	+	31	4395	c.4078G>T	c.(4078-4080)Gac>Tac	p.D1360Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1360	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGATCGTGTTGACAAAGACAA	0.423000													18	41					2.35188e-11	2.7112e-11	0.539581	1	0
GSTT1	2952	broad.mit.edu	37	22	24381723	24381723	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr22:24381723G>A	ENST00000248935.5	-	2	229	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GSTT1_ENST00000439996.2_Intron	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	59	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	TGAAGTCCCCGTCCTTCAAGG	0.562000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				4	114					0	0	0.150653	0	0
MYH10	4628	broad.mit.edu	37	17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:8397110C>G	ENST00000360416.3	-	32	4288	c.4150G>C	c.(4150-4152)Gag>Cag	p.E1384Q	MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1353Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587000													3	64					0	0	0.150653	0	0
FBXO16	157574	broad.mit.edu	37	8	28304698	28304698	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr8:28304698G>A	ENST00000380254.2	-	7	981	c.833C>T	c.(832-834)gCa>gTa	p.A278V	FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V|FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	278										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CATTGATTGTGCTTTTCTTAG	0.318000													10	127					0	0	0.411799	0	0
C6orf62	81688	broad.mit.edu	37	6	24714586	24714586	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:24714586G>C	ENST00000378119.4	-	3	2556	c.389C>G	c.(388-390)tCt>tGt	p.S130C	C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C|C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	130						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TTTCCACCTAGAAAACAGGAG	0.343000													15	81					0	0	0.539581	0	0
MYLK4	340156	broad.mit.edu	37	6	2689172	2689172	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:2689172G>A	ENST00000274643.7	-	4	596	c.254C>T	c.(253-255)cCg>cTg	p.P85L	MYLK4_ENST00000268446.5_Missense_Mutation_p.P85L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	85							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AAATGGGGCCGGAGGAGCCGG	0.502000													4	148					0	0	0.184627	0	0
ATM	472	broad.mit.edu	37	11	108164131	108164131	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr11:108164131A>T	ENST00000278616.4	+	31	5088	c.4703A>T	c.(4702-4704)cAt>cTt	p.H1568L	ATM_ENST00000452508.2_Missense_Mutation_p.H1568L	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1568					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTCCTGACCATGTTGTTTTT	0.308000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			8	102					0	0	0.307466	0	0
LPAR1	1902	broad.mit.edu	37	9	113704388	113704388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr9:113704388G>A	ENST00000374431.3	-	4	489	c.106C>T	c.(106-108)Cga>Tga	p.R36*	LPAR1_ENST00000358883.4_Nonsense_Mutation_p.R36*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.R36*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	36					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTTCCACTTCGGTTATAAAAG	0.418000													4	108					0	0	0.217242	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981681	61981681	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr20:61981681G>A	ENST00000370263.4	-	5	1303	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	361					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.P361L(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACCACGGACGGCCGCTTCAT	0.662000													3	47					0	0	0.115264	0	0
EFCAB7	84455	broad.mit.edu	37	1	64022884	64022884	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:64022884G>A	ENST00000371088.4	+	10	1560	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	438	EF-hand 3.						calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAAGTGGTGAGAAATGTGATG	0.318000													3	37					0	0	0.150653	0	0
PACSIN1	0	broad.mit.edu	37	6	34498308	34498308	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:34498308G>A	ENST00000538621.1	+	8	1226	c.981G>A	c.(979-981)gcG>gcA	p.A327A	PACSIN1_ENST00000374043.2_Silent_p.A285A|PACSIN1_ENST00000244458.2_Silent_p.A327A	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	327					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGGCGCTGACCAATG	0.637000													3	25					0	0	0.115264	0	0
TSKS	60385	broad.mit.edu	37	19	50245231	50245231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr19:50245231G>A	ENST00000246801.3	-	9	1490	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.R270*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	470							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTCAGTGCTCGGTCCAGCAGC	0.612000													3	65					0	0	0.150653	0	0
MECOM	2122	broad.mit.edu	37	3	168834358	168834358	+	Silent	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:168834358C>G	ENST00000464456.1	-	7	1938	c.738G>C	c.(736-738)gcG>gcC	p.A246A	MECOM_ENST00000494292.1_Silent_p.A434A|MECOM_ENST00000433243.2_Silent_p.A247A|MECOM_ENST00000472280.1_Silent_p.A247A|MECOM_ENST00000460814.1_Silent_p.A246A|MECOM_ENST00000392736.3_Silent_p.A246A|MECOM_ENST00000468789.1_Silent_p.A246A|MECOM_ENST00000264674.3_Silent_p.A311A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCCACCTGCCGCAAAATGGT	0.468000													12	159					0	0	0.411799	0	0
WNT5A	7474	broad.mit.edu	37	3	55508372	55508372	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:55508372C>T	ENST00000474267.1	-	5	1198	c.677G>A	c.(676-678)gGc>gAc	p.G226D	WNT5A_ENST00000497027.1_Missense_Mutation_p.G211D|WNT5A_ENST00000264634.4_Missense_Mutation_p.G226D			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	226					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACCCTGCGGCCGGCCTCGTT	0.672000													7	46					0	0	0.335167	0	0
ENOPH1	58478	broad.mit.edu	37	4	83376002	83376002	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr4:83376002C>A	ENST00000273920.3	+	4	785	c.517C>A	c.(517-519)Ctt>Att	p.L173I	ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	173					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GGGAGATATTCTTGAGGTAGG	0.398000													4	176					0.150653	0.158281	0.150653	1	0
ACTL6B	51412	broad.mit.edu	37	7	100246363	100246363	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr7:100246363A>T	ENST00000160382.5	-	6	657	c.551T>A	c.(550-552)gTt>gAt	p.V184D		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	184					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGCTGCAGAACGTAGCCGTC	0.627000													5	86					0	0	0.248553	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67859051	67859051	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr16:67859051G>T	ENST00000388833.3	+	7	905	c.528G>T	c.(526-528)ctG>ctT	p.L176L	TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000561639.1_Silent_p.L230L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	176					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGACCAAACTGAGGAAGAACT	0.607000													5	72					0.00116845	0.00127607	0.217242	1	0
MRPL19	9801	broad.mit.edu	37	2	75879653	75879653	+	Silent	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:75879653T>C	ENST00000393909.2	+	4	370	c.345T>C	c.(343-345)agT>agC	p.S115S	MRPL19_ENST00000358788.6_Silent_p.S115S|MRPL19_ENST00000409374.1_Silent_p.S115S	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	115					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						TTGTAGGAAGTATTCTTCGTG	0.383000													62	61					0	0	0.870114	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													3	71					0	0	0.115264	0	0
UBR1	197131	broad.mit.edu	37	15	43242542	43242542	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr15:43242542C>G	ENST00000290650.4	-	46	5104	c.5026G>C	c.(5026-5028)Gtc>Ctc	p.V1676L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1676					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCAACCAGGACCACTCGGCAT	0.403000													4	94					0	0	0.217242	0	0
DNASE2B	58511	broad.mit.edu	37	1	84880355	84880356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:84880355_84880356insT	ENST00000370665.3	+	6	923_924	c.890_891insT	c.(889-891)ttafs	p.L297fs	DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.L89fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	297					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TCACGACACTCTTATTTCAGTT	0.406													18	54	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152521933	152521933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:152521933delG	ENST00000427231.2	-	42	5354	c.5152delC	c.(5152-5154)agfs	p.Q1718fs	NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.Q1718fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1718					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGGGGTGCTGGCGATACTTC	0.493													21	16	---	---	---	---					
PLA2R1	0	broad.mit.edu	37	2	160824131	160824132	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:160824131_160824132insT	ENST00000283243.7	-	20	3028_3029	c.2822_2823insA	c.(2821-2823)agtfs	p.S941fs	PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.S941fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	941					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGAGCCAAACCTTTTTTCGCTT	0.391													29	22	---	---	---	---					
TRAK1	22906	broad.mit.edu	37	3	42242450	42242450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:42242450delC	ENST00000327628.5	+	12	1731	c.1331delC	c.(1330-1332)acfs	p.T444fs	TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGCGTCAGCACCCCCCGGTCC	0.592													7	289	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149776147	149776149	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:149776147_149776149delAAG	ENST00000451292.1	+	25	4303_4305	c.4195_4197delAAG	c.(4195-4197)del	p.K1403del	TCOF1_ENST00000323668.7_In_Frame_Del_p.K1289del|TCOF1_ENST00000439160.2_In_Frame_Del_p.K1329del|TCOF1_ENST00000445265.2_In_Frame_Del_p.K1290del|TCOF1_ENST00000513346.1_In_Frame_Del_p.K1366del|TCOF1_ENST00000377797.3_In_Frame_Del_p.K1367del|TCOF1_ENST00000504761.2_In_Frame_Del_p.K1366del			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1366					skeletal system development	nucleolus	protein binding|transporter activity	p.K1362delK(1)|p.K1285delK(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGGAGCAAGAAGAAGAAGA	0.601													3	5	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38875871	38875872	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:38875871_38875872insA	ENST00000359357.3	+	62	9091_9092	c.8837_8838insA	c.(8836-8838)tcafs	p.S2946fs	DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.S2910fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.S3163fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAAGAACTTACATGTTGTTC	0.356													7	39	---	---	---	---					
MARCKS	4082	broad.mit.edu	37	6	114181209	114181210	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:114181209_114181210insA	ENST00000368635.4	+	2	834_835	c.453_454insA	c.(451-456)ccaaaafs	p.PK151fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	151					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		ACGAGACCCCGAAAAAAAAAAA	0.614													8	22	---	---	---	---					
PPP1R17	10842	broad.mit.edu	37	7	31735178	31735179	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:31735178_31735179insA	ENST00000342032.3	+	3	806_807	c.178_179insA	c.(178-180)aaafs	p.K60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	60					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											TGAGTCAGACCAAAAAAAACCA	0.436													7	335	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	2807750	2807753	+	Splice_Site	DEL	TACA	TACA	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:2807750_2807753delTACA	ENST00000520002.1	-	68	10872_10873	c.10317_splice	c.e68+1	p.Y3439_splice	CSMD1_ENST00000602723.1_Splice_Site_p.Y3262_splice|CSMD1_ENST00000400186.3_Splice_Site_p.Y3262_splice|CSMD1_ENST00000602557.1_Splice_Site_p.Y3439_splice|CSMD1_ENST00000542608.1_Splice_Site_p.Y3261_splice|CSMD1_ENST00000537824.1_Splice_Site_p.Y3438_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3439						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACATGTACTTACATAACCATCTA	0.441													11	151	---	---	---	---					
POU5F1B	5462	broad.mit.edu	37	8	128428147	128428147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:128428147delG	ENST00000465342.2	+	2	1193	c.36delG	c.(34-36)tcfs	p.S12fs	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Frame_Shift_Del_p.S12fs|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	12						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TCGCCTTCTCGCCCCCTCCAG	0.632													2	4	---	---	---	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)gctfs	p.A88fs	B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													8	148	---	---	---	---					
LATS2	26524	broad.mit.edu	37	13	21562482	21562483	+	In_Frame_Ins	INS	-	-	GGGGCG	rs56252009		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr13:21562482_21562483insGGGGCG	ENST00000382592.4	-	4	1841_1842	c.1436_1437insCGCCCC	c.(1435-1437)cgc>cCGCCCCgc	p.478_479insPP	LATS2_ENST00000542899.1_In_Frame_Ins_p.478_479insPP	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	478					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCTCCGCAgccggggcgggggc	0.787													6	5	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													4	7	---	---	---	---					
PDE8A	5151	broad.mit.edu	37	15	85525510	85525510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:85525510delG	ENST00000310298.4	+	2	369	c.117delG	c.(115-117)acfs	p.T39fs	PDE8A_ENST00000339708.5_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000557957.1_Intron|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.T39fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	39					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GCCAGAAGACGGCCGCCTTGC	0.766													2	4	---	---	---	---					
PKD1	5310	broad.mit.edu	37	16	2165391	2165391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:2165391delG	ENST00000262304.4	-	10	2293	c.2085delC	c.(2083-2085)ccfs	p.P695fs	PKD1_ENST00000423118.1_Frame_Shift_Del_p.P695fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	695					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGTACTGCGCGGGGGGCCCCG	0.677													2	4	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350702	50350704	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chrX:50350702_50350704delTCT	ENST00000376020.2	-	6	3463_3465	c.3438_3440delAGA	c.(3436-3441)gag>ga	p.EE1150del	SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1150del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1034del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1150	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcctcctcctcttcctcttcct	0.557													2	4	---	---	---	---					
DNASE2B	58511	broad.mit.edu	37	1	84880355	84880356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:84880355_84880356insT	ENST00000370665.3	+	6	923_924	c.890_891insT	c.(889-891)ttafs	p.L297fs	DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.L89fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	297					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TCACGACACTCTTATTTCAGTT	0.406													18	54	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152521933	152521933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:152521933delG	ENST00000397345.3	-	42	5354	c.5152delC	c.(5152-5154)agfs	p.Q1718fs	NEB_ENST00000427231.2_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1718					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGGGGTGCTGGCGATACTTC	0.493													21	16	---	---	---	---					
PLA2R1	0	broad.mit.edu	37	2	160824131	160824132	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:160824131_160824132insT	ENST00000283243.7	-	20	3028_3029	c.2822_2823insA	c.(2821-2823)agtfs	p.S941fs	PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.S941fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	941					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGAGCCAAACCTTTTTTCGCTT	0.391													29	22	---	---	---	---					
TRAK1	22906	broad.mit.edu	37	3	42242450	42242450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:42242450delC	ENST00000327628.5	+	12	1731	c.1331delC	c.(1330-1332)acfs	p.T444fs	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGCGTCAGCACCCCCCGGTCC	0.592													7	289	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149776147	149776149	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr5:149776147_149776149delAAG	ENST00000451292.1	+	25	4303_4305	c.4195_4197delAAG	c.(4195-4197)del	p.K1403del	TCOF1_ENST00000377797.3_In_Frame_Del_p.K1367del|TCOF1_ENST00000439160.2_In_Frame_Del_p.K1329del|TCOF1_ENST00000513346.1_In_Frame_Del_p.K1366del|TCOF1_ENST00000504761.2_In_Frame_Del_p.K1366del|TCOF1_ENST00000323668.7_In_Frame_Del_p.K1289del|TCOF1_ENST00000445265.2_In_Frame_Del_p.K1290del			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1366					skeletal system development	nucleolus	protein binding|transporter activity	p.K1362delK(1)|p.K1285delK(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGGAGCAAGAAGAAGAAGA	0.601													3	5	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38875871	38875872	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:38875871_38875872insA	ENST00000359357.3	+	62	9091_9092	c.8837_8838insA	c.(8836-8838)tcafs	p.S2946fs	DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.S2910fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.S3163fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAAGAACTTACATGTTGTTC	0.356													7	39	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	2807750	2807753	+	Splice_Site	DEL	TACA	TACA	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr8:2807750_2807753delTACA	ENST00000520002.1	-	68	10872_10873	c.10317_splice	c.e68+1	p.Y3439_splice	CSMD1_ENST00000542608.1_Splice_Site_p.Y3261_splice|CSMD1_ENST00000537824.1_Splice_Site_p.Y3438_splice|CSMD1_ENST00000400186.3_Splice_Site_p.Y3262_splice|CSMD1_ENST00000602723.1_Splice_Site_p.Y3262_splice|CSMD1_ENST00000602557.1_Splice_Site_p.Y3439_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3439						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACATGTACTTACATAACCATCTA	0.441													11	151	---	---	---	---					
POU5F1B	5462	broad.mit.edu	37	8	128428147	128428147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr8:128428147delG	ENST00000465342.2	+	2	1193	c.36delG	c.(34-36)tcfs	p.S12fs	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Frame_Shift_Del_p.S12fs			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	12						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TCGCCTTCTCGCCCCCTCCAG	0.632													2	4	---	---	---	---					
PDE8A	5151	broad.mit.edu	37	15	85525510	85525510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr15:85525510delG	ENST00000310298.4	+	2	369	c.117delG	c.(115-117)acfs	p.T39fs	PDE8A_ENST00000339708.5_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000557957.1_Intron|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.T39fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	39					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GCCAGAAGACGGCCGCCTTGC	0.766													2	4	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													3	5	---	---	---	---					
PKD1	5310	broad.mit.edu	37	16	2165391	2165391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr16:2165391delG	ENST00000262304.4	-	10	2293	c.2085delC	c.(2083-2085)ccfs	p.P695fs	PKD1_ENST00000423118.1_Frame_Shift_Del_p.P695fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	695					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGTACTGCGCGGGGGGCCCCG	0.677													2	4	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350702	50350704	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chrX:50350702_50350704delTCT	ENST00000376020.2	-	6	3463_3465	c.3438_3440delAGA	c.(3436-3441)gag>ga	p.EE1150del	SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1150del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1034del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1150	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcctcctcctcttcctcttcct	0.557													2	4	---	---	---	---