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
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	0.318													3	37	---	---	---	---
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	0.582													78	157	---	---	---	---
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.5261A>G	c.(5260-5262)aAg>aGg	p.K1754R	MIA3_ENST00000344441.6_Splice_Site_p.K1754R|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Splice_Site_p.K632R	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	0.428													4	236	---	---	---	---
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	0.423													18	41	---	---	---	---
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	0.642													3	45	---	---	---	---
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_ENST00000409374.1_Silent_p.S115S|MRPL19_ENST00000358788.6_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	0.383													62	61	---	---	---	---
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	0.552													52	86	---	---	---	---
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	0.443													86	94	---	---	---	---
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	0.398													4	176	---	---	---	---
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_ENST00000396027.4_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000511817.1_Silent_p.R179R|XRCC4_ENST00000338635.6_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	0.313								Non-homologous end-joining					10	83	---	---	---	---
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	0.368													6	111	---	---	---	---
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_ENST00000540769.1_Missense_Mutation_p.S72C|C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C	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	0.343													15	81	---	---	---	---
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_ENST00000461219.1_3'UTR|SCAF8_ENST00000367178.3_5'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	0.726													3	17	---	---	---	---
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	0.557													3	54	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75192343	75192343	+	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.chr7:75192343C>A	ENST00000336926.6	-	11	942	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.E306*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	306					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGATATGTTCTGACAGGGCT	0.582			T	PDGFRB	CMML								4	156	---	---	---	---
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	0.627													5	86	---	---	---	---
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_ENST00000346498.2_Missense_Mutation_p.A266V|FBXO16_ENST00000518734.1_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	0.318													10	127	---	---	---	---
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	0.652													15	62	---	---	---	---
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_ENST00000223423.4_Missense_Mutation_p.S510N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N|PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|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	0.527													9	138	---	---	---	---
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	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	0.308			"""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	---	---	---	---
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	0.443													3	193	---	---	---	---
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.48C>A	c.(46-48)tgC>tgA	p.C16*	TRAFD1_ENST00000412615.2_Splice_Site_p.C16*	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	0.393													4	105	---	---	---	---
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	0.418													7	55	---	---	---	---
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	0.627													3	189	---	---	---	---
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	0.403													4	94	---	---	---	---
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	0.413													4	176	---	---	---	---
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			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	0.418													13	31	---	---	---	---
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_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	0.607													5	72	---	---	---	---
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	0.632													10	127	---	---	---	---
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	ENST00000262442.4	+	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		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	0.458													47	78	---	---	---	---
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	0.577			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			35	70	---	---	---	---
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	0.672													10	143	---	---	---	---
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.(889-894)tcttatfs	p.Y298fs	DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.Y90fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	298					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)cagfs	p.Q1718fs	NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.Q1718fs	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	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	---	---	---	---
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.(8836-8841)ttacatfs	p.H2947fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.H3164fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.H2911fs					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-7784-10A-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_10318delTGTA	c.(10315-10320)tatgta>tata	p.V3440fs	CSMD1_ENST00000542608.1_Splice_Site_p.V3262fs|CSMD1_ENST00000602557.1_Splice_Site_p.V3440fs|CSMD1_ENST00000537824.1_Splice_Site_p.V3439fs|CSMD1_ENST00000400186.3_Splice_Site_p.V3263fs|CSMD1_ENST00000602723.1_Splice_Site_p.V3263fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3440						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	---	---	---	---
