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
PCDHB14	56122	broad.mit.edu	37	5	140604418	140604418	+	Silent	SNP	C	C	T	rs113384000	byFrequency	TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr5:140604418C>T	ENST00000239449.4	+	1	1341	c.1341C>T	c.(1339-1341)aaC>aaT	p.N447N	PCDHB14_ENST00000515856.2_Silent_p.N294N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		447	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCACCT	0.577000													44	114					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149075869	149075869	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr4:149075869G>A	ENST00000355292.3	-	5	2572	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	NR3C2_ENST00000511528.1_Missense_Mutation_p.A737V|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Missense_Mutation_p.A733V|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Missense_Mutation_p.A733V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	733	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AGGTGTGAGCGCTCGTGAGAT	0.512000													21	76					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													4	162					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595315	140595315	+	Silent	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr5:140595315G>A	ENST00000341948.4	+	1	1807	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		540	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A540A(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCGCTGAGCAGCG	0.697000													18	43					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70231198	70231198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr7:70231198G>A	ENST00000342771.4	+	9	1888	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	AUTS2_ENST00000406775.2_Missense_Mutation_p.E523K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	523										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCTGCGGACCGAGTTCCATca	0.627000													17	43					0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231035453	231035453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr2:231035453G>A	ENST00000258381.6	-	18	1989	c.1912C>T	c.(1912-1914)Cag>Tag	p.Q638*	AC009950.2_ENST00000609120.1_RNA|SP110_ENST00000358662.4_Nonsense_Mutation_p.Q614*	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	614	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATTGCTTCCTGAAAGGGCTCA	0.488000													10	41					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416400	121416400	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr3:121416400C>T	ENST00000393667.3	-	13	3080	c.2970G>A	c.(2968-2970)aaG>aaA	p.K990K	GOLGB1_ENST00000340645.5_Silent_p.K985K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	985					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CATTTTCTTTCTTCAGAAGGT	0.383000													26	61					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49421858	49421858	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr12:49421858C>T	ENST00000301067.7	-	46	14448	c.14449G>A	c.(14449-14451)Gtg>Atg	p.V4817M		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGAACAGCACCTCATAGGAG	0.602000													10	31					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	225666	225666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr5:225666G>A	ENST00000264932.6	+	4	560	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	SDHA_ENST00000510361.1_Intron|SDHA_ENST00000504309.1_Missense_Mutation_p.A149T	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	149					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GGCCCCCGCCGCCGTGGTCGA	0.572000									Familial Paragangliomas				15	103					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148484180	148484180	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr7:148484180G>A	ENST00000325222.4	+	13	1726	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	CUL1_ENST00000409469.1_Missense_Mutation_p.D483N|CUL1_ENST00000602748.1_Missense_Mutation_p.D483N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	483					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.D483N(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGCAAGTGACGATGCCGAAGC	0.448000													14	51					0	0	1	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20386816	20386816	+	RNA	SNP	A	A	G			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr22:20386816A>G	ENST00000430523.3	-	0	1696					NR_003563.1																						GTTTTCTTGGAGACAGTGATG	0.597000													2	1					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36708231	36708231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr22:36708231C>A	ENST00000216181.5	-	14	1821	c.1591G>T	c.(1591-1593)Gag>Tag	p.E531*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	531	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AACCAGCACTCCTCGTCCAGC	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				26	34					2.48779e-11	2.8806e-11	1	1	0
FMN2	56776	broad.mit.edu	37	1	240255869	240255869	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:240255869G>T	ENST00000319653.9	+	1	690	c.460G>T	c.(460-462)Gtc>Ttc	p.V154F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	154					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGAGGCTAGGGTCGGGGGCCG	0.672000													4	15					0.00909568	0.0093507	1	1	0
TDRD9	122402	broad.mit.edu	37	14	104493042	104493042	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr14:104493042G>A	ENST00000409874.4	+	28	3096	c.3048G>A	c.(3046-3048)atG>atA	p.M1016I	TDRD9_ENST00000339063.5_Missense_Mutation_p.M1016I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1016					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTGCAAAATGAGACCATCAG	0.478000													12	49					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49062081	49062081	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chrX:49062081C>T	ENST00000376265.2	-	47	5759	c.5698G>A	c.(5698-5700)Gag>Aag	p.E1900K	CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1889K|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1835K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1900					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CTCACAGCCTCCACCAAGCTG	0.622000													10	15					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529288	13529288	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr12:13529288G>T	ENST00000318426.2	-	2	269	c.52C>A	c.(52-54)Cct>Act	p.P18T	C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000539026.1_Missense_Mutation_p.P18T|C12orf36_ENST00000532841.1_Missense_Mutation_p.P18T|C12orf36_ENST00000527705.2_Missense_Mutation_p.P18T					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		taaaaggcagggtgggaacag	0.433000													3	11					0.115264	0.117399	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													5	96					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83776081	83776081	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr4:83776081C>T	ENST00000432794.1	-	17	2146	c.1983G>A	c.(1981-1983)aaG>aaA	p.K661K	SEC31A_ENST00000509142.1_Silent_p.K661K|SEC31A_ENST00000326950.5_Silent_p.K622K|SEC31A_ENST00000508502.1_Silent_p.K661K|SEC31A_ENST00000500777.2_Silent_p.K622K|SEC31A_ENST00000264405.5_Silent_p.K394K|SEC31A_ENST00000448323.1_Silent_p.K661K|SEC31A_ENST00000508479.1_Silent_p.K661K|SEC31A_ENST00000513858.1_Silent_p.K622K|SEC31A_ENST00000311785.7_Silent_p.K661K|SEC31A_ENST00000505472.1_Silent_p.K661K|SEC31A_ENST00000505984.1_Silent_p.K622K|SEC31A_ENST00000395310.2_Silent_p.K661K|SEC31A_ENST00000443462.2_Silent_p.K656K|SEC31A_ENST00000348405.4_Silent_p.K622K|SEC31A_ENST00000355196.2_Silent_p.K661K			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	661					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ATTCATCCGGCTTTGCATAAG	0.368000													15	48					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27430403	27430403	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr2:27430403G>C	ENST00000310574.3	-	3	589	c.116C>G	c.(115-117)tCt>tGt	p.S39C	SLC5A6_ENST00000408041.1_Missense_Mutation_p.S39C	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	39					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AATGGCAAGAGAGAGAACCAG	0.592000													10	40					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175306	51175306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr16:51175306C>T	ENST00000440970.1	-	2	967	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R276Q	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	276					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R276Q(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCAGATGTTCGTAAAGTACC	0.502000													21	54					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30051646	30051646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr22:30051646G>T	ENST00000338641.4	+	6	1021	c.580G>T	c.(580-582)Gag>Tag	p.E194*	NF2_ENST00000403999.3_Nonsense_Mutation_p.E194*|NF2_ENST00000397789.3_Nonsense_Mutation_p.E194*|NF2_ENST00000353887.4_Nonsense_Mutation_p.E111*|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Nonsense_Mutation_p.E194*|NF2_ENST00000361676.4_Nonsense_Mutation_p.E152*|NF2_ENST00000361166.4_Nonsense_Mutation_p.E194*|NF2_ENST00000334961.7_Nonsense_Mutation_p.E111*|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Nonsense_Mutation_p.E153*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	194	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.W191fs*9(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTGGTACGCAGAGCACCGAGG	0.398000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				13	25					2.62699e-14	3.10719e-14	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91772199	91772199	+	Silent	SNP	G	G	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr14:91772199G>T	ENST00000389857.6	-	19	3353	c.3267C>A	c.(3265-3267)acC>acA	p.T1089T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1089					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGCTGCTGAAGGTCACGTTCT	0.577000													3	56					1	1	1	1	0
POU4F2	5458	broad.mit.edu	37	4	147561758	147561758	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr4:147561758C>T	ENST00000281321.3	+	2	1276	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	343					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TTCAATGGCGCGGAGAAGAAG	0.587000													40	85					0	0	1	0	0
SLC46A1	113235	broad.mit.edu	37	17	26732177	26732177	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr17:26732177G>A	ENST00000440501.1	-	2	633	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.R180W	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	180					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	AGGGCCATCCGGAAGGTGCGG	0.667000													6	10					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169995846	169995846	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr2:169995846C>T	ENST00000263816.3	-	74	13588	c.13303G>A	c.(13303-13305)Gtc>Atc	p.V4435I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4435					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAATTACGACGATCAAGAGG	0.507000													8	27					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45490649	45490649	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr19:45490649G>A	ENST00000541297.2	+	8	1429	c.964G>A	c.(964-966)Gag>Aag	p.E322K	CLPTM1_ENST00000337392.5_Missense_Mutation_p.E336K|CLPTM1_ENST00000546079.1_Missense_Mutation_p.E234K			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	336					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGAGTTGTACGAGCAGTCAGA	0.627000													8	24					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72964950	72964950	+	Silent	SNP	C	C	T	rs148317110	byFrequency	TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr8:72964950C>T	ENST00000262209.4	-	14	1902	c.1695G>A	c.(1693-1695)gcG>gcA	p.A565A	RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	565						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TCAGAAGAAGCGCAACGGCTT	0.473000													20	105					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379931	379931	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr11:379931G>A	ENST00000329962.6	+	16	2554	c.2554G>A	c.(2554-2556)Ggg>Agg	p.G852R		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	852						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCGCGCACCGGGGACTCGCG	0.687000													9	27					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985485	240985485	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr2:240985485C>A	ENST00000319423.4	-	1	4	c.5G>T	c.(4-6)aGt>aTt	p.S2I		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATTCTCCCCACTCATGCCTCT	0.607000													9	16					0.000274275	0.000287336	1	1	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656		TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr17:7577547C>T	ENST00000420246.2	-	7	866	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTTCATGCCGCCCATGCA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	24					0	0	1	0	0
GPR62	118442	broad.mit.edu	37	3	51990280	51990280	+	Silent	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr3:51990280G>A	ENST00000322241.4	+	1	951	c.612G>A	c.(610-612)ctG>ctA	p.L204L		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	204						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGCTGCCCTGAGGCCCCCAC	0.756000													3	12					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81598264	81598264	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr7:81598264C>T	ENST00000356860.3	-	29	2672	c.2334G>A	c.(2332-2334)tcG>tcA	p.S778S	CACNA2D1_ENST00000356253.5_Silent_p.S790S|CACNA2D1_ENST00000535308.1_Intron	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	790						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCATAATGCCCGATTCATAGG	0.274000													29	97					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32360315	32360315	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chrX:32360315C>T	ENST00000357033.4	-	41	6030	c.5824G>A	c.(5824-5826)Gca>Aca	p.A1942T	DMD_ENST00000378677.2_Missense_Mutation_p.A1938T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1942					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.A601T(1)|p.A1938T(1)|p.A1937T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTGCCATTGCGGCCCCATCC	0.493000													19	32					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67645084	67645084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr16:67645084C>T	ENST00000264010.4	+	3	793	c.349C>T	c.(349-351)Caa>Taa	p.Q117*	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	117					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TCAGCTTGTTCAAGTACCTGT	0.448000													30	52					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64939754	64939754	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr11:64939754C>T	ENST00000377185.2	+	4	378	c.296C>T	c.(295-297)gCc>gTc	p.A99V		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	99	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TTCCAGCGCGCCCACCTGAAG	0.602000													15	68					0	0	1	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760835	119760835	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chrX:119760835G>T	ENST00000304661.5	-	2	425	c.187C>A	c.(187-189)Ctc>Atc	p.L63I	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.L63I	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	63						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						CTCTTACTGAGCTCCATGCGC	0.418000													56	84					2.43277e-16	2.90875e-16	1	1	0
C4orf22	255119	broad.mit.edu	37	4	81256999	81256999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr4:81256999C>A	ENST00000358105.3	+	1	126	c.77C>A	c.(76-78)tCg>tAg	p.S26*	C4orf22_ENST00000508675.1_Nonsense_Mutation_p.S26*|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	26										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TTCCTGGACTCGCAGATCACT	0.587000											OREG0016247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	32					2.80697e-09	3.18317e-09	1	1	0
FREM2	341640	broad.mit.edu	37	13	39263225	39263225	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr13:39263225C>T	ENST00000280481.7	+	1	1960	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	582					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATCCTGCCCCTTTCCCTGAG	0.542000													21	28					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	900517	900517	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:900517C>T	ENST00000338591.3	+	12	1982	c.1875C>T	c.(1873-1875)ctC>ctT	p.L625L		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	625	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGAGCTGCTCAATTTCCCGC	0.637000													7	35					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123285716	123285716	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr12:123285716C>T	ENST00000253079.6	+	9	1367	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	CCDC62_ENST00000392441.4_Silent_p.V341V|CCDC62_ENST00000392440.2_Silent_p.V102V|CCDC62_ENST00000537566.1_Silent_p.V102V	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	341						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACCCAAAAGTCGATATTAAGA	0.368000													15	32					0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111430979	111430979	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr11:111430979C>T	ENST00000436913.2	+	6	887	c.486C>T	c.(484-486)ttC>ttT	p.F162F	LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000375614.2_Silent_p.F307F|LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000375615.3_Silent_p.F315F	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	315	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		ATATTTCATTCCGAGTGTGTT	0.498000													14	40					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46994901	46994901	+	Missense_Mutation	SNP	C	C	T	rs138764484		TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr4:46994901C>T	ENST00000264318.3	-	2	1131	c.149G>A	c.(148-150)cGc>cAc	p.R50H	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	50					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCCAGGATGCGGGTGAAATT	0.488000													25	49					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96185757	96185757	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chrX:96185757C>A	ENST00000324765.8	+	10	1351	c.1004C>A	c.(1003-1005)gCc>gAc	p.A335D	DIAPH2_ENST00000373049.4_Missense_Mutation_p.A335D|DIAPH2_ENST00000373054.4_Missense_Mutation_p.A331D|DIAPH2_ENST00000355827.4_Missense_Mutation_p.A335D|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A335D			O60879	DIAP2_HUMAN	diaphanous-related formin 2	335	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTTATAAATGCCCTTGTCACT	0.303000													8	49					1.06961e-07	1.18846e-07	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76022886	76022886	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr6:76022886G>A	ENST00000393004.2	-	5	2883	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S	FILIP1_ENST00000370020.1_Missense_Mutation_p.P789S|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.P888S			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	888										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTGTTCGGGGCCCTTTCTCC	0.537000													24	60					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85403941	85403941	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chrX:85403941T>A	ENST00000373131.1	+	1	480	c.317T>A	c.(316-318)tTg>tAg	p.L106*	DACH2_ENST00000373125.4_Nonsense_Mutation_p.L106*	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	106	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GTGGGAGGCTTGCACACTGTG	0.577000													13	44					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130513464	130513464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr9:130513464C>T	ENST00000314830.8	-	4	784	c.671G>A	c.(670-672)cGc>cAc	p.R224H	SH2D3C_ENST00000373274.3_Missense_Mutation_p.R64H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R156H|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R66H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R67H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	224	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCGGGGGATGCGGCCATGGTA	0.632000													23	39					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768661	57768661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr20:57768661G>A	ENST00000371030.2	+	1	2587	c.2587G>A	c.(2587-2589)Ggg>Agg	p.G863R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	863						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCGATCCCGGGGAGGTGCC	0.647000													119	25					0	0	1	0	0
F3	2152	broad.mit.edu	37	1	94997899	94997899	+	Silent	SNP	G	G	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:94997899G>T	ENST00000334047.7	-	5	892	c.729C>A	c.(727-729)ggC>ggA	p.G243G	F3_ENST00000370207.4_Intron	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	243					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CTTTCTCCTGGCCCATACACT	0.532000													14	53					3.52763e-06	3.88039e-06	1	1	0
MST1L	11223	broad.mit.edu	37	1	17085189	17085189	+	RNA	SNP	A	A	G			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:17085189A>G	ENST00000455405.2	-	0	87																		p.S428P(1)									TCCAGGATTGATGGCGGCTGG	0.572000													4	46					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10090710	10090710	+	Missense_Mutation	SNP	G	G	A	rs139403054	byFrequency	TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chrX:10090710G>A	ENST00000380861.4	+	12	2073	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	WWC3_ENST00000454666.1_Missense_Mutation_p.R561H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	561										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGGGCACGCCGCATCTCCGCA	0.522000													5	352					0	0	1	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238700	21238700	+	Missense_Mutation	SNP	G	G	A	rs141966055		TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr14:21238700G>A	ENST00000326783.3	+	2	489	c.391G>A	c.(391-393)Ggg>Agg	p.G131R		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	131					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TAGCATGGACGGGTATGTTGA	0.418000													20	47					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82901567	82901567	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr6:82901567C>T	ENST00000306270.7	-	24	3917	c.3368G>A	c.(3367-3369)aGa>aAa	p.R1123K	IBTK_ENST00000503631.1_Missense_Mutation_p.R922K|IBTK_ENST00000510291.1_Missense_Mutation_p.R1108K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1123					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CATGATAGTTCTGAGATCCAC	0.383000													9	24					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19740837	19740837	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr19:19740837C>T	ENST00000203556.4	-	21	2985	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	GMIP_ENST00000587238.1_Missense_Mutation_p.E924K|GMIP_ENST00000445806.2_Missense_Mutation_p.E921K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	950					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCACAGCCTCGCTGTCCAAT	0.637000													3	5					0	0	1	0	0
NDUFA1	4694	broad.mit.edu	37	X	119007290	119007290	+	Silent	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chrX:119007290G>A	ENST00000371437.4	+	2	551	c.126G>A	c.(124-126)ggG>ggA	p.G42G		NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	42					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5					NADH(DB00157)	CTCATTTTGGGTATCACTGGA	0.388000													26	79					0	0	1	0	0
DERL3	91319	broad.mit.edu	37	22	24177024	24177024	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr22:24177024G>A	ENST00000406855.3	-	7	728	c.710C>T	c.(709-711)gCa>gTa	p.A237V	DERL3_ENST00000464023.1_5'UTR|DERL3_ENST00000404056.1_3'UTR	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN	derlin 3	0					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						TCAGGAAGGTGCCGCGAGCTC	0.637000													5	23					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906195	12906195	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chrX:12906195G>A	ENST00000380659.3	+	3	2707	c.2568G>A	c.(2566-2568)atG>atA	p.M856I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	856					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TCATGGTGATGATGACAGCAA	0.413000													66	116					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263666	263666	+	Silent	SNP	C	C	T	rs111388956		TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr17:263666C>T	ENST00000360127.6	+	2	1048	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	374	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G344G(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACCCCG	0.687000													4	47					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105518013	105518013	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr14:105518013C>T	ENST00000329797.3	-	4	1372	c.461G>A	c.(460-462)cGc>cAc	p.R154H	GPR132_ENST00000392585.2_Missense_Mutation_p.R145H|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.R154H	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	154	Poly-Arg.				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CCTCCGGCGGCGGCGGCCCCG	0.607000													16	34					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27248813	27248813	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr17:27248813C>T	ENST00000577226.1	-	5	1075	c.729G>A	c.(727-729)agG>agA	p.R243R	PHF12_ENST00000332830.4_Silent_p.R243R|PHF12_ENST00000268756.3_Silent_p.R243R|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	243	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCTTTCTTCTCCTCTTGCTAG	0.423000													19	44					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22051148	22051148	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chrX:22051148G>A	ENST00000379374.4	+	1	590	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	PHEX_ENST00000537599.1_Missense_Mutation_p.V9M	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	9					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AGGGAGCAGCGTGGAGACTGG	0.542000													30	84					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13399556	13399556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr17:13399556C>G	ENST00000284110.1	-	2	1976	c.1179G>C	c.(1177-1179)aaG>aaC	p.K393N	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.K191N	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	393						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTGGTAGAACTTGAGGTTGA	0.478000													16	38					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96777896	96777896	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr14:96777896C>G	ENST00000359933.4	-	27	4866	c.3973G>C	c.(3973-3975)Gat>Cat	p.D1325H		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1325								p.D1325N(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCATCAGAATCAGACTTCACT	0.289000													28	62					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56397904	56397904	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr17:56397904C>T	ENST00000355701.3	-	11	2331	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	BZRAP1_ENST00000343736.4_Silent_p.V487V|BZRAP1_ENST00000268893.6_Silent_p.V427V	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	487						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGCAGCTGCACGGCTCCTT	0.602000													6	1					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135095290	135095290	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr7:135095290C>A	ENST00000428680.2	-	7	1075	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L	CNOT4_ENST00000541284.1_Missense_Mutation_p.V266L|CNOT4_ENST00000361528.4_Missense_Mutation_p.V266L|CNOT4_ENST00000356162.4_Missense_Mutation_p.V266L|CNOT4_ENST00000414802.1_Missense_Mutation_p.V266L|CNOT4_ENST00000451834.1_Missense_Mutation_p.V266L|CNOT4_ENST00000315544.5_Missense_Mutation_p.V266L|CNOT4_ENST00000423368.2_Missense_Mutation_p.V266L	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	266					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGTGGTGTCACTTTGTTCTTA	0.313000													19	49					1.01871e-10	1.16727e-10	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158624456	158624456	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:158624456C>A	ENST00000368147.4	-	21	3161	c.2981G>T	c.(2980-2982)cGa>cTa	p.R994L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R994L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTGACTTCTCGGGGGCTGCG	0.468000													12	31					0.000978159	0.00101507	1	1	0
ATG9B	285973	broad.mit.edu	37	7	150715787	150715787	+	Silent	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr7:150715787G>A	ENST00000605938.1	-	6	1713	c.1638C>T	c.(1636-1638)acC>acT	p.T546T	ATG9B_ENST00000377974.2_Silent_p.T546T|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Intron	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	546					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTCGTAGACGGTGAGCACAA	0.721000													9	26					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7722574	7722574	+	Silent	SNP	C	C	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr17:7722574C>A	ENST00000572933.1	+	72	12323	c.10863C>A	c.(10861-10863)ctC>ctA	p.L3621L	DNAH2_ENST00000389173.2_Silent_p.L3621L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3621					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTTCGTGCTCAATGATATGG	0.572000													3	59					6.4e-05	6.83495e-05	1	1	0
PABPC4	8761	broad.mit.edu	37	1	40029543	40029543	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:40029543G>A	ENST00000372857.3	-	11	2249	c.1457C>T	c.(1456-1458)gCc>gTc	p.A486V	PABPC4_ENST00000372858.3_Missense_Mutation_p.A502V|PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	486					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCCTTGCTGGGCGGCACCAGC	0.577000													10	36					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170034345	170034345	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr2:170034345A>G	ENST00000263816.3	-	53	10646	c.10361T>C	c.(10360-10362)aTc>aCc	p.I3454T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3454					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTACACATGGATGTCAAATGG	0.428000													59	161					0	0	1	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107749	26107749	+	Silent	SNP	T	T	C			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr6:26107749T>C	ENST00000338379.4	-	1	615	c.573A>G	c.(571-573)aaA>aaG	p.K191K		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	191					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						GTTGGGTCAATTTTGACTTCG	0.458000													49	95					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72040761	72040761	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr15:72040761G>T	ENST00000355327.3	+	14	2377	c.2243G>T	c.(2242-2244)tGc>tTc	p.C748F	THSD4_ENST00000357769.4_Splice_Site_p.C388F|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Splice_Site_p.C748F			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	748	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTGTTTCAGTGCTCGGTGCCC	0.572000													10	38					3.86212e-05	4.16503e-05	1	1	0
LOXL2	4017	broad.mit.edu	37	8	23159605	23159605	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr8:23159605G>A	ENST00000389131.3	-	12	2437	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	690	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ATGTCATGGCGGTACATGTCC	0.592000													14	10					0	0	1	0	0
RP11-640M9.2	0	broad.mit.edu	37	1	144598686	144598686	+	RNA	SNP	C	C	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:144598686C>A	ENST00000419820.1	+	0	614																											TTCCAGTGGACTCTCCGAGGT	0.577000													5	26					0.184627	0.186321	1	1	0
CACNA1D	776	broad.mit.edu	37	3	53796063	53796063	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr3:53796063C>T	ENST00000288139.4	+	31	4003	c.3885C>T	c.(3883-3885)ctC>ctT	p.L1295L	CACNA1D_ENST00000422281.2_Silent_p.L1275L|CACNA1D_ENST00000540742.1_Silent_p.L182L|CACNA1D_ENST00000350061.5_Silent_p.L1275L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTGACTCCCTCATCGTAATCG	0.557000													22	63					0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99521603	99521603	+	Silent	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr9:99521603G>A	ENST00000375231.1	-	6	2159	c.1509C>T	c.(1507-1509)ctC>ctT	p.L503L	ZNF510_ENST00000223428.4_Silent_p.L503L			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GATGATCTCTGAGGGTGGACT	0.413000													51	164					0	0	1	0	0
CDC123	8872	broad.mit.edu	37	10	12259407	12259407	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr10:12259407C>T	ENST00000281141.4	+	6	661	c.381C>T	c.(379-381)ctC>ctT	p.L127L	CDC123_ENST00000378900.2_Silent_p.L127L|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	127					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GTAAAACCCTCAGCGACATCT	0.383000													10	73					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	113					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140997237	140997237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr9:140997237G>A	ENST00000277549.5	+	38	5448	c.2879G>A	c.(2878-2880)tGc>tAc	p.C960Y	CACNA1B_ENST00000371363.1_Missense_Mutation_p.C1764Y|CACNA1B_ENST00000371365.2_Intron|CACNA1B_ENST00000371355.4_Missense_Mutation_p.C1767Y|CACNA1B_ENST00000277551.2_Missense_Mutation_p.C1766Y|CACNA1B_ENST00000371357.1_Missense_Mutation_p.C1765Y|CACNA1B_ENST00000371372.1_Missense_Mutation_p.C1766Y			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1766					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGGAAGAAATGCCCTGCTCGA	0.602000													29	53					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135421945	135421945	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr7:135421945C>A	ENST00000338588.3	-	2	344	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	FAM180A_ENST00000415751.1_Missense_Mutation_p.V27L|FAM180A_ENST00000435869.1_5'UTR	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	27						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GGGAAGAGCACAGCTGAAAGA	0.557000													7	12					5.18039e-06	5.64201e-06	1	1	0
PTPN1	5770	broad.mit.edu	37	20	49191065	49191065	+	Silent	SNP	A	A	G			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr20:49191065A>G	ENST00000371621.3	+	5	540	c.366A>G	c.(364-366)gcA>gcG	p.A122A	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Silent_p.A49A	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	122	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	TAAAATGCGCACAATACTGGC	0.363000													14	179					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148523	69148523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr16:69148523G>A	ENST00000306560.1	+	4	1172	c.1016G>A	c.(1015-1017)tGc>tAc	p.C339Y	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.C339Y	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	339					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CGCTCCAAGTGCCTCACAGAG	0.577000													9	38					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42602994	42602994	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr15:42602994T>C	ENST00000318010.8	+	10	1247	c.1007T>C	c.(1006-1008)cTg>cCg	p.L336P	GANC_ENST00000566442.1_Missense_Mutation_p.L336P	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	336					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GTTTTTCTGCTGACAGGACCT	0.453000													21	140					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23353159	23353159	+	Silent	SNP	A	A	G			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr7:23353159A>G	ENST00000258729.3	-	13	1865	c.1509T>C	c.(1507-1509)atT>atC	p.I503I		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	503	KH 4.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CTCCTTTTCCAATAACTCTGC	0.408000													12	100					0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44439565	44439565	+	Silent	SNP	C	C	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr20:44439565C>A	ENST00000372622.3	+	12	905	c.837C>A	c.(835-837)gcC>gcA	p.A279A		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	279						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				ACCTTGCGGCCAGTGATGATT	0.552000													7	11					0.000274275	0.000287336	1	1	0
ELTD1	64123	broad.mit.edu	37	1	79385933	79385933	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:79385933G>T	ENST00000370742.3	-	10	1459	c.1396C>A	c.(1396-1398)Ctt>Att	p.L466I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	466					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTACAGCAAAGATTTTTGTGA	0.333000													30	53					9.65021e-13	1.12928e-12	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70504819	70504819	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:70504819C>T	ENST00000310961.5	+	22	3631	c.3213C>T	c.(3211-3213)atC>atT	p.I1071I	LRRC7_ENST00000035383.5_Silent_p.I1066I|LRRC7_ENST00000415775.2_Silent_p.I350I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1066						centrosome|focal adhesion|nucleolus	protein binding	p.I1066I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCAAAAACATCGCCAAGGATT	0.468000													17	25					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95562699	95562699	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr14:95562699C>G	ENST00000526495.1	-	25	4849	c.4558G>C	c.(4558-4560)Gaa>Caa	p.E1520Q	DICER1_ENST00000527414.1_Missense_Mutation_p.E1520Q|DICER1_ENST00000541352.1_Missense_Mutation_p.E1520Q|DICER1_ENST00000343455.3_Missense_Mutation_p.E1520Q|DICER1_ENST00000393063.1_Missense_Mutation_p.E1520Q|DICER1_ENST00000556045.1_Missense_Mutation_p.E418Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1520					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAGTCATCTTCTTCAACAGCT	0.443000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				14	57					0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19633512	19633512	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr1:19633512C>T	ENST00000235835.3	-	5	793	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	258					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTAGGTCTCAGCCCAGCTA	0.582000													26	60					0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38172833	38172833	+	Silent	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr17:38172833G>A	ENST00000331769.2	+	3	603	c.387G>A	c.(385-387)ttG>ttA	p.L129L	CSF3_ENST00000394148.3_Silent_p.L100L|CSF3_ENST00000225474.2_Silent_p.L136L|CSF3_ENST00000577675.1_Silent_p.L93L|CSF3_ENST00000394149.3_Silent_p.L133L			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	136					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTCCCACCTTGGACACACTGC	0.632000													17	99					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	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													3	19					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50111995	50111995	+	RNA	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chrX:50111995G>A	ENST00000376025.2	-	0	3818							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCATCTTCACGATGTCTGCGG	0.423000													7	27					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681415	70681415	+	Silent	SNP	G	G	A			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr13:70681415G>A	ENST00000377844.4	-	1	1176	c.417C>T	c.(415-417)caC>caT	p.H139H	KLHL1_ENST00000545028.1_Silent_p.H7H|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	139					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCCCTTTTTCGTGTGGTCCAG	0.582000													25	56					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7766897	7766897	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr5:7766897C>T	ENST00000338316.4	+	17	2281	c.2192C>T	c.(2191-2193)gCg>gTg	p.A731V	ADCY2_ENST00000537121.1_Missense_Mutation_p.A551V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	731					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.A731V(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATTCTGCGTGCGCAGAATTTA	0.428000													53	405					0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85779777	85779778	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr11:85779777_85779778delTG	ENST00000526033.1	-	1	361_362	c.45_46delCA	c.(43-48)cacagtfs	p.HS15fs	PICALM_ENST00000528411.1_Splice_Site|PICALM_ENST00000532317.1_Frame_Shift_Del_p.HS15fs|PICALM_ENST00000356360.5_Frame_Shift_Del_p.HS15fs|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000393346.3_Frame_Shift_Del_p.HS15fs	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	15	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CCGGTGACACTGTGCTGGGCGG	0.644			T	"""MLLT10, MLL"""	"""TALL, AML, """								13	21	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48953757	48953759	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr13:48953757_48953759delTAC	ENST00000267163.4	+	14	1498_1500	c.1360_1362delTAC	c.(1360-1362)tacdel	p.Y454del		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	454	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.Y454*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCGCTTGTATTACCGAGTAATGG	0.350		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			14	12	---	---	---	---					
C16orf71	146562	broad.mit.edu	37	16	4796953	4796955	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr16:4796953_4796955delGAG	ENST00000299320.5	+	8	1685_1687	c.1207_1209delGAG	c.(1207-1209)gagdel	p.E409del	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	409								p.E403delE(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CTCTGACAGTGAGGAGGAGGAGG	0.611													3	4	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41568639	41568639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-AA6M-01A-11D-A391-08	TCGA-DK-AA6M-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb31b9bd-fa39-4368-aaa7-4a1c8373f60f	7561fada-5af6-41a2-883d-38ac844514c1	g.chr22:41568639delA	ENST00000263253.7	+	28	5808	c.4589delA	c.(4588-4590)gagfs	p.E1531fs	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1531					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAAAACGAGAGGAAAACACC	0.393			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				16	19	---	---	---	---