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
ESPNP	0	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	by1000genomes	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1																						GGAACATCACGTTGAAAGACT	0.622000													4	21					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521273	33521273	+	Silent	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr17:33521273C>T	ENST00000297307.5	-	1	139	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	18						integral to membrane											GAGCGGAGGGCGGCGATGGGT	0.667000													20	41					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76874351	76874351	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76874351C>A	ENST00000373344.5	-	21	5585	c.5371G>T	c.(5371-5373)Gat>Tat	p.D1791Y	ATRX_ENST00000395603.3_Missense_Mutation_p.D1753Y|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1791					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATGGTAGAATCTGCACACTGA	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						16	15					1.02788e-11	1.14469e-11	1	1	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000097	46000097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr21:46000097C>A	ENST00000400372.1	-	1	384	c.359G>T	c.(358-360)tGc>tTc	p.C120F	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	120	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AGAGGCACAGCAAGTTGGCTG	0.607000													4	151					1	1	1	1	0
DNM1P47	0	broad.mit.edu	37	15	102303075	102303075	+	RNA	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:102303075C>T	ENST00000561463.1	+	0	11121																											GTGGAGGAGTCGGCAGAGCAG	0.602000													6	0					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													5	39					0	0	1	0	0
PELO	53918	broad.mit.edu	37	5	52097257	52097257	+	Silent	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr5:52097257C>T	ENST00000274311.2	+	3	1726	c.741C>T	c.(739-741)tcC>tcT	p.S247S	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	247					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				ATGCCTCCTCCGGACACAAGT	0.468000													17	47					0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238040	69238040	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:69238040A>C	ENST00000310673.3	+	2	321	c.167A>C	c.(166-168)aAa>aCa	p.K56T	NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	56					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GGTCGTGAGAAAAAATCTAAC	0.378000													18	77					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40013106	40013106	+	Silent	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:40013106T>C	ENST00000308666.3	-	1	447	c.312A>G	c.(310-312)acA>acG	p.T104T		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	104	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGAGCCACCCTGTTTCAGTGG	0.423000													4	47					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22748921	22748921	+	RNA	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr4:22748921A>G	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTCCTAGGAATTGATTATTA	0.328000													3	83					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580584	580584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr18:580584C>T	ENST00000327228.3	+	1	218	c.176C>T	c.(175-177)gCg>gTg	p.A59V		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	59	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GCCATGAGAGCGCTGGGCTTC	0.552000													3	40					0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8729070	8729070	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr16:8729070C>A	ENST00000381920.3	+	5	859	c.601C>A	c.(601-603)Cag>Aag	p.Q201K	METTL22_ENST00000561758.1_Missense_Mutation_p.Q145K|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	201							methyltransferase activity			large_intestine(5)|lung(4)	9						CCTGTTCCGACAGGACCTCTT	0.637000													3	48					0.115264	0.117665	1	1	0
SLC28A2	9153	broad.mit.edu	37	15	45559992	45559992	+	Silent	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:45559992T>C	ENST00000347644.3	+	12	1262	c.1197T>C	c.(1195-1197)cgT>cgC	p.R399R	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	399					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGCTGCCCCGTGGGTGAGTCC	0.547000													4	123					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155465814	155465814	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr6:155465814T>C	ENST00000461783.3	+	8	2978	c.1705T>C	c.(1705-1707)Ttt>Ctt	p.F569L	TIAM2_ENST00000360366.4_Missense_Mutation_p.F569L|TIAM2_ENST00000529824.2_Missense_Mutation_p.F569L|TIAM2_ENST00000318981.5_Missense_Mutation_p.F569L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.F569L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	569	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTGTGCTCTGTTTGCAGAAGA	0.468000													6	60					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76938029G>A	ENST00000373344.5	-	9	2933	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)|p.R907*(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAGGAAGTCGATCTCTTAAT	0.418000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						15	104					0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115622	220115622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:220115622A>G	ENST00000392088.2	-	4	1309	c.754T>C	c.(754-756)Ttc>Ctc	p.F252L	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Missense_Mutation_p.F267L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	267					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCAGGGGGAAGTGGATGCGA	0.567000													3	72					0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77159228	77159228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr10:77159228G>A	ENST00000372524.4	-	2	1706	c.1220C>T	c.(1219-1221)cCg>cTg	p.P407L	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.P407L	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	407	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGAGCCGGCCGGCTTACTGCA	0.706000													5	4					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48188621	48188621	+	Silent	SNP	G	G	A	rs143888162	byFrequency	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:48188621G>A	ENST00000080059.7	-	12	1379	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	HDAC7_ENST00000427332.2_Silent_p.D421D|HDAC7_ENST00000380610.4_Silent_p.D477D|HDAC7_ENST00000354334.3_Silent_p.D423D|HDAC7_ENST00000552960.1_Silent_p.D443D	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	421	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCAGGCCATCGTCCACCACCT	0.692000													5	86					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr11:115080343G>T	ENST00000537058.1	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													4	38					0.00024832	0.000258887	1	1	0
ATRX	546	broad.mit.edu	37	X	76890194	76890194	+	Splice_Site	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76890194C>T	ENST00000373344.5	-	17	4914	c.4699_splice	c.e17-1	p.G1567_splice	ATRX_ENST00000395603.3_Splice_Site_p.G1529_splice|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1567					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAACTGAACACCTAAAAATAA	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						4	67					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								19	32					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119064	133119064	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr3:133119064C>A	ENST00000302334.2	+	1	226	c.137C>A	c.(136-138)gCc>gAc	p.A46D		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	46	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGGACCAATGCCATGAGTGGC	0.677000													22	48					2.32416e-17	2.64846e-17	1	1	0
C17orf70	80233	broad.mit.edu	37	17	79511038	79511038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr17:79511038G>A	ENST00000537152.1	-	7	2491	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	C17orf70_ENST00000425898.2_Missense_Mutation_p.R456C|C17orf70_ENST00000327787.8_Missense_Mutation_p.R807C	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	807					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACCTGCATGCGCCCGACAACG	0.642000													10	33					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20870144	20870144	+	Missense_Mutation	SNP	A	A	G	rs112098263		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:20870144A>G	ENST00000381552.1	+	7	1123	c.755A>G	c.(754-756)gAc>gGc	p.D252G	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D203G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D134G|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D252G|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.D252G			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	252					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTATATGTTGACATTGGCTTT	0.348000													7	58					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25440073	25440073	+	RNA	SNP	G	G	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:25440073G>T	ENST00000424208.1	+	0	1460				SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						GGGTTGGGTCGATGATGAGAA	0.527000													30	203					1.06801e-11	1.16295e-11	1	1	0
SPAST	6683	broad.mit.edu	37	2	32366971	32366971	+	Splice_Site	SNP	A	A	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:32366971A>T	ENST00000315285.3	+	13	1618		c.e13-1		SPAST_ENST00000345662.1_Splice_Site	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin						cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTTTTTTTTTAGGCGTTTCAT	0.303000													3	27					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			20	3					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124267721	124267721	+	Silent	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:124267721G>A	ENST00000409039.3	+	7	751	c.726G>A	c.(724-726)ccG>ccA	p.P242P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	242	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGCTGACCCGGAAACCGTTG	0.478000													4	48					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98927443	98927443	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:98927443A>G	ENST00000266732.4	+	4	1646	c.1408A>G	c.(1408-1410)Act>Gct	p.T470A	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCATTCACTCACTACCTTAGG	0.393000													4	67					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44951348	44951348	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:44951348G>C	ENST00000261866.7	-	3	612	c.596C>G	c.(595-597)gCa>gGa	p.A199G	SPG11_ENST00000535302.2_Missense_Mutation_p.A199G|SPG11_ENST00000559193.1_Missense_Mutation_p.A199G|SPG11_ENST00000558319.1_Missense_Mutation_p.A199G|SPG11_ENST00000427534.2_Missense_Mutation_p.A199G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	199					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATGTCCACTGCCTGTGCAGG	0.408000													47	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179631139	179631139	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:179631139C>A	ENST00000589042.1	-	41	9896	c.9672G>T	c.(9670-9672)agG>agT	p.R3224S	TTN_ENST00000591111.1_Missense_Mutation_p.R3224S|TTN_ENST00000342992.6_Missense_Mutation_p.R3224S|TTN_ENST00000342175.6_Missense_Mutation_p.R3178S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R3178S|TTN_ENST00000360870.5_Missense_Mutation_p.R3224S|TTN_ENST00000359218.5_Missense_Mutation_p.R3178S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2957							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCCTGTTCCTTCCTGCCA	0.413000													14	81					3.27435e-08	3.4879e-08	1	1	0
HS6ST2	90161	broad.mit.edu	37	X	131762930	131762930	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:131762930T>C	ENST00000370836.2	-	4	1554	c.1139A>G	c.(1138-1140)gAc>gGc	p.D380G	HS6ST2_ENST00000406696.3_Missense_Mutation_p.D106G|HS6ST2_ENST00000521489.1_Missense_Mutation_p.D420G|HS6ST2_ENST00000370833.2_Missense_Mutation_p.D274G|HS6ST2_ENST00000370837.1_Missense_Mutation_p.D234G	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	380						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GTAGGGACAGTCCATAAACTC	0.567000													8	18					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54726381	54726381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr19:54726381C>T	ENST00000391750.1	-	4	260	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.G42R|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.G42R|LILRB3_ENST00000245620.9_Missense_Mutation_p.G42R			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	42	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCTCCCCCAGCTGATC	0.602000													9	69					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701439	50701439	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr20:50701439G>A	ENST00000361387.2	-	9	1655	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	ZFP64_ENST00000371523.4_Missense_Mutation_p.T313M|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGCCGCTTCGTGTCGAAGCT	0.647000													14	35					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44192978	44192978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr7:44192978C>T	ENST00000403799.3	-	2	599	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	GCK_ENST00000345378.2_Missense_Mutation_p.G45S|GCK_ENST00000395796.3_Missense_Mutation_p.G43S|GCK_ENST00000437084.1_Missense_Mutation_p.G44S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	44					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						AGCCTCAGGCCGCGGTCCATC	0.612000													4	208					0	0	1	0	0
TMEM150A	129303	broad.mit.edu	37	2	85826350	85826350	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:85826350T>C	ENST00000409668.1	-	7	1132	c.665A>G	c.(664-666)tAt>tGt	p.Y222C	TMEM150A_ENST00000306353.3_Missense_Mutation_p.Y169C|TMEM150A_ENST00000334462.5_Missense_Mutation_p.Y222C			Q86TG1	T150A_HUMAN	transmembrane protein 150A	222						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						GAAGGTGCCATAGAAAATGAG	0.567000													17	40					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623319	100623319	+	Silent	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:100623319A>G	ENST00000317233.4	-	6	883	c.648T>C	c.(646-648)ttT>ttC	p.F216F	AFF3_ENST00000409579.1_Silent_p.F241F|AFF3_ENST00000409236.1_Silent_p.F216F|AFF3_ENST00000356421.2_Silent_p.F241F	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	216					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGGATGGAGGAAAGTTCTGAA	0.582000													32	52					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													3	29					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228588830	228588830	+	Silent	SNP	T	T	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr1:228588830T>A	ENST00000493030.2	-	2	3904	c.195A>T	c.(193-195)gcA>gcT	p.A65A	TRIM11_ENST00000366699.3_Silent_p.A190A|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Silent_p.A190A			Q96F44	TRI11_HUMAN	tripartite motif containing 11	190					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCTCCTCCTCTGCCAGCAAAC	0.677000													8	34					0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10263519	10263519	+	Silent	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:10263519T>C	ENST00000360566.2	+	3	651	c.360T>C	c.(358-360)acT>acC	p.T120T	RRM2_ENST00000304567.5_Silent_p.T60T	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	60					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		AACAGAAAACTAAAGCAGCTG	0.493000													4	61					0	0	1	0	0
ARFIP2	23647	broad.mit.edu	37	11	6499304	6499304	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr11:6499304G>A	ENST00000254584.2	-	6	745	c.662C>T	c.(661-663)aCg>aTg	p.T221M	ARFIP2_ENST00000423813.2_Missense_Mutation_p.T183M|ARFIP2_ENST00000396777.3_Missense_Mutation_p.T221M|ARFIP2_ENST00000445086.2_Missense_Mutation_p.T136M	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	221	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTCATGAGCGTGTCTTCCAT	0.507000													30	38					0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220412401	220412401	+	Missense_Mutation	SNP	C	C	T	rs149628397		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:220412401C>T	ENST00000344458.2	+	4	925	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	TMEM198_ENST00000373883.3_Missense_Mutation_p.R114C			Q66K66	TM198_HUMAN	transmembrane protein 198	114	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CATGCTAGTGCGCAGCGTGGG	0.697000													19	70					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060004	144060004	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr7:144060004delA	ENST00000056217.5	+	2	416	c.242delA	c.(241-243)gafs	p.E81fs		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	81					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTTCCCAAGGAAGGTTCTGCA	0.537													3	5	---	---	---	---					
ACRBP	84519	broad.mit.edu	37	12	6756525	6756525	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:6756525delT	ENST00000229243.2	-	1	101	c.8delA	c.(7-9)agfs	p.K3fs	ACRBP_ENST00000536350.1_Frame_Shift_Del_p.K3fs|ACRBP_ENST00000414226.2_Frame_Shift_Del_p.K3fs	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	3						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGCGGCTGGCTTCCTCATGGC	0.672													2	4	---	---	---	---					
SNRPD2	6633	broad.mit.edu	37	19	46191718	46191721	+	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr19:46191718_46191721delTGAC	ENST00000342669.3	-	2	550_553	c.106_109delGTCA	c.(106-111)agfs	p.VK36fs	SNRPD2_ENST00000590212.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000585392.1_5'UTR	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	36					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		GTATTGTTCTTGACTGACTGTGTG	0.544													11	126	---	---	---	---					
FMR1	2332	broad.mit.edu	37	X	147026489	147026489	+	Frame_Shift_Del	DEL	C	C	-	rs143889976	byFrequency	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:147026489delC	ENST00000218200.8	+	14	1738	c.1509delC	c.(1507-1509)agfs	p.S503fs	FMR1_ENST00000370477.1_Frame_Shift_Del_p.S491fs|FMR1_ENST00000370475.4_Frame_Shift_Del_p.S524fs|FMR1_ENST00000440235.2_Frame_Shift_Del_p.S171fs|FMR1_ENST00000370471.3_Frame_Shift_Del_p.A434fs|FMR1_ENST00000370470.1_Frame_Shift_Del_p.S499fs|FMR1_ENST00000439526.2_Frame_Shift_Del_p.S501fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	524	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGGAGAGCTTCCTGCGCA	0.512									Fragile X syndrome				2	4	---	---	---	---