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
FAT1	2195	broad.mit.edu	37	4	187524178	187524178	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr4:187524178G>C	ENST00000441802.2	-	20	11570	c.11361C>G	c.(11359-11361)tgC>tgG	p.C3787W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3787					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGACAGGTGGGCACCTTCCCT	0.488000										HNSCC(5;0.00058)			11	29					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	21					0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	138697	138697	+	Splice_Site	SNP	C	C	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:138697C>G	ENST00000399953.3	-	13	1943	c.1541G>C	c.(1540-1542)aGg>aCg	p.R514T	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Splice_Site_p.R335T	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	515							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CTACACCCACCTGGCAAACAT	0.597000													6	8					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131747270	131747270	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr9:131747270C>T	ENST00000372577.2	+	20	2074	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	685					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCCTTTCTGCGCTTGATCAC	0.468000											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	16	45					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243480092	243480092	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr1:243480092T>G	ENST00000366541.3	+	9	1083	c.965T>G	c.(964-966)gTa>gGa	p.V322G	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.V177G|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.V279G|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.V322G	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	322	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CTAGTTTCCGTAAGGAGCAGC	0.403000													16	25					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078468	170078468	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr3:170078468T>C	ENST00000458537.3	+	1	1058	c.349T>C	c.(349-351)Tcg>Ccg	p.S117P	SKIL_ENST00000413427.2_Missense_Mutation_p.S117P|SKIL_ENST00000259119.4_Missense_Mutation_p.S117P|SKIL_ENST00000426052.2_Missense_Mutation_p.S97P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	117					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGAAAGCATGTCGCCTACTGT	0.493000													42	86					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813550	24813550	+	Missense_Mutation	SNP	G	G	A	rs151027148		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr10:24813550G>A	ENST00000376451.2	+	8	2064	c.1804G>A	c.(1804-1806)Gtc>Atc	p.V602I	KIAA1217_ENST00000376454.3_Missense_Mutation_p.V919I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V602I|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V839I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V884I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V884I			Q5T5P2	SKT_HUMAN	KIAA1217	919					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCCCAGCCGTCCCCCAGGA	0.622000													11	11					0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38933340	38933340	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr17:38933340G>A	ENST00000301656.3	-	8	1331	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	431	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACTTTGCCACGAGGATCTATC	0.383000													26	26					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201435848	201435848	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:201435848G>A	ENST00000357799.4	+	7	877	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	260					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TCTATTGGCCGCAGATGGGAG	0.428000													3	48					0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151791479	151791479	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:151791479A>G	ENST00000434507.1	+	4	604	c.167A>G	c.(166-168)tAt>tGt	p.Y56C	GALNT11_ENST00000422997.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000430044.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000320311.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000415421.1_Missense_Mutation_p.Y56C			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	56						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AAAAAATTCTATCCCCGTTTC	0.463000													29	62					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953812	56953812	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr19:56953812G>C	ENST00000504904.3	-	7	1271	c.552C>G	c.(550-552)atC>atG	p.I184M	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.I312M|ZNF667_ENST00000292069.6_Missense_Mutation_p.I184M			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGATGGATGAGATCTGTCTGA	0.373000													3	38					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	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	NM_001282387.1	NP_001269316.1	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								23	43					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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)			13	1					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656574	40656574	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:40656574G>C	ENST00000406785.2	-	2	1036	c.847C>G	c.(847-849)Cca>Gca	p.P283A	SLC8A1_ENST00000406391.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P283A|SLC8A1_ENST00000542756.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P283A|SLC8A1_ENST00000403092.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P283A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTAGAAGATGGCCTGTCTCCT	0.443000													66	86					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36462337	36462337	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:36462337C>T	ENST00000265748.2	+	14	2616	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	ANLN_ENST00000396068.2_Missense_Mutation_p.P762S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	799	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGAATTTATGCCATCCAAAGG	0.403000													5	114					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	12					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43545071	43545071	+	Missense_Mutation	SNP	C	C	T	rs113766373		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr15:43545071C>T	ENST00000220420.5	-	6	755	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	TGM5_ENST00000349114.4_Missense_Mutation_p.A168T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	250					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCAGGGTTGGCGCCGTCTGTG	0.547000													27	24					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201437991	201437991	+	Silent	SNP	T	T	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:201437991T>C	ENST00000357799.4	+	7	3020	c.2922T>C	c.(2920-2922)gaT>gaC	p.D974D		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	974					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAGTTGTGATCAAATTTTAG	0.284000													4	53					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695157	247695157	+	Silent	SNP	G	G	A			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr1:247695157G>A	ENST00000366487.3	-	2	1018	c.657C>T	c.(655-657)taC>taT	p.Y219Y	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAATGTGGCCGTAAGAGACCA	0.542000													15	14					0	0	1	0	0
HCCS	3052	broad.mit.edu	37	X	11139866	11139866	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:11139866C>T	ENST00000321143.4	+	7	945	c.743C>T	c.(742-744)gCc>gTc	p.A248V	HCCS_ENST00000380762.4_Missense_Mutation_p.A248V|HCCS_ENST00000380763.3_Missense_Mutation_p.A248V|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	248					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						GTCCGTCCTGCCTTAGATTCA	0.428000													12	15					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44577646	44577646	+	Silent	SNP	T	T	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr20:44577646T>C	ENST00000322927.2	-	28	4075	c.3975A>G	c.(3973-3975)caA>caG	p.Q1325Q	ZNF335_ENST00000426788.1_Silent_p.Q1170Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1325	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTGCAGCTGTTGAATGTGTT	0.602000													10	12					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12905884	12905884	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:12905884G>C	ENST00000380659.3	+	3	2396	c.2257G>C	c.(2257-2259)Gat>Cat	p.D753H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	753					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)	GCGATATCTGGATCTCAGCTC	0.388000													41	6					0	0	1	0	0
THUMPD1	55623	broad.mit.edu	37	16	20748258	20748258	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:20748258C>G	ENST00000381337.2	-	4	1350	c.1006G>C	c.(1006-1008)Gaa>Caa	p.E336Q	THUMPD1_ENST00000431224.2_Missense_Mutation_p.E422Q|THUMPD1_ENST00000396083.2_Missense_Mutation_p.E336Q	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	336										NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTGCAAGTTCAGGTTTGGCT	0.468000													27	47					0	0	1	0	0
VWA9	81556	broad.mit.edu	37	15	65885872	65885872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr15:65885872C>A	ENST00000395644.4	-	8	1215	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	VWA9_ENST00000420799.2_Nonsense_Mutation_p.E237*|VWA9_ENST00000313182.2_Nonsense_Mutation_p.E294*|VWA9_ENST00000569491.1_Nonsense_Mutation_p.E244*|VWA9_ENST00000442903.3_Nonsense_Mutation_p.E258*|VWA9_ENST00000567744.1_Nonsense_Mutation_p.E330*|VWA9_ENST00000431261.2_Nonsense_Mutation_p.E215*					von Willebrand factor A domain containing 9																		TTTTCATCTTCATTGTCATCA	0.418000													24	40					3.28513e-13	3.40245e-13	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32638783	32638783	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr21:32638783C>T	ENST00000286827.3	-	5	977	c.506G>A	c.(505-507)cGc>cAc	p.R169H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R169H|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	169					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGATTTGGAGCGTTTCTTCTT	0.502000													32	54					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71493288	71493288	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr5:71493288A>G	ENST00000296755.7	+	5	4404	c.4106A>G	c.(4105-4107)aAa>aGa	p.K1369R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1369						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTGATGCCAAAGATGAGAAT	0.463000													25	31					0	0	1	0	0
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													4	7	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													2	4	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2820625	2820625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:2820625delC	ENST00000301740.8	+	14	8705	c.8156delC	c.(8155-8157)tccfs	p.S2719fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2719	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGCGGGGTTCCCGGAGAGGC	0.647													2	4	---	---	---	---					
HELZ2	85441	broad.mit.edu	37	20	62193250	62193251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr20:62193250_62193251insG	ENST00000467148.1	-	11	6685_6686	c.6616_6617insC	c.(6616-6618)cgtfs	p.R2206fs	HELZ2_ENST00000427522.2_Frame_Shift_Ins_p.R1637fs	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CTTCTCCCCACGGGGGGGGCCT	0.649													3	5	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937603	76937603	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:76937603delT	ENST00000373344.5	-	9	3359	c.3145delA	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					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)	TTATCTCTTATTTTTTTACTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						68	25	---	---	---	---					
