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
PKLR	5313	broad.mit.edu	37	1	155265503	155265503	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr1:155265503C>T	ENST00000392414.3	-	3	348	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	PKLR_ENST00000342741.4_Missense_Mutation_p.A110T	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	110					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TTCATCCCGGCCTTGATCATC	0.627000													4	67					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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)			10	56					0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	rs1799990	byFrequency	TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr20:4680251A>G	ENST00000379440.4	+	2	672	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	129	Interaction with GRB2, ERI3 and SYN1 (By similarity).		M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.M129V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGGCGGCTACATGCTGGGAAG	0.547000													6	79					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90086940	90086940	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:90086940C>T	ENST00000405460.2	+	70	14390	c.14294C>T	c.(14293-14295)gCc>gTc	p.A4765V	GPR98_ENST00000425867.2_Missense_Mutation_p.A426V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4765					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGTATTTGCCCTGTATTCG	0.448000													3	31					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52865661	52865661	+	RNA	SNP	C	C	A			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr13:52865661C>A	ENST00000451298.1	-	0	31																											AAGGATGACACAATTGAATGA	0.289000													4	15					0.0215528	0.0215528	1	1	0
C1D	10438	broad.mit.edu	37	2	68270036	68270036	+	Silent	SNP	T	T	G			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr2:68270036T>G	ENST00000355848.3	-	5	458	c.411A>C	c.(409-411)ggA>ggC	p.G137G	C1D_ENST00000409302.1_Silent_p.G137G|C1D_ENST00000407324.1_Silent_p.G176G|C1D_ENST00000410067.3_Silent_p.G137G			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	137	Interaction with NCOR1 and NCOR2 (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						TTTTACTTTTTCCTTTATTGG	0.423000													4	8					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141325159	141325159	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:141325159G>C	ENST00000231484.3	-	4	4552	c.3342C>G	c.(3340-3342)agC>agG	p.S1114R		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1114					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCAGTGAGCTCATCTCCG	0.662000													5	44					0	0	1	0	0
LINC00886	730091	broad.mit.edu	37	3	156528401	156528401	+	RNA	SNP	G	G	A	rs9812169	by1000genomes	TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr3:156528401G>A	ENST00000472943.1	-	0	148					NR_038387.1																						ACACACCTGAGCTAGATGCTT	0.483000													4	50					0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126134414	126134414	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:126134414C>T	ENST00000332118.6	-	12	1700	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	SRPR_ENST00000532259.1_Missense_Mutation_p.V488M	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	516					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ACCAGCACCACGTCAAAGCCT	0.507000													7	58					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51769670	51769670	+	Silent	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr10:51769670C>T	ENST00000374056.4	+	7	2114	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	AGAP6_ENST00000412531.3_Silent_p.T595T			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	595					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.T595T(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TGCGGGCCACCGCTGATGAGG	0.627000													7	116					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44793178	44793178	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr19:44793178T>C	ENST00000291182.4	-	5	512	c.410A>G	c.(409-411)cAt>cGt	p.H137R	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GGGGGAATCATGGTGCTTGGG	0.438000													9	113					0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114531664	114531664	+	Silent	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr13:114531664C>T	ENST00000357389.3	-	11	1445	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A	GAS6_ENST00000418959.3_Silent_p.A89A|GAS6_ENST00000327773.6_Silent_p.A388A|GAS6_ENST00000355761.4_Silent_p.A334A|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Silent_p.A115A			Q14393	GAS6_HUMAN	growth arrest-specific 6	431	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCAGATTCCGCGCCAGCTCCT	0.537000													13	71					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145657761	145657761	+	Silent	SNP	G	G	A	rs34599999	byFrequency	TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr8:145657761G>A	ENST00000409379.3	-	23	3671	c.3642C>T	c.(3640-3642)ccC>ccT	p.P1214P		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1214					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	p.P1214P(1)|p.P1055P(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGGTGCCGGCGGGCAGGCTCT	0.647000													5	96					0	0	1	0	0
ROM1	6094	broad.mit.edu	37	11	62380964	62380964	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:62380964G>A	ENST00000278833.3	+	1	752	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	ROM1_ENST00000534093.1_Intron	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	71					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GGCAGCGGGCGCGGTGGCTCT	0.667000													5	26					0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102323220	102323220	+	Missense_Mutation	SNP	A	A	G	rs142106753		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr14:102323220A>G	ENST00000422945.2	+	4	481	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PPP2R5C_ENST00000334743.5_Missense_Mutation_p.M98V|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.M153V|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.M98V|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.M98V|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.M98V	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	98					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGTAGTCCATATGGTAAGTGA	0.418000													5	94					0	0	1	0	0
SAMD13	148418	broad.mit.edu	37	1	84764244	84764244	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr1:84764244C>T	ENST00000370673.3	+	1	196	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W		NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	0										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CGCGGCCATGCGGGGAGGTAA	0.706000													2	3					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578291	7578291	+	Splice_Site	SNP	T	T	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr17:7578291T>C	ENST00000420246.2	-	6	692		c.e6-2		TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		GGGCCAGACCTAAGAGCAATC	0.552000		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)			28	16					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124351613	124351613	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr8:124351613T>C	ENST00000287394.5	-	20	2899	c.2792A>G	c.(2791-2793)aAa>aGa	p.K931R	ATAD2_ENST00000521903.1_Missense_Mutation_p.K249R	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCAAAAAATTTTGTCCGTTC	0.274000													11	24					0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83724060	83724060	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:83724060G>T	ENST00000297977.5	-	3	782	c.671C>A	c.(670-672)cCa>cAa	p.P224Q	HDX_ENST00000373177.2_Missense_Mutation_p.P224Q|HDX_ENST00000506585.2_Missense_Mutation_p.P166Q	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AATCCCAACTGGTTCAATTTT	0.413000													10	81					3.86212e-05	4.06539e-05	1	1	0
FAT2	2196	broad.mit.edu	37	5	150932869	150932869	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:150932869G>A	ENST00000261800.5	-	5	4037	c.4025C>T	c.(4024-4026)cCg>cTg	p.P1342L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1342	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGGAGGACGGCCGGGGCCA	0.582000													21	50					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89044401	89044401	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr14:89044401T>C	ENST00000251038.5	+	9	1421	c.1196T>C	c.(1195-1197)gTc>gCc	p.V399A	ZC3H14_ENST00000336693.4_Missense_Mutation_p.V365A|ZC3H14_ENST00000557607.1_Missense_Mutation_p.V244A|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V399A|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V365A|ZC3H14_ENST00000302216.8_Missense_Mutation_p.V399A|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V399A|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V399A|ZC3H14_ENST00000557605.1_3'UTR	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	399						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GCAGAAGTGGTCCAGGGACAA	0.388000													27	73					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	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								42	47					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136682203	136682203	+	Silent	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr6:136682203C>T	ENST00000354570.3	-	12	2051	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q	MAP7_ENST00000454590.1_Silent_p.Q569Q|MAP7_ENST00000544465.1_Silent_p.Q532Q|MAP7_ENST00000438100.2_Silent_p.Q532Q|MAP7_ENST00000432797.2_Silent_p.Q401Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	547					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCGCCTGCCGCTGCAGCTGCT	0.731000													10	6					0	0	1	0	0
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000527950.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418000													5	16					5.9392e-07	6.59911e-07	1	1	0
ITSN1	6453	broad.mit.edu	37	21	35183494	35183494	+	Silent	SNP	G	G	A			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr21:35183494G>A	ENST00000381318.3	+	21	2823	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.T840T|ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000399326.3_Silent_p.T840T|ITSN1_ENST00000379960.5_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000399338.4_Silent_p.T840T|ITSN1_ENST00000399367.3_Silent_p.T840T|ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000399349.1_Silent_p.T840T|ITSN1_ENST00000381291.4_Silent_p.T845T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	845					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCCTCCACGACCCCTAATA	0.547000													10	102					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29631583	29631583	+	Missense_Mutation	SNP	C	C	A	rs143891680	by1000genomes	TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr20:29631583C>A	ENST00000278882.3	+	7	759	c.379C>A	c.(379-381)Cca>Aca	p.P127T	FRG1B_ENST00000358464.4_Missense_Mutation_p.P127T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGATGACATTCCAGAAGAAGA	0.343000													18	29					1.2644e-06	1.36692e-06	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597485	136597486	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr6:136597485_136597486delTT	ENST00000531224.1	-	5	1429_1430	c.1177_1178delAA	c.(1177-1179)aagfs	p.K393fs	BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.K393fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	393					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCATTAAACTTTTGTTTTCCA	0.436													11	574	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr7:142481743_142481745delCTA	ENST00000603901.1	+	0	454					NR_001296.3																						ACCCACATTTCTACTTTCTTTAT	0.517													4	6	---	---	---	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	42	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937602	76937603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:76937602_76937603insT	ENST00000373344.5	-	9	3359_3360	c.3145_3146insA	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.I1011fs	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)	TTTATCTCTTATTTTTTTACTT	0.327			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						36	45	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs141180098		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:76938089_76938092delTCTC	ENST00000373344.5	-	9	2870_2873	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.ET886fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	886					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.E886fs*18(1)|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)	GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						25	208	---	---	---	---					
