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
C19orf26	255057	broad.mit.edu	37	19	1235018	1235018	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:1235018G>A	ENST00000590083.1	-	5	729	c.437C>T	c.(436-438)aCg>aTg	p.T146M	C19orf26_ENST00000382477.2_Missense_Mutation_p.T140M|C19orf26_ENST00000215376.6_Missense_Mutation_p.T140M			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	140						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGTCCTGCGTCTTGCGGCT	0.701000										HNSCC(14;0.022)			5	42					0	0	0.217242	0	0
NOTCH2	4853	broad.mit.edu	37	1	120471782	120471782	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:120471782T>C	ENST00000256646.2	-	23	3928	c.3709A>G	c.(3709-3711)Aat>Gat	p.N1237D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1237	EGF-like 32; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGACCACCATTAAGGCAATGG	0.507000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				3	75					0	0	0.115264	0	0
WDR5	11091	broad.mit.edu	37	9	137005847	137005847	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:137005847A>G	ENST00000358625.3	+	3	275	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	WDR5_ENST00000425041.1_Missense_Mutation_p.Y35C	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	35					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AAGCCAAACTATGCTCTAAAG	0.507000													4	297					0	0	0.184627	0	0
FRYL	285527	broad.mit.edu	37	4	48517115	48517115	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr4:48517115C>T	ENST00000358350.4	-	56	8471	c.7867G>A	c.(7867-7869)Gtt>Att	p.V2623I	FRYL_ENST00000503238.1_Missense_Mutation_p.V2623I|FRYL_ENST00000537810.1_Missense_Mutation_p.V2623I|FRYL_ENST00000507873.2_Missense_Mutation_p.V19I|FRYL_ENST00000264319.7_Missense_Mutation_p.V19I	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2623					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCTAAGGTAACATCCTCTTCA	0.423000													8	132					0	0	0.278610	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089129	43089129	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr10:43089129G>A	ENST00000359467.3	-	5	1383	c.1269C>T	c.(1267-1269)taC>taT	p.Y423Y	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	423						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CAGATTTCTGGTAAAAAGTTT	0.418000													6	121					0	0	0.217242	0	0
ATAD3B	83858	broad.mit.edu	37	1	1431191	1431191	+	Silent	SNP	G	G	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:1431191G>T	ENST00000308647.7	+	16	2057	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	647							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCACCCCCTGTTGTAGGCAC	0.657000													3	28					6.4e-05	7.1e-05	0.115264	1	0
ADCY7	113	broad.mit.edu	37	16	50339454	50339454	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr16:50339454G>A	ENST00000394697.2	+	13	1976	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	ADCY7_ENST00000254235.3_Missense_Mutation_p.D546N|ADCY7_ENST00000566433.2_Missense_Mutation_p.D546N|ADCY7_ENST00000538642.1_Missense_Mutation_p.D546N|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	546					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGACTCGTACGATGACGAGAT	0.607000													5	216					0	0	0.217242	0	0
DEFB116	245930	broad.mit.edu	37	20	29891116	29891116	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:29891116T>G	ENST00000400549.1	-	2	207	c.208A>C	c.(208-210)Aaa>Caa	p.K70Q		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	70					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACAGAAAGTTTCAGGCAGCAC	0.398000													4	371					0	0	0.150653	0	0
PANK4	55229	broad.mit.edu	37	1	2440330	2440330	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:2440330G>A	ENST00000378466.3	-	19	2290	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	PANK4_ENST00000435556.3_Missense_Mutation_p.R721W	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	760					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGAAGAGCCGGCCGCCCAGC	0.622000													17	22					0	0	0.575678	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20779861	20779861	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:20779861C>T	ENST00000398169.3	-	7	1298	c.682G>A	c.(682-684)Gat>Aat	p.D228N	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.D228N			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	228						chromosome|nucleus	ligase activity|metal ion binding|protein binding	p.D228N(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		CCATCTCCATCGCCCCGATTT	0.398000			T	HMGA2	leiomyoma								8	101					0	0	0.307466	0	0
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:7577568C>T	ENST00000420246.2	-	7	845	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572000		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)			39	60					0	0	0.853193	0	0
RIOK3	8780	broad.mit.edu	37	18	21057190	21057190	+	Missense_Mutation	SNP	C	C	A	rs56187215		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr18:21057190C>A	ENST00000339486.3	+	11	1919	c.1302C>A	c.(1300-1302)caC>caA	p.H434Q	RIOK3_ENST00000581585.1_Missense_Mutation_p.H418Q|RIOK3_ENST00000577501.1_Missense_Mutation_p.H434Q	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	434	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACCCTCACGGCCTGGAGT	0.413000													49	63					1.48341e-19	1.69874e-19	0.870114	1	0
HSP90AB2P	0	broad.mit.edu	37	4	13339305	13339305	+	RNA	SNP	A	A	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr4:13339305A>T	ENST00000602906.1	+	0	862																				kidney(3)|lung(1)	4						AAAATCTTCAAAGTCATTCAC	0.423000													7	21					0	0	0.248553	0	0
SMARCA4	6597	broad.mit.edu	37	19	11098500	11098500	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:11098500G>A	ENST00000358026.2	+	6	1302	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SMARCA4_ENST00000429416.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A340T|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A340T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A340T|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A340T	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	340					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCCAGCCCGCGCCCATGGT	0.746000			"""F, N, Mis"""		NSCLC								11	6					0	0	0.387290	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	122					0	0	0.184627	0	0
ATRX	546	broad.mit.edu	37	X	76939522	76939522	+	Nonsense_Mutation	SNP	A	A	T	rs122445109		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chrX:76939522A>T	ENST00000373344.5	-	9	1440	c.1226T>A	c.(1225-1227)tTg>tAg	p.L409*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L371*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	409			L -> S (in MRXSHF1).		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)	GTCTTCTTCCAATGCAAGATG	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						219	56					0	0	0.870114	0	0
NID2	22795	broad.mit.edu	37	14	52520997	52520997	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:52520997G>A	ENST00000216286.5	-	4	809	c.810C>T	c.(808-810)atC>atT	p.I270I	NID2_ENST00000541773.1_Silent_p.I217I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	270	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGTGCTGCCGATATGGAAAG	0.502000													4	62					0	0	0.184627	0	0
ARF6	382	broad.mit.edu	37	14	50360497	50360497	+	Missense_Mutation	SNP	C	C	T	rs61754359		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:50360497C>T	ENST00000298316.5	+	2	590	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	15					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					CAAGGAAATGCGGATCCTCAT	0.597000													4	139					0	0	0.184627	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													4	24					0	0	0.184627	0	0
ATAD1	84896	broad.mit.edu	37	10	89536119	89536119	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr10:89536119T>G	ENST00000308448.7	-	6	1027	c.649A>C	c.(649-651)Atg>Ctg	p.M217L	ATAD1_ENST00000541004.1_Missense_Mutation_p.M217L|ATAD1_ENST00000400215.3_Missense_Mutation_p.M159L|ATAD1_ENST00000328142.3_Missense_Mutation_p.M217L	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	217						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CAGAGACTCATAAACTGAGCT	0.378000													11	193					0	0	0.457914	0	0
MYH2	4620	broad.mit.edu	37	17	10451106	10451106	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:10451106T>A	ENST00000245503.5	-	3	516	c.132A>T	c.(130-132)aaA>aaT	p.K44N	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.K44N|MYH2_ENST00000397183.2_Missense_Mutation_p.K44N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	44	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAAAGGATTCTTTGGGCTCCG	0.537000													81	112					0	0	0.870114	0	0
TNFSF15	9966	broad.mit.edu	37	9	117552881	117552881	+	Missense_Mutation	SNP	C	C	T	rs150498686		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:117552881C>T	ENST00000374045.4	-	4	720	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	TNFSF15_ENST00000374044.1_Missense_Mutation_p.E126K	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	203					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTACCTACTTCGCATACAGAC	0.527000													10	61					0	0	0.335167	0	0
SPEN	23013	broad.mit.edu	37	1	16242638	16242638	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:16242638A>G	ENST00000375759.3	+	6	1463	c.1259A>G	c.(1258-1260)aAt>aGt	p.N420S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	420					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAGTGAAAATGAATTTCGC	0.348000													4	69					0	0	0.150653	0	0
FBN1	2200	broad.mit.edu	37	15	48773871	48773871	+	Silent	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:48773871T>C	ENST00000316623.5	-	32	4400	c.3945A>G	c.(3943-3945)aaA>aaG	p.K1315K		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1315	EGF-like 21; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGTTTTTCCTTTTTTGCCGG	0.363000													3	134					0	0	0.150653	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738083	19738083	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr7:19738083G>A	ENST00000222567.5	-	4	943	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	291	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGAAAACAGGGTCCTGGTCCT	0.438000													7	466					0	0	0.278610	0	0
NCAM1	4684	broad.mit.edu	37	11	113076288	113076288	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr11:113076288G>A	ENST00000316851.7	+	3	360	c.360G>A	c.(358-360)cgG>cgA	p.R120R	NCAM1_ENST00000533760.1_Silent_p.R12R|NCAM1_ENST00000401611.2_Silent_p.R129R|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	130	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGAGTTCCGGGAGGGGGAAG	0.507000													6	95					0	0	0.248553	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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								23	63					0	0	0.639603	0	0
ZZZ3	26009	broad.mit.edu	37	1	78041829	78041829	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:78041829G>A	ENST00000370801.3	-	12	2730	c.2255C>T	c.(2254-2256)cCg>cTg	p.P752L	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.P258L	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ATACACTGGCGGTTCATGTGA	0.378000													38	62					0	0	0.804634	0	0
NDN	4692	broad.mit.edu	37	15	23932264	23932264	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:23932264G>A	ENST00000331837.4	-	1	186	c.101C>T	c.(100-102)cCg>cTg	p.P34L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	34					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGTCGCGGACGGAGGAACCCC	0.692000									Prader-Willi syndrome				6	26					0	0	0.248553	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	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)			24	31					0	0	0.681144	0	0
NIF3L1	60491	broad.mit.edu	37	2	201757035	201757035	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr2:201757035C>G	ENST00000409020.1	+	2	663	c.369C>G	c.(367-369)atC>atG	p.I123M	NIF3L1_ENST00000359683.4_Missense_Mutation_p.I96M|NIF3L1_ENST00000416651.1_Missense_Mutation_p.I123M|NIF3L1_ENST00000409588.1_Missense_Mutation_p.I123M|NIF3L1_ENST00000409357.1_Missense_Mutation_p.I123M			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	123					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GAGTCGGTATCTACTCTCCTC	0.527000													3	88					0	0	0.115264	0	0
ZNF658	26149	broad.mit.edu	37	9	40774421	40774421	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:40774421A>G	ENST00000602553.1	-	5	1148	c.854T>C	c.(853-855)gTt>gCt	p.V285A	ZNF658_ENST00000441795.1_Missense_Mutation_p.V283A|ZNF658_ENST00000377626.3_Missense_Mutation_p.V285A			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTGTATTCAACAGCGGTGGT	0.388000													10	219					0	0	0.479597	0	0
KRT76	51350	broad.mit.edu	37	12	53169301	53169301	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr12:53169301C>T	ENST00000332411.2	-	2	739	c.686G>A	c.(685-687)aGc>aAc	p.S229N		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	229	Linker 1.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGCTCCAGGCTGCTGGGCCC	0.557000													75	99					0	0	0.870114	0	0
MUC21	394263	broad.mit.edu	37	6	30954953	30954953	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:30954953A>T	ENST00000376296.3	+	2	1242	c.1001A>T	c.(1000-1002)gAg>gTg	p.E334V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	334	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCAACTCTGAGTCCAGCACG	0.622000													15	411					0	0	0.500413	0	0
HSD11B1	3290	broad.mit.edu	37	1	209880366	209880366	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:209880366G>A	ENST00000367028.2	+	5	579	c.410G>A	c.(409-411)cGc>cAc	p.R137H	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.R137H|HSD11B1_ENST00000261465.1_Missense_Mutation_p.R137H	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	137					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	CACCATGTGCGCAAAAGCATG	0.448000													4	120					0	0	0.150653	0	0
TCEAL6	158931	broad.mit.edu	37	X	101395952	101395952	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chrX:101395952T>C	ENST00000372774.3	-	3	601	c.352A>G	c.(352-354)Acg>Gcg	p.T118A	TCEAL6_ENST00000372773.1_Missense_Mutation_p.T118A	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GAATCGTCCGTCCCCCTGTCT	0.577000													3	99					0	0	0.115264	0	0
MUC16	94025	broad.mit.edu	37	19	9086351	9086351	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:9086351T>A	ENST00000397910.4	-	1	5667	c.5464A>T	c.(5464-5466)Act>Tct	p.T1822S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1822	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTGATGGAGTTGGAGATGGA	0.483000													8	123					0	0	0.307466	0	0
CSMD2	114784	broad.mit.edu	37	1	34238304	34238304	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:34238304C>T	ENST00000373381.4	-	13	1888	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q	CSMD2_ENST00000338325.1_Missense_Mutation_p.R179Q	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	531	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTTCCCTCCGGCCATATGC	0.522000													4	120					0	0	0.184627	0	0
NPAT	4863	broad.mit.edu	37	11	108043929	108043929	+	Silent	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr11:108043929A>G	ENST00000278612.8	-	13	1887	c.1782T>C	c.(1780-1782)aaT>aaC	p.N594N		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	594					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TATCTTGGCAATTTGATAGCT	0.313000													9	117					0	0	0.307466	0	0
PHF10	55274	broad.mit.edu	37	6	170112612	170112612	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:170112612T>C	ENST00000339209.4	-	8	950	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	PHF10_ENST00000366780.4_Missense_Mutation_p.Y274C	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	276	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TAATGGCAGATACCGCAGCTC	0.438000													8	109					0	0	0.335167	0	0
CBLN4	140689	broad.mit.edu	37	20	54573805	54573805	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:54573805G>A	ENST00000064571.2	-	3	1714	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	138	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TTAACATCAAGTTAACCTAGA	0.363000													3	42					0	0	0.150653	0	0
ATXN2L	11273	broad.mit.edu	37	16	28846974	28846974	+	Silent	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr16:28846974T>C	ENST00000336783.4	+	21	2957	c.2790T>C	c.(2788-2790)ccT>ccC	p.P930P	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Silent_p.P930P|ATXN2L_ENST00000564304.1_Silent_p.P936P|ATXN2L_ENST00000395547.2_Silent_p.P930P|ATXN2L_ENST00000340394.8_Silent_p.P930P|ATXN2L_ENST00000382686.4_Silent_p.P930P|ATXN2L_ENST00000325215.6_Silent_p.P930P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	930						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CACCGGGACCTTCTGCCCAGT	0.662000													8	69					0	0	0.335167	0	0
MSX2	4488	broad.mit.edu	37	5	174156254	174156254	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr5:174156254G>A	ENST00000239243.6	+	2	599	c.472G>A	c.(472-474)Gag>Aag	p.E158K	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	158					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTCGCCCTGGAGCGCAAGTT	0.552000													4	72					0	0	0.184627	0	0
SCN8A	6334	broad.mit.edu	37	12	52200839	52200839	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr12:52200839G>A	ENST00000354534.5	+	27	5747	c.5569G>A	c.(5569-5571)Gga>Aga	p.G1857R	SCN8A_ENST00000545061.1_Missense_Mutation_p.G1816R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1857					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCGGGTCCTGGGAGATAGCGG	0.547000													8	186					0	0	0.335167	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103430859	103430859	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:103430859G>A	ENST00000361246.2	-	19	2994	c.2706C>T	c.(2704-2706)gaC>gaT	p.D902D		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	902					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGAGGTTGGCGTCCTTGACCT	0.652000													13	51					0	0	0.479597	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448635	89448635	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:89448635C>T	ENST00000399794.2	-	3	1590	c.875G>A	c.(874-876)cGt>cAt	p.R292H	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R292H	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	292	Ser-rich.						nucleotide binding|RNA binding										TGGAGCACTACGTGAGTTACC	0.483000													18	273					0	0	0.557998	0	0
REM2	161253	broad.mit.edu	37	14	23354069	23354069	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:23354069C>T	ENST00000267396.4	+	2	413	c.290C>T	c.(289-291)tCg>tTg	p.S97L	REM2_ENST00000536884.1_Missense_Mutation_p.S97L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	97					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TCCTCTGGCTCGTCTGACTCC	0.612000													11	82					0	0	0.435327	0	0
DNAH8	1769	broad.mit.edu	37	6	38976646	38976646	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:38976646A>G	ENST00000359357.3	+	87	12874	c.12620A>G	c.(12619-12621)aAa>aGa	p.K4207R	DNAH8_ENST00000441566.1_Missense_Mutation_p.K4171R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTCAACCCAAAGAGAGTGGA	0.423000													86	145					0	0	0.870114	0	0
BPTF	2186	broad.mit.edu	37	17	65899913	65899913	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:65899913G>A	ENST00000321892.4	+	10	2991	c.2930G>A	c.(2929-2931)cGg>cAg	p.R977Q	BPTF_ENST00000306378.6_Missense_Mutation_p.R851Q|BPTF_ENST00000335221.5_Missense_Mutation_p.R977Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R838Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	977					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGTTACACCGGATGACATCA	0.323000													5	44					0	0	0.184627	0	0
ITGA11	22801	broad.mit.edu	37	15	68643096	68643096	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:68643096C>T	ENST00000423218.2	-	9	1014	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	ITGA11_ENST00000315757.7_Missense_Mutation_p.G307R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	307	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGATTGATCCCCCTGCGGTTG	0.502000													26	75					0	0	0.693898	0	0
ATP4A	495	broad.mit.edu	37	19	36054521	36054521	+	Splice_Site	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:36054521G>A	ENST00000262623.3	-	1	39	c.12_splice	c.e1+1	p.A4_splice		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	4					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCCACTCACGGCCTTCCCCAT	0.652000													9	41					0	0	0.307466	0	0
ZNF831	128611	broad.mit.edu	37	20	57769660	57769660	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:57769660G>A	ENST00000371030.2	+	1	3586	c.3586G>A	c.(3586-3588)Gcg>Acg	p.A1196T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1196						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCTCTGCCCGCGGAGCAGAA	0.637000													25	24					0	0	0.654019	0	0
GBA3	57733	broad.mit.edu	37	4	22749784	22749785	+	RNA	DEL	TA	TA	-	rs73803318		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr4:22749784_22749785delTA	ENST00000511446.1	+	0	1086				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	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						CAGGCatatgtatatatatata	0.342													2	4	---	---	---	---					
RP11-440G9.1	0	broad.mit.edu	37	6	142860298	142860299	+	RNA	INS	-	-	T	rs143051118	by1000genomes	TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.470													3	4	---	---	---	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atg>a	p.ML209del	SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	209						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675													7	160	---	---	---	---