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
PCK1	5105	broad.mit.edu	37	20	56139236	56139236	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:56139236G>A	uc002xyn.4	+	6	1136	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	PCK1_uc010zzm.2_Missense_Mutation_p.A8T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	325					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A325T(2)|p.A325V(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCATTTAAGGGCCATCAACCC	0.448000													9	40					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38995497	38995497	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:38995497A>G	uc002oit.3	+	50	8307	c.8177A>G	c.(8176-8178)aAg>aGg	p.K2726R	RYR1_uc002oiu.3_Missense_Mutation_p.K2726R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2726	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGAGAAAAAGGCCACAGTG	0.597000													3	51					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12439544	12439544	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:12439544A>G	uc001atv.3	+	56	11225	c.11084A>G	c.(11083-11085)tAc>tGc	p.Y3695C	VPS13D_uc001atw.3_Missense_Mutation_p.Y3670C|VPS13D_uc001atx.3_Missense_Mutation_p.Y2882C|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3694					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTCCAGATACGAGCCACTG	0.498000													36	53					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715396	165715396	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:165715396A>G	uc003qum.4	-	1	451	c.415T>C	c.(415-417)Tcc>Ccc	p.S139P	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	139										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GAAGTGTGGGAAAGAGAGGCC	0.627000													17	103					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47593321	47593321	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:47593321G>A	uc002pga.4	-	4	656	c.618C>T	c.(616-618)ggC>ggT	p.G206G	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	206							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCGTCGCCCTCATATT	0.577000													39	72					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117670	117670	+	RNA	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrGL000205.1:117670G>A	uc002kgk.4	+	0		c.1048G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTCAGAGCGTGGAGCAGAT	0.607000													3	14					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170488410	170488410	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170488410G>A	uc002uez.3	+	10	1116	c.896G>A	c.(895-897)aGg>aAg	p.R299K	PPIG_uc010fpx.3_Missense_Mutation_p.R284K|PPIG_uc010fpy.3_Missense_Mutation_p.R292K|PPIG_uc002ufa.3_Missense_Mutation_p.R299K|PPIG_uc002ufb.3_Missense_Mutation_p.R299K|PPIG_uc002ufd.3_Missense_Mutation_p.R296K	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	299					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	gagaaggaaaggaaaaacaga	0.373000													14	16					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26985668	26985668	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:26985668G>A	uc001rhg.3	-	0	464	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ITPR2_uc001rhh.1_5'UTR|ITPR2_uc001rhi.1_Missense_Mutation_p.S16F	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	16					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGCGTACAGGGACACGATGTC	0.622000													27	123					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39513460	39513460	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:39513460C>G	uc003oot.2	-	10	1281	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	KIF6_uc010jxa.1_Missense_Mutation_p.E187Q|KIF6_uc011dua.1_Missense_Mutation_p.E396Q|KIF6_uc010jxb.1_Missense_Mutation_p.E396Q	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTAGTTTTTCCAGCCTAAAA	0.338000													3	57					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147369	145147369	+	Silent	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:145147369T>C	uc002tvu.3	-	9	3816	c.3294A>G	c.(3292-3294)aaA>aaG	p.K1098K	ZEB2_uc010zbm.2_Silent_p.K1074K|ZEB2_uc002tvv.3_Silent_p.K1092K|ZEB2_uc010fnp.3_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	1098	Glu-rich (acidic).					cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCAAGTGCCCTTTCTCGCGCG	0.617000													25	60					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7577570C>T	uc002gim.2	-	6	905	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_uc002gig.1_Missense_Mutation_p.M237I|TP53_uc002gih.3_Missense_Mutation_p.M237I|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M105I|TP53_uc010cnf.1_Missense_Mutation_p.M105I|TP53_uc002gii.1_Missense_Mutation_p.M105I|TP53_uc010cni.1_Missense_Mutation_p.M237I|TP53_uc010cnh.1_Missense_Mutation_p.M237I|TP53_uc002gij.2_Missense_Mutation_p.M237I|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M144I|TP53_uc002gio.2_Missense_Mutation_p.M105I|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M237I(218)|p.Y236C(52)|p.Y236N(12)|p.Y236*(10)|p.Y236H(9)|p.M237K(9)|p.0?(8)|p.Y236D(7)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.M144I(4)|p.Y236del(4)|p.M237fs*10(4)|p.Y236S(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.M237_C238insX(2)|p.Y236Y(2)|p.M237fs*1(2)|p.Y236_M237delYM(2)|p.H233_C242del10(2)|p.M237T(2)|p.Y236fs*4(2)|p.C238fs*2(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N235_Y236delNY(1)|p.Y236fs*5(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)		AACTGTTACACATGTAGTTGT	0.567000		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)			35	51					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77227575	77227575	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:77227575C>T	uc010xfg.2	+	7	2538	c.2085C>T	c.(2083-2085)ccC>ccT	p.P695P	NFATC1_uc002lnc.1_Silent_p.P695P|NFATC1_uc010xff.1_3'UTR|NFATC1_uc002lnd.3_Silent_p.P695P|NFATC1_uc002lne.3_Silent_p.P223P|NFATC1_uc010xfh.2_Silent_p.P695P|NFATC1_uc010xfi.1_Silent_p.P682P|NFATC1_uc010xfj.2_Silent_p.P223P|NFATC1_uc002lnf.3_Silent_p.P682P|NFATC1_uc002lng.3_Silent_p.P682P|NFATC1_uc010xfk.2_Silent_p.P682P	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	695					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTACCTTCCCGCCAACGGTA	0.532000													24	46					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:87214993G>A	uc003uiz.2	-	4	614	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_uc011khc.2_Missense_Mutation_p.R41C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	41					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R41H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTGAATAGCGAAACTAAAAA	0.378000													18	35					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47107968	47107968	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:47107968T>C	uc002ldv.3	+	5	1229	c.977T>C	c.(976-978)aTg>aCg	p.M326T	LIPG_uc002ldu.1_Missense_Mutation_p.M326T|LIPG_uc010xdh.2_Missense_Mutation_p.M252T	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	326	Heparin-binding (By similarity).				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.M326I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCCAAGAAAATGAGGAACAAG	0.493000													62	77					0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46394511	46394511	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:46394511C>T	uc002pdt.3	-	2	657	c.570G>A	c.(568-570)caG>caA	p.Q190Q		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	190	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						AGCCCCCTTCCTGGGGAGTGC	0.677000													6	0					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140812212	140812212	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:140812212C>T	uc003lkt.2	+	0	2055	c.1886C>T	c.(1885-1887)gCg>gTg	p.A629V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.A629V	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	631	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.687000													12	47					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917793	2917793	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:2917793T>C	uc002lwr.3	+	3	1322	c.1174T>C	c.(1174-1176)Tat>Cat	p.Y392H	ZNF57_uc010xha.2_Missense_Mutation_p.Y360H	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCAGCTCTATAAATGTGA	0.438000													4	75					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852349	97852349	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:97852349C>G	uc011bgt.2	+	0	808	c.808C>G	c.(808-810)Caa>Gaa	p.Q270E		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGCAGATGATCAAGATATGGT	0.428000													39	37					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230555	21230555	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:21230555A>C	uc002red.3	-	25	9313	c.9185T>G	c.(9184-9186)tTa>tGa	p.L3062*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3062					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTTAACCTTAATGGAAAACG	0.408000													4	63					0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69631175	69631175	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:69631175C>T	uc001oph.3	-	1	728	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	79					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	p.T79T(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCTCCACTGCCGTTATCTCCA	0.622000													4	95					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111617325	111617325	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:111617325T>A	uc003vfy.3	-	7	832	c.563A>T	c.(562-564)cAt>cTt	p.H188L	DOCK4_uc003vfx.3_Missense_Mutation_p.H188L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.H188L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	188					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTTCTTCCGATGTCGATGTTC	0.502000													10	5					0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108256655	108256655	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:108256655T>C	uc001pkh.3	-	7	849	c.779A>G	c.(778-780)aAc>aGc	p.N260S	C11orf65_uc010rvx.1_Missense_Mutation_p.N211S|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	260										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACCTTTGAAGTTAGCCGAAGA	0.333000													13	197					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32157564	32157564	+	Silent	SNP	C	C	A	rs151067717		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:32157564C>A	uc003oav.1	-	0	400	c.129G>T	c.(127-129)ggG>ggT	p.G43G	PBX2_uc003oaw.3_Silent_p.G43G	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	43							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTCCCGGGACCCCCCCGCTAC	0.711000													32	55					3.62531e-18	3.80073e-18	1	1	0
C12orf63	374467	broad.mit.edu	37	12	97151344	97151344	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:97151344C>T	uc021rcc.1	+	24	3371	c.3293C>T	c.(3292-3294)tCa>tTa	p.S1098L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1098								p.S1098*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATAAAAATTTCAGGATCACCA	0.303000													6	15					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:209113113G>T	uc002vcs.3	-	3	640	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_uc002vct.3_Missense_Mutation_p.R132S|IDH1_uc002vcu.3_Missense_Mutation_p.R132S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								47	45					2.73361e-28	2.91287e-28	1	1	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:29061941T>C	uc021tug.1	+	1		c.231T>C			SUZ12P1_uc002hfp.3_Non-coding_Transcript|SUZ12P1_uc002hfq.3_Non-coding_Transcript					Homo sapiens suppressor of zeste 12 homolog pseudogene (SUZ12P), non-coding RNA.																		TAGATTTCTTTGAACTCGGAA	0.303000													5	84					0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	618009	618009	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:618009G>A	uc010wys.2	+	3	399	c.165G>A	c.(163-165)ccG>ccA	p.P55P	CLUL1_uc002kkp.3_Silent_p.P3P|CLUL1_uc002kkq.3_Silent_p.P3P	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	3					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ACATGAAGCCGCCACTCTTGG	0.448000													5	34					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123034427	123034427	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:123034427A>G	uc010nqu.3	+	5	1310	c.1184A>G	c.(1183-1185)gAa>gGa	p.E395G	XIAP_uc004etx.3_Missense_Mutation_p.E395G|XIAP_uc010nqv.3_Missense_Mutation_p.E21G	NM_001204401	NP_001191330	P98170	XIAP_HUMAN	Homo sapiens X-linked inhibitor of apoptosis (XIAP), transcript variant 2, mRNA.	395					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ATAATGGAGGAAAAAATTCAG	0.368000									X-linked Lymphoproliferative syndrome				31	5					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4185446	4185446	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:4185446G>A	uc003smx.3	+	28	4460	c.4321G>A	c.(4321-4323)Gac>Aac	p.D1441N	SDK1_uc010kso.3_Missense_Mutation_p.D717N|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1441	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACAGCCACCGACCTGGCCCC	0.667000													93	48					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114182852	114182852	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:114182852G>A	uc001por.1	+	4	712	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	NNMT_uc001pos.1_Missense_Mutation_p.G150R	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	150					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCAGCCACTGGGGGCCGTCCC	0.602000													82	71					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267032	48267032	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:48267032C>G	uc001ngs.1	+	0	377	c.377C>G	c.(376-378)aCc>aGc	p.T126S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCTACACCACCATCATGAAC	0.498000													6	87					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952180	85952180	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:85952180G>A	uc002fjh.3	+	6	816	c.759G>A	c.(757-759)ccG>ccA	p.P253P		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	253					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGCGCTTCCCGCCGGCCGACG	0.741000													14	5					0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112270041	112270041	+	Missense_Mutation	SNP	C	C	T	rs142952172		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:112270041C>T	uc001ebo.2	-	1	625	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	FAM212B_uc001ebp.2_Missense_Mutation_p.R133Q	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	Homo sapiens family with sequence similarity 212, member B (FAM212B), transcript variant 1, mRNA.	148										cervix(1)|endometrium(1)	2						ATTCCGGCCCCGGGACATCAA	0.587000													34	37					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220072487	220072487	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:220072487C>G	uc002vka.3	+	2	440	c.268C>G	c.(268-270)Cag>Gag	p.Q90E	ZFAND2B_uc010zkt.2_Missense_Mutation_p.Q90E|ZFAND2B_uc010fwd.1_Missense_Mutation_p.Q90E|ZFAND2B_uc002vjz.1_Missense_Mutation_p.Q90E|ZFAND2B_uc002vkb.1_5'UTR	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	90						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATCCAGCACAGCAAAAACG	0.557000													10	82					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34827130	34827130	+	Silent	SNP	G	G	A	rs73419681	by1000genomes	TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:34827130G>A	uc003oju.4	+	13	3231	c.2997G>A	c.(2995-2997)gaG>gaA	p.E999E	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	999										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGGCAGGGAGACTGCTGTGA	0.552000													30	48					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154574313	154574313	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:154574313A>C	uc001ffh.3	-	1	1047	c.805T>G	c.(805-807)Tcc>Gcc	p.S269A	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.S269A|ADAR_uc001ffi.3_Missense_Mutation_p.S269A|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	269					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGTTTGGGGATCCTTGGCTA	0.488000													4	188					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4732911	4732911	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:4732911C>T	uc002cxa.3	+	13	1583	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	MGRN1_uc002cwz.3_Silent_p.G482G|MGRN1_uc010uxo.2_Silent_p.G460G|MGRN1_uc010uxp.2_Silent_p.G460G|MGRN1_uc010btw.3_Silent_p.G461G|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	482					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CACTGGGTGGCGCAGAGCTGG	0.701000													12	13					0	0	1	0	0
BCRP3	644165	broad.mit.edu	37	22	25042998	25042998	+	Missense_Mutation	SNP	A	A	G	rs142975468	by1000genomes	TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr22:25042998A>G	uc011ajv.2	+	3	728	c.371A>G	c.(370-372)cAt>cGt	p.H124R	POM121L10P_uc003abc.2_Non-coding_Transcript					Homo sapiens breakpoint cluster region pseudogene 3 (BCRP3), non-coding RNA.																		GCCCTACATCATGCGCCAGTG	0.632000													4	42					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													3	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062722	9062722	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:9062722T>C	uc002mkp.3	-	2	24928	c.24724A>G	c.(24724-24726)Acc>Gcc	p.T8242A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8244	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						ACAAGAGTGGTCATCTCTGAG	0.498000													26	25					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49898432	49898432	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:49898432G>A	uc002pnm.2	+	3	423	c.218G>A	c.(217-219)cGc>cAc	p.R73H	CCDC155_uc002pnl.2_Missense_Mutation_p.R73H|CCDC155_uc010emx.2_Missense_Mutation_p.R46H	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	73						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CAGGATGCACGCCTCCAAACA	0.622000													5	47					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61178544	61178544	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:61178544G>A	uc001nrq.3	-	8	1421	c.1287C>T	c.(1285-1287)agC>agT	p.S429S	CPSF7_uc001nrp.3_Silent_p.S472S|CPSF7_uc001nrr.3_Silent_p.S420S	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	429	Arg-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CCCGGGACCGGCTAGGTGACC	0.502000													46	68					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3356865	3356865	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:3356865T>C	uc002wii.2	-	3	419	c.368A>G	c.(367-369)cAt>cGt	p.H123R	C20orf194_uc002wik.2_5'Flank|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	123										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ATTTCTCCAATGTGCCACATA	0.368000													35	27					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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	38					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580131	82580131	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:82580131T>C	uc003uhx.2	-	5	10062	c.9773A>G	c.(9772-9774)gAg>gGg	p.E3258G	PCLO_uc003uhv.2_Missense_Mutation_p.E3258G|PCLO_uc010lec.3_Missense_Mutation_p.E223G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3189					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.L3257L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCAGCTCCTCCAACTTTTT	0.453000													10	136					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128628194	128628194	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:128628194C>G	uc003ela.4	+	14	1695	c.1493C>G	c.(1492-1494)gCc>gGc	p.A498G	ACAD9_uc011bks.2_Missense_Mutation_p.A375G|ACAD9_uc003elb.3_Missense_Mutation_p.A375G|ACAD9_uc003ele.3_Missense_Mutation_p.A150G	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 9 (ACAD9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	498						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGGACAGTGCCAACAAGTTT	0.587000													41	86					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37838730	37838730	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:37838730C>T	uc002ogb.3	+	4	538	c.269C>T	c.(268-270)gCg>gTg	p.A90V	HKR1_uc002ofx.3_5'UTR|HKR1_uc002ofy.3_5'UTR|HKR1_uc002ofz.3_Missense_Mutation_p.A71V|HKR1_uc002oga.3_Missense_Mutation_p.A71V|HKR1_uc010xto.2_Missense_Mutation_p.A71V|HKR1_uc002ogc.3_Missense_Mutation_p.A71V|HKR1_uc010xtp.2_Missense_Mutation_p.A29V|HKR1_uc002ogd.3_Missense_Mutation_p.A29V	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	90	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGAGGGGAAGCGCCCTGGAGA	0.493000													3	52					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170030513	170030513	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170030513T>C	uc002ues.3	-	55	11143	c.10930A>G	c.(10930-10932)Aat>Gat	p.N3644D		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3644	LDL-receptor class A 29.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCGGCCATTAGCACACCGA	0.542000													33	45					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47897211	47897211	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:47897211G>A	uc003tny.2	-	27	4616	c.4582C>T	c.(4582-4584)Cct>Tct	p.P1528S		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1528	REJ.				cell-cell adhesion	integral to membrane		p.A1527A(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCTGCCCAGGAGCTTGGCTC	0.493000													14	15					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100386	8100386	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:8100386G>A	uc001ijz.3	+	2	917	c.360G>A	c.(358-360)acG>acA	p.T120T	GATA3_uc001ika.3_Silent_p.T120T	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	120					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.T120T(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTCCAAGACGTCCATCCACC	0.697000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						75	117					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151461908	151461908	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:151461908G>C	uc003ezc.3	+	2	509	c.389G>C	c.(388-390)aGa>aCa	p.R130T	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	130						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCTGAATAGATGGACGGCA	0.358000													41	58					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95542422	95542422	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:95542422G>A	uc002stw.1	+	5	1309	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	406					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.A406P(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGACATTGCCGCCATGACCAA	0.592000													18	34					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88961080	88961080	+	Missense_Mutation	SNP	C	C	G	rs61754389		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:88961080C>G	uc001pcs.3	+	2	1208	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	376				TMSQVQ -> HVPGT (in Ref. 2; AAA61241).	eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AACAATGTCCCAGGTACAGGG	0.413000													15	103					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13698931	13698931	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:13698931G>A	uc001ims.3	-	21	3010	c.2658C>T	c.(2656-2658)ggC>ggT	p.G886G	FRMD4A_uc009xjf.1_Silent_p.G886G	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	886						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CGTCGCCGCCGCCGCCGCGCC	0.716000													4	8					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65684524	65684524	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr15:65684524C>T	uc002aou.1	-	10	2280	c.2070G>A	c.(2068-2070)gtG>gtA	p.V690V	IGDCC4_uc002aot.1_Silent_p.V278V	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	690	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGACAGGCCCCACATCCCAAG	0.622000													52	84					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	29					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172634805	172634805	+	Silent	SNP	C	C	A	rs80358236		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:172634805C>A	uc001gis.3	+	3	652	c.495C>A	c.(493-495)acC>acA	p.T165T	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	165					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGGAAGACACCTATGGAATTG	0.428000													5	68					4.096e-09	4.22603e-09	1	1	0
CDH4	1002	broad.mit.edu	37	20	60498709	60498709	+	Silent	SNP	G	G	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:60498709G>T	uc002ybn.2	+	9	1663	c.1575G>T	c.(1573-1575)gtG>gtT	p.V525V	CDH4_uc002ybr.2_Silent_p.V488V|CDH4_uc002ybp.2_Silent_p.V451V	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	525	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCGGCACCGTGCTGACCACGT	0.622000													3	51					1	1	1	1	0
AK310441	0	broad.mit.edu	37	1	148889678	148889678	+	RNA	SNP	C	C	T	rs4950650		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:148889678C>T	uc009wkv.1	+	6		c.765C>T								Homo sapiens cDNA, FLJ17483.																		ACCCTATATGCCTGCGTCTAA	0.398000													4	59					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42297083	42297083	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr8:42297083C>T	uc003xpe.3	-	6	1188	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SLC20A2_uc010lxl.3_Silent_p.E273E|SLC20A2_uc010lxm.3_Silent_p.E273E|SLC20A2_uc011lcu.2_Silent_p.E75E	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	273					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACCTGGTAGCTCTTTAAATA	0.517000													103	140					0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56546841	56546841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:56546841C>T	uc003jrk.4	+	8	1111	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	GPBP1_uc003jrh.4_Nonsense_Mutation_p.R345*|GPBP1_uc003jri.4_Nonsense_Mutation_p.R174*|GPBP1_uc003jrj.4_Nonsense_Mutation_p.R337*|GPBP1_uc021xyv.1_Nonsense_Mutation_p.R174*	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GGATATAAACCGAAACTTCGA	0.353000													15	29					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:31832672_31832674delAAG	uc010jti.3	-	18	1911_1913	c.1845_1847delCTT	c.(1843-1848)ttcttt>ttt	p.615_616FF>F	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_In_Frame_Del_p.539_540FF>F|SLC44A4_uc011dom.2_In_Frame_Del_p.573_574FF>F	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	615						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567													8	17	---	---	---	---					
HLA-DRB5	3127	broad.mit.edu	37	6	32557612	32557612	+	Splice_Site	DEL	G	G	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:32557612delG	uc003obk.4	-	1	1	c.-93_splice	c.e1-1		HLA-DRB5_uc021yvx.1_Splice_Site|HLA-DRB5_uc003obp.4_Splice_Site	NM_002125	NP_002116	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 5 (HLA-DRB5), mRNA.						antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCAAGTTATAGGGAGGAAGTT	0.507													3	5	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90565237	90565237	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:90565237delA	uc003pnr.3	+	4	470	c.274delA	c.(274-276)aaafs	p.K92fs	CASP8AP2_uc003pns.2_Frame_Shift_Del_p.K92fs|CASP8AP2_uc003pnt.3_Frame_Shift_Del_p.K92fs|CASP8AP2_uc011dzz.2_Frame_Shift_Del_p.K92fs	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	92					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGAGCTGATGAAAAAATTTAA	0.279													2	4	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:114270016_114270018delCAG	uc003vhb.3	+	4	927_929	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_In_Frame_Del_p.Q216del|FOXP2_uc003vha.3_In_Frame_Del_p.Q99del|FOXP2_uc011kmv.2_In_Frame_Del_p.Q191del|FOXP2_uc011kmu.2_In_Frame_Del_p.Q208del|FOXP2_uc010ljz.2_In_Frame_Del_p.Q99del|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_In_Frame_Del_p.Q191del|FOXP2_uc003vgx.2_In_Frame_Del_p.Q191del|FOXP2_uc003vhc.3_In_Frame_Del_p.Q216del|FOXP2_uc003vhd.3_In_Frame_Del_p.Q191del	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													7	70	---	---	---	---					
H2AFX	3014	broad.mit.edu	37	11	118965808	118965809	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:118965808_118965809insC	uc001pvg.3	-	0	369_370	c.296_297insG	c.(295-297)ggcfs	p.G99fs		NM_002105	NP_002096	P16104	H2AX_HUMAN	Homo sapiens H2A histone family, member X (H2AFX), mRNA.	99					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCGTCACGCCGCCCAGCAGCTT	0.693								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	191	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937745	76937745	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:76937745delT	uc004ecp.4	-	8	3235	c.3003delA	c.(3001-3003)aaafs	p.K1001fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K963fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K786fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K933fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K972fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K946fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1001					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	TTTTAATTACTTTTTTCTTAA	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						52	8	---	---	---	---					
