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
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000													4	298					0	0	0.009096	0	0
PRPF8	10594	broad.mit.edu	37	17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr17:1577065G>A	uc002fte.3	-	21	3535	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1141						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCATGAGGCGCATGCGGGCA	0.517000													5	159					0	0	0.001168	0	0
TPTE	7179	broad.mit.edu	37	21	11014952	11014952	+	RNA	SNP	A	A	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr21:11014952A>T	uc002yis.1	-	6		c.1494T>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACATTGTCTACATTGCAGAA	0.333000													3	42					0	0	0.004672	0	0
TPO	7173	broad.mit.edu	37	2	1499888	1499888	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr2:1499888G>A	uc002qwr.3	+	11	2220	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.G712S|TPO_uc002qwx.3_Missense_Mutation_p.G655S|TPO_uc002qwu.3_Missense_Mutation_p.G655S|TPO_uc010yio.2_Missense_Mutation_p.G539S|TPO_uc010yip.2_Missense_Mutation_p.G712S|TPO_uc002qwy.1_Missense_Mutation_p.G52S|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	712					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.G712D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTTCCAAGTCGGCAAATTCCC	0.562000													7	42					0	0	0.010729	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	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.	3445								p.K3445K(8)		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)		ggaaggggaaaaaaagaaggg	0.413000													5	93					0	0	0.001168	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224962	26224962	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:26224962T>C	uc003sxq.3	+	3	1916	c.1644T>C	c.(1642-1644)ccT>ccC	p.P548P		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	548					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.I547F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGCATATCCCTTTTTCTGTAG	0.418000													3	143					0	0	0.004672	0	0
MAML3	55534	broad.mit.edu	37	4	140811093	140811093	+	Silent	SNP	C	C	T	rs72161425		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:140811093C>T	uc021xsg.1	-	1	2249	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	499	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.527000													3	56					0	0	0.009096	0	0
RPS19BP1	91582	broad.mit.edu	37	22	39925565	39925565	+	Missense_Mutation	SNP	T	T	C	rs138779327	by1000genomes	TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr22:39925565T>C	uc003ayb.3	-	3	460	c.343A>G	c.(343-345)Aag>Gag	p.K115E		NM_194326	NP_919307	Q86WX3	AROS_HUMAN	Homo sapiens ribosomal protein S19 binding protein 1 (RPS19BP1), mRNA.	115						nucleolus|nucleoplasm				endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					CCCTCAGCCTTCTTCTTCTTG	0.607000											OREG0026578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	121					0	0	0.004672	0	0
FGF5	2250	broad.mit.edu	37	4	81207632	81207632	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:81207632C>G	uc003hmd.3	+	2	850	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	205					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	p.R205Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GTGCAGCCCCCGGGTTAAACC	0.463000													49	88					0	0	0.014410	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195379	18195379	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr11:18195379T>C	uc001mnv.1	+	0	996	c.576T>C	c.(574-576)tgT>tgC	p.C192C		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	192						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTTCTCTGTGTTTCCAGCC	0.522000													5	157					0	0	0.000602	0	0
KLK10	5655	broad.mit.edu	37	19	51518742	51518742	+	Silent	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr19:51518742G>A	uc002pva.3	-	4	729	c.609C>T	c.(607-609)gtC>gtT	p.V203V	KLK10_uc002puy.3_Silent_p.V203V|KLK10_uc002puz.3_Silent_p.V203V	NM_001077500	NP_665895	O43240	KLK10_HUMAN	Homo sapiens kallikrein-related peptidase 10 (KLK10), transcript variant 3, mRNA.	203	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGGGTAGAAGACCTCACACT	0.552000													111	220					0	0	0.014410	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26094525	26094525	+	Missense_Mutation	SNP	T	T	C	rs62211580	by1000genomes	TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr20:26094525T>C	uc002wvj.4	-	0	153	c.98A>G	c.(97-99)cAc>cGc	p.H33R						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.									p.H33R(1)									CTGCTGGTGGTGGGTGCTGGG	0.393000													5	26					0	0	0.008291	0	0
JHDM1D	80853	broad.mit.edu	37	7	139824520	139824520	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:139824520T>G	uc003vvm.3	-	6	956	c.952A>C	c.(952-954)Agt>Cgt	p.S318R		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	318	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACAGATGAACTCCAAGATTCA	0.358000													18	32					0	0	0.006122	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|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)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								25	44					0	0	0.006320	0	0
APPL1	26060	broad.mit.edu	37	3	57291436	57291436	+	Silent	SNP	A	A	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr3:57291436A>G	uc003dio.3	+	14	1557	c.1410A>G	c.(1408-1410)aaA>aaG	p.K470K	APPL1_uc010hnb.3_Silent_p.K470K|APPL1_uc011bey.1_Silent_p.K453K	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	470					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCAGGCAAAAGCCTTTGGCC	0.493000													3	98					0	0	0.004672	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186136	127186136	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:127186136C>A	uc004eum.3	-	0	247	c.50G>T	c.(49-51)gGt>gTt	p.G17V		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	17						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GAGTCCTGAACCATTGTCAAA	0.433000													40	64					2.87052e-16	4.34258e-16	0.005524	1	0
TKTL2	84076	broad.mit.edu	37	4	164393959	164393959	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:164393959G>C	uc003iqp.4	-	0	1089	c.928C>G	c.(928-930)Cca>Gca	p.P310A		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	310						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				taagcaggtggggaggtcatt	0.408000													13	205					0	0	0.002450	0	0
C3	718	broad.mit.edu	37	19	6686853	6686853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr19:6686853G>A	uc002mfm.3	-	27	3612	c.3550C>T	c.(3550-3552)Cag>Tag	p.Q1184*		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1184					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TAGGATCTCTGTAGGTTCATG	0.512000													21	119					0	0	0.010504	0	0
ENPEP	2028	broad.mit.edu	37	4	111441429	111441429	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:111441429C>G	uc003iab.4	+	9	1976	c.1634C>G	c.(1633-1635)cCt>cGt	p.P545R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	545					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATGGGTTATCCTGTGCTTAAC	0.428000													34	36					0	0	0.013726	0	0
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr16:84476138C>T	uc010chj.3	+	14	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_uc002fhx.3_Missense_Mutation_p.A445V|ATP2C2_uc002fhy.3_Missense_Mutation_p.A462V|ATP2C2_uc002fhz.3_Missense_Mutation_p.A294V	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552000													8	363					0	0	0.008291	0	0
ADAM22	53616	broad.mit.edu	37	7	87757957	87757957	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:87757957A>G	uc003ujn.3	+	8	934	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	ADAM22_uc003uji.2_Missense_Mutation_p.Y239C|ADAM22_uc003ujj.2_Missense_Mutation_p.Y240C|ADAM22_uc003ujk.2_Missense_Mutation_p.Y240C|ADAM22_uc003ujl.2_Missense_Mutation_p.Y240C|ADAM22_uc003ujm.3_Missense_Mutation_p.Y240C|ADAM22_uc003ujo.3_Missense_Mutation_p.Y240C|ADAM22_uc003ujp.1_Missense_Mutation_p.Y292C	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	240	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAAACCAAATACATTGAACTG	0.403000													12	117					0	0	0.003163	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			75	17					0	0	0.014410	0	0
PUS7L	83448	broad.mit.edu	37	12	44149037	44149037	+	Silent	SNP	A	A	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr12:44149037A>G	uc001rns.4	-	1	92	c.12T>C	c.(10-12)gaT>gaC	p.D4D	PUS7L_uc001rnq.4_Silent_p.D4D|PUS7L_uc001rnr.4_Silent_p.D4D|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	4					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TATAATCTGTATCTTCTTCCA	0.333000													5	28					0	0	0.000602	0	0
MYOM1	8736	broad.mit.edu	37	18	3188890	3188890	+	Silent	SNP	C	C	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr18:3188890C>T	uc002klp.3	-	3	961	c.627G>A	c.(625-627)acG>acA	p.T209T	MYOM1_uc002klq.3_Silent_p.T209T	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	209	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T209T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCTGGATGCCGTGGACTGCT	0.522000													5	227					0	0	0.001984	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070069	141070069	+	Silent	SNP	C	C	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr9:141070069C>T	uc010ncq.3	+	3	1149	c.309C>T	c.(307-309)ccC>ccT	p.P103P						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		GGTACGTGCCCCGCGCTGTGC	0.711000													4	96					0	0	0.001168	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498215	32498215	+	Silent	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr22:32498215G>A	uc003amc.3	+	12	1906	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	SLC5A1_uc011alz.2_Silent_p.P425P	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	552					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.P552P(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AACCCATTCCGGATGTGCATG	0.403000													7	209					0	0	0.004482	0	0
TTLL7	79739	broad.mit.edu	37	1	84356051	84356051	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:84356051T>C	uc001djc.3	-	18	2718	c.2322A>G	c.(2320-2322)ttA>ttG	p.L774L	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	774					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GACTCCAGAGTAAGCGATTAA	0.378000													27	31					0	0	0.010818	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705423	189705423	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr3:189705423C>A	uc011bsk.2	-	4	1379	c.991G>T	c.(991-993)Gcc>Tcc	p.A331S	LEPREL1_uc003fsg.3_Missense_Mutation_p.A150S	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	331					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAGATAGGCTTTGGCACAC	0.468000													25	92					8.58068e-18	1.33226e-17	0.007291	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49791051	49791051	+	Silent	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr10:49791051G>A	uc001jgu.3	-	1	478	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ARHGAP22_uc001jgt.3_Silent_p.L61L|ARHGAP22_uc010qgl.2_Silent_p.L61L|ARHGAP22_uc010qgm.2_Silent_p.L67L|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	61	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCACGCAGCACAAACCAG	0.607000													4	226					0	0	0.000602	0	0
ADAD1	132612	broad.mit.edu	37	4	123336616	123336616	+	Silent	SNP	A	A	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:123336616A>T	uc003ieo.3	+	10	1564	c.1332A>T	c.(1330-1332)ccA>ccT	p.P444P	ADAD1_uc003iep.3_Silent_p.P433P|ADAD1_uc003ieq.3_Silent_p.P426P	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	444	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAAAACTTCCAATGTTTTACT	0.378000													62	101					0	0	0.014410	0	0
ANXA9	8416	broad.mit.edu	37	1	150955565	150955565	+	Splice_Site	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:150955565G>A	uc001ewa.2	+	3	455	c.-15_splice	c.e3-1			NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.						cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTTCCCCAGGGCAACCAGT	0.622000													5	69					0	0	0.001984	0	0
ZNF185	7739	broad.mit.edu	37	X	152083048	152083048	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:152083048T>C	uc011myg.2	+	0	63	c.15T>C	c.(13-15)gcT>gcC	p.A5A	ZNF185_uc011myi.2_Silent_p.A5A|ZNF185_uc011myj.2_Silent_p.A5A|ZNF185_uc011myh.2_Silent_p.A5A|ZNF185_uc011myk.2_Silent_p.A5A|ZNF185_uc010ntv.2_Silent_p.A5A	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	5						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GTATCTCAGCTCTTGGAGGCC	0.547000													7	6					0	0	0.006214	0	0
TRERF1	55809	broad.mit.edu	37	6	42196227	42196227	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr6:42196227delG	uc003ose.2	-	17	4082	c.3519delC	c.(3517-3519)atcfs	p.I1173fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.I1070fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.I921fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.I909fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.I1153fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1153	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGATGGGTTTGATCAGACTCA	0.602													7	400	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr8:144511954_144511956delTGG	uc003yyc.2	-	0	647_649	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H		NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) (MAFA), mRNA.	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(6)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			3	2	---	---	---	---					
FAM157B	100132403	broad.mit.edu	37	9	141107536	141107537	+	In_Frame_Ins	INS	-	-	GCA			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr9:141107536_141107537insGCA	uc011mfe.1	+	1	218_219	c.218_219insGCA	c.(217-219)cgg>cgGCAg	p.85_86insQ		NM_001145249	NP_001138721	P0CG42	F157B_HUMAN	Homo sapiens family with sequence similarity 157, member B (FAM157B), mRNA.	85	Gln-rich.																CGgcagcggcggcagcagcagc	0.545													3	5	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939674	76939674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:76939674delT	uc004ecp.4	-	8	1306	c.1074delA	c.(1072-1074)aaafs	p.K358fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K320fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K303fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	358					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)	TCTCAATCAGTTTTTTTGCCT	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						100	144	---	---	---	---					
