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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DNAH1	25981	broad.mit.edu	37	3	52416412	52416412	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:52416412G>A	uc011bef.2	+	49	8143	c.7882G>A	c.(7882-7884)Gtc>Atc	p.V2628I	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2628	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTGAAGAAGGTCCTGCTCAA	0.582000														124			86		0	0	0.014410	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41012689	41012689	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:41012689T>C	uc003jmj.4	-	29	3621	c.3131A>G	c.(3130-3132)gAt>gGt	p.D1044G	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D599G	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1044							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GTTCACCTGATCTTCCAGAGC	0.488000														44			30		0	0	0.009535	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74801804	74801804	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:74801804T>C	uc001dge.2	+	8	1023	c.956T>C	c.(955-957)cTc>cCc	p.L319P	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.L319P|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.L319P|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.L218P	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	218						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATTGCAAAACTCTTGATGGAA	0.353000														43			22		0	0	0.012319	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054104	67054104	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:67054104A>G	uc003dmy.3	+	2	766	c.713A>G	c.(712-714)aAa>aGa	p.K238R	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	238	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATTTTTGCTAAATGCATACGT	0.388000														47			23		0	0	0.014323	0	0
ADCY2	108	broad.mit.edu	37	5	7520914	7520914	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:7520914G>A	uc003jdz.1	+	2	539	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	158					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.A158T(2)|p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATGCGAGACGCCATCATTGC	0.547000														58			50		0	0	0.014410	0	0
LOC646813	646813	broad.mit.edu	37	11	50375318	50375318	+	RNA	SNP	T	C	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr11:50375318T>C	uc001nhe.2	+	2		c.209T>C			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		CTACTATTGATACCAACATGT	0.378000														81			5		0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152280725	152280725	+	Missense_Mutation	SNP	C	G	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:152280725C>G	uc001ezu.1	-	2	6673	c.6637G>C	c.(6637-6639)Gct>Cct	p.A2213P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2213	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAGAGGAAGCTTCATGATGA	0.562000									Ichthyosis					537			10		0	0	0.006214	0	0
KCNB2	9312	broad.mit.edu	37	8	73849587	73849587	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr8:73849587C>T	uc003xzb.3	+	2	2585	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	666					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGGGATGGCACGCTGGAGTAT	0.562000														45			34		0	0	0.012213	0	0
COG3	83548	broad.mit.edu	37	13	46092961	46092961	+	Silent	SNP	T	C	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr13:46092961T>C	uc001vak.3	+	17	2137	c.1995T>C	c.(1993-1995)aaT>aaC	p.N665N	COG3_uc010tfv.2_Silent_p.N502N|COG3_uc010aci.3_Silent_p.N441N	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	Homo sapiens component of oligomeric golgi complex 3 (COG3), mRNA.	665					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi cisterna membrane|Golgi transport complex|cis-Golgi network	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATAGCAACAATGCCTTGATAG	0.393000														76			27		0	0	0.007291	0	0
CTSC	1075	broad.mit.edu	37	11	88042410	88042410	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr11:88042410T>C	uc001pck.4	-	3	663	c.562A>G	c.(562-564)Act>Gct	p.T188A	CTSC_uc001pcl.4_Missense_Mutation_p.T40A	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	188					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGTATGTAGTTGCAGTCCAA	0.388000														47			33		0	0	0.003755	0	0
DNAH5	1767	broad.mit.edu	37	5	13751313	13751313	+	Silent	SNP	G	T	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:13751313G>T	uc003jfd.2	-	64	11127	c.11085C>A	c.(11083-11085)acC>acA	p.T3695T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3695	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAATTTGGTGGTAATGTAGA	0.383000									Kartagener syndrome					88			5		0.00198382	0.00252937	0.001984	1	0
VCL	7414	broad.mit.edu	37	10	75834513	75834513	+	Missense_Mutation	SNP	T	G	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:75834513T>G	uc001jwd.3	+	5	729	c.635T>G	c.(634-636)tTt>tGt	p.F212C	VCL_uc009xrr.3_5'UTR|VCL_uc010qky.1_Missense_Mutation_p.F119C|VCL_uc001jwe.3_Missense_Mutation_p.F212C|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	212	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATGAAGATTTTTGTAACAACT	0.269000														142			7		0	0	0.008291	0	0
WNK1	65125	broad.mit.edu	37	12	999632	999632	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:999632C>T	uc021qss.1	+	21	6885	c.6242C>T	c.(6241-6243)gCg>gTg	p.A2081V	WNK1_uc001qio.4_Missense_Mutation_p.A1821V|WNK1_uc021qst.1_Missense_Mutation_p.A2073V|WNK1_uc001qip.4_Missense_Mutation_p.A1574V|WNK1_uc001qir.4_Missense_Mutation_p.A994V	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1821					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTCCATGGCGGCTCCAACA	0.463000														79			4		0	0	0.001168	0	0
OTOP1	133060	broad.mit.edu	37	4	4228377	4228377	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr4:4228377G>A	uc003ghp.1	-	0	245	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	72					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGCAGCCCCGCCACGAACAC	0.706000														6			4		0	0	0.009096	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1992145	1992145	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:1992145G>A	uc021qsx.1	-	12	1604	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.T346M	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	458	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.T458M(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCCGCCAGCGTTGAGATCTG	0.642000														20			11		0	0	0.013537	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396046	38396046	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr9:38396046C>T	uc022bgy.1	+	0	301	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	ALDH1B1_uc004aay.3_Missense_Mutation_p.R101W	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	101					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TGCCTCTGAGCGGGGCCGGCT	0.647000														86			47		0	0	0.014410	0	0
FMOD	2331	broad.mit.edu	37	1	203316483	203316483	+	Missense_Mutation	SNP	G	C	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:203316483G>C	uc001gzr.3	-	1	1052	c.916C>G	c.(916-918)Cag>Gag	p.Q306E		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	306					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGATCTTCTGCAGCTGGTTG	0.557000														158			5		0	0	0.000602	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	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									43			31		0	0	0.003755	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	Missense_Mutation	SNP	G	A	A	rs142836124	by1000genomes	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr9:141070116G>A	uc010ncq.3	+	3	1196	c.356G>A	c.(355-357)cGc>cAc	p.R119H						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000														76			4		0	0	0.000602	0	0
AKNAD1	254268	broad.mit.edu	37	1	109380254	109380254	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:109380254T>C	uc001dwa.3	-	6	1723	c.1454A>G	c.(1453-1455)tAt>tGt	p.Y485C	AKNAD1_uc010ovb.2_Missense_Mutation_p.Y192C|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	485										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGCTGAAGTATATTTGCTTTC	0.403000														98			12		0	0	0.010729	0	0
LPAR5	57121	broad.mit.edu	37	12	6729924	6729924	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:6729924C>T	uc009zer.2	-	1	772	c.491G>A	c.(490-492)cGt>cAt	p.R164H	LPAR5_uc001qps.2_Missense_Mutation_p.R164H|LPAR5_uc010sff.1_Missense_Mutation_p.R164H|LPAR5_uc021qub.1_Missense_Mutation_p.R164H	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	164						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GTAGCGGCAACGCGAGGGCCT	0.726000														9			4		0	0	0.000602	0	0
SRSF3	6428	broad.mit.edu	37	6	36569524	36569524	+	Silent	SNP	T	C	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr6:36569524T>C	uc003omj.3	+	4	591	c.420T>C	c.(418-420)tcT>tcC	p.S140S	SRSF3_uc003omk.3_Non-coding_Transcript	NM_003017	NP_003008	P84103	SRSF3_HUMAN	Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA.	140	2 X approximate repeats, basic.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GATCGCTGTCTCGGGAGAGAA	0.373000														192			6		0	0	0.003080	0	0
MYOCD	93649	broad.mit.edu	37	17	12666629	12666629	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:12666629G>A	uc002gno.2	+	13	2928	c.2629G>A	c.(2629-2631)Ggg>Agg	p.G877R	MYOCD_uc002gnn.2_Missense_Mutation_p.G829R|MYOCD_uc002gnq.2_Missense_Mutation_p.G553R	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	829					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTAAAAATTGGGAGCGAAGA	0.483000														107			13		0	0	0.001855	0	0
DCST2	127579	broad.mit.edu	37	1	155005617	155005617	+	Missense_Mutation	SNP	A	C	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:155005617A>C	uc001fgm.3	-	1	472	c.392T>G	c.(391-393)cTg>cGg	p.L131R	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	131						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTCTGGTTCAGGGCCAGCTC	0.632000														14			9		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	A	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr22:22664743G>A	uc021wml.1	+	32		c.2843G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGACTAAAGGCAAACAAGGA	0.498000														33			3		0	0	0.004672	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	C	C	rs12485654	by1000genomes	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:195698264T>C	uc003fvx.3	-	10		c.1609A>G			SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		TTTGTCAACATTCGTGACAGA	0.413000														47			3		0	0	0.009096	0	0
ITIH2	3698	broad.mit.edu	37	10	7786812	7786812	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:7786812T>C	uc001ijs.3	+	18	2629	c.2467T>C	c.(2467-2469)Tcc>Ccc	p.S823P		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	823					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAAAGAGATGTCCTTTTCTGT	0.418000														48			23		0	0	0.012319	0	0
KIF9	64147	broad.mit.edu	37	3	47284702	47284702	+	Silent	SNP	A	G	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:47284702A>G	uc010hjp.3	-	16	2152	c.1548T>C	c.(1546-1548)ccT>ccC	p.P516P	KIF9_uc003cqx.3_Silent_p.P516P|KIF9_uc003cqy.3_Intron|KIF9_uc011bat.1_Intron|FLJ39534_uc003cqw.2_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	516					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCCATTCACAGGGCTGCTGG	0.552000														41			3		0	0	0.004672	0	0
LBP	3929	broad.mit.edu	37	20	36983811	36983811	+	Splice_Site	SNP	T	A	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr20:36983811T>A	uc002xic.1	+	5	623	c.588_splice	c.e5+2	p.R196_splice		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	196					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGCAGGGTAAGAAGGTCC	0.572000														35			8		0	0	0.003080	0	0
BICD1	636	broad.mit.edu	37	12	32480873	32480873	+	Missense_Mutation	SNP	A	G	G	rs116296656	by1000genomes	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:32480873A>G	uc001rku.3	+	4	1565	c.1484A>G	c.(1483-1485)aAc>aGc	p.N495S	BICD1_uc001rkv.3_Missense_Mutation_p.N495S|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	495					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCATAGCCAACGAAAATCAC	0.458000														57			29		0	0	0.005443	0	0
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:7577129A>G	uc002gim.2	-	7	1003	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.F270S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.F138S|TP53_uc010cnf.1_Missense_Mutation_p.F138S|TP53_uc002gii.1_Missense_Mutation_p.F138S|TP53_uc010cni.1_Missense_Mutation_p.F270S|TP53_uc010cnh.1_Missense_Mutation_p.F270S|TP53_uc002gij.2_Missense_Mutation_p.F270S|DL476366_uc021tpf.1_5'Flank|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.	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (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.F270C(31)|p.F270L(23)|p.F270S(16)|p.F270Y(10)|p.0?(8)|p.F270V(7)|p.G262_F270delGNLLGRNSF(4)|p.F270I(4)|p.G266_E271delGRNSFE(4)|p.S269N(4)|p.S269C(4)|p.S269S(3)|p.S269G(3)|p.F270fs*72(2)|p.S269fs*21(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.S269fs*34(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.S269_F270insX(1)|p.S269fs*3(1)|p.S269R(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)		ACGCACCTCAAAGCTGTTCCG	0.537000		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)				6			19		0	0	0.007413	0	0
OR10J3	441911	broad.mit.edu	37	1	159284385	159284385	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:159284385C>T	uc010piu.2	-	0	65	c.65G>A	c.(64-66)cGg>cAg	p.R22Q		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R22Q(2)|p.R22L(2)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGTGCTGCCGCCTGAAGCT	0.453000														168			104		0	0	0.014410	0	0
SLC4A7	9497	broad.mit.edu	37	3	27444777	27444777	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:27444777A>G	uc011aww.2	-	14	2395	c.2174T>C	c.(2173-2175)gTg>gCg	p.V725A	SLC4A7_uc011awx.2_Missense_Mutation_p.V712A|SLC4A7_uc021wun.1_Missense_Mutation_p.V601A|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.V708A|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.V597A|SLC4A7_uc011axb.2_Missense_Mutation_p.V712A|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.V597A|SLC4A7_uc010hfl.3_Missense_Mutation_p.V266A|SLC4A7_uc003cdv.3_Missense_Mutation_p.V716A|SLC4A7_uc003cdw.3_Missense_Mutation_p.V592A	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	716						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AATATAACACACAAGGCTGCT	0.378000														77			67		0	0	0.014410	0	0
NBPF1	55672	broad.mit.edu	37	1	16918422	16918424	+	In_Frame_Del	DEL	TTG	-	-	rs9730077	by1000genomes	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:16918422_16918424delTTG	uc009vos.1	-	6	981_983	c.93_95delCAA	c.(91-96)aacaaa>aaa	p.N31del	NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	31			N -> K (in dbSNP:rs9730077).			cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAACTGCTGTTTGTTCTCTGCCA	0.488													---	1124	---	---	15	---					
HNRNPR	10236	broad.mit.edu	37	1	23665036	23665038	+	In_Frame_Del	DEL	CTT	-	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:23665036_23665038delCTT	uc001bgr.4	-	2	380_382	c.221_223delAAG	c.(220-225)gaagga>gga	p.E74del	HNRNPR_uc010odw.2_In_Frame_Del_p.E74del|HNRNPR_uc009vql.3_5'UTR|HNRNPR_uc001bgp.4_In_Frame_Del_p.E74del|HNRNPR_uc001bgs.4_5'UTR|HNRNPR_uc009vqk.3_5'UTR|HNRNPR_uc010odx.2_5'UTR	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	74	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACAGAGCTCCTTCTTCATTAAA	0.365													---	85	---	---	12	---					
NBPF10	100132406	broad.mit.edu	37	1	145299852	145299854	+	In_Frame_Del	DEL	GAG	-	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:145299852_145299854delGAG	uc021oul.1	+	5	936_938	c.901_903delGAG	c.(901-903)gagdel	p.E301del	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_In_Frame_Del_p.E301del|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	301										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)		CCAGCTGGCAGAGAAGAAACAGC	0.468													---	856	---	---	8	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	-	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr4:89618431_89618433delCCT	uc003hrx.3	-	0	591_593	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA.	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													---	202	---	---	7	---					
TNRC18	84629	broad.mit.edu	37	7	5428811	5428812	+	Frame_Shift_Ins	INS	-	C	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr7:5428811_5428812insC	uc003soi.4	-	4	992_993	c.643_644insG	c.(643-645)gagfs	p.E215fs	TNRC18_uc010ksx.1_Frame_Shift_Ins_p.E141fs	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	215							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGAGGCGGCTCCCCGCCGCGG	0.797													---	4	---	---	2	---					
HNRNPC	3183	broad.mit.edu	37	14	21679388	21679414	+	In_Frame_Del	DEL	GTCATCCTCGCCATTGGCGCTGTCTCT	-	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr14:21679388_21679414delGTCATCCTCGCCATTGGCGCTGTCTCT	uc001vzy.3	-	8	1133_1159	c.889_915delAGAGACAGCGCCAATGGCGAGGATGAC	c.(889-915)agagacagcgccaatggcgaggatgacdel	p.RDSANGEDD297del	HNRNPC_uc001vzw.3_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_uc001wad.3_In_Frame_Del_p.RDSANGEDD217del|HNRNPC_uc001vzx.3_Non-coding_Transcript|HNRNPC_uc001vzz.3_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_uc001waa.3_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_uc010ail.3_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_uc010tlq.2_Non-coding_Transcript|HNRNPC_uc001wac.3_In_Frame_Del_p.RDSANGEDD241del|HNRNPC_uc010tlr.2_3'UTR|HNRNPC_uc001wae.3_3'UTR	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA.	297	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	RNA binding|identical protein binding|nucleotide binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GTGCTTAAGAGTCATCCTCGCCATTGGCGCTGTCTCTGTCATCCTCT	0.445													---	187	---	---	63	---					
DMXL2	23312	broad.mit.edu	37	15	51791722	51791724	+	In_Frame_Del	DEL	AAG	-	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr15:51791722_51791724delAAG	uc010ufy.2	-	17	3922_3924	c.3697_3699delCTT	c.(3697-3699)cttdel	p.L1233del	DMXL2_uc002abf.3_In_Frame_Del_p.L1233del|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1233						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTATAGATCTAAGAAGAACCCAT	0.424													---	115	---	---	8	---					
FXR2	9513	broad.mit.edu	37	17	7496341	7496341	+	Frame_Shift_Del	DEL	G	-	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:7496341delG	uc002gia.2	-	12	1854	c.1489delC	c.(1489-1491)cggfs	p.R497fs	SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	497						cytosolic large ribosomal subunit	RNA binding|protein binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAAGTGGGCCGGGGGGCAGGT	0.617													---	81	---	---	14	---					
ENGASE	64772	broad.mit.edu	37	17	77079175	77079177	+	In_Frame_Del	DEL	AGA	-	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:77079175_77079177delAGA	uc002jwv.3	+	7	1120_1122	c.1112_1114delAGA	c.(1111-1116)gagaag>gag	p.K373del	ENGASE_uc002jww.3_In_Frame_Del_p.K79del	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	373	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGTGTCTGGAGAAGAAGGATTT	0.562											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	145	---	---	11	---					
CDC34	997	broad.mit.edu	37	19	537058	537060	+	In_Frame_Del	DEL	CTT	-	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr19:537058_537060delCTT	uc002lov.3	+	3	607_609	c.408_410delCTT	c.(406-411)accttc>acc	p.F137del		NM_004359	NP_004350	P49427	UB2R1_HUMAN	Homo sapiens cell division cycle 34 homolog (S. cerevisiae) (CDC34), mRNA.	137					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCAACACCTTCTCGCCCGCA	0.635													---	72	---	---	42	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	-	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr21:34799292delT	uc002yrp.4	+	3	1162	c.514delT	c.(514-516)tttfs	p.F172fs		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	172	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													---	554	---	---	8	---					
PPP6R2	9701	broad.mit.edu	37	22	50878211	50878212	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr22:50878211_50878212delGT	uc003blb.2	+	20	2632_2633	c.2210_2211delGT	c.(2209-2211)agtfs	p.S737fs	PPP6R2_uc003blc.3_Frame_Shift_Del_p.S737fs|PPP6R2_uc003bky.2_Frame_Shift_Del_p.S711fs|PPP6R2_uc003bla.2_Frame_Shift_Del_p.S711fs|PPP6R2_uc003bkz.2_Frame_Shift_Del_p.S710fs|PPP6R2_uc003bld.2_Frame_Shift_Del_p.S270fs	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	737						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GTGGGTTCCAGTGTGTGGGCAG	0.609													---	28	---	---	7	---					
ATRX	546	broad.mit.edu	37	X	76778848	76778849	+	Frame_Shift_Ins	INS	-	GTATC	GTATC			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chrX:76778848_76778849insGTATC	uc004ecp.4	-	30	6962_6963	c.6730_6731insGATAC	c.(6730-6732)catfs	p.H2244fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.H2206fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.H2029fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2244					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			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)	GTGTTCTTTATGTATCTGAAGG	0.386			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	56	---	---	48	---					
