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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr8:41790659T>G	uc010lxb.3	-	17	5623	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_uc010lxc.3_Silent_p.P1693P|KAT6A_uc003xon.4_Silent_p.P1693P	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													5	10					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182780777	182780777	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:182780777C>G	uc002uoi.3	+	10	2732	c.2410C>G	c.(2410-2412)Cca>Gca	p.P804A	SSFA2_uc002uoh.3_Missense_Mutation_p.P804A|SSFA2_uc002uoj.3_Missense_Mutation_p.P804A|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.P651A|SSFA2_uc002uol.3_Missense_Mutation_p.P651A|SSFA2_uc002uom.3_Missense_Mutation_p.P272A	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	804						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTTCATCTCTCCATCATCTGT	0.502000													3	56					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681544	3681544	+	Silent	SNP	C	C	T			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr11:3681544C>T	uc001lye.1	+	2	896	c.795C>T	c.(793-795)taC>taT	p.Y265Y	ART1_uc009yeb.1_Silent_p.Y265Y	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	265					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCCGCATCTACCTCCGAGCCC	0.607000													7	86					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534214	152534214	+	Silent	SNP	G	G	A	rs74320183	by1000genomes	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:152534214G>A	uc021vrb.1	-	31	3668	c.3639C>T	c.(3637-3639)gtC>gtT	p.V1213V	NEB_uc002txu.3_Silent_p.V1213V|NEB_uc021vrc.1_Silent_p.V1213V|NEB_uc010fnx.3_Silent_p.V1213V|NEB_uc021vrd.1_Silent_p.V1213V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1213					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAACTTTTTCGACGTCGAGAC	0.458000													26	208					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49425070	49425070	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr12:49425070T>G	uc001rta.4	-	38	13418	c.13418A>C	c.(13417-13419)cAa>cCa	p.Q4473P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4473					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGTGCTGAGTTGCACATTCTT	0.617000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			25	105					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051424	96051424	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr9:96051424C>A	uc004ati.1	+	19	4499	c.4499C>A	c.(4498-4500)gCc>gAc	p.A1500D	WNK2_uc011lud.1_Missense_Mutation_p.A1463D|WNK2_uc004atj.3_Missense_Mutation_p.A1463D|WNK2_uc004atk.3_Missense_Mutation_p.A1100D|WNK2_uc004atl.1_Missense_Mutation_p.A58D	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1500					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGAGGCTGCCTCAACCAGG	0.687000													3	31					0.115264	0.115264	1	1	0
SCN3A	6328	broad.mit.edu	37	2	166012411	166012411	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:166012411T>C	uc002ucx.3	-	9	1526	c.1034A>G	c.(1033-1035)cAg>cGg	p.Q345R	SCN3A_uc002ucy.3_Missense_Mutation_p.Q345R|SCN3A_uc002ucz.3_Missense_Mutation_p.Q345R|SCN3A_uc002uda.1_Missense_Mutation_p.Q214R|SCN3A_uc002udb.1_Missense_Mutation_p.Q214R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	345						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCTGGACACTGGCTATAAGA	0.408000													6	82					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24460805	24460805	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:24460805G>C	uc001biq.2	-	3	630	c.427C>G	c.(427-429)Ccc>Gcc	p.P143A	IL22RA1_uc010oeg.1_Missense_Mutation_p.P35A|IL22RA1_uc009vrb.2_Missense_Mutation_p.P7A|IL22RA1_uc010oeh.2_Missense_Mutation_p.P143A	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	143	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ATTGGCGTGGGGGTAGGATGA	0.522000													12	48					0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159603573	159603573	+	Silent	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:159603573G>A	uc003iqb.3	+	2	734	c.402G>A	c.(400-402)aaG>aaA	p.K134K	ETFDH_uc011cjg.2_Silent_p.K87K|ETFDH_uc010iqr.3_Intron|ETFDH_uc011cjh.2_Silent_p.K73K|ETFDH_uc010iqs.3_Silent_p.K73K	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	134					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GGAAAGAGAAGGGGGTATGAA	0.388000													21	55					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123107220	123107220	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123107220A>G	uc003ieh.3	+	4	433	c.388A>G	c.(388-390)Aca>Gca	p.T130A	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	130					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTATACATCACAGTCAATGA	0.333000													16	56					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	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								19	30					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106364007	106364007	+	Splice_Site	SNP	T	T	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr14:106364007T>C	uc021ser.1	-	3662		c.56137_splice	c.e3662+1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		CAGTGCTGTATAGGGGGCTCC	0.547000													3	10					0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400799	195400799	+	Missense_Mutation	SNP	G	G	A	rs7635172	by1000genomes	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr3:195400799G>A	uc003fuw.3	+	8	1289	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	SDHAP2_uc011btb.1_Silent_p.L179L|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CAAACTCGCTGTTGGACCTGG	0.597000													5	48					0	0	1	0	0
CALHM2	51063	broad.mit.edu	37	10	105209278	105209278	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:105209278G>A	uc001kxa.3	-	2	1032	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	CALHM2_uc001kxc.3_Missense_Mutation_p.L141F|CALHM2_uc001kxb.3_Missense_Mutation_p.L141F|CALHM2_uc001kxd.1_Missense_Mutation_p.L141F	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	141						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGGCCGTGAGTGAGGAAGGG	0.607000													30	108					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72969169	72969169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr8:72969169G>A	uc003xza.3	-	9	1352	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	393						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTCAGGTCGCAGATTTTTT	0.294000													7	10					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276052	186276052	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:186276052A>C	uc001gru.4	+	6	1252	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T360P|PRG4_uc009wyl.3_Missense_Mutation_p.T308P|PRG4_uc009wym.3_Missense_Mutation_p.T267P|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T401P(8)|p.T400T(3)|p.T400>?(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.642000													9	162					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:87725488G>A	uc003pli.3	+	1	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	HTR1E_uc021zcg.1_Missense_Mutation_p.V146I	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	146					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.V146I(4)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GATCCTTACCGTCTGGACCAT	0.582000													8	124					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414259	68414259	+	RNA	SNP	C	C	T			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr9:68414259C>T	uc004aex.3	+	0		c.814C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ccacagtggcctcaaagaact	0.483000													3	7					0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	G	A	rs150520281	by1000genomes	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000													4	15					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123336539	123336539	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123336539G>A	uc003ieo.3	+	10	1487	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	ADAD1_uc003iep.3_Missense_Mutation_p.G408R|ADAD1_uc003ieq.3_Missense_Mutation_p.G401R	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	419	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						TCTAGGTGATGGGAATTGCAG	0.348000													9	59					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45400708	45400708	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr14:45400708C>A	uc001wvq.3	-	3	1626	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	KLHL28_uc001wvr.3_Missense_Mutation_p.E460D	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	460										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGCAACCATCTCCCAGGAGT	0.393000													3	39					6.4e-05	6.8129e-05	1	1	0
TP53	7157	broad.mit.edu	37	17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr17:7578449C>T	uc002gim.2	-	4	675	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_uc002gig.1_Missense_Mutation_p.A161T|TP53_uc002gih.3_Missense_Mutation_p.A161T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.A29T|TP53_uc010cnf.1_Missense_Mutation_p.A29T|TP53_uc002gii.1_Missense_Mutation_p.A29T|TP53_uc010cni.1_Missense_Mutation_p.A161T|TP53_uc010cnh.1_Missense_Mutation_p.A161T|TP53_uc002gij.2_Missense_Mutation_p.A161T|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.A68T|TP53_uc002gio.2_Missense_Mutation_p.A29T|TP53_uc010vug.2_Missense_Mutation_p.A122T	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A161T(109)|p.A161D(9)|p.0?(8)|p.A161V(8)|p.M160I(6)|p.A161fs*9(6)|p.M160fs*10(5)|p.A161A(5)|p.M160K(4)|p.M160V(4)|p.R156_I162delRVRAMAI(4)|p.M160L(3)|p.A68T(3)|p.A29T(3)|p.V157_C176del20(2)|p.A161fs*19(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.A161fs*10(2)|p.R156_A161del(2)|p.A161fs*20(2)|p.M160_A161>IS(2)|p.A161fs*8(2)|p.A161fs*7(2)|p.T155_A161delTRVRAMA(2)|p.A161S(2)|p.A161P(2)|p.V157_I162delVRAMAI(2)|p.A161F(2)|p.A159_Q167delAMAIYKQSQ(2)|p.M160T(1)|p.R156fs*18(1)|p.V157fs*9(1)|p.V157_M160delVRAM(1)|p.A161G(1)|p.S149fs*72(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.R158fs*8(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)		TTGTAGATGGCCATGGCGCGG	0.632000		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)			54	37					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr21:14414844T>C	uc002yiy.3	+	1		c.281T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ACTGGGCCTGTGCCAATGGCC	0.433000													3	44					0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400795	195400795	+	Missense_Mutation	SNP	C	C	T	rs7615357	by1000genomes	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr3:195400795C>T	uc003fuw.3	+	8	1285	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GGGGCAAACTCGCTGTTGGAC	0.592000													5	50					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30653858	30653858	+	Silent	SNP	A	A	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:30653858A>C	uc001ivb.4	-	8	1696	c.324T>G	c.(322-324)ggT>ggG	p.G108G	MTPAP_uc001ivd.2_Non-coding_Transcript|DQ589067_uc001ive.1_5'Flank|DQ593032_uc001ivg.2_5'Flank	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						cacccaccccacccccacccc	0.642000													5	13					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118554864	118554874	+	Frame_Shift_Del	DEL	ATCTGGCAGAA	ATCTGGCAGAA	-			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:118554864_118554874delATCTGGCAGAA	uc001ehk.2	-	29	4477_4487	c.4409_4419delTTCTGCCAGAT	c.(4408-4419)attctgccagatfs	p.I1470fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1470						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCTTGATCATCTGGCAGAATAATTTGATC	0.336													7	40	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:181680102_181680103delAG	uc009wxt.3	+	7	1263_1264	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.K356fs	CACNA1E_uc001gow.3_Frame_Shift_Del_p.K356fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.K356fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													8	153	---	---	---	---					
ZNF281	23528	broad.mit.edu	37	1	200378559	200378559	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:200378559delG	uc001gve.3	-	1	382	c.275delC	c.(274-276)cctfs	p.P92fs	EU250746_uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Frame_Shift_Del_p.P92fs|ZNF281_uc001gvg.1_Frame_Shift_Del_p.P56fs|ZNF281_uc021phb.1_Frame_Shift_Del_p.P92fs	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	92	Poly-Pro.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P93fs*34(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCTGGCGGAGGGGGGGGCTC	0.706													2	4	---	---	---	---					
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:226034840_226034842delCTG	uc001hpm.2	-	23	2945_2947	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													8	236	---	---	---	---					
MOXD1	26002	broad.mit.edu	37	6	132722520	132722520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:132722520delT	uc003qdf.3	-	0	145	c.46delA	c.(46-48)acgfs	p.T16fs		NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	16					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCCGCCGCCGTCCCGGGGAGC	0.746													2	4	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	uc001jcx.4	-	0	234_254	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_uc021pps.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc010qfl.2_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.4_5'UTR	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(2)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													6	2	---	---	---	---					
