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
HSPA4	3308	broad.mit.edu	37	5	132400700	132400700	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr5:132400700C>T	uc003kyj.3	+	1	417	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	46					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTAAGAATCGTTCAATTGG	0.343000													6	157					0	0	1	0	0
DCAKD	79877	broad.mit.edu	37	17	43101857	43101857	+	Missense_Mutation	SNP	C	C	T	rs146466512	byFrequency	TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:43101857C>T	uc010daa.1	-	4	812	c.640G>A	c.(640-642)Gct>Act	p.A214T	DCAKD_uc010dab.1_Missense_Mutation_p.A214T|DCAKD_uc002ihx.2_Missense_Mutation_p.A214T	NM_001128631	NP_079095	Q8WVC6	DCAKD_HUMAN	Homo sapiens dephospho-CoA kinase domain containing (DCAKD), transcript variant 2, mRNA.	214					coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				GCAATGGCAGCGAGCCCTGTG	0.617000													23	77					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21374986	21374986	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr13:21374986T>C	uc001unq.4	-	13	1997	c.1961A>G	c.(1960-1962)gAa>gGa	p.E654G		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	654					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATACAGTTTTTCATCCACCAG	0.368000													21	293					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72082746	72082746	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr9:72082746C>T	uc004ahh.2	-	4	1751	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	492	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.R492S(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CACCTTGATCCTGCTTACGGC	0.527000													8	235					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489653	73489653	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:73489653A>G	uc010wsa.2	+	15	2390	c.2198A>G	c.(2197-2199)tAc>tGc	p.Y733C	KIAA0195_uc002jnz.4_Missense_Mutation_p.Y723C|KIAA0195_uc010wsb.2_Missense_Mutation_p.Y363C|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	723					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGACATCTACCCTCTCTCG	0.602000													44	72					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154101784	154101784	+	Silent	SNP	G	G	A			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr1:154101784G>A	uc001fdw.3	-	7	1119	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.C349C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	349						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATATATGGTGCAATTTGGGA	0.368000													11	135					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148840738	148840738	+	Silent	SNP	C	C	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr6:148840738C>G	uc003qme.1	+	9	1393	c.918C>G	c.(916-918)ctC>ctG	p.L306L	SASH1_uc011eeb.1_Silent_p.L67L	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	306							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGTCCGCCCTCTACTCTGGCG	0.542000													39	43					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151129080	151129080	+	Silent	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr3:151129080C>T	uc003eyp.3	+	38	5949	c.5820C>T	c.(5818-5820)ggC>ggT	p.G1940G	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1940	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCCACAGGGCTATACAATGT	0.502000													39	77					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26536378	26536378	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr2:26536378T>G	uc002rhe.4	-	8	1340	c.1340A>C	c.(1339-1341)cAc>cCc	p.H447P	GPR113_uc010yky.1_Missense_Mutation_p.H378P|GPR113_uc002rhb.1_Missense_Mutation_p.H50P|GPR113_uc010eyk.1_Missense_Mutation_p.H248P|GPR113_uc002rhc.1_Missense_Mutation_p.H50P|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	447					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCCACGTGGCCAGCCTT	0.612000													9	23					0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31848757	31848757	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr13:31848757C>A	uc010aaz.3	+	8	882	c.772C>A	c.(772-774)Ccg>Acg	p.P258T	B3GALTL_uc001utn.4_Non-coding_Transcript	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	258					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTCTTTTCTACCGCTTTGTGT	0.413000													5	131					0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104715089	104715089	+	Splice_Site	SNP	G	G	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr7:104715089G>T	uc003vcm.3	+	8	1091	c.557_splice	c.e8-1	p.D186_splice	MLL5_uc010lja.1_Splice_Site_p.D40_splice|MLL5_uc010ljb.1_Splice_Site_p.D186_splice|MLL5_uc003vcl.3_Splice_Site_p.D186_splice|MLL5_uc010ljc.3_Splice_Site_p.D186_splice|MLL5_uc003vco.1_5'Flank|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	186					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TTTGTCTGAAGATGGTGATAC	0.333000													66	130					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86919891	86919891	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chrX:86919891A>G	uc004efa.2	+	9	2235	c.2053A>G	c.(2053-2055)Aac>Gac	p.N685D	KLHL4_uc004efb.2_Missense_Mutation_p.N685D	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	685						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACTTATTTGAACACAGTTGA	0.378000													36	42					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127674746	127674746	+	Silent	SNP	G	G	A	rs78484531	byFrequency	TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr5:127674746G>A	uc003kuu.3	-	25	3790	c.3351C>T	c.(3349-3351)gaC>gaT	p.D1117D	FBN2_uc003kuv.2_Silent_p.D1084D	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1117	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCTGCACTCGTCGATGTCTA	0.458000													45	88					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47247083	47247083	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:47247083C>T	uc002ion.2	+	10	1753	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	B4GALNT2_uc010wlt.1_Missense_Mutation_p.A479V|B4GALNT2_uc010wlu.1_Missense_Mutation_p.A505V	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	565					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTCCAATGTGCCGCATAAAGG	0.512000													4	56					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54011361	54011361	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr10:54011361C>G	uc001jjo.3	+	9	1225	c.1108C>G	c.(1108-1110)Ctg>Gtg	p.L370V	PRKG1_uc001jjm.3_Missense_Mutation_p.L355V|PRKG1_uc009xow.2_Missense_Mutation_p.L73V	NM_006258	NP_006249	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 2, mRNA.	355	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTTCGCCAACCTGAAGCTGTC	0.413000													27	90					0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65147382	65147382	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr11:65147382G>A	uc001odr.1	-	3	313	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SLC25A45_uc009yqi.1_Missense_Mutation_p.R37W|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001ods.1_5'UTR|SLC25A45_uc001odt.1_5'UTR	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	37					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						ACGATGCCCCGGTAGGTGGTC	0.627000													24	58					0	0	1	0	0