#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
FTMT	94033	genome.wustl.edu	37	5	121187726	121187726	+	Missense_Mutation	SNP	G	G	A	rs552079349		TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr5:121187726G>A	ENST00000321339.1	+	1	77	c.68G>A	c.(67-69)cGc>cAc	p.R23H		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	23					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.R23H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGCCCGGTGCGCTGCTGCTTC	0.731																																							0											1	Substitution - Missense(1)	endometrium(1)											15.0	17.0	17.0					5																	121187726		2199	4288	6487	SO:0001583	missense	0			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.68G>A	5.37:g.121187726G>A	ENSP00000313691:p.Arg23His			Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.R23H	ENST00000321339.1	37	c.68	CCDS4128.1	5	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598678	0.28445	.	.	ENSG00000181867	ENST00000321339	T	0.64260	-0.09	2.95	0.964	0.19655	.	.	.	.	.	T	0.39708	0.1088	L	0.27053	0.805	0.09310	N	1	P	0.49358	0.923	B	0.35859	0.212	T	0.24190	-1.0167	9	0.48119	T	0.1	.	5.0449	0.14479	0.0:0.2238:0.5219:0.2543	.	23	Q8N4E7	FTMT_HUMAN	H	23	ENSP00000313691:R23H	ENSP00000313691:R23H	R	+	2	0	FTMT	121215625	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.102000	0.31050	0.217000	0.20800	-0.172000	0.13284	CGC	0	NULL		0.731	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	protein_coding	OTTHUMT00000250884.1	18	21	0	0.00	0	0	G	NM_177478	rs552079349	G->A		121187726	1	no_errors	ENST00000321339	ensembl	human	known	74_37	missense	25	30	7.41	6.25	2	2	SNP	0	A
ERGIC1	57222	genome.wustl.edu	37	5	172342020	172342020	+	Intron	SNP	C	C	G			TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr5:172342020C>G	ENST00000393784.3	+	5	514				ERGIC1_ENST00000523291.1_Intron|ERGIC1_ENST00000326654.2_Missense_Mutation_p.A140G	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1						ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGGTCCAGGCTCCCTGGGGT	0.597																																							0											0													35.0	36.0	36.0					5																	172342020		1327	2309	3636	SO:0001627	intron_variant	0			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.375+179C>G	5.37:g.172342020C>G			Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	NULL	p.A140G	ENST00000393784.3	37	c.419	CCDS34292.1	5	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460683	0.43736	.	.	ENSG00000113719	ENST00000326654	.	.	.	3.1	-3.68	0.04463	.	.	.	.	.	T	0.21186	0.0510	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21381	-1.0247	6	.	.	.	.	5.6102	0.17400	0.0:0.2188:0.4832:0.2981	.	140	Q969X5-3	.	G	140	.	.	A	+	2	0	ERGIC1	172274626	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.708000	0.05035	-0.946000	0.03677	0.655000	0.94253	GCT	0	NULL		0.597	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	protein_coding	OTTHUMT00000252938.3	51	168	0	0.00	0	0	C	NM_020462	0	0		172342020	1	no_errors	ENST00000326654	ensembl	human	putative	74_37	missense	30	126	18.92	7.35	7	10	SNP	0	G
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	367	148	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	292	124	10.37	6.77	34	9	SNP	1	A
C12orf10	60314	genome.wustl.edu	37	12	53700879	53700879	+	Missense_Mutation	SNP	G	G	T			TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr12:53700879G>T	ENST00000267103.5	+	7	1129	c.1077G>T	c.(1075-1077)ttG>ttT	p.L359F	C12orf10_ENST00000549488.1_Missense_Mutation_p.L196F|C12orf10_ENST00000548632.1_Missense_Mutation_p.L284F|AAAS_ENST00000549983.1_5'Flank	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	359					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						AGGGTGCCTTGAGCATGGCCC	0.572																																							0											0													79.0	77.0	78.0					12																	53700879		2202	4300	6502	SO:0001583	missense	0			AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"""melanocyte related gene"", ""melanocyte proliferating gene 1"""	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.1077G>T	12.37:g.53700879G>T	ENSP00000267103:p.Leu359Phe			Missense_Mutation	SNP	pfam_Met-dep_prot_hydro	p.L196F	ENST00000267103.5	37	c.588	CCDS31810.1	12	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227917	0.58777	.	.	ENSG00000139637	ENST00000267103;ENST00000548845;ENST00000545214;ENST00000548632;ENST00000549488	T;T;T	0.52983	0.64;0.64;0.64	5.03	1.94	0.25998	.	0.000000	0.64402	D	0.000005	T	0.62011	0.2393	M	0.81682	2.555	0.58432	D	0.999995	D;D	0.65815	0.995;0.96	P;P	0.62435	0.902;0.81	T	0.61476	-0.7055	10	0.72032	D	0.01	-13.6671	7.3838	0.26870	0.3777:0.0:0.6223:0.0	.	308;359	F5H641;Q9HB07	.;MYG1_HUMAN	F	359;244;308;284;196	ENSP00000267103:L359F;ENSP00000450270:L284F;ENSP00000448433:L196F	ENSP00000267103:L359F	L	+	3	2	C12orf10	51987146	1.000000	0.71417	0.843000	0.33291	0.925000	0.55904	1.293000	0.33353	0.308000	0.22923	-0.140000	0.14226	TTG	0	pfam_Met-dep_prot_hydro		0.572	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C12orf10	protein_coding	OTTHUMT00000406906.1	55	54	0	0.00	0	0	G	NM_021640	0	0		53700879	1	no_errors	ENST00000549488	ensembl	human	putative	74_37	missense	65	39	7.14	4.88	5	2	SNP	1	T
ATRN	8455	genome.wustl.edu	37	20	3451967	3451969	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	GCT	GCT	GCT	-	GCT	GCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr20:3451967_3451969delGCT	ENST00000262919.5	+	1	281_283	c.213_215delGCT	c.(211-216)ccgctg>ccg	p.L77del	ATRN_ENST00000446916.2_In_Frame_Del_p.L77del	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	77	Leu-rich.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						tctcgccgccgctgctgctgctg	0.764																																							0											0									,,	17,913		5,7,453					,,	-0.9	0.0			1	76,1972		27,22,975	no	coding,coding,intron	ATRN	NM_139322.2,NM_139321.2,NM_001207047.1	,,	32,29,1428	A1A1,A1R,RR		3.7109,1.828,3.1229	,,	,,		93,2885				SO:0001651	inframe_deletion	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.213_215delGCT	20.37:g.3451976_3451978delGCT	ENSP00000262919:p.Leu77del		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	In_Frame_Del	DEL	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.L75in_frame_del	ENST00000262919.5	37	c.213_215	CCDS13053.1	20																																																																																			0	NULL		0.764	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	protein_coding	OTTHUMT00000077740.2	25	1	0	0.00	0	0	GCT	NM_139321	0	0		3451969	1	no_errors	ENST00000262919	ensembl	human	known	74_37	in_frame_del	6	10	25	23.08	2	3	DEL	0.487:0.505:0.496	0
MRGPRX3	117195	genome.wustl.edu	37	11	18159677	18159677	+	Missense_Mutation	SNP	C	C	A	rs553083456		TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr11:18159677C>A	ENST00000396275.2	+	3	1289	c.928C>A	c.(928-930)Cag>Aag	p.Q310K		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTGGCTTCCTCAGGAAACCCT	0.572																																							0											0													39.0	42.0	41.0					11																	18159677		2200	4293	6493	SO:0001583	missense	0				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.928C>A	11.37:g.18159677C>A	ENSP00000379571:p.Gln310Lys		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Q310K	ENST00000396275.2	37	c.928	CCDS7830.1	11	.	.	.	.	.	.	.	.	.	.	C	4.585	0.108689	0.08780	.	.	ENSG00000179826	ENST00000396275	T	0.22134	1.97	1.3	-1.19	0.09585	.	1.321610	0.05147	N	0.495389	T	0.19644	0.0472	L	0.40543	1.245	0.09310	N	1	B	0.27117	0.168	B	0.34991	0.193	T	0.40739	-0.9547	10	0.25106	T	0.35	.	7.5212	0.27629	0.0:0.7236:0.2764:0.0	.	310	Q96LB0	MRGX3_HUMAN	K	310	ENSP00000379571:Q310K	ENSP00000379571:Q310K	Q	+	1	0	MRGPRX3	18116253	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-0.701000	0.05075	-0.341000	0.08376	-1.153000	0.01818	CAG	0	NULL		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	protein_coding	OTTHUMT00000389767.1	43	17	0	0.00	0	0	C	NM_054031	0	0		18159677	1	no_errors	ENST00000396275	ensembl	human	known	74_37	missense	34	9	10.53	0.00	4	0	SNP	0.172	A
C17orf64	124773	genome.wustl.edu	37	17	58511280	58511280	+	IGR	SNP	C	C	A			TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr17:58511280C>A	ENST00000269127.4	+	0	950				RPL12P38_ENST00000588627.1_RNA	NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64											breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GTGATATTCCCACTGTGTTTA	0.483																																							0											0																																										SO:0001628	intergenic_variant	0			BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171		17.37:g.58511280C>A			Q8IY87	RNA	SNP	0	NULL	ENST00000269127.4	37	NULL	CCDS32698.2	17																																																																																			0	0		0.483	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RPL12P38	protein_coding	OTTHUMT00000347743.1	54	0	0	0.00	0	0	C	NM_181707	0	0		58511280	-1	no_errors	ENST00000588627	ensembl	human	known	74_37	rna	31	0	11.43	0.00	4	0	SNP	1	A
LYPLA1	10434	genome.wustl.edu	37	8	55014358	55014358	+	Frame_Shift_Del	DEL	G	G	-			TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr8:55014358delG	ENST00000316963.3	-	1	219	c.26delC	c.(25-27)ccgfs	p.P9fs	LYPLA1_ENST00000343231.6_Frame_Shift_Del_p.P9fs|LYPLA1_ENST00000522007.1_Frame_Shift_Del_p.P9fs|LYPLA1_ENST00000519926.1_5'UTR	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	9					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GGCGGGCAGCGGGGTTGACAT	0.731																																							0											0													12.0	11.0	11.0					8																	55014358		2177	4254	6431	SO:0001589	frameshift_variant	0			AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.26delC	8.37:g.55014358delG	ENSP00000320043:p.Pro9fs		O43202|Q9UQF9	Frame_Shift_Del	DEL	pfam_PLipase/COase/thioEstase,pfam_AB_hydrolase_3	p.P9fs	ENST00000316963.3	37	c.26	CCDS6157.1	8																																																																																			0	NULL		0.731	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLA1	protein_coding	OTTHUMT00000378238.1	11	6	0	0.00	0	0	G		0	0		55014358	-1	no_errors	ENST00000316963	ensembl	human	known	74_37	frame_shift_del	4	6	33.33	0.00	2	0	DEL	0.992	0
