#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KMT2C	58508	broad.mit.edu	37	7	151970884	151970884	+	Nonsense_Mutation	SNP	A	A	C			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr7:151970884A>C	ENST00000262189.6	-	7	1136	c.918T>G	c.(916-918)taT>taG	p.Y306*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Y306*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	306					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAGGATAATGATACATCTGGG	0.438																																						ENST00000355193.2																			0											c.(916-918)taT>taG		lysine (K)-specific methyltransferase 2C							180.0	169.0	172.0					7																	151970884		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151970884A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.918T>G	7.37:g.151970884A>C	ENSP00000262189:p.Tyr306*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Y306*	p.Y306*							7	1136	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.918T>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	39	7.689834	0.98434	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.87	3.98	0.46160	.	0.000000	0.40640	N	0.001041	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6852	0.56944	0.0822:0.0:0.9178:0.0	.	.	.	.	X	306	.	ENSP00000262189:Y306X	Y	-	3	2	MLL3	151601817	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.394000	0.66285	1.163000	0.42636	-0.248000	0.11899	TAT		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	143	0	0	0	1	0	8	143				
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		6	138	0	0	0	1	0	6	138				
SF3B1	23451	broad.mit.edu	37	2	198265531	198265531	+	Missense_Mutation	SNP	T	T	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:198265531T>A	ENST00000335508.6	-	18	2717	c.2626A>T	c.(2626-2628)Atg>Ttg	p.M876L	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	876					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAATTACCCATAATTTTCTCA	0.368			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2626-2628)Atg>Ttg		splicing factor 3b, subunit 1, 155kDa							154.0	151.0	152.0					2																	198265531		2202	4299	6501	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265531T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2626A>T	2.37:g.198265531T>A	ENSP00000335321:p.Met876Leu						p.M876L	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2717	-			876					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2626A>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114269	0.56505	.	.	ENSG00000115524	ENST00000335508	T	0.61627	0.09	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	N	0.02379	-0.575	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19484	-1.0304	10	0.44086	T	0.13	.	16.0963	0.81127	0.0:0.0:0.0:1.0	.	876	O75533	SF3B1_HUMAN	L	876	ENSP00000335321:M876L	ENSP00000335321:M876L	M	-	1	0	SF3B1	197973776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.936000	0.87665	2.261000	0.74972	0.533000	0.62120	ATG		0.368	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			17	32	0	0	0	1	0	17	32				
NKIRAS1	28512	broad.mit.edu	37	3	23942418	23942418	+	Missense_Mutation	SNP	T	T	C			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr3:23942418T>C	ENST00000443659.2	-	3	994	c.217A>G	c.(217-219)Aag>Gag	p.K73E	NKIRAS1_ENST00000412028.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.K73E|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.K73E			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	73	Interactions with NFKBIA and NFKBIB.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						AAATAATGCTTTGGCAGCTCC	0.408																																						ENST00000443659.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(217-219)Aag>Gag		NFKB inhibitor interacting Ras-like 1							158.0	153.0	155.0					3																	23942418		2203	4300	6503	SO:0001583	missense	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23942418T>C	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.217A>G	3.37:g.23942418T>C	ENSP00000393785:p.Lys73Glu					NKIRAS1_ENST00000425478.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.K73E	p.K73E			Q9NYS0	KBRS1_HUMAN			3	994	-			73			Interactions with NFKBIA and NFKBIB.		Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	c.217A>G	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.728543	0.69074	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.56	5.56	0.83823	Small GTP-binding protein domain (1);	0.095673	0.64402	D	0.000001	T	0.69242	0.3089	L	0.37630	1.12	0.54753	D	0.99998	P;B	0.39903	0.694;0.368	B;B	0.37387	0.248;0.201	T	0.68481	-0.5397	10	0.28530	T	0.3	-19.7204	15.3773	0.74621	0.0:0.0:0.0:1.0	.	73;73	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	E	73	ENSP00000373411:K73E;ENSP00000393785:K73E;ENSP00000392307:K73E;ENSP00000400385:K73E;ENSP00000406543:K73E;ENSP00000396063:K73E;ENSP00000415225:K73E;ENSP00000394214:K73E	ENSP00000373411:K73E	K	-	1	0	NKIRAS1	23917422	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.946000	0.63576	2.116000	0.64780	0.402000	0.26972	AAG		0.408	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		6	76	0	0	0	1	0	6	76				
TESPA1	9840	broad.mit.edu	37	12	55356225	55356225	+	Missense_Mutation	SNP	T	T	C			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr12:55356225T>C	ENST00000449076.1	-	9	1589	c.1457A>G	c.(1456-1458)gAc>gGc	p.D486G	TESPA1_ENST00000524622.1_Missense_Mutation_p.D348G|TESPA1_ENST00000531122.1_Missense_Mutation_p.D348G|TESPA1_ENST00000532804.1_Missense_Mutation_p.D348G|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000316577.8_Missense_Mutation_p.D486G	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	486					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CTCCTCCAAGTCAAAAGTGTC	0.512																																						ENST00000524622.1																			0											c.(1042-1044)gAc>gGc		thymocyte expressed, positive selection associated 1							159.0	160.0	160.0					12																	55356225		1931	4145	6076	SO:0001583	missense	9840							g.chr12:55356225T>C	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1457A>G	12.37:g.55356225T>C	ENSP00000400892:p.Asp486Gly					TESPA1_ENST00000449076.1_Missense_Mutation_p.D486G|TESPA1_ENST00000316577.8_Missense_Mutation_p.D486G|TESPA1_ENST00000531122.1_Missense_Mutation_p.D348G|TESPA1_ENST00000532804.1_Missense_Mutation_p.D348G	p.D348G	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			7	1704	-			486					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.1043A>G	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	T	6.533	0.466637	0.12402	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.59083	0.29;0.29;0.36;0.36;0.29	4.7	4.7	0.59300	.	0.141093	0.32785	N	0.005643	T	0.48840	0.1522	L	0.27053	0.805	0.09310	N	1	P	0.36048	0.534	B	0.42343	0.384	T	0.50355	-0.8838	10	0.59425	D	0.04	-10.3778	10.8387	0.46702	0.0:0.0:0.0:1.0	.	486	A2RU30	K0748_HUMAN	G	348;86;348;486;486;348	ENSP00000435622:D348G;ENSP00000432030:D348G;ENSP00000400892:D486G;ENSP00000312679:D486G;ENSP00000433098:D348G	ENSP00000312679:D486G	D	-	2	0	KIAA0748	53642492	0.021000	0.18746	0.024000	0.17045	0.037000	0.13140	0.902000	0.28459	2.330000	0.79161	0.533000	0.62120	GAC		0.512	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		7	97	0	0	0	1	0	7	97				
OSGIN1	29948	broad.mit.edu	37	16	83998897	83998897	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr16:83998897G>A	ENST00000343939.2	+	7	1351	c.968G>A	c.(967-969)cGc>cAc	p.R323H	OSGIN1_ENST00000393306.1_Missense_Mutation_p.R240H|OSGIN1_ENST00000361711.3_Missense_Mutation_p.R240H			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	323					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CTGTGGGCCCGCAACGTGGTC	0.697																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(967-969)cGc>cAc		oxidative stress induced growth inhibitor 1							30.0	35.0	33.0					16																	83998897		2197	4299	6496	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83998897G>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.968G>A	16.37:g.83998897G>A	ENSP00000343376:p.Arg323His					OSGIN1_ENST00000393306.1_Missense_Mutation_p.R240H|OSGIN1_ENST00000361711.3_Missense_Mutation_p.R240H	p.R323H			Q9UJX0	OSGI1_HUMAN			7	1351	+			323					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.968G>A		.	.	.	.	.	.	.	.	.	.	G	12.63	1.995384	0.35226	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.46819	0.86;0.86;0.86	4.8	-1.12	0.09808	.	0.490267	0.22366	N	0.061010	T	0.30479	0.0766	L	0.31476	0.935	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.04635	-1.0937	10	0.40728	T	0.16	-6.2507	9.3331	0.38034	0.6673:0.0:0.3327:0.0	.	323	Q9UJX0	OSGI1_HUMAN	H	323;240;240	ENSP00000343376:R323H;ENSP00000355374:R240H;ENSP00000376983:R240H	ENSP00000343376:R323H	R	+	2	0	OSGIN1	82556398	0.102000	0.21896	0.990000	0.47175	0.967000	0.64934	0.858000	0.27845	-0.213000	0.10094	0.467000	0.42956	CGC		0.697	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		4	55	0	0	0	1	0	4	55				
SDHAP1	255812	broad.mit.edu	37	3	195701278	195701278	+	RNA	SNP	C	C	T	rs200131790	byFrequency	TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr3:195701278C>T	ENST00000427841.1	-	0	1546					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CAGGCCTGCACGACTCTGCGA	0.537																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701278C>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701278C>T								NR_003264.2						0	1546	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.537	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	19	0	0	0	1	0	3	19				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		4	58	0	0	0	1	0	4	58				
GFAP	2670	broad.mit.edu	37	17	42987560	42987560	+	Intron	SNP	C	C	G			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr17:42987560C>G	ENST00000253408.5	-	7	1237				GFAP_ENST00000435360.2_Missense_Mutation_p.V414L|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein						astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ATTGGTATAACTCGTATTGTG	0.493																																						ENST00000435360.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(1240-1242)Gtt>Ctt		glial fibrillary acidic protein							325.0	276.0	291.0					17																	42987560		1568	3582	5150	SO:0001627	intron_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42987560C>G	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1171+422G>C	17.37:g.42987560C>G						GFAP_ENST00000588735.1_Intron|GFAP_ENST00000253408.5_Intron	p.V414L	NM_001131019.2|NM_001242376.1	NP_001124491.1|NP_001229305.1	P14136	GFAP_HUMAN			8	1247	-		Prostate(33;0.0959)	412			Tail.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.1240G>C	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973818	0.53720	.	.	ENSG00000131095	ENST00000435360	D	0.83992	-1.79	4.78	3.81	0.43845	.	.	.	.	.	T	0.69278	0.3093	N	0.14661	0.345	0.80722	D	1	B	0.21452	0.056	B	0.22152	0.038	T	0.68176	-0.5478	9	0.87932	D	0	.	9.0041	0.36100	0.0:0.902:0.0:0.098	.	414	E9PAX3	.	L	414	ENSP00000403962:V414L	ENSP00000403962:V414L	V	-	1	0	GFAP	40343086	0.999000	0.42202	0.999000	0.59377	0.990000	0.78478	1.683000	0.37638	1.612000	0.50221	0.650000	0.86243	GTT		0.493	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		36	55	0	0	0	1	0	36	55				
YLPM1	56252	broad.mit.edu	37	14	75265980	75265980	+	Missense_Mutation	SNP	A	A	G			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr14:75265980A>G	ENST00000325680.7	+	5	4104	c.3980A>G	c.(3979-3981)gAt>gGt	p.D1327G	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1132G|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1132					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CGTGAACGGGATATTCCATCT	0.448																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3979-3981)gAt>gGt		YLP motif containing 1							141.0	141.0	141.0					14																	75265980		1919	4126	6045	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265980A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3980A>G	14.37:g.75265980A>G	ENSP00000324463:p.Asp1327Gly					YLPM1_ENST00000238571.3_Missense_Mutation_p.D1132G|YLPM1_ENST00000552421.1_Intron	p.D1327G	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4104	+			1132					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.3980A>G	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281637	0.59758	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.97	5.97	0.96955	.	0.080378	0.53938	D	0.000058	T	0.63943	0.2554	L	0.44542	1.39	0.47123	D	0.99932	D	0.59767	0.986	P	0.53912	0.737	T	0.66540	-0.5898	9	0.66056	D	0.02	-10.6323	16.5103	0.84282	1.0:0.0:0.0:0.0	.	1327	P49750-4	.	G	1327;1132;1040	.	ENSP00000238571:D1132G	D	+	2	0	YLPM1	74335733	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.774000	0.75012	2.303000	0.77524	0.439000	0.28862	GAT		0.448	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		5	70	0	0	0	1	0	5	70				
ATG12	9140	broad.mit.edu	37	5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr5:115177236G>A	ENST00000509910.1	-	1	319	c.14C>T	c.(13-15)cCg>cTg	p.P5L	AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|ATG12_ENST00000274459.4_Missense_Mutation_p.P52L|ATG12_ENST00000509598.1_5'Flank			O94817	ATG12_HUMAN	autophagy related 12	5					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)	p.P52L(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CACAGACTGCGGCTCCTCCGC	0.607																																						ENST00000509910.1																			1	Substitution - Missense(1)	p.P52L(1)	prostate(1)	endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(13-15)cCg>cTg		autophagy related 12							76.0	85.0	82.0					5																	115177236		2202	4300	6502	SO:0001583	missense	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177236G>A	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.14C>T	5.37:g.115177236G>A	ENSP00000425107:p.Pro5Leu					ATG12_ENST00000274459.4_Missense_Mutation_p.P52L|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|AP3S1_ENST00000316788.7_5'UTR	p.P5L			O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	1	319	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	5					Q6PJV2	Missense_Mutation	SNP	ENST00000509910.1	37	c.14C>T	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109715	0.56398	.	.	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.87	2.96	0.34315	.	0.956568	0.08681	N	0.909454	T	0.33644	0.0870	L	0.51422	1.61	0.23661	N	0.99718	D;P	0.58268	0.982;0.553	B;B	0.41723	0.365;0.054	T	0.22138	-1.0225	9	0.87932	D	0	-2.7118	8.8274	0.35063	0.0:0.1546:0.6621:0.1832	.	5;52	O94817;C1IDX9	ATG12_HUMAN;.	L	52;5;5	.	ENSP00000274459:P52L	P	-	2	0	ATG12	115205135	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.361000	0.20267	1.006000	0.39211	-0.274000	0.10170	CCG		0.607	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707		9	101	0	0	0	1	0	9	101				
HUWE1	10075	broad.mit.edu	37	X	53654447	53654447	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chrX:53654447C>T	ENST00000342160.3	-	16	1860	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.R468Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.R468Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	468					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACATTCTTTTCGGCACAAATC	0.308																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(1402-1404)cGa>cAa		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							171.0	144.0	153.0					X																	53654447		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53654447C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1403G>A	X.37:g.53654447C>T	ENSP00000340648:p.Arg468Gln					HUWE1_ENST00000262854.6_Missense_Mutation_p.R468Q|HUWE1_ENST00000218328.8_Missense_Mutation_p.R468Q	p.R468Q			Q7Z6Z7	HUWE1_HUMAN			16	1860	-			468					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.1403G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	c	28.9	4.956474	0.92726	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000396323	T;T;T	0.73363	0.97;0.97;-0.74	4.89	4.89	0.63831	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.389433	0.22273	N	0.062240	D	0.85270	0.5658	M	0.74881	2.28	0.49687	D	0.999812	D	0.76494	0.999	D	0.68192	0.956	D	0.87234	0.2262	10	0.72032	D	0.01	.	15.999	0.80275	0.0:1.0:0.0:0.0	.	468	Q7Z6Z7	HUWE1_HUMAN	Q	468;468;468;94	ENSP00000340648:R468Q;ENSP00000262854:R468Q;ENSP00000218328:R468Q	ENSP00000218328:R468Q	R	-	2	0	HUWE1	53671172	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.096000	0.76960	2.025000	0.59659	0.534000	0.68092	CGA		0.308	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		27	47	0	0	0	1	0	27	47				
TRIB2	28951	broad.mit.edu	37	2	12863616	12863616	+	Silent	SNP	T	T	C	rs114874345	byFrequency	TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:12863616T>C	ENST00000405331.3	+	2	571	c.501T>C	c.(499-501)caT>caC	p.H167H	TRIB2_ENST00000155926.4_Silent_p.H167H|TRIB2_ENST00000381465.2_Silent_p.H31H					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCACTGCCATGACGGGGGGC	0.577													T|||	19	0.00379393	0.0121	0.0	5008	,	,		17814	0.0		0.001	False		,,,				2504	0.002					ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(499-501)caT>caC		tribbles pseudokinase 2		T		40,4366	40.8+/-73.8	1,38,2164	53.0	57.0	56.0		501	-0.6	1.0	2	dbSNP_132	56	0,8600		0,0,4300	no	coding-synonymous	TRIB2	NM_021643.3		1,38,6464	CC,CT,TT		0.0,0.9079,0.3076		167/344	12863616	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12863616T>C	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.501T>C	2.37:g.12863616T>C						TRIB2_ENST00000405331.3_Silent_p.H167H|TRIB2_ENST00000381465.2_Silent_p.H31H	p.H167H	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			2	1920	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		167			Protein kinase.			Silent	SNP	ENST00000405331.3	37	c.501T>C																																																																																					0.577	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		4	58	0	0	0	1	0	4	58				
NDUFS1	4719	broad.mit.edu	37	2	207011657	207011657	+	Missense_Mutation	SNP	T	T	C			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:207011657T>C	ENST00000233190.6	-	8	973	c.707A>G	c.(706-708)tAt>tGt	p.Y236C	NDUFS1_ENST00000440274.1_Missense_Mutation_p.Y200C|NDUFS1_ENST00000455934.2_Missense_Mutation_p.Y250C|NDUFS1_ENST00000432169.1_Missense_Mutation_p.Y125C|NDUFS1_ENST00000423725.1_Missense_Mutation_p.Y179C|NDUFS1_ENST00000449699.1_Missense_Mutation_p.Y236C|NDUFS1_ENST00000457011.1_Missense_Mutation_p.Y120C	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	236					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTAAAGGCATAGGGCTTAGA	0.363																																						ENST00000233190.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(706-708)tAt>tGt		NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						122.0	107.0	112.0					2																	207011657		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207011657T>C		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.707A>G	2.37:g.207011657T>C	ENSP00000233190:p.Tyr236Cys					NDUFS1_ENST00000440274.1_Missense_Mutation_p.Y200C|NDUFS1_ENST00000432169.1_Missense_Mutation_p.Y125C|NDUFS1_ENST00000423725.1_Missense_Mutation_p.Y179C|NDUFS1_ENST00000455934.2_Missense_Mutation_p.Y250C|NDUFS1_ENST00000449699.1_Missense_Mutation_p.Y236C|NDUFS1_ENST00000457011.1_Missense_Mutation_p.Y120C	p.Y236C	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN			8	973	-			236					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.707A>G	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469212	0.84533	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.95281	0.8469	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.986;0.968;0.968	D	0.96939	0.9686	10	0.87932	D	0	-23.7092	16.1063	0.81225	0.0:0.0:0.0:1.0	.	125;200;250;236	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	C	236;179;120;200;250;236;125	ENSP00000233190:Y236C;ENSP00000397760:Y179C;ENSP00000400976:Y120C;ENSP00000409766:Y200C;ENSP00000392709:Y250C;ENSP00000399912:Y236C;ENSP00000409689:Y125C	ENSP00000233190:Y236C	Y	-	2	0	NDUFS1	206719902	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.040000	0.89188	2.197000	0.70478	0.533000	0.62120	TAT		0.363	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		8	63	0	0	0	1	0	8	63				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	81	0	0	0	1	0	6	81				
ANKRD53	79998	broad.mit.edu	37	2	71206350	71206350	+	Silent	SNP	G	G	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:71206350G>A	ENST00000360589.3	+	2	328	c.294G>A	c.(292-294)caG>caA	p.Q98Q	ANKRD53_ENST00000272421.6_Silent_p.Q98Q|ANKRD53_ENST00000441349.1_Silent_p.Q64Q|ANKRD53_ENST00000457410.1_Silent_p.Q64Q|AC007040.11_ENST00000606025.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	98										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						AGTCCGACCAGACGGCAATCG	0.682																																						ENST00000272421.6																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(292-294)caG>caA		ankyrin repeat domain 53							59.0	60.0	59.0					2																	71206350		2202	4298	6500	SO:0001819	synonymous_variant	79998							g.chr2:71206350G>A	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.294G>A	2.37:g.71206350G>A						ANKRD53_ENST00000441349.1_Silent_p.Q64Q|ANKRD53_ENST00000457410.1_Silent_p.Q64Q|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000360589.3_Silent_p.Q98Q	p.Q98Q	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN			2	560	+			98					Q8IYP8	Silent	SNP	ENST00000360589.3	37	c.294G>A	CCDS46321.1																																																																																				0.682	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		9	66	0	0	0	1	0	9	66				
POTEC	388468	broad.mit.edu	37	18	14542693	14542693	+	Silent	SNP	C	C	T	rs371316587		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr18:14542693C>T	ENST00000358970.5	-	1	452	c.453G>A	c.(451-453)aaG>aaA	p.K151K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	151								p.K151K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTCTGGGGACCTTACCCCACC	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.K151K(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(451-453)aaG>aaA		POTE ankyrin domain family, member C							172.0	158.0	163.0					18																	14542693		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542693C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.453G>A	18.37:g.14542693C>T						POTEC_ENST00000389891.4_5'UTR	p.K151K	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	452	-			151						Silent	SNP	ENST00000358970.5	37	c.453G>A	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	111	0	0	0	1	0	5	111				
BMS1P20	96610	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1				BMS1 pseudogene 20																		CCCCCACCCCGTCATGTACAG	0.413																																						ENST00000426066.1																			0																																																			0							g.chr22:22661187G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661187G>A								NR_027293.1						0	279	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	23	0	0	0	1	0	5	23				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	103	0	0	0	1	0	11	103				
ZNF512B	57473	broad.mit.edu	37	20	62631011	62631011	+	Intron	SNP	C	C	T			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr20:62631011C>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.H308Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAACCCTCATCACCCGCCAGC	0.567																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(922-924)Cac>Tac		pre-mRNA processing factor 6							95.0	81.0	86.0					20																	62631011		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62631011C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31703G>A	20.37:g.62631011C>T						ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	p.H308Y			O94906	PRP6_HUMAN			8	1033	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		308					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.922C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834857	0.91036	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.33654	1.4;1.4	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);	0.043393	0.85682	D	0.000000	T	0.65460	0.2693	M	0.93638	3.44	0.80722	D	1	P;P	0.47545	0.526;0.897	B;P	0.53185	0.248;0.72	T	0.73672	-0.3909	10	0.52906	T	0.07	.	19.5492	0.95311	0.0:1.0:0.0:0.0	.	308;308	O94906-2;O94906	.;PRP6_HUMAN	Y	308	ENSP00000266079:H308Y;ENSP00000446216:H308Y	ENSP00000266079:H308Y	H	+	1	0	PRPF6	62101455	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	7.258000	0.78371	2.621000	0.88768	0.650000	0.86243	CAC		0.567	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		7	75	0	0	0	1	0	7	75				
BAGE2	85319	broad.mit.edu	37	21	11039406	11039406	+	RNA	SNP	T	T	C	rs8134740	byFrequency	TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr21:11039406T>C	ENST00000470054.1	-	0	797							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATTAGAAATCTGTTTTTCC	0.299																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039406T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039406T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	797	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.299	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		15	136	0	0	0	1	0	15	136				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	29	0	0	0	1	0	20	29				
OR2AT4	341152	broad.mit.edu	37	11	74800178	74800178	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr11:74800178C>T	ENST00000305159.3	-	1	621	c.581G>A	c.(580-582)tGc>tAc	p.C194Y		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGTGTCAGAGCAGGAGGCCTG	0.567																																						ENST00000305159.3																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(580-582)tGc>tAc		olfactory receptor, family 2, subfamily AT, member 4							60.0	53.0	56.0					11																	74800178		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800178C>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.581G>A	11.37:g.74800178C>T	ENSP00000304846:p.Cys194Tyr						p.C194Y	NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN			1	621	-			194					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.581G>A	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629862	0.67015	.	.	ENSG00000171561	ENST00000305159	T	0.46451	0.87	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34828	U	0.003651	T	0.71719	0.3373	M	0.91090	3.175	0.48830	D	0.999712	D	0.76494	0.999	D	0.75020	0.985	T	0.78760	-0.2078	10	0.87932	D	0	.	16.7481	0.85478	0.0:1.0:0.0:0.0	.	194	A6NND4	O2AT4_HUMAN	Y	194	ENSP00000304846:C194Y	ENSP00000304846:C194Y	C	-	2	0	OR2AT4	74477826	0.995000	0.38212	1.000000	0.80357	0.965000	0.64279	3.301000	0.51842	2.617000	0.88574	0.650000	0.86243	TGC		0.567	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		8	52	0	0	0	1	0	8	52				
NT5C1B	93034	broad.mit.edu	37	2	18765449	18765449	+	Missense_Mutation	SNP	T	T	C	rs370362544		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:18765449T>C	ENST00000359846.2	-	6	1053	c.976A>G	c.(976-978)Atc>Gtc	p.I326V	NT5C1B_ENST00000600945.1_Missense_Mutation_p.I326V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.I326V|NT5C1B_ENST00000304081.4_Missense_Mutation_p.I266V|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	326					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCTCGTAGATTTTCCTGCCG	0.552																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(796-798)Atc>Gtc		5'-nucleotidase, cytosolic IB		T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	167.0	160.0	163.0		796,976,802,982,1027,925,976	0.5	1.0	2		163	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	NT5C1B,NT5C1B-RDH14	NM_033253.3,NM_001199104.1,NM_001199103.1,NM_001199088.1,NM_001199087.1,NM_001199086.1,NM_001002006.2	29,29,29,29,29,29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	266/551,326/603,268/651,328/613,343/628,309/594,326/611	18765449	1,13005	2203	4300	6503	SO:0001583	missense	93034							g.chr2:18765449T>C	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.976A>G	2.37:g.18765449T>C	ENSP00000352904:p.Ile326Val					NT5C1B_ENST00000359846.2_Missense_Mutation_p.I326V|NT5C1B_ENST00000600945.1_Missense_Mutation_p.I326V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.I326V	p.I266V	NM_033253.3	NP_150278.2					5	896	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.796A>G	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.531356	0.27387	2.27E-4	0.0	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.90732	-2.72	5.58	0.472	0.16758	.	0.241175	0.47852	N	0.000203	T	0.82153	0.4975	L	0.33137	0.985	0.44055	D	0.996791	B;B;B;B;B;B;B;B;B	0.13594	0.001;0.001;0.003;0.001;0.001;0.002;0.002;0.001;0.008	B;B;B;B;B;B;B;B;B	0.18263	0.007;0.007;0.008;0.008;0.004;0.015;0.019;0.007;0.021	T	0.67173	-0.5737	10	0.17369	T	0.5	-18.2419	9.7588	0.40519	0.0:0.2599:0.0:0.7401	.	309;343;266;309;268;118;266;326;326	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	V	326;268;266;326	ENSP00000412639:I268V	ENSP00000305979:I266V	I	-	1	0	NT5C1B-RDH14;NT5C1B	18628930	1.000000	0.71417	0.987000	0.45799	0.951000	0.60555	1.930000	0.40124	-0.078000	0.12730	-1.167000	0.01749	ATC		0.552	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			5	111	0	0	0	1	0	5	111				
SDC2	6383	broad.mit.edu	37	8	97621772	97621772	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr8:97621772C>T	ENST00000302190.4	+	5	1523	c.602C>T	c.(601-603)gCg>gTg	p.A201V	SDC2_ENST00000519914.1_Missense_Mutation_p.A172V|SDC2_ENST00000518385.1_Missense_Mutation_p.A165V|SDC2_ENST00000522911.1_Missense_Mutation_p.A172V	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	201					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GAGTTTTATGCGTAAAACTCC	0.363																																						ENST00000302190.4																			0				breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16						c.(601-603)gCg>gTg		syndecan 2	Sargramostim(DB00020)						83.0	75.0	77.0					8																	97621772		2203	4300	6503	SO:0001583	missense	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97621772C>T	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.602C>T	8.37:g.97621772C>T	ENSP00000307046:p.Ala201Val					SDC2_ENST00000519914.1_Missense_Mutation_p.A172V|SDC2_ENST00000522911.1_Missense_Mutation_p.A172V|SDC2_ENST00000518385.1_Missense_Mutation_p.A165V	p.A201V	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN			5	1523	+	Breast(36;3.41e-05)		201					B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	c.602C>T	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126365	0.77549	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914	T;T;T;T	0.68181	-0.31;0.02;-0.1;-0.1	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83496	0.5267	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83857	0.0266	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	201	P34741	SDC2_HUMAN	V	201;165;201;191;172;172	ENSP00000307046:A201V;ENSP00000429045:A165V;ENSP00000427784:A172V;ENSP00000428256:A172V	ENSP00000307046:A201V	A	+	2	0	SDC2	97690948	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.794000	0.85869	2.882000	0.98803	0.655000	0.94253	GCG		0.363	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		3	33	0	0	0	1	0	3	33				
BCRP7	100133163	broad.mit.edu	37	22	18844969	18844969	+	3'UTR	SNP	C	C	G			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr22:18844969C>G	ENST00000412938.1	+	0	3219																											CTGGAAAGAGCACGGAAATGC	0.577																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844969C>G																												ENST00000412938.1:c.*3216C>G	22.37:g.18844969C>G														0	3219	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.577	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	61	0	0	0	1	0	5	61				
RP11-608O21.1	0	broad.mit.edu	37	4	19815894	19815895	+	lincRNA	INS	-	-	A	rs397992461|rs71179253|rs371862528		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr4:19815894_19815895insA	ENST00000511431.1	+	0	288																											CTCTGGGCTGTaaaaaaaaaaa	0.416																																						ENST00000511431.1																			0																																																			0							g.chr4:19815894_19815895insA																													4.37:g.19815905_19815905dupA														0	288	+									RNA	INS	ENST00000511431.1	37																																																																																						0.416	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			2	4						2	4	---	---	---	---
TRBV7-7	28591	broad.mit.edu	37	7	142120168	142120169	+	RNA	INS	-	-	CA	rs534874890|rs57417024|rs575166369|rs566281538|rs555281003|rs558731694	byFrequency	TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr7:142120168_142120169insCA	ENST00000390377.1	-	0	49									T cell receptor beta variable 7-7																		TGTAGTCATCTcacacacacac	0.426														1808	0.361022	0.1664	0.3862	5008	,	,		25962	0.501		0.4135	False		,,,				2504	0.408					ENST00000390377.1																			0																																																			0							g.chr7:142120168_142120169insCA	L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142120177_142120178dupCA														0	49	-									RNA	INS	ENST00000390377.1	37																																																																																						0.426	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352480.1	NG_001333		13	49						13	49	---	---	---	---
TRBV6-5	28602	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-	rs369065333|rs146925843|rs377067235		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115									T cell receptor beta variable 6-5																		CCTGCAGAGAAGGAGAACAAAGC	0.557																																						ENST00000390368.2																			0																																																			0							g.chr7:142180819_142180821delAGG	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180819_142180821delAGG														0	115	-									RNA	DEL	ENST00000390368.2	37																																																																																						0.557	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		7	85						7	85	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	4						3	4	---	---	---	---
SNORD3C	780853	broad.mit.edu	37	17	19091400	19091401	+	lincRNA	INS	-	-	C	rs557669864|rs372916954|rs369058676	byFrequency	TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr17:19091400_19091401insC	ENST00000362428.1	-	0	432				SNORD3A_ENST00000365494.1_lincRNA					small nucleolar RNA, C/D box 3C																		tagagcaccgaaaaccacgagg	0.49														27	0.00539137	0.0182	0.0029	5008	,	,		58857	0.0		0.001	False		,,,				2504	0.0					ENST00000365494.1																			0																																																			0							g.chr17:19091400_19091401insC			17p11.2	2013-09-05			ENSG00000199298	ENSG00000264940			33191	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006881		Approved	U3-3					17.37:g.19091400_19091401insC														0	72_73	+									RNA	INS	ENST00000362428.1	37																																																																																						0.490	SNORD3C-201	KNOWN	basic	snoRNA	lincRNA		NR_006881		7	308						7	308	---	---	---	---
