#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
FCRL3	115352	broad.mit.edu	37	1	157665168	157665168	+	Missense_Mutation	SNP	G	G	T			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr1:157665168G>T	ENST00000368184.3	-	8	1653	c.1362C>A	c.(1360-1362)gaC>gaA	p.D454E	FCRL3_ENST00000368186.5_Missense_Mutation_p.D454E|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	454	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCAGGCCATTGTCTGCATCAC	0.532																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1360-1362)gaC>gaA		Fc receptor-like 3							159.0	156.0	157.0					1																	157665168		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665168G>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1362C>A	1.37:g.157665168G>T	ENSP00000357167:p.Asp454Glu					FCRL3_ENST00000368186.5_Missense_Mutation_p.D454E|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	p.D454E	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			8	1653	-	all_hematologic(112;0.0378)		454			Ig-like C2-type 5.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1362C>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	16.32	3.090523	0.55968	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03181	4.02;4.02	5.17	0.743	0.18347	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.423027	0.19998	N	0.101410	T	0.03220	0.0094	L	0.52011	1.625	0.21445	N	0.999688	D;B;D	0.58970	0.972;0.217;0.984	D;P;P	0.64144	0.922;0.573;0.891	T	0.37619	-0.9698	10	0.46703	T	0.11	.	3.6141	0.08071	0.0896:0.3109:0.4397:0.1597	.	454;359;454	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	E	454	ENSP00000357169:D454E;ENSP00000357167:D454E	ENSP00000292392:D454E	D	-	3	2	FCRL3	155931792	0.513000	0.26194	0.901000	0.35422	0.435000	0.31806	0.026000	0.13599	0.151000	0.19162	-0.244000	0.11960	GAC		0.532	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		5	84	1	0	0.184627	1	0.184627	5	84				
FCRL6	343413	broad.mit.edu	37	1	159778167	159778167	+	Silent	SNP	T	T	C			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr1:159778167T>C	ENST00000368106.3	+	3	253	c.252T>C	c.(250-252)tcT>tcC	p.S84S	FCRL6_ENST00000392235.3_Silent_p.S84S|FCRL6_ENST00000339348.5_Silent_p.S84S|FCRL6_ENST00000321935.6_Silent_p.S91S	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	84	Ig-like C2-type 1.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ACAGCTGCTCTGGGCAGGTGA	0.498																																						ENST00000321935.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(271-273)tcT>tcC		Fc receptor-like 6							53.0	46.0	48.0					1																	159778167		2203	4300	6503	SO:0001819	synonymous_variant	343413					integral to membrane		g.chr1:159778167T>C	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.252T>C	1.37:g.159778167T>C						FCRL6_ENST00000392235.3_Silent_p.S84S|FCRL6_ENST00000368106.3_Silent_p.S84S|FCRL6_ENST00000339348.5_Silent_p.S84S	p.S91S			Q6DN72	FCRL6_HUMAN			4	359	+	all_hematologic(112;0.0597)		84			Ig-like C2-type 1.		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Silent	SNP	ENST00000368106.3	37	c.273T>C	CCDS30912.1																																																																																				0.498	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		9	34	0	0	0	1	0	9	34				
FANCM	57697	broad.mit.edu	37	14	45650703	45650703	+	Silent	SNP	A	A	G			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr14:45650703A>G	ENST00000267430.5	+	15	4378	c.4293A>G	c.(4291-4293)aaA>aaG	p.K1431K	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Silent_p.K1405K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1431					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAGAGCAAAAGGAAATGTTT	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(4291-4293)aaA>aaG	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							67.0	75.0	72.0					14																	45650703		2203	4297	6500	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45650703A>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4293A>G	14.37:g.45650703A>G						FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Silent_p.K1405K	p.K1431K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			15	4378	+			1431					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.4293A>G	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	6.098	0.386372	0.11524	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.25	2.89	0.33648	.	.	.	.	.	T	0.54481	0.1861	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48681	-0.9014	4	.	.	.	.	6.1133	0.20112	0.7219:0.0:0.2781:0.0	.	.	.	.	G	364	.	.	R	+	1	2	FANCM	44720453	0.988000	0.35896	0.941000	0.38009	0.644000	0.38419	2.478000	0.45189	0.941000	0.37499	0.383000	0.25322	AGG		0.308	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		13	40	0	0	0	1	0	13	40				
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C	rs370500896	byFrequency	TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542													G|||	18	0.00359425	0.0	0.0	5008	,	,		22692	0.0		0.001	False		,,,				2504	0.0174					ENST00000418868.1																			0																																																			220729							g.chr3:197348634G>C																													3.37:g.197348634G>C								NR_003266.2						0	625	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.542	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	45	0	0	0	1	0	4	45				
FEZ1	9638	broad.mit.edu	37	11	125359671	125359671	+	Start_Codon_SNP	SNP	C	C	T			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr11:125359671C>T	ENST00000278919.3	-	2	237	c.3G>A	c.(1-3)atG>atA	p.M1I	FEZ1_ENST00000524435.1_Start_Codon_SNP_p.M1I|FEZ1_ENST00000366139.3_Start_Codon_SNP_p.M1I	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	1					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GTGGGGCCTCCATTCTTGCTC	0.478																																					Melanoma(180;509 2033 10762 15939 24711)	ENST00000278919.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(1-3)atG>atA		fasciculation and elongation protein zeta 1 (zygin I)							56.0	58.0	57.0					11																	125359671		2201	4299	6500	SO:0001582	initiator_codon_variant	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359671C>T	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.3G>A	11.37:g.125359671C>T	ENSP00000278919:p.Met1Ile					FEZ1_ENST00000366139.3_Start_Codon_SNP_p.M1I|FEZ1_ENST00000524435.1_Start_Codon_SNP_p.M1I	p.M1I	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	237	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	1					O00679|O00728|Q6IBI7	Translation_Start_Site	SNP	ENST00000278919.3	37	c.3G>A	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374884	0.95923	.	.	ENSG00000149557	ENST00000278919;ENST00000529053;ENST00000366139;ENST00000524435;ENST00000527534	T	0.35236	1.32	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	.	.	.	0.80722	D	1	D;P	0.63880	0.993;0.924	D;P	0.70227	0.968;0.878	T	0.66118	-0.6003	9	0.72032	D	0.01	.	19.2535	0.93935	0.0:1.0:0.0:0.0	.	1;1	B4DKG5;Q99689	.;FEZ1_HUMAN	I	1	ENSP00000278919:M1I	ENSP00000278919:M1I	M	-	3	0	FEZ1	124864881	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.339000	0.79282	2.646000	0.89796	0.655000	0.94253	ATG		0.478	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103	Missense_Mutation	10	21	0	0	0	1	0	10	21				
ENOX2	10495	broad.mit.edu	37	X	129759353	129759353	+	Missense_Mutation	SNP	C	C	G			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chrX:129759353C>G	ENST00000370927.1	-	13	1789	c.1768G>C	c.(1768-1770)Gga>Cga	p.G590R	ENOX2_ENST00000370935.1_Missense_Mutation_p.G561R|ENOX2_ENST00000394363.1_Missense_Mutation_p.G561R|ENOX2_ENST00000338144.3_Missense_Mutation_p.G590R			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	590					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCTCCAACTCCAGTCATTTCC	0.483																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1768-1770)Gga>Cga		ecto-NOX disulfide-thiol exchanger 2							116.0	89.0	98.0					X																	129759353		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129759353C>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1768G>C	X.37:g.129759353C>G	ENSP00000359965:p.Gly590Arg					ENOX2_ENST00000394363.1_Missense_Mutation_p.G561R|ENOX2_ENST00000370935.1_Missense_Mutation_p.G561R|ENOX2_ENST00000370927.1_Missense_Mutation_p.G590R	p.G590R	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			16	2185	-			590					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1768G>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122623	0.77436	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.72118	2.19	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79145	-0.1924	9	0.87932	D	0	-16.7752	12.5197	0.56052	0.0:1.0:0.0:0.0	.	590;618	Q16206;A4QPE1	ENOX2_HUMAN;.	R	561;590;561;618;590	.	ENSP00000337146:G590R	G	-	1	0	ENOX2	129587034	1.000000	0.71417	0.974000	0.42286	0.997000	0.91878	6.779000	0.75057	2.447000	0.82792	0.538000	0.68166	GGA		0.483	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		4	65	0	0	0	1	0	4	65				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	56	0	0	0	1	0	4	56				
HERC2P2	400322	broad.mit.edu	37	15	23299928	23299928	+	RNA	SNP	C	C	T	rs200546965		TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr15:23299928C>T	ENST00000560464.1	-	0	4359									hect domain and RLD 2 pseudogene 2																		GCAAGCCGGACGCATTCCCGG	0.572																																						ENST00000560464.1																			0																																																			400322							g.chr15:23299928C>T	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299928C>T														0	4359	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.572	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	7	0	0	0	1	0	3	7				
OR6C6	283365	broad.mit.edu	37	12	55688981	55688981	+	Silent	SNP	G	G	C			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr12:55688981G>C	ENST00000358433.2	-	1	35	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCAATCCTAGGAGAATGAACT	0.333																																						ENST00000358433.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(34-36)ctC>ctG		olfactory receptor, family 6, subfamily C, member 6							102.0	101.0	101.0					12																	55688981		2203	4300	6503	SO:0001819	synonymous_variant	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688981G>C		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.36C>G	12.37:g.55688981G>C							p.L12L	NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN			1	35	-			12						Silent	SNP	ENST00000358433.2	37	c.36C>G	CCDS31817.1																																																																																				0.333	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			6	29	0	0	0	1	0	6	29				
TIPARP	25976	broad.mit.edu	37	3	156421292	156421292	+	Missense_Mutation	SNP	G	G	A			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr3:156421292G>A	ENST00000461166.1	+	5	1915	c.1327G>A	c.(1327-1329)Gtc>Atc	p.V443I	TIPARP_ENST00000486483.1_Missense_Mutation_p.V443I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V443I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V443I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	443					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCCAGATGGGGTCACTTCAGC	0.448																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1327-1329)Gtc>Atc		TCDD-inducible poly(ADP-ribose) polymerase							93.0	93.0	93.0					3																	156421292		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156421292G>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1327G>A	3.37:g.156421292G>A	ENSP00000420612:p.Val443Ile					TIPARP_ENST00000486483.1_Missense_Mutation_p.V443I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V443I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V443I	p.V443I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		5	1915	+			443					D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1327G>A	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.302809|2.302809	0.40795|0.40795	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T|T;T;T;T;T;T	0.13901|0.23950	2.55|2.9;2.9;2.9;1.88;2.9;2.9	5.35|5.35	4.48|4.48	0.54585|0.54585	.|.	.|0.183659	.|0.48767	.|D	.|0.000174	T|T	0.15219|0.15219	0.0367|0.0367	N|N	0.16478|0.16478	0.41|0.41	0.35916|0.35916	D|D	0.831477|0.831477	.|B	.|0.18863	.|0.031	.|B	.|0.10450	.|0.005	T|T	0.13019|0.13019	-1.0525|-1.0525	7|10	0.12430|0.31617	T|T	0.62|0.26	.|.	9.968|9.968	0.41736|0.41736	0.1565:0.0:0.8435:0.0|0.1565:0.0:0.8435:0.0	.|.	.|443	.|Q7Z3E1	.|PARPT_HUMAN	D|I	145|443	ENSP00000420141:G145D|ENSP00000418757:V443I;ENSP00000295924:V443I;ENSP00000420612:V443I;ENSP00000419982:V443I;ENSP00000418829:V443I;ENSP00000438345:V443I	ENSP00000420141:G145D|ENSP00000295924:V443I	G|V	+|+	2|1	0|0	TIPARP|TIPARP	157903986|157903986	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.796000|2.796000	0.47869|0.47869	1.259000|1.259000	0.44117|0.44117	0.585000|0.585000	0.79938|0.79938	GGT|GTC		0.448	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		3	39	0	0	0	1	0	3	39				
SESN1	27244	broad.mit.edu	37	6	109315808	109315808	+	Missense_Mutation	SNP	C	C	G	rs200255805		TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr6:109315808C>G	ENST00000356644.7	-	6	894	c.800G>C	c.(799-801)aGt>aCt	p.S267T	SESN1_ENST00000302071.2_Missense_Mutation_p.S201T|SESN1_ENST00000436639.2_Missense_Mutation_p.S326T	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	267					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GAAAGAATCACTTACCTGAAG	0.343																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(976-978)aGt>aCt		sestrin 1							72.0	59.0	64.0					6																	109315808		2203	4300	6503	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109315808C>G	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.800G>C	6.37:g.109315808C>G	ENSP00000349061:p.Ser267Thr					SESN1_ENST00000356644.7_Missense_Mutation_p.S267T|SESN1_ENST00000302071.2_Missense_Mutation_p.S201T	p.S326T	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	6	1722	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	267					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.977G>C	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	8.811	0.935203	0.18206	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.24723	1.84;1.84;1.84	5.7	3.76	0.43208	.	0.062440	0.64402	D	0.000003	T	0.04634	0.0126	N	0.03948	-0.315	0.38353	D	0.944395	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22765	-1.0207	10	0.13470	T	0.59	-42.5471	14.7894	0.69827	0.0:0.6543:0.3457:0.0	.	326;267	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	T	326;201;267	ENSP00000393762:S326T;ENSP00000306734:S201T;ENSP00000349061:S267T	ENSP00000306734:S201T	S	-	2	0	SESN1	109422501	0.995000	0.38212	1.000000	0.80357	0.856000	0.48823	1.583000	0.36579	2.675000	0.91044	0.591000	0.81541	AGT		0.343	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		4	22	0	0	0	1	0	4	22				
TYW1	55253	broad.mit.edu	37	7	66479502	66479502	+	Missense_Mutation	SNP	C	C	T			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr7:66479502C>T	ENST00000359626.5	+	5	688	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	175	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATGAGATATGCGGTATTTGGC	0.423																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(523-525)gCg>gTg		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							216.0	194.0	201.0					7																	66479502		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479502C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.524C>T	7.37:g.66479502C>T	ENSP00000352645:p.Ala175Val						p.A175V	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	688	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	175			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.524C>T	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287305	0.80803	.	.	ENSG00000198874	ENST00000359626	T	0.78595	-1.19	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	U	0.000000	D	0.87585	0.6214	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.89163	0.3531	10	0.72032	D	0.01	.	15.7606	0.78076	0.0:1.0:0.0:0.0	.	175	Q9NV66	TYW1_HUMAN	V	175	ENSP00000352645:A175V	ENSP00000352645:A175V	A	+	2	0	TYW1	66116937	1.000000	0.71417	0.384000	0.26145	0.631000	0.37964	7.034000	0.76511	2.394000	0.81467	0.456000	0.33151	GCG		0.423	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		4	144	0	0	0	1	0	4	144				
KANSL1	284058	broad.mit.edu	37	17	44248901	44248901	+	Silent	SNP	C	C	T			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr17:44248901C>T	ENST00000262419.6	-	2	1079	c.609G>A	c.(607-609)ggG>ggA	p.G203G	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000572904.1_Silent_p.G203G|KANSL1_ENST00000432791.1_Silent_p.G203G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.G203G|KANSL1_ENST00000575318.1_Silent_p.G203G	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	203					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGGTCATACCCCCCTTCAAGT	0.453																																						ENST00000262419.6																			0											c.(607-609)ggG>ggA		KAT8 regulatory NSL complex subunit 1							121.0	158.0	145.0					17																	44248901		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44248901C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.609G>A	17.37:g.44248901C>T						KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.G203G|KANSL1_ENST00000574590.1_Silent_p.G203G|KANSL1_ENST00000572904.1_Silent_p.G203G|KANSL1_ENST00000432791.1_Silent_p.G203G	p.G203G	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			2	1079	-			203					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.609G>A	CCDS11503.1																																																																																				0.453	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		22	80	0	0	0	1	0	22	80				
ANKFN1	162282	broad.mit.edu	37	17	54559863	54559863	+	Silent	SNP	C	C	T			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr17:54559863C>T	ENST00000318698.2	+	17	2282	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	ANKFN1_ENST00000566473.2_Silent_p.L749L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	749										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TTCTTAACCTCCCTCTTCAGA	0.438																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(2245-2247)ctC>ctT		ankyrin-repeat and fibronectin type III domain containing 1							173.0	164.0	167.0					17																	54559863		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54559863C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2247C>T	17.37:g.54559863C>T						ANKFN1_ENST00000318698.2_Silent_p.L749L	p.L749L			Q8N957	ANKF1_HUMAN			17	2247	+			749						Silent	SNP	ENST00000318698.2	37	c.2247C>T	CCDS32686.1																																																																																				0.438	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		21	60	0	0	0	1	0	21	60				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	9	0	0	0	1	0	4	9				
TTLL8	164714	broad.mit.edu	37	22	50483807	50483807	+	Missense_Mutation	SNP	G	G	A	rs201774397	byFrequency	TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr22:50483807G>A	ENST00000266182.6	-	6	519	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	TTLL8_ENST00000440475.1_Missense_Mutation_p.R174C|TTLL8_ENST00000477219.1_5'Flank			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	210					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCCATGGTGCGCCGGAAGTCT	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		13850	0.0		0.002	False		,,,				2504	0.0					ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(520-522)Cgc>Tgc		tubulin tyrosine ligase-like family, member 8			CYS/ARG	1,4349		0,1,2174	49.0	55.0	53.0		610	2.9	1.0	22		53	14,8524		0,14,4255	no	missense	TTLL8	XM_003403494.1	180	0,15,6429	AA,AG,GG		0.164,0.023,0.1164	probably-damaging	204/841	50483807	15,12873	2175	4269	6444	SO:0001583	missense	164714							g.chr22:50483807G>A			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.520C>T	22.37:g.50483807G>A	ENSP00000266182:p.Arg174Cys					TTLL8_ENST00000440475.1_Missense_Mutation_p.R174C	p.R174C						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	6	519	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.520C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	14.48	2.546934	0.45383	2.3E-4	0.00164	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.04809	3.55;3.67;3.67	5.14	2.91	0.33838	.	0.390084	0.20935	N	0.083040	T	0.08891	0.0220	M	0.66939	2.045	0.34867	D	0.743175	D	0.76494	0.999	P	0.51806	0.68	T	0.24548	-1.0157	10	0.39692	T	0.17	.	3.51	0.07704	0.0935:0.1661:0.5692:0.1713	.	174	B5MDV0	.	C	174;174;210	ENSP00000266182:R174C;ENSP00000387509:R174C;ENSP00000392252:R210C	ENSP00000266182:R174C	R	-	1	0	TTLL8	48825934	0.997000	0.39634	0.998000	0.56505	0.312000	0.27988	1.428000	0.34892	1.163000	0.42636	0.394000	0.25966	CGC		0.657	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		3	25	0	0	0	1	0	3	25				
KMT2D	8085	broad.mit.edu	37	12	49418672	49418672	+	Missense_Mutation	SNP	A	A	C			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr12:49418672A>C	ENST00000301067.7	-	49	15841	c.15842T>G	c.(15841-15843)cTg>cGg	p.L5281R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5281	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GAAGAGTCGCAGCATGTCAGC	0.557																																						ENST00000301067.7																			0											c.(15841-15843)cTg>cGg		lysine (K)-specific methyltransferase 2D							20.0	22.0	21.0					12																	49418672		2064	4191	6255	SO:0001583	missense	8085							g.chr12:49418672A>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15842T>G	12.37:g.49418672A>C	ENSP00000301067:p.Leu5281Arg						p.L5281R	NM_003482.3	NP_003473.3					49	15841	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15842T>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.833490	0.50951	.	.	ENSG00000167548	ENST00000301067	T	0.46819	0.86	5.38	5.38	0.77491	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.000000	0.28482	N	0.015197	T	0.68604	0.3019	M	0.75085	2.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72721	-0.4208	10	0.87932	D	0	.	14.6879	0.69062	1.0:0.0:0.0:0.0	.	5281	O14686	MLL2_HUMAN	R	5281	ENSP00000301067:L5281R	ENSP00000301067:L5281R	L	-	2	0	MLL2	47704939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.178000	0.69098	0.533000	0.62120	CTG		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			3	12	0	0	0	1	0	3	12				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	30	0	0	0	1	0	3	30				
CDC42BPG	55561	broad.mit.edu	37	11	64594255	64594255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr11:64594255delC	ENST00000342711.5	-	35	4400	c.4401delG	c.(4399-4401)gagfs	p.E1467fs		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTCGGCCCTTCTCTTCGGGAG	0.672																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4399-4401)gafs		CDC42 binding protein kinase gamma (DMPK-like)							9.0	12.0	11.0					11																	64594255		2168	4250	6418	SO:0001589	frameshift_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594255delC	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4401delG	11.37:g.64594255delC	ENSP00000345133:p.Glu1467fs						p.E1467fs	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			35	4400	-			1467						Frame_Shift_Del	DEL	ENST00000342711.5	37	c.4401delG	CCDS31601.1																																																																																				0.672	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		2	4						2	4	---	---	---	---
