#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ALLC	55821	genome.wustl.edu	37	2	3721691	3721691	+	Silent	SNP	T	T	C			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr2:3721691T>C	ENST00000252505.3	+	3	222	c.60T>C	c.(58-60)ttT>ttC	p.F20F		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	39					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.F20F(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ATGACTTTTTTGCTCCTGCAG	0.328										HNSCC(21;0.051)																												dbGAP											1	Substitution - coding silent(1)	breast(1)											29.0	30.0	29.0					2																	3721691		1795	4054	5849	-	-	-	SO:0001819	synonymous_variant	0			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.60T>C	2.37:g.3721691T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Silent	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.F20	ENST00000252505.3	37	c.60	CCDS46223.1	2																																																																																			ALLC	-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	ENSG00000151360		0.328	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	139	0.00	0	T			3721691	3721691	+1	no_errors	ENST00000252505	ensembl	human	known	69_37n	silent	96	14.29	16	SNP	1.000	C
CCDC184	387856	genome.wustl.edu	37	12	48578409	48578410	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr12:48578409_48578410insG	ENST00000316554.3	+	1	1044_1045	c.504_505insG	c.(505-507)gggfs	p.G169fs		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		169						cytoplasm (GO:0005737)		p.D171fs*>25(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTGGTCTCCTTGGGGGGGACGG	0.658																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0																														ENST00000316554.3:c.511dupG	12.37:g.48578416_48578416dupG	ENSP00000320849:p.Gly169fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MK5|Q96N39	Frame_Shift_Ins	INS	NULL	p.D170fs	ENST00000316554.3	37	c.504_505	CCDS31785.1	12																																																																																			C12orf68	-	NULL	ENSG00000177875		0.658	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1	18	0.00	0	-			48578409	48578410	+1	no_errors	ENST00000316554	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.336:0.295	G
CDR2	1039	genome.wustl.edu	37	16	22359093	22359093	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr16:22359093delA	ENST00000268383.2	-	5	865	c.558delT	c.(556-558)ggtfs	p.G186fs		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	186						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		GGCTTGGCTGACCTTGCAAGG	0.448																																						dbGAP											0													106.0	94.0	98.0					16																	22359093		2197	4300	6497	-	-	-	SO:0001589	frameshift_variant	0			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.558delT	16.37:g.22359093delA	ENSP00000268383:p.Gly186fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A8|Q13977	Frame_Shift_Del	DEL	NULL	p.Q187fs	ENST00000268383.2	37	c.558	CCDS32404.1	16																																																																																			CDR2	-	NULL	ENSG00000140743		0.448	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2	HGNC	protein_coding	OTTHUMT00000430081.1	131	0.00	0	A			22359093	22359093	-1	no_errors	ENST00000268383	ensembl	human	known	69_37n	frame_shift_del	107	39.15	74	DEL	0.031	-
FAM53C	51307	genome.wustl.edu	37	5	137682473	137682474	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr5:137682473_137682474insC	ENST00000239906.5	+	5	1432_1433	c.1004_1005insC	c.(1003-1008)agccccfs	p.SP335fs	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_3'UTR|FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.SP335fs	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	335										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATGGCCTGTAGCCCCCCACCCC	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.1010dupC	5.37:g.137682479_137682479dupC	ENSP00000239906:p.Ser335fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDJ5|D3DQB9	Frame_Shift_Ins	INS	NULL	p.P338fs	ENST00000239906.5	37	c.1004_1005	CCDS4204.1	5																																																																																			FAM53C	-	NULL	ENSG00000120709		0.594	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	HGNC	protein_coding	OTTHUMT00000251278.2	55	0.00	0	-	NM_016605		137682473	137682474	+1	no_errors	ENST00000239906	ensembl	human	known	69_37n	frame_shift_ins	25	13.79	4	INS	1.000:1.000	C
FAM73A	374986	genome.wustl.edu	37	1	78269078	78269078	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr1:78269078A>T	ENST00000370791.3	+	4	529	c.497A>T	c.(496-498)cAg>cTg	p.Q166L	FAM73A_ENST00000443751.2_Missense_Mutation_p.Q128L	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	166						integral component of membrane (GO:0016021)		p.Q166L(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GGTTCTGCACAGAGTTTGGCC	0.289																																						dbGAP											1	Substitution - Missense(1)	breast(1)											46.0	45.0	45.0					1																	78269078		2202	4297	6499	-	-	-	SO:0001583	missense	0				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.497A>T	1.37:g.78269078A>T	ENSP00000359827:p.Gln166Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZG0	Missense_Mutation	SNP	pfam_DUF2217	p.Q166L	ENST00000370791.3	37	c.497	CCDS681.1	1	.	.	.	.	.	.	.	.	.	.	A	7.090	0.572039	0.13623	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.23147	1.92;1.92	4.92	3.77	0.43336	.	0.187237	0.48286	D	0.000200	T	0.11879	0.0289	M	0.63428	1.95	0.46222	D	0.998932	B;B;B	0.19331	0.002;0.035;0.035	B;B;B	0.17433	0.004;0.018;0.018	T	0.05178	-1.0901	10	0.19147	T	0.46	-21.1417	12.091	0.53726	0.856:0.144:0.0:0.0	.	128;166;166	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	L	166;128	ENSP00000359827:Q166L;ENSP00000393675:Q128L	ENSP00000359827:Q166L	Q	+	2	0	FAM73A	78041666	1.000000	0.71417	0.999000	0.59377	0.156000	0.22039	6.531000	0.73820	0.826000	0.34661	-0.321000	0.08615	CAG	FAM73A	-	pfam_DUF2217	ENSG00000180488		0.289	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	81	0.00	0	A	NM_198549		78269078	78269078	+1	no_errors	ENST00000370791	ensembl	human	known	69_37n	missense	61	15.28	11	SNP	1.000	T
HLA-DQB1	3119	genome.wustl.edu	37	6	32632633	32632633	+	Silent	SNP	C	C	T	rs281862104		TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr6:32632633C>T	ENST00000399084.1	-	3	499	c.321G>A	c.(319-321)ttG>ttA	p.L107L	HLA-DQB1_ENST00000399082.3_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399079.3_Silent_p.L107L|HLA-DQB1_ENST00000434651.2_Silent_p.L107L|HLA-DQB1_ENST00000374943.4_Silent_p.L107L			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	107	Beta-1.		L -> V (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, allele DQB1*02:05, allele DQB1*03:06, allele DQB1*03:25, allele DQB1*04:01, allele DQB1*04:02, allele DQB1*04:03, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:04, allele DQB1*05:05 and allele DQB1*06:06; dbSNP:rs9274384).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.L107L(1)		breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	ACACCGTGTCCAACTCCGCCC	0.682									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												Esophageal Squamous(151;720 1825 15000 40336 43415)	dbGAP											1	Substitution - coding silent(1)	breast(1)											36.0	38.0	38.0					6																	32632633		1962	4059	6021	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.321G>A	6.37:g.32632633C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.L107	ENST00000399084.1	37	c.321	CCDS43451.1	6																																																																																			HLA-DQB1	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000179344		0.682	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HLA-DQB1	HGNC	protein_coding	OTTHUMT00000276127.1	130	0.00	0	C	NM_002123		32632633	32632633	-1	no_errors	ENST00000374943	ensembl	human	known	69_37n	silent	88	26.67	32	SNP	0.893	T
IGKV3-7	28915	genome.wustl.edu	37	2	89278093	89278095	+	RNA	DEL	GCT	GCT	-			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr2:89278093_89278095delGCT	ENST00000390247.2	-	0	336_338									immunoglobulin kappa variable 3-7 (non-functional)																		ACTGAACCTGGCTGGGATGCTAG	0.532																																						dbGAP											0																																										-	-	-			0			X02725		2p11.2	2012-02-08	2008-09-10		ENSG00000243063	ENSG00000243063		"""Immunoglobulins / IGK locus"""	5821	other	immunoglobulin gene			"""immunoglobulin kappa variable 3-7"""				Standard	NG_000834		Approved				OTTHUMG00000151636		2.37:g.89278093_89278095delGCT		Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A81in_frame_del	ENST00000390247.2	37	c.242_240		2																																																																																			IGKV3-7	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000243063		0.532	IGKV3-7-001	KNOWN	non_canonical_polymorphism|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3-7	HGNC	IG_V_gene	OTTHUMT00000323360.1	273	0.00	0	GCT	NG_000834		89278093	89278095	-1	no_stop_codon	ENST00000390247	ensembl	human	known	69_37n	in_frame_del	226	46.95	200	DEL	0.021:0.031:0.076	-
PRRC2A	7916	genome.wustl.edu	37	6	31600113	31600114	+	Frame_Shift_Del	DEL	GG	GG	-	rs370549598		TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	GG	GG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr6:31600113_31600114delGG	ENST00000376033.2	+	16	3897_3898	c.3663_3664delGG	c.(3661-3666)gtggcgfs	p.A1222fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.A1222fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1222	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGTCCCCTGTGGCGCGCGGAGG	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3663_3664delGG	6.37:g.31600113_31600114delGG	ENSP00000365201:p.Ala1222fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Frame_Shift_Del	DEL	pfam_BAT2_N	p.G1224fs	ENST00000376033.2	37	c.3663_3664	CCDS4708.1	6																																																																																			PRRC2A	-	NULL	ENSG00000204469		0.604	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	19	0.00	0	GG	NM_080686		31600113	31600114	+1	no_errors	ENST00000376007	ensembl	human	known	69_37n	frame_shift_del	3	40.00	2	DEL	0.000:0.000	-
RDH13	112724	genome.wustl.edu	37	19	55556534	55556534	+	Frame_Shift_Del	DEL	C	C	-	rs368796928	byFrequency	TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr19:55556534delC	ENST00000415061.3	-	7	1047	c.904delG	c.(904-906)gatfs	p.D302fs	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000396247.3_Frame_Shift_Del_p.D231fs|RDH13_ENST00000592423.1_5'Flank|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	302					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	ACCTCCTCATCCTCAGCCTCG	0.637																																						dbGAP											0													32.0	37.0	35.0					19																	55556534		1893	4109	6002	-	-	-	SO:0001589	frameshift_variant	0				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.904delG	19.37:g.55556534delC	ENSP00000391121:p.Asp302fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX79|Q96G88	Frame_Shift_Del	DEL	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.D302fs	ENST00000415061.3	37	c.904	CCDS54320.1	19																																																																																			RDH13	-	NULL	ENSG00000160439		0.637	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	HGNC	protein_coding	OTTHUMT00000451470.1	25	0.00	0	C	NM_138412		55556534	55556534	-1	no_errors	ENST00000415061	ensembl	human	known	69_37n	frame_shift_del	14	33.33	7	DEL	1.000	-
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037856	10037856	+	RNA	SNP	G	G	A			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chrY:10037856G>A	ENST00000515896.1	+	0	93									RNA, 5.8S ribosomal pseudogene 6																		ATTGATCATCGACACTTCGAA	0.537																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037856G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.537	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		15	0.00	0	G			10037856	10037856	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	13	27.78	5	SNP	1.000	A
S1PR5	53637	genome.wustl.edu	37	19	10625045	10625046	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr19:10625045_10625046insC	ENST00000439028.3	-	2	767_768	c.642_643insG	c.(640-645)cgcatcfs	p.I215fs	S1PR5_ENST00000333430.4_Frame_Shift_Ins_p.I215fs	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	215					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	TGGCAGTAGATGCGCGCGTAGA	0.703																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.642_643insG	19.37:g.10625045_10625046insC	ENSP00000416915:p.Ile215fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NW11	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn	p.I214fs	ENST00000439028.3	37	c.643_642	CCDS12240.1	19																																																																																			S1PR5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000180739		0.703	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR5	HGNC	protein_coding	OTTHUMT00000452015.1	9	0.00	0	-	NM_030760		10625045	10625046	-1	no_errors	ENST00000333430	ensembl	human	known	69_37n	frame_shift_ins	8	50.00	8	INS	0.991:0.887	C
SEMA6D	80031	genome.wustl.edu	37	15	48056083	48056083	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr15:48056083G>A	ENST00000316364.5	+	10	1223	c.784G>A	c.(784-786)Gac>Aac	p.D262N	SEMA6D_ENST00000389425.3_Missense_Mutation_p.D262N|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D262N|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D262N|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D262N|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D262N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D262N|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D262N|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D262N|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D262N|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D262N|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D262N	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	262	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.D262N(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGTAAAAACGACATGGGTGG	0.483																																						dbGAP											2	Substitution - Missense(2)	breast(2)											149.0	143.0	145.0					15																	48056083		2198	4297	6495	-	-	-	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.784G>A	15.37:g.48056083G>A	ENSP00000324857:p.Asp262Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.D262N	ENST00000316364.5	37	c.784	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.889586	0.97068	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.83986	0.5373	H	0.94734	3.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.87509	0.2438	10	0.87932	D	0	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	262;262;262;262;262	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	N	262	ENSP00000442040:D262N;ENSP00000446152:D262N;ENSP00000324857:D262N;ENSP00000374084:D262N;ENSP00000374083:D262N;ENSP00000346786:D262N;ENSP00000350770:D262N;ENSP00000374079:D262N;ENSP00000348276:D262N;ENSP00000374076:D262N	ENSP00000324857:D262N	D	+	1	0	SEMA6D	45843375	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	GAC	SEMA6D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000137872		0.483	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	390	0.26	1	G	NM_024966		48056083	48056083	+1	no_errors	ENST00000316364	ensembl	human	known	69_37n	missense	257	10.76	31	SNP	1.000	A
SSPO	23145	genome.wustl.edu	37	7	149474082	149474083	+	RNA	INS	-	-	G	rs529229055		TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr7:149474082_149474083insG	ENST00000378016.2	+	0	292_293							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGCCCAGGCTGGGGGGGCGCC	0.624																																						dbGAP											0																																										-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149474089_149474089dupG		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76B61	RNA	INS	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.624	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		15	0.00	0	-			149474082	149474083	+1	no_errors	ENST00000262089	ensembl	human	known	69_37n	rna	14	26.32	5	INS	1.000:1.000	G
TLN2	83660	genome.wustl.edu	37	15	62999439	62999439	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr15:62999439T>C	ENST00000561311.1	+	19	2389	c.2159T>C	c.(2158-2160)gTg>gCg	p.V720A	TLN2_ENST00000306829.6_Missense_Mutation_p.V720A			Q9Y4G6	TLN2_HUMAN	talin 2	720					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V720A(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCCCAGCTTGTGGCATGTGCC	0.562																																						dbGAP											1	Substitution - Missense(1)	breast(1)											113.0	93.0	100.0					15																	62999439		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2159T>C	15.37:g.62999439T>C	ENSP00000453508:p.Val720Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.V720A	ENST00000561311.1	37	c.2159	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	t	27.5	4.833544	0.91036	.	.	ENSG00000171914	ENST00000306829	T	0.73789	-0.78	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	M	0.86420	2.815	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.89592	0.3828	10	0.62326	D	0.03	-25.4546	15.8164	0.78604	0.0:0.0:0.0:1.0	.	720	Q9Y4G6	TLN2_HUMAN	A	720	ENSP00000303476:V720A	ENSP00000303476:V720A	V	+	2	0	TLN2	60786731	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.963000	0.87922	2.195000	0.70347	0.533000	0.62120	GTG	TLN2	-	pfam_ILWEQ	ENSG00000171914		0.562	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	83	0.00	0	T			62999439	62999439	+1	no_errors	ENST00000306829	ensembl	human	known	69_37n	missense	73	11.90	10	SNP	1.000	C
TMC2	117532	genome.wustl.edu	37	20	2582823	2582823	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr20:2582823G>A	ENST00000358864.1	+	11	1304	c.1289G>A	c.(1288-1290)cGt>cAt	p.R430H	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	430					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.R430H(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGATTTCTTCGTGTCCTGGCC	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											203.0	178.0	186.0					20																	2582823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1289G>A	20.37:g.2582823G>A	ENSP00000351732:p.Arg430His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.R430H	ENST00000358864.1	37	c.1289	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011829	0.93346	.	.	ENSG00000149488	ENST00000358864	D	0.91686	-2.89	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.96703	0.8924	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.953;0.939;0.997;0.991	D	0.97057	0.9768	10	0.87932	D	0	-9.3547	17.4555	0.87606	0.0:0.0:1.0:0.0	.	261;262;430;430	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	H	430	ENSP00000351732:R430H	ENSP00000351732:R430H	R	+	2	0	TMC2	2530823	1.000000	0.71417	0.941000	0.38009	0.912000	0.54170	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CGT	TMC2	-	NULL	ENSG00000149488		0.383	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	846	0.00	0	G			2582823	2582823	+1	no_errors	ENST00000358864	ensembl	human	known	69_37n	missense	684	12.31	96	SNP	1.000	A
TMEM132B	114795	genome.wustl.edu	37	12	125834676	125834676	+	Nonsense_Mutation	SNP	C	C	A	rs143562095	byFrequency	TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr12:125834676C>A	ENST00000299308.3	+	2	739	c.731C>A	c.(730-732)tCg>tAg	p.S244*		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	244						integral component of membrane (GO:0016021)		p.S244*(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AATATCCACTCGGGCCTGGAG	0.597																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											67.0	70.0	69.0					12																	125834676		1928	4128	6056	-	-	-	SO:0001587	stop_gained	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.731C>A	12.37:g.125834676C>A	ENSP00000299308:p.Ser244*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Nonsense_Mutation	SNP	NULL	p.S244*	ENST00000299308.3	37	c.731	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	16.48	3.133803	0.56828	.	.	ENSG00000139364	ENST00000299308	.	.	.	5.34	1.47	0.22746	.	.	.	.	.	.	.	.	.	.	.	0.20764	N	0.999855	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	10.0932	0.42460	0.0:0.7333:0.0:0.2667	.	.	.	.	X	244	.	ENSP00000299308:S244X	S	+	2	0	TMEM132B	124400629	0.053000	0.20554	0.101000	0.21167	0.321000	0.28281	2.474000	0.45154	0.632000	0.30432	0.655000	0.94253	TCG	TMEM132B	-	NULL	ENSG00000139364		0.597	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	199	0.00	0	C	NM_052907		125834676	125834676	+1	no_errors	ENST00000299308	ensembl	human	known	69_37n	nonsense	126	11.89	17	SNP	0.085	A
TMPRSS7	344805	genome.wustl.edu	37	3	111766802	111766802	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr3:111766802G>A	ENST00000452346.2	+	7	950	c.947G>A	c.(946-948)aGc>aAc	p.S316N	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.S190N			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	316	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S45N(1)|p.S190N(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATCCGGAGCAGCATCTTGTAC	0.443																																						dbGAP											2	Substitution - Missense(2)	breast(2)											82.0	80.0	81.0					3																	111766802		2052	4207	6259	-	-	-	SO:0001583	missense	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.947G>A	3.37:g.111766802G>A	ENSP00000398236:p.Ser316Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S190N	ENST00000452346.2	37	c.569		3	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401702	0.25291	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127;ENST00000460599	T;T;T	0.43294	2.11;2.11;0.95	5.33	3.52	0.40303	CUB (5);	0.382752	0.25701	N	0.028864	T	0.19967	0.0480	N	0.12182	0.205	0.09310	N	0.999996	B;B	0.12013	0.005;0.001	B;B	0.04013	0.001;0.001	T	0.06643	-1.0815	10	0.33940	T	0.23	.	3.4884	0.07629	0.1592:0.5505:0.1958:0.0946	.	316;190	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	N	316;304;290;190;179	ENSP00000398236:S316N;ENSP00000411645:S190N;ENSP00000447563:S179N	ENSP00000411645:S190N	S	+	2	0	TMPRSS7	113249492	0.876000	0.30132	0.848000	0.33437	0.600000	0.36913	1.514000	0.35834	1.373000	0.46208	0.563000	0.77884	AGC	TMPRSS7	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000176040		0.443	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	145	0.00	0	G	XM_293599		111766802	111766802	+1	no_errors	ENST00000419127	ensembl	human	known	69_37n	missense	85	11.34	11	SNP	0.472	A
XIAP	331	genome.wustl.edu	37	X	123019870	123019870	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chrX:123019870T>A	ENST00000371199.3	+	2	657	c.358T>A	c.(358-360)Tat>Aat	p.Y120N	XIAP_ENST00000355640.3_Missense_Mutation_p.Y120N|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.Y120N	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	120					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y120N(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AGTTGAAAACTATCTGGGAAG	0.408									X-linked Lymphoproliferative syndrome																													dbGAP											1	Substitution - Missense(1)	breast(1)											88.0	87.0	87.0					X																	123019870		2201	4299	6500	-	-	-	SO:0001583	missense	0	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.358T>A	X.37:g.123019870T>A	ENSP00000360242:p.Tyr120Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTF2|Q9NQ14	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.Y120N	ENST00000371199.3	37	c.358	CCDS14606.1	X	.	.	.	.	.	.	.	.	.	.	T	2.761	-0.257789	0.05791	.	.	ENSG00000101966	ENST00000434753;ENST00000430625;ENST00000371199;ENST00000355640	T;T;T;T	0.57595	1.69;0.39;1.69;1.69	5.74	4.58	0.56647	.	0.574703	0.17622	N	0.167684	T	0.34571	0.0902	N	0.22421	0.69	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.19712	-1.0297	9	.	.	.	-18.2711	7.353	0.26703	0.0:0.0804:0.1941:0.7255	.	120	P98170	XIAP_HUMAN	N	120	ENSP00000395230:Y120N;ENSP00000400637:Y120N;ENSP00000360242:Y120N;ENSP00000347858:Y120N	.	Y	+	1	0	XIAP	122847551	0.978000	0.34361	0.564000	0.28396	0.653000	0.38743	2.737000	0.47393	0.810000	0.34279	-0.469000	0.05056	TAT	XIAP	-	NULL	ENSG00000101966		0.408	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	XIAP	HGNC	protein_coding	OTTHUMT00000058165.5	66	0.00	0	T	NM_001167		123019870	123019870	+1	no_errors	ENST00000355640	ensembl	human	known	69_37n	missense	70	15.66	13	SNP	0.195	A
ZBTB7C	201501	genome.wustl.edu	37	18	45566518	45566519	+	Frame_Shift_Ins	INS	-	-	C	rs113275715		TCGA-A2-A0CZ-01A-11W-A050-09	TCGA-A2-A0CZ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	95d5c606-367a-46b5-b663-dcea3f42e2a2	fae549ea-9db2-46c2-9427-852db8158476	g.chr18:45566518_45566519insC	ENST00000588982.1	-	3	1461_1462	c.960_961insG	c.(958-963)gggcctfs	p.P321fs	ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.P321fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	321	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.961dupG	18.37:g.45566525_45566525dupC	ENSP00000468782:p.Pro321fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O73453	Frame_Shift_Ins	INS	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P320fs	ENST00000588982.1	37	c.961_960	CCDS32830.1	18																																																																																			ZBTB7C	-	NULL	ENSG00000184828		0.624	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB7C	HGNC	protein_coding	OTTHUMT00000450731.1	63	0.00	0	-	NM_001039360		45566518	45566519	-1	no_errors	ENST00000332053	ensembl	human	known	69_37n	frame_shift_ins	42	10.64	5	INS	1.000:0.989	C
