#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
ACSM5	54988	genome.wustl.edu	37	16	20442387	20442387	+	Missense_Mutation	SNP	G	G	A	rs111968067	byFrequency	TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr16:20442387G>A	ENST00000331849.4	+	9	1345	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	400					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCCACCCTACGATGTGCAGGT	0.567																																						dbGAP											0													156.0	145.0	149.0					16																	20442387		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1198G>A	16.37:g.20442387G>A	ENSP00000327916:p.Asp400Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D400N	ENST00000331849.4	37	c.1198	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765047	0.31228	.	.	ENSG00000183549	ENST00000331849	T	0.42131	0.98	4.37	3.4	0.38934	AMP-dependent synthetase/ligase (1);	0.000000	0.53938	D	0.000042	T	0.42966	0.1226	M	0.69185	2.1	0.40179	D	0.977267	B	0.32604	0.377	B	0.35312	0.2	T	0.47114	-0.9142	10	0.59425	D	0.04	-17.0037	11.7058	0.51597	0.0905:0.0:0.9095:0.0	.	400	Q6NUN0	ACSM5_HUMAN	N	400	ENSP00000327916:D400N	ENSP00000327916:D400N	D	+	1	0	ACSM5	20349888	1.000000	0.71417	0.968000	0.41197	0.097000	0.18754	3.299000	0.51826	0.927000	0.37143	0.650000	0.86243	GAT	ACSM5	-	pfam_AMP-dep_Synth/Lig	ENSG00000183549		0.567	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	42	0.00	0	G	NM_017888		20442387	20442387	+1	no_errors	ENST00000331849	ensembl	human	known	69_37n	missense	59	15.71	11	SNP	1.000	A
ATRX	546	genome.wustl.edu	37	X	76890049	76890049	+	Intron	SNP	C	C	G			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chrX:76890049C>G	ENST00000373344.5	-	17	5024				ATRX_ENST00000480283.1_Intron|ATRX_ENST00000395603.3_Intron	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						aatgaatCCACAAAAACAGGA	0.398			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											91.0	88.0	89.0					X																	76890049		2203	4295	6498	-	-	-	SO:0001627	intron_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4809+35G>C	X.37:g.76890049C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	SNP	-	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			ATRX	-	-	ENSG00000085224		0.398	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	34	0.00	0	C	NM_000489		76890049	76890049	-1	no_errors	ENST00000460639	ensembl	human	known	69_37n	rna	30	14.29	5	SNP	0.000	G
BTG4	54766	genome.wustl.edu	37	11	111368756	111368756	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr11:111368756G>C	ENST00000356018.2	-	3	477	c.278C>G	c.(277-279)aCc>aGc	p.T93S	BTG4_ENST00000525791.1_Missense_Mutation_p.T93S	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	93					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TACCCATATGGTCATCTCCTT	0.393																																						dbGAP											0													188.0	157.0	167.0					11																	111368756		2201	4297	6498	-	-	-	SO:0001583	missense	0			AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.278C>G	11.37:g.111368756G>C	ENSP00000348300:p.Thr93Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEH7	Missense_Mutation	SNP	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.T93S	ENST00000356018.2	37	c.278	CCDS8346.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693043	0.88735	.	.	ENSG00000137707	ENST00000356018;ENST00000525791;ENST00000456861	.	.	.	5.2	5.2	0.72013	Anti-proliferative protein (4);	0.000000	0.85682	D	0.000000	T	0.76154	0.3948	M	0.63843	1.955	0.80722	D	1	D;D	0.65815	0.995;0.993	D;P	0.67382	0.951;0.863	T	0.74469	-0.3655	9	0.36615	T	0.2	.	18.3562	0.90358	0.0:0.0:1.0:0.0	.	93;93	Q8NEH7;Q9NY30	.;BTG4_HUMAN	S	93	.	ENSP00000348300:T93S	T	-	2	0	BTG4	110873966	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.421000	0.90259	2.441000	0.82636	0.655000	0.94253	ACC	BTG4	-	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	ENSG00000137707		0.393	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTG4	HGNC	protein_coding	OTTHUMT00000391177.1	80	0.00	0	G			111368756	111368756	-1	no_errors	ENST00000356018	ensembl	human	known	69_37n	missense	40	25.93	14	SNP	1.000	C
MYRFL	196446	genome.wustl.edu	37	12	70352300	70352300	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr12:70352300C>T	ENST00000552032.2	+	25	2936	c.2722C>T	c.(2722-2724)Cgc>Tgc	p.R908C	MYRFL_ENST00000547771.2_Missense_Mutation_p.R896C|MYRFL_ENST00000299350.4_Missense_Mutation_p.R273C|MYRFL_ENST00000535034.1_Missense_Mutation_p.R248C|RP11-611E13.2_ENST00000549419.1_RNA			Q96LU7	MRFL_HUMAN	myelin regulatory factor-like	908						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTCTATCGACGCTGTGCCTA	0.348																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK057785		12q15	2012-12-19	2012-12-19	2012-12-19	ENSG00000166268	ENSG00000166268			26316	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 15"", ""chromosome 12 open reading frame 28"""	C12orf15, C12orf28			Standard	XM_006709961		Approved	FLJ25056, bcm1377		Q96LU7	OTTHUMG00000169438	ENST00000552032.2:c.2722C>T	12.37:g.70352300C>T	ENSP00000448753:p.Arg908Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R273C	ENST00000552032.2	37	c.817		12	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315206	0.60524	.	.	ENSG00000166268	ENST00000552032;ENST00000299350;ENST00000535034	T;T	0.46063	0.88;0.88	5.96	5.96	0.96718	.	0.706998	0.14182	N	0.335925	T	0.41994	0.1183	N	0.22421	0.69	0.38578	D	0.950125	D;D	0.69078	0.997;0.997	P;P	0.50708	0.648;0.648	T	0.40136	-0.9579	10	0.66056	D	0.02	.	14.7009	0.69154	0.2581:0.7419:0.0:0.0	.	248;612	F5GYH9;F8VY44	.;.	C	612;273;248	ENSP00000299350:R273C;ENSP00000440626:R248C	ENSP00000299350:R273C	R	+	1	0	C12orf28	68638567	0.787000	0.28750	0.968000	0.41197	0.767000	0.43475	1.376000	0.34306	2.832000	0.97577	0.655000	0.94253	CGC	C12orf28	-	NULL	ENSG00000166268		0.348	MYRFL-004	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	C12orf28	HGNC	protein_coding	OTTHUMT00000404016.2	78	0.00	0	C	NM_182530		70352300	70352300	+1	no_errors	ENST00000299350	ensembl	human	known	69_37n	missense	58	22.67	17	SNP	0.827	T
C9orf72	203228	genome.wustl.edu	37	9	27548294	27548294	+	Silent	SNP	A	A	G			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr9:27548294A>G	ENST00000380003.3	-	11	1449	c.1386T>C	c.(1384-1386)ttT>ttC	p.F462F	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	462					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TTCCAAAGATAAAAGAGTGTA	0.378																																						dbGAP											0													107.0	106.0	106.0					9																	27548294		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1386T>C	9.37:g.27548294A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	NULL	p.F462	ENST00000380003.3	37	c.1386	CCDS6522.1	9																																																																																			C9orf72	-	NULL	ENSG00000147894		0.378	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf72	HGNC	protein_coding	OTTHUMT00000051969.1	21	0.00	0	A	NM_018325		27548294	27548294	-1	no_errors	ENST00000380003	ensembl	human	known	69_37n	silent	15	25.00	5	SNP	1.000	G
CPN1	1369	genome.wustl.edu	37	10	101835810	101835810	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr10:101835810C>T	ENST00000370418.3	-	2	529	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	93	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CATCAGCTCGCGGCCCAACGC	0.557																																						dbGAP											0													123.0	103.0	109.0					10																	101835810		2203	4300	6503	-	-	-	SO:0001583	missense	0			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.278G>A	10.37:g.101835810C>T	ENSP00000359446:p.Arg93His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AP59	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.R93H	ENST00000370418.3	37	c.278	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201848	0.79015	.	.	ENSG00000120054	ENST00000370418	T	0.12147	2.71	5.59	5.59	0.84812	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	M	0.93638	3.44	0.80722	D	1	D	0.59357	0.985	P	0.62014	0.897	T	0.61811	-0.6986	10	0.87932	D	0	-35.5451	19.5966	0.95541	0.0:1.0:0.0:0.0	.	93	P15169	CBPN_HUMAN	H	93	ENSP00000359446:R93H	ENSP00000359446:R93H	R	-	2	0	CPN1	101825800	1.000000	0.71417	0.979000	0.43373	0.050000	0.14768	7.815000	0.86186	2.647000	0.89833	0.655000	0.94253	CGC	CPN1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000120054		0.557	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	HGNC	protein_coding	OTTHUMT00000049828.1	26	0.00	0	C	NM_001308		101835810	101835810	-1	no_errors	ENST00000370418	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	1.000	T
CYTH4	27128	genome.wustl.edu	37	22	37698059	37698059	+	Intron	SNP	A	A	G			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr22:37698059A>G	ENST00000248901.6	+	7	734				CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4						positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						caatccatacatcaaccgttt	0.532																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.547+999A>G	22.37:g.37698059A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3F9|Q9UGT6	RNA	SNP	-	NULL	ENST00000248901.6	37	NULL	CCDS13946.1	22																																																																																			CYTH4	-	-	ENSG00000100055		0.532	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH4	HGNC	protein_coding	OTTHUMT00000318917.1	38	0.00	0	A			37698059	37698059	+1	no_errors	ENST00000439667	ensembl	human	known	69_37n	rna	33	26.67	12	SNP	0.002	G
ERCC6L	54821	genome.wustl.edu	37	X	71428269	71428269	+	Missense_Mutation	SNP	T	T	G			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chrX:71428269T>G	ENST00000334463.3	-	2	483	c.348A>C	c.(346-348)aaA>aaC	p.K116N	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_5'UTR	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	116	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATATACCACCTTTTCTTCCAT	0.433																																						dbGAP											0													187.0	177.0	180.0					X																	71428269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.348A>C	X.37:g.71428269T>G	ENSP00000334675:p.Lys116Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K116N	ENST00000334463.3	37	c.348	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414230	0.42817	.	.	ENSG00000186871	ENST00000334463	D	0.92752	-3.1	5.15	3.99	0.46301	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.89812	0.6823	L	0.36672	1.1	0.48395	D	0.999644	P	0.52692	0.955	P	0.53360	0.724	D	0.85445	0.1157	9	0.27082	T	0.32	-14.0567	8.125	0.30992	0.0:0.0973:0.0:0.9026	.	116	Q2NKX8	ERC6L_HUMAN	N	116	ENSP00000334675:K116N	ENSP00000334675:K116N	K	-	3	2	ERCC6L	71344994	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	1.038000	0.30254	0.632000	0.30432	0.481000	0.45027	AAA	ERCC6L	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000186871		0.433	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	37	0.00	0	T	NM_017669		71428269	71428269	-1	no_errors	ENST00000334463	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	G
FAM134C	162427	genome.wustl.edu	37	17	40761332	40761332	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr17:40761332G>A	ENST00000309428.5	-	1	70	c.11C>T	c.(10-12)gCc>gTc	p.A4V	FAM134C_ENST00000585894.1_Intron|TUBG1_ENST00000251413.3_5'Flank|FAM134C_ENST00000543197.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	4						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		AACCCCTTCGGCCTCAGCCAT	0.682																																						dbGAP											0													18.0	24.0	22.0					17																	40761332		2071	4160	6231	-	-	-	SO:0001583	missense	0			BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.11C>T	17.37:g.40761332G>A	ENSP00000309432:p.Ala4Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR75	Missense_Mutation	SNP	NULL	p.A4V	ENST00000309428.5	37	c.11	CCDS11432.1	17	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812631	0.32053	.	.	ENSG00000141699	ENST00000309428	T	0.46063	0.88	5.17	3.19	0.36642	.	0.879584	0.10197	N	0.703823	T	0.27933	0.0688	N	0.24115	0.695	0.45806	D	0.998681	B	0.02656	0.0	B	0.04013	0.001	T	0.13656	-1.0501	10	0.66056	D	0.02	0.0446	5.0503	0.14505	0.248:0.0:0.6026:0.1494	.	4	Q86VR2	F134C_HUMAN	V	4	ENSP00000309432:A4V	ENSP00000309432:A4V	A	-	2	0	FAM134C	38014858	0.001000	0.12720	0.426000	0.26672	0.250000	0.25880	0.441000	0.21611	0.776000	0.33473	0.561000	0.74099	GCC	FAM134C	-	NULL	ENSG00000141699		0.682	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM134C	HGNC	protein_coding	OTTHUMT00000450536.1	38	0.00	0	G	NM_178126		40761332	40761332	-1	no_errors	ENST00000309428	ensembl	human	known	69_37n	missense	31	20.00	8	SNP	0.515	A
FAM86EP	348926	genome.wustl.edu	37	4	3948533	3948533	+	RNA	SNP	T	T	G	rs111885043	byFrequency	TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr4:3948533T>G	ENST00000313946.8	-	0	1232				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		CTGTGGGTTGTGGACGGTAAA	0.662																																						dbGAP											0																																										-	-	-			0					4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3948533T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000313946.8	37	NULL		4																																																																																			FAM86EP	-	-	ENSG00000251669		0.662	FAM86EP-002	KNOWN	basic	processed_transcript	FAM86EP	HGNC	pseudogene	OTTHUMT00000357822.1	106	0.00	0	T			3948533	3948533	-1	no_errors	ENST00000511488	ensembl	human	known	69_37n	rna	107	20.74	28	SNP	0.936	G
FZD10	11211	genome.wustl.edu	37	12	130648819	130648819	+	Silent	SNP	C	C	T			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr12:130648819C>T	ENST00000229030.4	+	1	1816	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R412W			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	444					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGGTGCGTATCGGGCTCTTCT	0.592																																						dbGAP											0													172.0	163.0	166.0					12																	130648819		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1332C>T	12.37:g.130648819C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R412W	ENST00000229030.4	37	c.1234	CCDS9267.1	12	.	.	.	.	.	.	.	.	.	.	C	7.044	0.563182	0.13498	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	2.16	0.27623	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56300	-0.8002	5	0.87932	D	0	.	4.0408	0.09750	0.2968:0.4675:0.0:0.2357	.	.	.	.	W	412	.	ENSP00000438460:R412W	R	+	1	2	FZD10	129214772	0.023000	0.18921	0.997000	0.53966	0.574000	0.36063	-0.754000	0.04787	0.136000	0.18733	0.561000	0.74099	CGG	FZD10	-	NULL	ENSG00000111432		0.592	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding		37	0.00	0	C			130648819	130648819	+1	no_errors	ENST00000539839	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.999	T
GOLGA6L2	283685	genome.wustl.edu	37	15	23685092	23685094	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr15:23685092_23685094delCTC	ENST00000567107.1	-	8	2580_2582	c.2528_2530delGAG	c.(2527-2532)ggagaa>gaa	p.G843del	GOLGA6L2_ENST00000345070.5_Intron|GOLGA6L2_ENST00000312015.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	602										breast(1)|endometrium(7)	8						cccgcatcttctcctcctgctcc	0.626																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2528_2530delGAG	15.37:g.23685095_23685097delCTC	ENSP00000454407:p.Gly843del	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L301	In_Frame_Del	DEL	NULL	p.G843in_frame_del	ENST00000567107.1	37	c.2530_2528		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.626	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	85	0.00	0	CTC	NM_182561		23685092	23685094	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	in_frame_del	150	10.65	18	DEL	0.001:0.002:0.002	-
HRNR	388697	genome.wustl.edu	37	1	152188920	152188920	+	Missense_Mutation	SNP	C	C	T	rs61814942	byFrequency	TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr1:152188920C>T	ENST00000368801.2	-	3	5260	c.5185G>A	c.(5185-5187)Ggc>Agc	p.G1729S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1729					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGGCCGTGGCTGGAG	0.632																																						dbGAP											0													4.0	2.0	2.0					1																	152188920		858	1811	2669	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5185G>A	1.37:g.152188920C>T	ENSP00000357791:p.Gly1729Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G1729S	ENST00000368801.2	37	c.5185	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	7.149	0.583367	0.13749	.	.	ENSG00000197915	ENST00000368801	T	0.02916	4.11	3.01	-5.46	0.02608	.	.	.	.	.	T	0.00468	0.0015	N	0.10972	0.075	0.09310	N	1	B	0.19706	0.038	B	0.11329	0.006	T	0.44636	-0.9315	9	0.15952	T	0.53	.	10.2312	0.43256	0.0:0.4711:0.0:0.5289	.	1729	Q86YZ3	HORN_HUMAN	S	1729	ENSP00000357791:G1729S	ENSP00000357791:G1729S	G	-	1	0	HRNR	150455544	0.968000	0.33430	0.000000	0.03702	0.000000	0.00434	-0.277000	0.08502	-1.733000	0.01357	-1.377000	0.01181	GGC	HRNR	-	NULL	ENSG00000197915		0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	22	0.00	0	C	XM_373868		152188920	152188920	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	32	27.27	12	SNP	0.000	T
KIAA1210	57481	genome.wustl.edu	37	X	118215342	118215342	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chrX:118215342C>A	ENST00000402510.2	-	14	5079	c.5080G>T	c.(5080-5082)Gcc>Tcc	p.A1694S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1694										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCTTCCTGGCCAGTGAGAAC	0.438																																						dbGAP											0													147.0	134.0	138.0					X																	118215342		1902	4104	6006	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.5080G>T	X.37:g.118215342C>A	ENSP00000384670:p.Ala1694Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.A1694S	ENST00000402510.2	37	c.5080	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.669156|4.669156	0.88348|0.88348	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.42131|.	0.98|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|.	.|.	.|.	.|.	T|T	0.68035|0.68035	0.2957|0.2957	M|M	0.79926|0.79926	2.475|2.475	0.32104|0.32104	N|N	0.590238|0.590238	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.75065|0.75065	-0.3449|-0.3449	9|5	0.87932|.	D|.	0|.	.|.	13.6465|13.6465	0.62286|0.62286	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1694|.	Q9ULL0|.	K1210_HUMAN|.	S|V	1694|1100	ENSP00000384670:A1694S|.	ENSP00000384670:A1694S|.	A|G	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118099370|118099370	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	3.940000|3.940000	0.56599|0.56599	2.532000|2.532000	0.85374|0.85374	0.594000|0.594000	0.82650|0.82650	GCC|GGC	KIAA1210	-	NULL	ENSG00000250423		0.438	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	47	0.00	0	C	NM_020721		118215342	118215342	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	50	15.25	9	SNP	1.000	A
PCDH15	65217	genome.wustl.edu	37	10	55973752	55973752	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr10:55973752T>C	ENST00000320301.6	-	10	1436	c.1042A>G	c.(1042-1044)Agt>Ggt	p.S348G	PCDH15_ENST00000395445.1_Missense_Mutation_p.S348G|PCDH15_ENST00000395442.1_Missense_Mutation_p.S348G|PCDH15_ENST00000437009.1_Missense_Mutation_p.S348G|PCDH15_ENST00000373965.2_Missense_Mutation_p.S348G|PCDH15_ENST00000361849.3_Missense_Mutation_p.S348G|PCDH15_ENST00000395446.1_Missense_Mutation_p.S348G|PCDH15_ENST00000373955.1_Missense_Mutation_p.S348G|PCDH15_ENST00000373957.3_Missense_Mutation_p.S326G|PCDH15_ENST00000395430.1_Missense_Mutation_p.S348G|PCDH15_ENST00000395433.1_Missense_Mutation_p.S326G|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S311G|PCDH15_ENST00000395438.1_Missense_Mutation_p.S348G|PCDH15_ENST00000395440.1_Missense_Mutation_p.S348G|PCDH15_ENST00000414778.1_Missense_Mutation_p.S353G	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	348	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCAGGAGACTAAGTTCTGCT	0.368										HNSCC(58;0.16)																												dbGAP											0													88.0	89.0	88.0					10																	55973752		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1042A>G	10.37:g.55973752T>C	ENSP00000322604:p.Ser348Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S348G	ENST00000320301.6	37	c.1042	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696481	0.48202	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;2.36;1.08;1.08;1.08;1.08;1.08;1.08;1.08	4.99	3.81	0.43845	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33904	0.0879	L	0.42245	1.32	0.19300	N	0.99998	P;B;B;P;B;B;P;B;B;B;B;B;B;B;B	0.36789	0.552;0.354;0.354;0.57;0.208;0.354;0.552;0.061;0.354;0.354;0.037;0.061;0.03;0.142;0.354	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32149	0.141;0.098;0.098;0.098;0.098;0.098;0.141;0.027;0.09;0.138;0.017;0.017;0.06;0.098;0.098	T	0.09862	-1.0655	9	0.46703	T	0.11	.	11.6157	0.51088	0.0:0.0:0.1495:0.8505	.	326;348;348;353;348;311;348;348;348;348;348;353;348;326;348	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	G	348;353;348;348;348;348;348;348;311;348;326;326;348;348;353;348;348	ENSP00000363076:S348G;ENSP00000410304:S353G;ENSP00000378826:S348G;ENSP00000378832:S348G;ENSP00000378833:S348G;ENSP00000378829:S348G;ENSP00000378827:S348G;ENSP00000378820:S311G;ENSP00000354950:S348G;ENSP00000378821:S326G;ENSP00000363068:S326G;ENSP00000322604:S348G;ENSP00000378818:S348G;ENSP00000412628:S348G;ENSP00000363066:S348G	ENSP00000322604:S348G	S	-	1	0	PCDH15	55643758	0.992000	0.36948	0.974000	0.42286	0.997000	0.91878	1.879000	0.39618	0.813000	0.34350	0.455000	0.32223	AGT	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000150275		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	34	0.00	0	T	NM_033056		55973752	55973752	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	missense	24	11.11	3	SNP	0.999	C
PCDHGA10	56106	genome.wustl.edu	37	5	140793054	140793054	+	Silent	SNP	G	G	A			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr5:140793054G>A	ENST00000398610.2	+	1	312	c.312G>A	c.(310-312)gcG>gcA	p.A104A	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGAGCGCGCGGTGCGTGG	0.517																																						dbGAP											0													67.0	81.0	76.0					5																	140793054		2139	4283	6422	-	-	-	SO:0001819	synonymous_variant	0				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.312G>A	5.37:g.140793054G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A104	ENST00000398610.2	37	c.312	CCDS47292.1	5																																																																																			PCDHGA10	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253846		0.517	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	HGNC	protein_coding	OTTHUMT00000374747.1	29	0.00	0	G	NM_018913		140793054	140793054	+1	no_errors	ENST00000398610	ensembl	human	known	69_37n	silent	26	33.33	13	SNP	0.001	A
POLE	5426	genome.wustl.edu	37	12	133252323	133252323	+	Silent	SNP	G	G	A			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr12:133252323G>A	ENST00000320574.5	-	11	1147	c.1104C>T	c.(1102-1104)gaC>gaT	p.D368D	POLE_ENST00000535270.1_Silent_p.D341D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	368					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGACTCACCAGTCAAAAAAGT	0.537								DNA polymerases (catalytic subunits)																														dbGAP											0													122.0	118.0	119.0					12																	133252323		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1104C>T	12.37:g.133252323G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.D379	ENST00000320574.5	37	c.1137	CCDS9278.1	12																																																																																			POLE	-	pfam_DNA-dir_DNA_pol_B_exonuc,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	ENSG00000177084		0.537	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	26	0.00	0	G	NM_006231		133252323	133252323	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	1.000	A
PPOX	5498	genome.wustl.edu	37	1	161137204	161137204	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr1:161137204G>A	ENST00000367999.4	+	4	532	c.266G>A	c.(265-267)gGa>gAa	p.G89E	PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.G89E|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	89					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTGTCCGGGGAGACCACCCA	0.577																																						dbGAP											0													70.0	69.0	69.0					1																	161137204		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.266G>A	1.37:g.161137204G>A	ENSP00000356978:p.Gly89Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVG0|Q5VTW8	Missense_Mutation	SNP	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.G89E	ENST00000367999.4	37	c.266	CCDS1221.1	1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677028	0.68042	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.92858	-3.12;-3.12	4.85	4.85	0.62838	Amine oxidase (1);	0.403725	0.27686	N	0.018276	D	0.89213	0.6651	L	0.29908	0.895	0.80722	D	1	D	0.58268	0.982	D	0.72338	0.977	D	0.85491	0.1185	10	0.02654	T	1	2.6297	17.2611	0.87070	0.0:0.0:1.0:0.0	.	89	P50336	PPOX_HUMAN	E	89;89;94	ENSP00000343943:G89E;ENSP00000356978:G89E	ENSP00000343943:G89E	G	+	2	0	PPOX	159403828	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.458000	0.53014	2.677000	0.91161	0.491000	0.48974	GGA	PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	ENSG00000143224		0.577	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	39	0.00	0	G	NM_000309		161137204	161137204	+1	no_errors	ENST00000352210	ensembl	human	known	69_37n	missense	60	10.29	7	SNP	0.999	A
SIN3A	25942	genome.wustl.edu	37	15	75673022	75673022	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr15:75673022T>C	ENST00000394947.3	-	19	3645	c.3331A>G	c.(3331-3333)Acc>Gcc	p.T1111A	SIN3A_ENST00000360439.4_Missense_Mutation_p.T1111A|SIN3A_ENST00000394949.4_Missense_Mutation_p.T1111A	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCAGGCGAGGTAGTATCTGAA	0.463																																						dbGAP											0													214.0	169.0	184.0					15																	75673022		2197	4294	6491	-	-	-	SO:0001583	missense	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3331A>G	15.37:g.75673022T>C	ENSP00000378402:p.Thr1111Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.T1111A	ENST00000394947.3	37	c.3331	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	T	8.637	0.895119	0.17613	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.51325	0.71;0.71;0.71	5.65	5.65	0.86999	.	0.044822	0.85682	D	0.000000	T	0.30355	0.0762	N	0.11560	0.145	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.08472	-1.0720	10	0.27785	T	0.31	-19.7343	15.0572	0.71925	0.0:0.0:0.0:1.0	.	1111	Q96ST3	SIN3A_HUMAN	A	1111	ENSP00000378402:T1111A;ENSP00000378403:T1111A;ENSP00000353622:T1111A	ENSP00000353622:T1111A	T	-	1	0	SIN3A	73460075	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.354000	0.52254	2.143000	0.66587	0.528000	0.53228	ACC	SIN3A	-	NULL	ENSG00000169375		0.463	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	39	0.00	0	T	NM_015477		75673022	75673022	-1	no_errors	ENST00000360439	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	1.000	C
TUBE1	51175	genome.wustl.edu	37	6	112394011	112394011	+	Silent	SNP	G	G	A			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr6:112394011G>A	ENST00000368662.5	-	10	1122	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	348					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	CTCTAACCATGAGTGCACAGG	0.398																																						dbGAP											0													108.0	113.0	112.0					6																	112394011		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.1044C>T	6.37:g.112394011G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H8W8|Q8NEG3	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin	p.L348	ENST00000368662.5	37	c.1044	CCDS5100.1	6																																																																																			TUBE1	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom	ENSG00000074935		0.398	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBE1	HGNC	protein_coding	OTTHUMT00000041867.1	38	0.00	0	G	NM_016262		112394011	112394011	-1	no_errors	ENST00000368662	ensembl	human	known	69_37n	silent	35	28.57	14	SNP	0.980	A
ZNF846	162993	genome.wustl.edu	37	19	9868562	9868562	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A3HN-01A-11D-A20S-09	TCGA-AC-A3HN-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e68140c8-fe1c-4293-948f-851bf3317ce3	5dc52294-fbb0-4f6a-a15e-5588e8a4751d	g.chr19:9868562T>A	ENST00000397902.2	-	6	1604	c.1191A>T	c.(1189-1191)aaA>aaT	p.K397N	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCCACATTCTTTACATTCAT	0.388																																						dbGAP											0													84.0	94.0	91.0					19																	9868562		2181	4296	6477	-	-	-	SO:0001583	missense	0			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1191A>T	19.37:g.9868562T>A	ENSP00000380999:p.Lys397Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H1|B3KUP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K397N	ENST00000397902.2	37	c.1191	CCDS42496.1	19	.	.	.	.	.	.	.	.	.	.	.	11.52	1.663863	0.29515	.	.	ENSG00000196605	ENST00000397902	T	0.08546	3.08	2.01	-4.02	0.04034	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	N	0.13272	0.32	0.09310	N	1	P	0.37914	0.611	B	0.34536	0.185	T	0.34254	-0.9836	8	.	.	.	.	0.9359	0.01344	0.1675:0.2118:0.1669:0.4537	.	397	Q147U1	ZN846_HUMAN	N	397	ENSP00000380999:K397N	.	K	-	3	2	ZNF846	9729562	0.000000	0.05858	0.078000	0.20375	0.929000	0.56500	-6.095000	0.00081	-1.044000	0.03254	0.374000	0.22700	AAA	ZNF846	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196605		0.388	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF846	HGNC	protein_coding	OTTHUMT00000450253.1	19	0.00	0	T	NM_001077624		9868562	9868562	-1	no_errors	ENST00000397902	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	0.001	A
