#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
AARS	16	genome.wustl.edu	37	16	70293052	70293052	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr16:70293052G>A	ENST00000261772.8	-	14	1966	c.1823C>T	c.(1822-1824)aCg>aTg	p.T608M	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase									p.T608M(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CAGAATGTGCGTAGCTGTGTG	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											158.0	135.0	143.0					16																	70293052		2198	4300	6498	-	-	-	SO:0001583	missense	0			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1823C>T	16.37:g.70293052G>A	ENSP00000261772:p.Thr608Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	p.T608M	ENST00000261772.8	37	c.1823	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985844	0.93044	.	.	ENSG00000090861	ENST00000261772	T	0.72167	-0.63	5.7	5.7	0.88788	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	H	0.99842	4.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95486	0.8565	10	0.87932	D	0	-23.4441	17.3409	0.87296	0.0:0.0:1.0:0.0	.	616;608	E7ETK8;P49588	.;SYAC_HUMAN	M	608	ENSP00000261772:T608M	ENSP00000261772:T608M	T	-	2	0	AARS	68850553	1.000000	0.71417	0.745000	0.31077	0.933000	0.57130	9.816000	0.99350	2.688000	0.91661	0.655000	0.94253	ACG	AARS	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	ENSG00000090861		0.532	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	162	0.61	1	G	NM_001605		70293052	70293052	-1	no_errors	ENST00000261772	ensembl	human	known	69_37n	missense	67	39.09	43	SNP	1.000	A
ADPRHL2	54936	genome.wustl.edu	37	1	36557572	36557573	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr1:36557572_36557573insA	ENST00000373178.4	+	4	608_609	c.578_579insA	c.(577-582)ctgcagfs	p.Q194fs		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	194						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GGCGCCATCCTGCAGGCCCTGG	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	Exception_encountered	1.37:g.36557572_36557573insA	ENSP00000362273:p.Gln194fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G94|Q6IAB8|Q9BY47	Frame_Shift_Ins	INS	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1	p.Q194fs	ENST00000373178.4	37	c.578_579	CCDS402.1	1																																																																																			ADPRHL2	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1	ENSG00000116863		0.634	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRHL2	HGNC	protein_coding	OTTHUMT00000020199.1	141	0.00	0	-	NM_017825		36557572	36557573	+1	no_errors	ENST00000373178	ensembl	human	known	69_37n	frame_shift_ins	74	30.84	33	INS	1.000:1.000	A
BNC1	646	genome.wustl.edu	37	15	83926358	83926358	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr15:83926358C>T	ENST00000345382.2	-	5	2906	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.G934R	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	941					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G941R(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTAAAGGTCCCTTTGTTACTG	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											141.0	146.0	144.0					15																	83926358		2203	4300	6503	-	-	-	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2821G>A	15.37:g.83926358C>T	ENSP00000307041:p.Gly941Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G941R	ENST00000345382.2	37	c.2821	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.094912	0.94197	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.23754	1.89	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.052710	0.85682	D	0.000000	T	0.56426	0.1984	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57225	-0.7848	10	0.87932	D	0	-32.2939	20.3398	0.98759	0.0:1.0:0.0:0.0	.	934;941	F5GY04;Q01954	.;BNC1_HUMAN	R	941;934	ENSP00000307041:G941R	ENSP00000307041:G941R	G	-	1	0	BNC1	81717362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.604000	0.82830	2.811000	0.96726	0.557000	0.71058	GGG	BNC1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169594		0.512	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	165	0.00	0	C	NM_001717		83926358	83926358	-1	no_errors	ENST00000345382	ensembl	human	known	69_37n	missense	115	27.22	43	SNP	1.000	T
CADM3	57863	genome.wustl.edu	37	1	159170670	159170670	+	Silent	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr1:159170670C>T	ENST00000368125.4	+	9	1312	c.1155C>T	c.(1153-1155)ggC>ggT	p.G385G	DARC_ENST00000537147.1_5'Flank|CTA-134P22.2_ENST00000415675.2_RNA|CTA-134P22.2_ENST00000609696.1_RNA|CADM3_ENST00000368124.4_Silent_p.G419G|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	385					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.G419G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ATGCAGAAGGCGGGCAGTCAG	0.612																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											93.0	88.0	90.0					1																	159170670		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1155C>T	1.37:g.159170670C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.G419	ENST00000368125.4	37	c.1257	CCDS44251.1	1																																																																																			CADM3	-	NULL	ENSG00000162706		0.612	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	HGNC	protein_coding	OTTHUMT00000090330.1	134	0.00	0	C	NM_021189		159170670	159170670	+1	no_errors	ENST00000368124	ensembl	human	known	69_37n	silent	115	18.31	26	SNP	1.000	T
CACNA1E	777	genome.wustl.edu	37	1	181689373	181689373	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr1:181689373T>C	ENST00000367573.2	+	14	1783	c.1783T>C	c.(1783-1785)Tcc>Ccc	p.S595P	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S595P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S546P|CACNA1E_ENST00000526775.1_Missense_Mutation_p.S595P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S595P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S202P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S546P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	595					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.S595P(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTGGTGGTCTCCTTGATGAG	0.478																																						dbGAP											2	Substitution - Missense(2)	breast(2)											244.0	226.0	232.0					1																	181689373		2011	4170	6181	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1783T>C	1.37:g.181689373T>C	ENSP00000356545:p.Ser595Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.S595P	ENST00000367573.2	37	c.1783	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902778	0.92035	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16;-5.16;-5.16;-5.16	5.15	5.15	0.70609	.	0.103268	0.64402	D	0.000002	D	0.99372	0.9779	H	0.95712	3.71	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	D	0.98597	1.0657	10	0.87932	D	0	.	14.6452	0.68756	0.0:0.0:0.0:1.0	.	595;595	Q15878-2;Q15878-3	.;.	P	595;595;546;546;202;595;595	ENSP00000356542:S595P;ENSP00000434814:S595P;ENSP00000350183:S546P;ENSP00000351101:S546P;ENSP00000356539:S202P;ENSP00000353222:S595P;ENSP00000356545:S595P	ENSP00000350183:S546P	S	+	1	0	CACNA1E	179955996	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.930000	0.87610	1.938000	0.56188	0.460000	0.39030	TCC	CACNA1E	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000198216		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	398	0.00	0	T	NM_000721		181689373	181689373	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	371	23.25	113	SNP	1.000	C
CD83	9308	genome.wustl.edu	37	6	14118244	14118244	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr6:14118244C>T	ENST00000379153.3	+	2	272	c.101C>T	c.(100-102)cCc>cTc	p.P34L		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	34	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P34L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GTGGACTTGCCCTGCACCGCC	0.627																																						dbGAP											1	Substitution - Missense(1)	breast(1)											31.0	32.0	32.0					6																	14118244		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.101C>T	6.37:g.14118244C>T	ENSP00000368450:p.Pro34Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5THX9	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.P34L	ENST00000379153.3	37	c.101	CCDS4532.1	6	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249618	0.80024	.	.	ENSG00000112149	ENST00000379153	T	0.67698	-0.28	4.56	3.67	0.42095	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.484636	0.19585	N	0.110747	T	0.66208	0.2766	L	0.61218	1.895	0.44587	D	0.997557	D	0.58620	0.983	P	0.60415	0.874	T	0.69632	-0.5093	10	0.62326	D	0.03	-5.2818	7.563	0.27862	0.0:0.8843:0.0:0.1157	.	34	Q01151	CD83_HUMAN	L	34	ENSP00000368450:P34L	ENSP00000368450:P34L	P	+	2	0	CD83	14226223	0.995000	0.38212	0.982000	0.44146	0.989000	0.77384	1.563000	0.36364	2.067000	0.61834	0.491000	0.48974	CCC	CD83	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	ENSG00000112149		0.627	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD83	HGNC	protein_coding	OTTHUMT00000039916.1	85	0.00	0	C			14118244	14118244	+1	no_errors	ENST00000379153	ensembl	human	known	69_37n	missense	43	16.98	9	SNP	0.993	T
F2R	2149	genome.wustl.edu	37	5	76028303	76028303	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr5:76028303C>A	ENST00000319211.4	+	2	518	c.253C>A	c.(253-255)Cct>Act	p.P85T		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	85					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.P85T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AAAACAACTTCCTGCATTCAT	0.438																																						dbGAP											1	Substitution - Missense(1)	breast(1)											157.0	160.0	159.0					5																	76028303		2203	4300	6503	-	-	-	SO:0001583	missense	0			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.253C>A	5.37:g.76028303C>A	ENSP00000321326:p.Pro85Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Thrmbn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.P85T	ENST00000319211.4	37	c.253	CCDS4032.1	5	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272364	0.23221	.	.	ENSG00000181104	ENST00000319211	T	0.75260	-0.92	4.88	-1.52	0.08637	.	0.892849	0.09823	N	0.751193	T	0.57140	0.2033	L	0.42245	1.32	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.36456	-0.9747	10	0.20046	T	0.44	-0.5484	1.0667	0.01612	0.1458:0.3128:0.2843:0.2571	.	85	P25116	PAR1_HUMAN	T	85	ENSP00000321326:P85T	ENSP00000321326:P85T	P	+	1	0	F2R	76064059	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-1.050000	0.03510	-0.440000	0.07211	0.555000	0.69702	CCT	F2R	-	NULL	ENSG00000181104		0.438	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	HGNC	protein_coding	OTTHUMT00000254068.2	177	0.00	0	C			76028303	76028303	+1	no_errors	ENST00000319211	ensembl	human	known	69_37n	missense	100	36.71	58	SNP	0.000	A
FAM102A	399665	genome.wustl.edu	37	9	130716172	130716172	+	Missense_Mutation	SNP	C	C	A	rs372554454		TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr9:130716172C>A	ENST00000373095.1	-	2	554	c.179G>T	c.(178-180)cGa>cTa	p.R60L		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	60								p.R60L(1)		breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GAACCTCTTTCGCCACCGCAC	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											97.0	88.0	91.0					9																	130716172		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.179G>T	9.37:g.130716172C>A	ENSP00000362187:p.Arg60Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A329|Q8TEL4	Missense_Mutation	SNP	pfam_NT-C2	p.R60L	ENST00000373095.1	37	c.179	CCDS35150.1	9	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624590	0.66901	.	.	ENSG00000167106	ENST00000373095	T	0.42900	0.96	5.9	4.98	0.66077	.	0.167220	0.51477	D	0.000091	T	0.44350	0.1289	M	0.76838	2.35	0.80722	D	1	B	0.28760	0.221	B	0.28991	0.097	T	0.41179	-0.9523	10	0.42905	T	0.14	-13.2184	10.3166	0.43740	0.0:0.8347:0.0:0.1653	.	60	Q5T9C2	F102A_HUMAN	L	60	ENSP00000362187:R60L	ENSP00000362187:R60L	R	-	2	0	FAM102A	129755993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.555000	0.45854	1.430000	0.47334	0.655000	0.94253	CGA	FAM102A	-	pfam_NT-C2	ENSG00000167106		0.617	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102A	HGNC	protein_coding	OTTHUMT00000054298.2	63	0.00	0	C			130716172	130716172	-1	no_errors	ENST00000373095	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	1.000	A
FAM9B	171483	genome.wustl.edu	37	X	8997417	8997417	+	Silent	SNP	G	G	A			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chrX:8997417G>A	ENST00000327220.5	-	6	688	c.324C>T	c.(322-324)gtC>gtT	p.V108V	FAM9B_ENST00000428477.1_Silent_p.V108V|FAM9B_ENST00000362066.3_Silent_p.V148V			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	108						nucleus (GO:0005634)		p.V108V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				ATTCTTCAAGGACATTTAGCA	0.363																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											210.0	158.0	175.0					X																	8997417		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.324C>T	X.37:g.8997417G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0IJ68|Q8N7Z8	Silent	SNP	pfam_Cor1/Xlr/Xmr	p.V108	ENST00000327220.5	37	c.324	CCDS14132.1	X																																																																																			FAM9B	-	pfam_Cor1/Xlr/Xmr	ENSG00000177138		0.363	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9B	HGNC	protein_coding	OTTHUMT00000055702.2	478	0.21	1	G	NM_205849		8997417	8997417	-1	no_errors	ENST00000327220	ensembl	human	known	69_37n	silent	262	31.41	120	SNP	0.001	A
FLYWCH1	84256	genome.wustl.edu	37	16	2987149	2987150	+	Frame_Shift_Ins	INS	-	-	G	rs539931241		TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr16:2987149_2987150insG	ENST00000253928.9	+	7	1946_1947	c.1541_1542insG	c.(1540-1545)ctggggfs	p.LG514fs	FLYWCH1_ENST00000416288.2_Frame_Shift_Ins_p.LG513fs|FLYWCH1_ENST00000570752.1_3'UTR|LA16c-321D4.2_ENST00000573260.1_RNA|FLYWCH1_ENST00000399667.2_Frame_Shift_Ins_p.LG563fs			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	514						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						AAGACGCCCCTGGGGGGCAGCT	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1547dupG	16.37:g.2987155_2987155dupG	ENSP00000253928:p.Leu514fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Frame_Shift_Ins	INS	pfam_Znf_FLYWCH	p.S566fs	ENST00000253928.9	37	c.1688_1689		16																																																																																			FLYWCH1	-	pfam_Znf_FLYWCH	ENSG00000059122		0.653	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	FLYWCH1	HGNC	protein_coding	OTTHUMT00000436479.1	28	0.00	0	-	NM_032296		2987149	2987150	+1	no_errors	ENST00000399667	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.922:0.924	G
GPC5	2262	genome.wustl.edu	37	13	92345580	92345580	+	Silent	SNP	G	G	A	rs578139490		TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr13:92345580G>A	ENST00000377067.3	+	3	837	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	155			A -> V (in dbSNP:rs553717).		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.A155A(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TATTTGGTGCGGATGTTAATC	0.448													A|||	1	0.000199681	0.0	0.0	5008	,	,		18375	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	breast(1)											154.0	157.0	156.0					13																	92345580		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.465G>A	13.37:g.92345580G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R726|O60436|Q9BX27	Silent	SNP	pfam_Glypican	p.A155	ENST00000377067.3	37	c.465	CCDS9468.1	13																																																																																			GPC5	-	pfam_Glypican	ENSG00000179399		0.448	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	329	0.00	0	G	NM_004466		92345580	92345580	+1	no_errors	ENST00000377067	ensembl	human	known	69_37n	silent	123	36.73	72	SNP	0.055	A
GPR128	84873	genome.wustl.edu	37	3	100373700	100373700	+	Silent	SNP	A	A	C			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr3:100373700A>C	ENST00000273352.3	+	12	1669	c.1401A>C	c.(1399-1401)gtA>gtC	p.V467V	GPR128_ENST00000475887.1_Silent_p.V172V|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	467					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V467V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AAACCTCAGTAACCTGGGTTT	0.328																																					Pancreas(87;185 1975 7223 18722)	dbGAP											1	Substitution - coding silent(1)	breast(1)											76.0	72.0	74.0					3																	100373700		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1401A>C	3.37:g.100373700A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D94|Q86SQ2	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V467	ENST00000273352.3	37	c.1401	CCDS2938.1	3																																																																																			GPR128	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000144820		0.328	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	236	0.00	0	A			100373700	100373700	+1	no_errors	ENST00000273352	ensembl	human	known	69_37n	silent	183	26.80	67	SNP	0.967	C
HCFC2	29915	genome.wustl.edu	37	12	104487163	104487163	+	Splice_Site	SNP	G	G	A			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr12:104487163G>A	ENST00000229330.4	+	10	1388		c.e10-1		HCFC2_ENST00000550335.1_Splice_Site	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTCTTGTAGATCAATGATA	0.279																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	dbGAP											1	Unknown(1)	breast(1)											56.0	53.0	54.0					12																	104487163		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1285-1G>A	12.37:g.104487163G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Q5|C0H5X3	Splice_Site	SNP	-	e10-1	ENST00000229330.4	37	c.1285-1	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993170	0.19043	.	.	ENSG00000111727	ENST00000229330	.	.	.	5.28	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3491	0.26680	0.1948:0.0:0.8052:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HCFC2	103011293	1.000000	0.71417	0.915000	0.36163	0.311000	0.27955	2.962000	0.49176	1.351000	0.45789	0.591000	0.81541	.	HCFC2	-	-	ENSG00000111727		0.279	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	151	0.00	0	G	NM_013320	Intron	104487163	104487163	+1	no_errors	ENST00000229330	ensembl	human	known	69_37n	splice_site	104	13.22	16	SNP	0.859	A
HRNR	388697	genome.wustl.edu	37	1	152188994	152188994	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr1:152188994C>T	ENST00000368801.2	-	3	5186	c.5111G>A	c.(5110-5112)cGa>cAa	p.R1704Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1704					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)			AGACCCTTGTCGGCCGTGGCC	0.637																																						dbGAP											0													47.0	74.0	65.0					1																	152188994		1601	3160	4761	-	-	-	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.5111G>A	1.37:g.152188994C>T	ENSP00000357791:p.Arg1704Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.R1704Q	ENST00000368801.2	37	c.5111	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	c	8.603	0.887314	0.17540	.	.	ENSG00000197915	ENST00000368801	T	0.01455	4.87	2.9	-5.54	0.02544	.	.	.	.	.	T	0.00328	0.0010	N	0.11927	0.2	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.43621	-0.9380	9	0.13108	T	0.6	.	8.3188	0.32117	0.0:0.3935:0.0:0.6065	.	1704	Q86YZ3	HORN_HUMAN	Q	1704	ENSP00000357791:R1704Q	ENSP00000357791:R1704Q	R	-	2	0	HRNR	150455618	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.096000	0.03353	-1.244000	0.02516	-1.339000	0.01253	CGA	HRNR	-	NULL	ENSG00000197915		0.637	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	34	0.00	0	C	XM_373868		152188994	152188994	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	12	20.00	3	SNP	0.000	T
HMCN1	83872	genome.wustl.edu	37	1	185902884	185902884	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr1:185902884G>T	ENST00000271588.4	+	11	1985	c.1756G>T	c.(1756-1758)Gct>Tct	p.A586S	HMCN1_ENST00000367492.2_Missense_Mutation_p.A586S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	586	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A586S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTCAACGATGCTGGAGAGTA	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											158.0	151.0	154.0					1																	185902884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1756G>T	1.37:g.185902884G>T	ENSP00000271588:p.Ala586Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.A586S	ENST00000271588.4	37	c.1756	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382614	0.61845	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.26373	1.74;1.74	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.258495	0.38217	N	0.001765	T	0.38401	0.1039	L	0.31294	0.92	0.39301	D	0.964906	D	0.64830	0.994	D	0.76071	0.987	T	0.06391	-1.0829	10	0.10902	T	0.67	.	19.3681	0.94473	0.0:0.0:1.0:0.0	.	586	Q96RW7	HMCN1_HUMAN	S	586	ENSP00000271588:A586S;ENSP00000356462:A586S	ENSP00000271588:A586S	A	+	1	0	HMCN1	184169507	0.999000	0.42202	0.997000	0.53966	0.570000	0.35934	4.646000	0.61411	2.677000	0.91161	0.655000	0.94253	GCT	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143341		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	156	0.00	0	G	NM_031935		185902884	185902884	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	160	19.19	38	SNP	1.000	T
HSPD1	3329	genome.wustl.edu	37	2	198363534	198363534	+	Silent	SNP	C	C	T	rs565153254		TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr2:198363534C>T	ENST00000388968.3	-	2	306	c.39G>A	c.(37-39)ccG>ccA	p.P13P	HSPE1_ENST00000409468.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.P13P|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000345042.2_Silent_p.P13P|HSPE1_ENST00000409729.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	13					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.P13P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CCCTGGACACCGGTCTCATCT	0.502																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											52.0	49.0	50.0					2																	198363534		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.39G>A	2.37:g.198363534C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60	p.P13	ENST00000388968.3	37	c.39	CCDS33357.1	2																																																																																			HSPD1	-	NULL	ENSG00000144381		0.502	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPD1	HGNC	protein_coding	OTTHUMT00000335324.2	49	0.00	0	C	NM_002156		198363534	198363534	-1	no_errors	ENST00000345042	ensembl	human	known	69_37n	silent	39	15.22	7	SNP	0.844	T
KLHL20	27252	genome.wustl.edu	37	1	173703245	173703245	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr1:173703245G>T	ENST00000209884.4	+	3	553	c.417G>T	c.(415-417)caG>caT	p.Q139H	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	139					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.Q139H(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GCAATGTTCAGACTCTTCTGC	0.468																																					GBM(159;862 2695 6559 23041)	dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	78.0	81.0					1																	173703245		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.417G>T	1.37:g.173703245G>T	ENSP00000209884:p.Gln139His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Q139H	ENST00000209884.4	37	c.417	CCDS1310.1	1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883618	0.72410	.	.	ENSG00000076321	ENST00000209884	T	0.68479	-0.33	5.63	1.68	0.24146	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.87578	0.998;0.774	T	0.70457	-0.4866	9	.	.	.	.	9.2727	0.37681	0.3017:0.0:0.6983:0.0	.	139;139	Q9BS75;Q9Y2M5	.;KLH20_HUMAN	H	139	ENSP00000209884:Q139H	.	Q	+	3	2	KLHL20	171969868	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	6.672000	0.74477	0.331000	0.23511	0.644000	0.83932	CAG	KLHL20	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000076321		0.468	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL20	HGNC	protein_coding	OTTHUMT00000097582.1	219	0.00	0	G	NM_014458		173703245	173703245	+1	no_errors	ENST00000209884	ensembl	human	known	69_37n	missense	149	25.50	51	SNP	1.000	T
KLHL34	257240	genome.wustl.edu	37	X	21675045	21675046	+	Frame_Shift_Ins	INS	-	-	C	rs139183650	byFrequency	TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chrX:21675045_21675046insC	ENST00000379499.2	-	1	1402_1403	c.861_862insG	c.(859-864)gggcgcfs	p.R288fs		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	288						extracellular space (GO:0005615)		p.R288fs*9(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTGCCCTGCGCCCCCCCACCA	0.693																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.862dupG	X.37:g.21675052_21675052dupC	ENSP00000368813:p.Arg288fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R287fs	ENST00000379499.2	37	c.862_861	CCDS14199.1	X																																																																																			KLHL34	-	pirsf_Kelch-like_gigaxonin	ENSG00000185915		0.693	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL34	HGNC	protein_coding	OTTHUMT00000056022.1	13	0.00	0	-	NM_153270		21675045	21675046	-1	no_errors	ENST00000379499	ensembl	human	known	69_37n	frame_shift_ins	3	40.00	2	INS	0.005:0.005	C
LRP1	4035	genome.wustl.edu	37	12	57579378	57579379	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr12:57579378_57579379insA	ENST00000243077.3	+	41	6994_6995	c.6528_6529insA	c.(6529-6531)cagfs	p.Q2177fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2177	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGGCCGTGGGCAGCGGGCCTG	0.688																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	Exception_encountered	12.37:g.57579378_57579379insA	ENSP00000243077:p.Gln2177fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.Q2176fs	ENST00000243077.3	37	c.6528_6529	CCDS8932.1	12																																																																																			LRP1	-	smart_EGF-like	ENSG00000123384		0.688	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	31	0.00	0	-	NM_002332		57579378	57579379	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	frame_shift_ins	10	33.33	5	INS	0.882:0.965	A
LRP4	4038	genome.wustl.edu	37	11	46894758	46894758	+	Silent	SNP	G	G	A			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr11:46894758G>A	ENST00000378623.1	-	30	4718	c.4476C>T	c.(4474-4476)caC>caT	p.H1492H	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1492					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.H1492H(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCTTGGCAATGTGGCCCCAGT	0.532																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											95.0	83.0	87.0					11																	46894758		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4476C>T	11.37:g.46894758G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.H1492	ENST00000378623.1	37	c.4476	CCDS31478.1	11																																																																																			LRP4	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000134569		0.532	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	124	0.00	0	G	NM_002334		46894758	46894758	-1	no_errors	ENST00000378623	ensembl	human	known	69_37n	silent	97	21.77	27	SNP	1.000	A
LRRTM1	347730	genome.wustl.edu	37	2	80530339	80530340	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr2:80530339_80530340insT	ENST00000295057.3	-	2	1261_1262	c.605_606insA	c.(604-606)cgcfs	p.R202fs	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Frame_Shift_Ins_p.R202fs|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	202					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGAAAGAGTTGCGCGCCAGACT	0.589										HNSCC(69;0.2)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.605_606insA	2.37:g.80530339_80530340insT	ENSP00000295057:p.Arg202fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K397|D6W5K1|Q96DN1	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N203fs	ENST00000295057.3	37	c.606_605	CCDS1966.1	2																																																																																			LRRTM1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000162951		0.589	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	81	0.00	0	-	NM_178839		80530339	80530340	-1	no_errors	ENST00000295057	ensembl	human	known	69_37n	frame_shift_ins	46	55.34	57	INS	1.000:1.000	T
MAP3K8	1326	genome.wustl.edu	37	10	30747137	30747138	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr10:30747137_30747138insC	ENST00000263056.1	+	7	1694_1695	c.998_999insC	c.(997-1002)cgctcafs	p.S334fs	MAP3K8_ENST00000542547.1_Frame_Shift_Ins_p.S334fs|MAP3K8_ENST00000375321.1_Frame_Shift_Ins_p.S334fs	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	334	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CGCTACCCTCGCTCAGCCTATC	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.999dupC	10.37:g.30747138_30747138dupC	ENSP00000263056:p.Ser334fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S334fs	ENST00000263056.1	37	c.998_999	CCDS7166.1	10																																																																																			MAP3K8	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000107968		0.634	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAP3K8	HGNC	protein_coding	OTTHUMT00000047416.2	80	0.00	0	-	NM_005204		30747137	30747138	+1	no_errors	ENST00000263056	ensembl	human	known	69_37n	frame_shift_ins	45	19.64	11	INS	1.000:0.982	C
MRC2	9902	genome.wustl.edu	37	17	60743534	60743534	+	Silent	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr17:60743534C>T	ENST00000303375.5	+	3	1002	c.600C>T	c.(598-600)ggC>ggT	p.G200G		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	200	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.G200G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGTTCCACGGCTGCACCAGCA	0.617																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											63.0	46.0	51.0					17																	60743534		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.600C>T	17.37:g.60743534C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.G200	ENST00000303375.5	37	c.600	CCDS11634.1	17																																																																																			MRC2	-	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000011028		0.617	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	45	0.00	0	C			60743534	60743534	+1	no_errors	ENST00000303375	ensembl	human	known	69_37n	silent	18	41.94	13	SNP	0.998	T
MUC4	4585	genome.wustl.edu	37	3	195510990	195510990	+	Silent	SNP	C	C	T	rs3096347	byFrequency	TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr3:195510990C>T	ENST00000463781.3	-	2	7920	c.7461G>A	c.(7459-7461)tcG>tcA	p.S2487S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S2487S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGATACTGACGAAGCGTCGG	0.582																																						dbGAP											0													57.0	49.0	51.0					3																	195510990		651	1591	2242	-	-	-	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7461G>A	3.37:g.195510990C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.S2487	ENST00000463781.3	37	c.7461	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	38	0.00	0	C	NM_018406		195510990	195510990	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	38	17.54	10	SNP	0.007	T
NAV1	89796	genome.wustl.edu	37	1	201755667	201755667	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr1:201755667C>T	ENST00000367296.4	+	9	3377	c.2957C>T	c.(2956-2958)cCc>cTc	p.P986L	NAV1_ENST00000367300.3_Missense_Mutation_p.P986L|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367302.1_Missense_Mutation_p.P999L|NAV1_ENST00000367295.1_Missense_Mutation_p.P595L|NAV1_ENST00000295624.6_Missense_Mutation_p.P986L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.P986L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	986					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.P986L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTGCACTTCCCATGTCTCTG	0.562																																						dbGAP											1	Substitution - Missense(1)	breast(1)											216.0	182.0	194.0					1																	201755667		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2957C>T	1.37:g.201755667C>T	ENSP00000356265:p.Pro986Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.P986L	ENST00000367296.4	37	c.2957	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.32|17.32	3.358963|3.358963	0.61403|0.61403	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000438083	T;T;T;T;T;T|.	0.07327|.	3.22;3.2;3.2;3.2;3.22;3.2|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.507026|0.507026	0.21728|0.21728	N|N	0.070013|0.070013	T|T	0.46425|0.46425	0.1392|0.1392	N|N	0.11560|0.11560	0.145|0.145	0.40117|0.40117	D|D	0.976553|0.976553	B;B;B;B;B|.	0.34329|.	0.001;0.0;0.0;0.449;0.0|.	B;B;B;B;B|.	0.29077|.	0.004;0.001;0.004;0.098;0.001|.	T|T	0.44937|0.44937	-0.9295|-0.9295	10|6	0.42905|.	T|.	0.14|.	-4.1254|-4.1254	16.5178|16.5178	0.84305|0.84305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	986;595;986;494;986|.	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.;.;NAV1_HUMAN;.;.|.	L|S	999;986;986;986;986;494;595|34	ENSP00000356271:P999L;ENSP00000356265:P986L;ENSP00000295624:P986L;ENSP00000356266:P986L;ENSP00000356269:P986L;ENSP00000356264:P595L|.	ENSP00000295624:P986L|.	P|P	+|+	2|1	0|0	NAV1|NAV1	200022290|200022290	0.977000|0.977000	0.34250|0.34250	0.970000|0.970000	0.41538|0.41538	0.972000|0.972000	0.66771|0.66771	2.349000|2.349000	0.44054|0.44054	2.427000|2.427000	0.82271|0.82271	0.585000|0.585000	0.79938|0.79938	CCC|CCA	NAV1	-	NULL	ENSG00000134369		0.562	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	408	0.24	1	C	NM_020443		201755667	201755667	+1	no_errors	ENST00000367296	ensembl	human	known	69_37n	missense	338	12.18	47	SNP	1.000	T
NUP133	55746	genome.wustl.edu	37	1	229619833	229619833	+	Silent	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr1:229619833C>T	ENST00000261396.3	-	12	1651	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	NUP133_ENST00000537506.1_Silent_p.K504K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	520					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.K520K(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTTCAGCAACTTGATTTTAT	0.333																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											121.0	121.0	121.0					1																	229619833		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1560G>A	1.37:g.229619833C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.K520	ENST00000261396.3	37	c.1560	CCDS1579.1	1																																																																																			NUP133	-	NULL	ENSG00000069248		0.333	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1	588	0.00	0	C	NM_018230		229619833	229619833	-1	no_errors	ENST00000261396	ensembl	human	known	69_37n	silent	415	21.76	116	SNP	0.104	T
OR10H5	284433	genome.wustl.edu	37	19	15905356	15905356	+	Silent	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr19:15905356C>T	ENST00000308940.8	+	1	596	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L166L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TTTTCCACCTCGCCTTCTGTG	0.612																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											119.0	97.0	105.0					19																	15905356		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.498C>T	19.37:g.15905356C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFJ0|Q96R60	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L166	ENST00000308940.8	37	c.498	CCDS32940.1	19																																																																																			OR10H5	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172519		0.612	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1	369	0.00	0	C			15905356	15905356	+1	no_errors	ENST00000308940	ensembl	human	known	69_37n	silent	302	28.97	124	SNP	0.342	T
PCDHGA9	56107	genome.wustl.edu	37	5	140783298	140783298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr5:140783298delG	ENST00000573521.1	+	1	779	c.779delG	c.(778-780)tggfs	p.W260fs	PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	260	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGCACCTGGCTGCTTACT	0.463																																						dbGAP											0													50.0	55.0	53.0					5																	140783298		1898	4110	6008	-	-	-	SO:0001589	frameshift_variant	0			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.779delG	5.37:g.140783298delG	ENSP00000460274:p.Trp260fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU65|Q9Y5C9	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.W260fs	ENST00000573521.1	37	c.779	CCDS58981.1	5																																																																																			PCDHGA9	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000261934		0.463	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	32	0.00	0	G	NM_018921		140783298	140783298	+1	no_errors	ENST00000573521	ensembl	human	known	69_37n	frame_shift_del	25	21.88	7	DEL	0.000	-
GATB	5188	genome.wustl.edu	37	4	152679994	152679994	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr4:152679994T>G	ENST00000515812.1	-	2	273	c.257A>C	c.(256-258)cAa>cCa	p.Q86P	PET112_ENST00000508611.1_Missense_Mutation_p.Q86P|PET112_ENST00000512306.1_Missense_Mutation_p.Q86P|PET112_ENST00000263985.6_Missense_Mutation_p.Q86P														p.Q86P(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						AAAGCGAACTTGAGATCCAGA	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											124.0	129.0	128.0					4																	152679994		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000515812.1:c.257A>C	4.37:g.152679994T>G	ENSP00000426859:p.Gln86Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Gln-tRNA_amidoTrfase_bsu	p.Q86P	ENST00000515812.1	37	c.257		4	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929021	0.34002	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306;ENST00000508611	T;T;T;T	0.41758	1.05;1.07;1.03;0.99	5.92	4.75	0.60458	Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic (1);	0.169399	0.53938	D	0.000050	T	0.14184	0.0343	N	0.00493	-1.44	0.37339	D	0.91032	B;B	0.10296	0.003;0.001	B;B	0.12156	0.005;0.007	T	0.06463	-1.0825	10	0.46703	T	0.11	-17.3596	9.0691	0.36482	0.0:0.1402:0.0:0.8598	.	86;86	D6RDU9;O75879	.;GATB_HUMAN	P	86	ENSP00000263985:Q86P;ENSP00000426859:Q86P;ENSP00000420831:Q86P;ENSP00000421105:Q86P	ENSP00000263985:Q86P	Q	-	2	0	PET112	152899444	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.706000	0.47135	1.073000	0.40885	0.455000	0.32223	CAA	PET112	-	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Gln-tRNA_amidoTrfase_bsu	ENSG00000059691		0.383	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PET112	HGNC	protein_coding	OTTHUMT00000365672.1	201	0.00	0	T			152679994	152679994	-1	no_errors	ENST00000263985	ensembl	human	known	69_37n	missense	151	31.05	68	SNP	1.000	G
PI4KB	5298	genome.wustl.edu	37	1	151266606	151266606	+	Silent	SNP	G	G	A			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr1:151266606G>A	ENST00000368873.1	-	11	2325	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	PI4KB_ENST00000368875.2_Silent_p.G731G|PI4KB_ENST00000368874.4_Silent_p.G704G|PI4KB_ENST00000271657.5_Silent_p.G731G|PI4KB_ENST00000529142.1_Silent_p.G387G|PI4KB_ENST00000368872.1_Silent_p.G704G			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	719	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269, ECO:0000305}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.G731G(2)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATCCAGGCCGCCCATCACCT	0.557																																					Colon(154;765 1838 9854 28443 37492)	dbGAP											2	Substitution - coding silent(2)	breast(1)|endometrium(1)											87.0	74.0	78.0					1																	151266606		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2157C>T	1.37:g.151266606G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	superfamily_Kinase-like_dom	p.A25V	ENST00000368873.1	37	c.74		1	.	.	.	.	.	.	.	.	.	.	G	8.233	0.805167	0.16467	.	.	ENSG00000143393	ENST00000446339	.	.	.	5.52	-11.0	0.00169	.	.	.	.	.	T	0.16769	0.0403	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41963	-0.9479	4	.	.	.	-14.3981	3.186	0.06601	0.1719:0.2479:0.4159:0.1642	.	.	.	.	V	25	.	.	A	-	2	0	PI4KB	149533230	0.000000	0.05858	0.489000	0.27452	0.936000	0.57629	-2.607000	0.00887	-2.396000	0.00582	-0.471000	0.05019	GCG	PI4KB	-	superfamily_Kinase-like_dom	ENSG00000143393		0.557	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3	96	0.00	0	G	NM_002651		151266606	151266606	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000446339	ensembl	human	putative	69_37n	missense	80	22.86	24	SNP	0.014	A
PTCD3	55037	genome.wustl.edu	37	2	86344259	86344259	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr2:86344259G>A	ENST00000254630.7	+	6	457	c.391G>A	c.(391-393)Gac>Aac	p.D131N	PTCD3_ENST00000465560.1_3'UTR|PTCD3_ENST00000409277.3_Missense_Mutation_p.D131N	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	131					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.D131N(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTTTCAGAAGGACATAGCTGA	0.313																																						dbGAP											1	Substitution - Missense(1)	breast(1)											52.0	53.0	53.0					2																	86344259		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.391G>A	2.37:g.86344259G>A	ENSP00000254630:p.Asp131Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	NULL	p.D131N	ENST00000254630.7	37	c.391	CCDS33235.1	2	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493547	0.64186	.	.	ENSG00000132300	ENST00000254630;ENST00000409783;ENST00000409277	T;T;T	0.33216	1.42;1.42;1.42	5.01	4.13	0.48395	.	0.095525	0.64402	D	0.000002	T	0.39226	0.1070	M	0.78801	2.425	0.52501	D	0.999955	P	0.49961	0.93	P	0.45138	0.471	T	0.38993	-0.9635	10	0.44086	T	0.13	-13.3711	12.5724	0.56344	0.0829:0.0:0.9171:0.0	.	131	Q96EY7	PTCD3_HUMAN	N	131	ENSP00000254630:D131N;ENSP00000386922:D131N;ENSP00000386462:D131N	ENSP00000254630:D131N	D	+	1	0	PTCD3	86197770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.195000	0.58400	1.229000	0.43630	0.591000	0.81541	GAC	PTCD3	-	NULL	ENSG00000132300		0.313	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD3	HGNC	protein_coding	OTTHUMT00000329854.1	188	0.00	0	G	NM_017952		86344259	86344259	+1	no_errors	ENST00000254630	ensembl	human	known	69_37n	missense	118	33.33	59	SNP	1.000	A
RABEP1	9135	genome.wustl.edu	37	17	5238487	5238487	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr17:5238487C>T	ENST00000546142.2	+	4	563	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	RABEP1_ENST00000341923.6_Missense_Mutation_p.R126C|RABEP1_ENST00000408982.2_Missense_Mutation_p.R126C|RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000262477.6_Missense_Mutation_p.R126C|RABEP1_ENST00000537505.1_Missense_Mutation_p.R83C			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	126					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.R126C(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGAAACAGTTCGTGACTATGA	0.378																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|breast(1)											72.0	66.0	67.0					17																	5238487		1876	4110	5986	-	-	-	SO:0001583	missense	0			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.376C>T	17.37:g.5238487C>T	ENSP00000437701:p.Arg126Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.R126C	ENST00000546142.2	37	c.376	CCDS45592.1	17	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831476	0.50845	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.50001	0.76;0.77;0.76;0.77;0.81	5.92	4.95	0.65309	Rabaptin coiled-coil domain (1);	0.099413	0.64402	D	0.000001	T	0.39332	0.1074	L	0.33485	1.01	0.80722	D	1	B;B;B;B;B;B	0.18610	0.023;0.029;0.029;0.029;0.023;0.023	B;B;B;B;B;B	0.17098	0.01;0.017;0.017;0.017;0.01;0.01	T	0.23726	-1.0180	10	0.59425	D	0.04	-2.4868	14.0384	0.64660	0.0:0.9281:0.0:0.0719	.	83;83;126;126;126;126	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2;F5GZU7	.;.;.;RABE1_HUMAN;.;.	C	126;126;126;126;126;83	ENSP00000262477:R126C;ENSP00000386150:R126C;ENSP00000437701:R126C;ENSP00000339569:R126C;ENSP00000445408:R83C	ENSP00000262477:R126C	R	+	1	0	RABEP1	5179211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.533000	0.67160	1.507000	0.48752	0.655000	0.94253	CGT	RABEP1	-	pfam_Rabaptin_coiled-coil	ENSG00000029725		0.378	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	HGNC	protein_coding	OTTHUMT00000439349.1	153	0.00	0	C	NM_004703		5238487	5238487	+1	no_errors	ENST00000262477	ensembl	human	known	69_37n	missense	53	42.39	39	SNP	1.000	T
RYR1	6261	genome.wustl.edu	37	19	38946102	38946102	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr19:38946102C>T	ENST00000359596.3	+	15	1588	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	RYR1_ENST00000360985.3_Missense_Mutation_p.R530C|RYR1_ENST00000355481.4_Missense_Mutation_p.R530C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	530			R -> H (in MHS1). {ECO:0000269|PubMed:19191329}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R530C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTCTCTAATCCGTGGCAATCG	0.582																																						dbGAP											1	Substitution - Missense(1)	breast(1)											103.0	96.0	98.0					19																	38946102		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1588C>T	19.37:g.38946102C>T	ENSP00000352608:p.Arg530Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R530C	ENST00000359596.3	37	c.1588	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208206	0.39003	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96300	-3.97;-3.97;-3.97	4.01	4.01	0.46588	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000002	D	0.97857	0.9296	M	0.84683	2.71	0.51767	D	0.999932	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98177	1.0455	10	0.87932	D	0	.	11.2129	0.48808	0.1835:0.8165:0.0:0.0	.	530;530	P21817-2;P21817	.;RYR1_HUMAN	C	530	ENSP00000352608:R530C;ENSP00000347667:R530C;ENSP00000354254:R530C	ENSP00000347667:R530C	R	+	1	0	RYR1	43637942	0.999000	0.42202	1.000000	0.80357	0.869000	0.49853	1.403000	0.34612	2.054000	0.61138	0.407000	0.27541	CGT	RYR1	-	pfam_Ca-rel_channel	ENSG00000196218		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	1048	0.00	0	C			38946102	38946102	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	691	29.66	293	SNP	1.000	T
SLC9A8	23315	genome.wustl.edu	37	20	48431650	48431650	+	Silent	SNP	C	C	T	rs373949183		TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr20:48431650C>T	ENST00000361573.2	+	2	174	c.132C>T	c.(130-132)ccC>ccT	p.P44P	SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000417961.1_Silent_p.P44P			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	44					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.P44P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CCATCCTCCCCGTGCAGACAG	0.577																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											114.0	102.0	106.0					20																	48431650		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.132C>T	20.37:g.48431650C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.P44	ENST00000361573.2	37	c.132	CCDS13421.1	20																																																																																			SLC9A8	-	NULL	ENSG00000197818		0.577	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	HGNC	protein_coding	OTTHUMT00000106483.3	148	0.00	0	C	XM_030524		48431650	48431650	+1	no_errors	ENST00000417961	ensembl	human	known	69_37n	silent	78	37.98	49	SNP	0.000	T
SORT1	6272	genome.wustl.edu	37	1	109888491	109888491	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr1:109888491C>T	ENST00000256637.6	-	8	903	c.845G>A	c.(844-846)gGg>gAg	p.G282E	SORT1_ENST00000538502.1_Missense_Mutation_p.G145E	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	282					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.G282E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTCCAGAGCCCCAAGGTCAGC	0.353																																						dbGAP											1	Substitution - Missense(1)	breast(1)											74.0	76.0	75.0					1																	109888491		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.845G>A	1.37:g.109888491C>T	ENSP00000256637:p.Gly282Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	pfam_BNR_rpt,smart_VPS10	p.G282E	ENST00000256637.6	37	c.845	CCDS798.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910986	0.92178	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.22539	1.95;1.95	5.82	5.82	0.92795	VPS10 (1);	0.053834	0.85682	D	0.000000	T	0.25975	0.0633	M	0.66939	2.045	0.80722	D	1	D;D	0.71674	0.978;0.998	P;D	0.64776	0.732;0.929	T	0.12528	-1.0544	10	0.02654	T	1	-14.469	17.0118	0.86408	0.0:1.0:0.0:0.0	.	145;282	B4DWI3;Q99523	.;SORT_HUMAN	E	282;145	ENSP00000256637:G282E;ENSP00000438597:G145E	ENSP00000256637:G282E	G	-	2	0	SORT1	109690014	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	6.637000	0.74304	2.753000	0.94483	0.467000	0.42956	GGG	SORT1	-	smart_VPS10	ENSG00000134243		0.353	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1	168	0.00	0	C	NM_002959		109888491	109888491	-1	no_errors	ENST00000256637	ensembl	human	known	69_37n	missense	121	11.03	15	SNP	1.000	T
TCF25	22980	genome.wustl.edu	37	16	89964995	89964995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr16:89964995delG	ENST00000263346.8	+	10	1109	c.1053delG	c.(1051-1053)atgfs	p.M351fs	TCF25_ENST00000263347.7_Frame_Shift_Del_p.M116fs	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	351					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		ACAAGCAGATGAGCTTCCTGG	0.582																																						dbGAP											0													84.0	98.0	93.0					16																	89964995		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1053delG	16.37:g.89964995delG	ENSP00000263346:p.Met351fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2MK75|Q9UPV3	Frame_Shift_Del	DEL	pfam_TCF25	p.M351fs	ENST00000263346.8	37	c.1053	CCDS10987.1	16																																																																																			TCF25	-	pfam_TCF25	ENSG00000141002		0.582	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	13	0.00	0	G	NM_014972		89964995	89964995	+1	no_errors	ENST00000263346	ensembl	human	known	69_37n	frame_shift_del	15	50.00	15	DEL	1.000	-
TMEM57	55219	genome.wustl.edu	37	1	25824793	25824793	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr1:25824793A>G	ENST00000374343.4	+	11	2010	c.1831A>G	c.(1831-1833)Aaa>Gaa	p.K611E	TMEM57_ENST00000399766.3_Missense_Mutation_p.K384E|TMEM57_ENST00000399763.3_Missense_Mutation_p.K253E	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	611					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.K611E(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGACCTAAAACAGAAGAT	0.502																																						dbGAP											1	Substitution - Missense(1)	breast(1)											89.0	81.0	84.0					1																	25824793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1831A>G	1.37:g.25824793A>G	ENSP00000363463:p.Lys611Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	pfam_Macoilin,superfamily_Prefoldin	p.K611E	ENST00000374343.4	37	c.1831	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049698	0.75846	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;D;T	0.82984	-1.21;-1.67;-1.21	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.87578	0.994;0.997;0.998	D	0.91242	0.5022	10	0.48119	T	0.1	-17.5443	14.7311	0.69383	1.0:0.0:0.0:0.0	.	253;384;611	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	E	384;253;611	ENSP00000382668:K384E;ENSP00000382666:K253E;ENSP00000363463:K611E	ENSP00000363463:K611E	K	+	1	0	TMEM57	25697380	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	8.684000	0.91242	2.067000	0.61834	0.482000	0.46254	AAA	TMEM57	-	pfam_Macoilin	ENSG00000204178		0.502	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	HGNC	protein_coding	OTTHUMT00000009659.2	207	0.00	0	A	NM_018202		25824793	25824793	+1	no_errors	ENST00000374343	ensembl	human	known	69_37n	missense	94	38.16	58	SNP	0.997	G
TP53	7157	genome.wustl.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr17:7577144A>C	ENST00000269305.4	-	8	983	c.794T>G	c.(793-795)cTg>cGg	p.L265R	TP53_ENST00000420246.2_Missense_Mutation_p.L265R|TP53_ENST00000359597.4_Missense_Mutation_p.L265R|TP53_ENST00000445888.2_Missense_Mutation_p.L265R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.L265R|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTCCGTCCCAGTAGATTACC	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	42	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(3)|Deletion - Frameshift(3)	large_intestine(6)|lung(5)|oesophagus(5)|breast(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|upper_aerodigestive_tract(2)|stomach(2)|urinary_tract(2)|small_intestine(1)|skin(1)|eye(1)	GRCh37	CD004355|CM971505	TP53	D|M							46.0	41.0	43.0					17																	7577144		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.794T>G	17.37:g.7577144A>C	ENSP00000269305:p.Leu265Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L265R	ENST00000269305.4	37	c.794	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848055	0.71603	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99876	-7.41;-7.41;-7.41;-7.41;-7.41;-7.41	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99871	0.9939	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;1.0	D	0.96405	0.9300	10	0.87932	D	0	-15.8832	12.9367	0.58319	1.0:0.0:0.0:0.0	.	265;265;265;265	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	265;265;265;265;265;254;133	ENSP00000352610:L265R;ENSP00000269305:L265R;ENSP00000398846:L265R;ENSP00000391127:L265R;ENSP00000391478:L265R;ENSP00000425104:L133R	ENSP00000269305:L265R	L	-	2	0	TP53	7517869	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	9.060000	0.93907	2.154000	0.67381	0.379000	0.24179	CTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	234	0.00	0	A	NM_000546		7577144	7577144	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	104	36.20	59	SNP	1.000	C
TPTE2	93492	genome.wustl.edu	37	13	20041461	20041461	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr13:20041461A>G	ENST00000400230.2	-	7	460	c.416T>C	c.(415-417)tTa>tCa	p.L139S	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.L139S|TPTE2_ENST00000255310.6_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	139					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L139S(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AATGTTAAATAAGTCAGAAAA	0.303																																						dbGAP											1	Substitution - Missense(1)	breast(1)											24.0	28.0	27.0					13																	20041461		2193	4278	6471	-	-	-	SO:0001583	missense	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.416T>C	13.37:g.20041461A>G	ENSP00000383089:p.Leu139Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L139S	ENST00000400230.2	37	c.416	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	a	1.616	-0.522654	0.04141	.	.	ENSG00000132958	ENST00000400230;ENST00000382977;ENST00000343548	D;D	0.96587	-4.06;-4.06	2.4	-1.59	0.08453	Ion transport (1);	0.461649	0.20121	U	0.098804	D	0.91771	0.7397	L	0.47716	1.5	0.09310	N	1	P	0.38223	0.623	B	0.38225	0.268	D	0.85036	0.0920	9	.	.	.	-0.9796	5.9847	0.19428	0.4612:0.0:0.5388:0.0	.	139	Q6XPS3	TPTE2_HUMAN	S	139	ENSP00000383089:L139S;ENSP00000372437:L139S	.	L	-	2	0	TPTE2	18939461	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.005000	0.12855	-0.360000	0.08138	-0.456000	0.05471	TTA	TPTE2	-	pfam_Ion_trans_dom	ENSG00000132958		0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding		120	0.00	0	A	NM_199254		20041461	20041461	-1	no_errors	ENST00000382977	ensembl	human	known	69_37n	missense	40	33.33	20	SNP	0.000	G
TRERF1	55809	genome.wustl.edu	37	6	42222647	42222647	+	Silent	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr6:42222647C>T	ENST00000372922.4	-	13	3160	c.2598G>A	c.(2596-2598)ctG>ctA	p.L866L	TRERF1_ENST00000541110.1_Silent_p.L886L|TRERF1_ENST00000372917.4_Silent_p.L783L|TRERF1_ENST00000340840.2_Silent_p.L783L|TRERF1_ENST00000354325.2_Silent_p.L783L	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	866	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCGCAGTAGCAGCATTTCCA	0.507																																						dbGAP											0													76.0	72.0	74.0					6																	42222647		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2598G>A	6.37:g.42222647C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.L886	ENST00000372922.4	37	c.2658	CCDS4867.1	6																																																																																			TRERF1	-	pfscan_ELM2_dom	ENSG00000124496		0.507	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	46	0.00	0	C	NM_033502		42222647	42222647	-1	no_errors	ENST00000541110	ensembl	human	known	69_37n	silent	63	20.25	16	SNP	1.000	T
TTC23L	153657	genome.wustl.edu	37	5	34867065	34867065	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr5:34867065T>A	ENST00000505624.1	+	7	834	c.731T>A	c.(730-732)aTt>aAt	p.I244N	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	244								p.I244N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GGCGATGTTATTGCTGCCAAG	0.498																																						dbGAP											1	Substitution - Missense(1)	breast(1)											58.0	57.0	57.0					5																	34867065		1957	4157	6114	-	-	-	SO:0001583	missense	0				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.731T>A	5.37:g.34867065T>A	ENSP00000422188:p.Ile244Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	NULL	p.I244N	ENST00000505624.1	37	c.731	CCDS54840.1	5	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317549	0.40996	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.13196	2.61	5.08	3.93	0.45458	Tetratricopeptide-like helical (1);	0.322273	0.30658	N	0.009155	T	0.31606	0.0802	M	0.71581	2.175	0.19300	N	0.999975	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.974;0.998;0.999	T	0.09185	-1.0686	10	0.27082	T	0.32	-1.7733	9.8862	0.41264	0.0:0.0812:0.0:0.9188	.	244;175;244	Q6PF05-2;B4DEX1;Q6PF05	.;.;TT23L_HUMAN	N	244	ENSP00000422188:I244N	ENSP00000425242:I244N	I	+	2	0	TTC23L	34902822	0.329000	0.24696	0.043000	0.18650	0.602000	0.36980	1.932000	0.40143	0.965000	0.38133	-0.250000	0.11733	ATT	TTC23L	-	NULL	ENSG00000205838		0.498	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	HGNC	protein_coding	OTTHUMT00000366819.1	187	0.00	0	T	NM_144725		34867065	34867065	+1	no_errors	ENST00000505624	ensembl	human	known	69_37n	missense	115	31.14	52	SNP	0.148	A
URI1	8725	genome.wustl.edu	37	19	30500053	30500053	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr19:30500053A>T	ENST00000542441.2	+	8	1125	c.828A>T	c.(826-828)gaA>gaT	p.E276D	URI1_ENST00000312051.6_Missense_Mutation_p.E236D|URI1_ENST00000392271.1_Missense_Mutation_p.E200D|URI1_ENST00000360605.4_Missense_Mutation_p.E258D			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	276					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.E276D(1)									CAAGTTCAGAACCATTCAGTG	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											142.0	112.0	122.0					19																	30500053		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.828A>T	19.37:g.30500053A>T	ENSP00000442436:p.Glu276Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	pfam_Prefoldin_subunit,superfamily_Prefoldin	p.E276D	ENST00000542441.2	37	c.828	CCDS12420.1	19	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135297	0.37728	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T;T;T	0.05925	3.37;3.37;3.37	5.72	3.57	0.40892	.	0.447334	0.27797	N	0.017814	T	0.04272	0.0118	N	0.25647	0.755	0.21740	N	0.999563	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.002	T	0.44375	-0.9332	10	0.12430	T	0.62	-5.8147	8.4307	0.32755	0.6732:0.2583:0.0685:0.0	.	236;276;274	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	D	274;200;276;236	ENSP00000376097:E200D;ENSP00000442436:E276D;ENSP00000312530:E236D	ENSP00000312530:E236D	E	+	3	2	C19orf2	35191893	0.071000	0.21146	0.363000	0.25875	0.248000	0.25809	0.724000	0.25954	0.964000	0.38108	0.260000	0.18958	GAA	URI1	-	NULL	ENSG00000105176		0.413	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URI1	HGNC	protein_coding	OTTHUMT00000439756.1	201	0.00	0	A	NM_134447		30500053	30500053	+1	no_errors	ENST00000542441	ensembl	human	known	69_37n	missense	124	23.31	38	SNP	0.896	T
ZNF106	64397	genome.wustl.edu	37	15	42743536	42743536	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr15:42743536C>T	ENST00000263805.4	-	2	1191	c.865G>A	c.(865-867)Ggt>Agt	p.G289S	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	289					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G289S(1)									GCAACTGTACCAAGTTTGTCA	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											150.0	139.0	143.0					15																	42743536		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.865G>A	15.37:g.42743536C>T	ENSP00000263805:p.Gly289Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G289S	ENST00000263805.4	37	c.865	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315802	0.23908	.	.	ENSG00000103994	ENST00000263805	T	0.57436	0.4	4.86	1.89	0.25635	.	0.168657	0.40908	D	0.000993	T	0.37376	0.1001	L	0.36672	1.1	0.09310	N	1	B;B	0.16802	0.019;0.006	B;B	0.14023	0.01;0.008	T	0.19877	-1.0292	10	0.33141	T	0.24	-15.886	7.9032	0.29746	0.0:0.6591:0.0:0.3409	.	72;289	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	S	289	ENSP00000263805:G289S	ENSP00000263805:G289S	G	-	1	0	ZFP106	40530828	0.200000	0.23398	0.657000	0.29651	0.858000	0.48976	0.346000	0.19997	0.642000	0.30620	0.651000	0.88453	GGT	ZFP106	-	NULL	ENSG00000103994		0.383	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	302	0.00	0	C	NM_022473		42743536	42743536	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	missense	366	12.86	54	SNP	0.001	T
ZNF200	7752	genome.wustl.edu	37	16	3274067	3274067	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03R-01A-21W-A050-09	TCGA-AO-A03R-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56	26a53735-9790-4d97-88e9-1c2bf24eb6cb	g.chr16:3274067C>T	ENST00000431561.3	-	5	1625	c.1013G>A	c.(1012-1014)tGt>tAt	p.C338Y	ZNF200_ENST00000396868.3_Missense_Mutation_p.C337Y|ZNF200_ENST00000575948.1_Missense_Mutation_p.C337Y|ZNF200_ENST00000396871.4_Missense_Mutation_p.C337Y|ZNF200_ENST00000414144.2_Missense_Mutation_p.C338Y|ZNF200_ENST00000396870.4_Missense_Mutation_p.C337Y|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ACATTCTGGACACTTAAATAT	0.423																																						dbGAP											0													154.0	162.0	159.0					16																	3274067		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.1013G>A	16.37:g.3274067C>T	ENSP00000395723:p.Cys338Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C338Y	ENST00000431561.3	37	c.1013	CCDS10497.1	16	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770429	0.69992	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	D;D;D	0.85088	-1.94;-1.94;-1.94	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000323	D	0.93884	0.8043	M	0.91717	3.235	0.45439	D	0.99841	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94774	0.7947	10	0.87932	D	0	-25.878	16.4994	0.84253	0.0:1.0:0.0:0.0	.	337;338;337	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	Y	338;337;337;337;338	ENSP00000380077:C337Y;ENSP00000380080:C337Y;ENSP00000395723:C338Y	ENSP00000380077:C337Y	C	-	2	0	ZNF200	3214068	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.816000	0.69222	2.759000	0.94783	0.557000	0.71058	TGT	ZNF200	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000010539		0.423	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF200	HGNC	protein_coding	OTTHUMT00000437545.1	80	0.00	0	C			3274067	3274067	-1	no_errors	ENST00000414144	ensembl	human	known	69_37n	missense	56	33.33	28	SNP	1.000	T
