#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_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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABLIM1	3983	genome.wustl.edu	37	10	116203811	116203811	+	Missense_Mutation	SNP	C	C	T	rs138272125	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:116203811C>T	ENST00000277895.5	-	17	2007	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	ABLIM1_ENST00000533213.2_Missense_Mutation_p.R577H|ABLIM1_ENST00000392952.3_Missense_Mutation_p.R314H|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R314H|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R577H|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R260H	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	637			R -> G (in dbSNP:rs7091419).		axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGAATCGTAGCGACTGGCTAA	0.502																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	186.0	184.0	184.0		1730,1814,1910,941	5.8	1.0	10	dbSNP_134	184	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5,NM_006720.3	29,29,29,29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging	577/719,605/747,637/779,314/456	116203811	4,13002	2203	4300	6503	SO:0001583	missense	3983			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1910G>A	10.37:g.116203811C>T	ENSP00000277895:p.Arg637His		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.R705H	ENST00000277895.5	37	c.2114	CCDS7590.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.982584|4.982584	0.93044|0.93044	2.27E-4|2.27E-4	3.49E-4|3.49E-4	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	.|T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58836|0.58836	0.2150|0.2150	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;B;D	.|0.89917	.|0.992;1.0;0.999;0.999;0.996;1.0;1.0;0.144;1.0	.|P;D;D;D;P;D;D;B;D	.|0.91635	.|0.66;0.929;0.946;0.932;0.731;0.984;0.972;0.017;0.999	T|T	0.57318|0.57318	-0.7832|-0.7832	5|10	.|0.46703	.|T	.|0.11	.|.	18.2155|18.2155	0.89884|0.89884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|514;239;577;605;637;314;607;561;260	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	T|H	511|637;577;314;260;605;577;705;561;314;561;514;705;389	.|ENSP00000358256:R577H;ENSP00000376679:R314H;ENSP00000433629:R577H;ENSP00000358270:R314H	.|ENSP00000277895:R705H	A|R	-|-	1|2	0|0	ABLIM1|ABLIM1	116193801|116193801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	6.282000|6.282000	0.72639|0.72639	2.735000|2.735000	0.93741|0.93741	0.591000|0.591000	0.81541|0.81541	GCT|CGC	ABLIM1	-	NULL		0.502	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABLIM1	HGNC	protein_coding	OTTHUMT00000050469.3	C			116203811	-1	no_errors	ENST00000277895	ensembl	human	known	70_37	missense	SNP	1.000	T
ABLIM1	3983	genome.wustl.edu	37	10	116203811	116203811	+	Missense_Mutation	SNP	C	C	T	rs138272125	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:116203811C>T	ENST00000277895.5	-	17	2007	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	ABLIM1_ENST00000533213.2_Missense_Mutation_p.R577H|ABLIM1_ENST00000392952.3_Missense_Mutation_p.R314H|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R314H|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R577H|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R260H	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	637			R -> G (in dbSNP:rs7091419).		axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGAATCGTAGCGACTGGCTAA	0.502																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	186.0	184.0	184.0		1730,1814,1910,941	5.8	1.0	10	dbSNP_134	184	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5,NM_006720.3	29,29,29,29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging	577/719,605/747,637/779,314/456	116203811	4,13002	2203	4300	6503	SO:0001583	missense	3983			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1910G>A	10.37:g.116203811C>T	ENSP00000277895:p.Arg637His		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.R705H	ENST00000277895.5	37	c.2114	CCDS7590.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.982584|4.982584	0.93044|0.93044	2.27E-4|2.27E-4	3.49E-4|3.49E-4	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	.|T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58836|0.58836	0.2150|0.2150	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;B;D	.|0.89917	.|0.992;1.0;0.999;0.999;0.996;1.0;1.0;0.144;1.0	.|P;D;D;D;P;D;D;B;D	.|0.91635	.|0.66;0.929;0.946;0.932;0.731;0.984;0.972;0.017;0.999	T|T	0.57318|0.57318	-0.7832|-0.7832	5|10	.|0.46703	.|T	.|0.11	.|.	18.2155|18.2155	0.89884|0.89884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|514;239;577;605;637;314;607;561;260	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	T|H	511|637;577;314;260;605;577;705;561;314;561;514;705;389	.|ENSP00000358256:R577H;ENSP00000376679:R314H;ENSP00000433629:R577H;ENSP00000358270:R314H	.|ENSP00000277895:R705H	A|R	-|-	1|2	0|0	ABLIM1|ABLIM1	116193801|116193801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	6.282000|6.282000	0.72639|0.72639	2.735000|2.735000	0.93741|0.93741	0.591000|0.591000	0.81541|0.81541	GCT|CGC	ABLIM1	-	NULL		0.502	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABLIM1	HGNC	protein_coding	OTTHUMT00000050469.3	C			116203811	-1	no_errors	ENST00000277895	ensembl	human	known	70_37	missense	SNP	1.000	T
ACAD9	28976	genome.wustl.edu	37	3	128598506	128598506	+	5'UTR	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:128598506G>C	ENST00000308982.7	+	0	53					NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9							dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGGGAGACTGAGGCTGAGGC	0.667																																																	0													77.0	95.0	89.0					3																	128598506		2195	4291	6486	SO:0001623	5_prime_UTR_variant	28976			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.-29G>C	3.37:g.128598506G>C			D3DNB8|Q8WXX3	RNA	SNP	-	NULL	ENST00000308982.7	37	NULL	CCDS3053.1	3																																																																																			ACAD9	-	-		0.667	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	G	NM_014049		128598506	+1	no_errors	ENST00000505602	ensembl	human	known	70_37	rna	SNP	0.004	C
ACAD9	28976	genome.wustl.edu	37	3	128598506	128598506	+	5'UTR	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:128598506G>C	ENST00000308982.7	+	0	53					NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9							dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGGGAGACTGAGGCTGAGGC	0.667																																																	0													77.0	95.0	89.0					3																	128598506		2195	4291	6486	SO:0001623	5_prime_UTR_variant	28976			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.-29G>C	3.37:g.128598506G>C			D3DNB8|Q8WXX3	RNA	SNP	-	NULL	ENST00000308982.7	37	NULL	CCDS3053.1	3																																																																																			ACAD9	-	-		0.667	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	G	NM_014049		128598506	+1	no_errors	ENST00000505602	ensembl	human	known	70_37	rna	SNP	0.004	C
ACP5	54	genome.wustl.edu	37	19	11685947	11685947	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:11685947C>T	ENST00000592828.1	-	7	1258	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.E286K|ACP5_ENST00000433365.2_Missense_Mutation_p.E286K|ACP5_ENST00000590420.1_Silent_p.L43L|ACP5_ENST00000412435.2_Missense_Mutation_p.E286K	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	286					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AGTGAGTCTTCAGTCCCATAG	0.567																																																	0													99.0	86.0	91.0					19																	11685947		2203	4300	6503	SO:0001583	missense	54			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.856G>A	19.37:g.11685947C>T	ENSP00000468767:p.Glu286Lys		A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.E286K	ENST00000592828.1	37	c.856	CCDS12265.1	19	.	.	.	.	.	.	.	.	.	.	C	1.164	-0.643060	0.03531	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.70045	-0.45;-0.45;-0.45	4.82	2.57	0.30868	.	0.593369	0.17259	N	0.180857	T	0.48909	0.1526	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.26643	-1.0097	10	0.07990	T	0.79	-5.1212	5.2619	0.15578	0.0:0.4722:0.313:0.2147	.	286	P13686	PPA5_HUMAN	K	286	ENSP00000218758:E286K;ENSP00000392374:E286K;ENSP00000413456:E286K	ENSP00000218758:E286K	E	-	1	0	ACP5	11546947	0.080000	0.21391	0.036000	0.18154	0.581000	0.36288	1.309000	0.33539	1.027000	0.39758	0.550000	0.68814	GAA	ACP5	-	NULL		0.567	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACP5	HGNC	protein_coding	OTTHUMT00000458881.1	C			11685947	-1	no_errors	ENST00000218758	ensembl	human	known	70_37	missense	SNP	0.004	T
ACP5	54	genome.wustl.edu	37	19	11685947	11685947	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:11685947C>T	ENST00000592828.1	-	7	1258	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.E286K|ACP5_ENST00000433365.2_Missense_Mutation_p.E286K|ACP5_ENST00000590420.1_Silent_p.L43L|ACP5_ENST00000412435.2_Missense_Mutation_p.E286K	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	286					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AGTGAGTCTTCAGTCCCATAG	0.567																																																	0													99.0	86.0	91.0					19																	11685947		2203	4300	6503	SO:0001583	missense	54			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.856G>A	19.37:g.11685947C>T	ENSP00000468767:p.Glu286Lys		A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.E286K	ENST00000592828.1	37	c.856	CCDS12265.1	19	.	.	.	.	.	.	.	.	.	.	C	1.164	-0.643060	0.03531	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.70045	-0.45;-0.45;-0.45	4.82	2.57	0.30868	.	0.593369	0.17259	N	0.180857	T	0.48909	0.1526	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.26643	-1.0097	10	0.07990	T	0.79	-5.1212	5.2619	0.15578	0.0:0.4722:0.313:0.2147	.	286	P13686	PPA5_HUMAN	K	286	ENSP00000218758:E286K;ENSP00000392374:E286K;ENSP00000413456:E286K	ENSP00000218758:E286K	E	-	1	0	ACP5	11546947	0.080000	0.21391	0.036000	0.18154	0.581000	0.36288	1.309000	0.33539	1.027000	0.39758	0.550000	0.68814	GAA	ACP5	-	NULL		0.567	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACP5	HGNC	protein_coding	OTTHUMT00000458881.1	C			11685947	-1	no_errors	ENST00000218758	ensembl	human	known	70_37	missense	SNP	0.004	T
ACR	49	genome.wustl.edu	37	22	51183025	51183025	+	Intron	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr22:51183025C>G	ENST00000216139.5	+	5	751				AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin						acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGACCCCTCTGGGCAGGGG	0.562																																																	0																																										SO:0001627	intron_variant	49			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.712-56C>G	22.37:g.51183025C>G			Q6ICK2	RNA	SNP	-	NULL	ENST00000216139.5	37	NULL	CCDS14101.1	22																																																																																			ACR	-	-		0.562	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2	C	NM_001097		51183025	+1	no_errors	ENST00000527761	ensembl	human	known	70_37	rna	SNP	0.000	G
ACTN1	87	genome.wustl.edu	37	14	69349243	69349243	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr14:69349243C>A	ENST00000193403.6	-	16	2268	c.1885G>T	c.(1885-1887)Gag>Tag	p.E629*	ACTN1_ENST00000394419.4_Nonsense_Mutation_p.E629*|ACTN1_ENST00000538545.2_Nonsense_Mutation_p.E629*|ACTN1_ENST00000376839.3_Nonsense_Mutation_p.E564*|ACTN1_ENST00000438964.2_Nonsense_Mutation_p.E629*	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	629	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGTAGCCTCTCATTGTGCTGC	0.622																																																	0													81.0	54.0	63.0					14																	69349243		2203	4300	6503	SO:0001587	stop_gained	87			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1885G>T	14.37:g.69349243C>A	ENSP00000193403:p.Glu629*		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.E629*	ENST00000193403.6	37	c.1885	CCDS9792.1	14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	6.145895|6.145895|6.145895	0.97324|0.97324|0.97324	.|.|.	.|.|.	ENSG00000072110|ENSG00000072110|ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545|ENST00000555075|ENST00000553290	.|.|.	.|.|.	.|.|.	5.5|5.5|5.5	4.61|4.61|4.61	0.57282|0.57282|0.57282	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|.	.|0.71685|.	.|0.3369|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.74942|.	.|-0.3492|.	.|3|.	0.52906|.|.	T|.|.	0.07|.|.	.|.|.	16.5229|16.5229|16.5229	0.84322|0.84322|0.84322	0.0:0.8693:0.1307:0.0|0.0:0.8693:0.1307:0.0|0.0:0.8693:0.1307:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|L	629;629;629;564;629|14|68	.|.|.	ENSP00000193403:E629X|.|.	E|M|X	-|-|-	1|3|2	0|0|2	ACTN1|ACTN1|ACTN1	68418996|68418996|68418996	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.924000|0.924000|0.924000	0.36721|0.36721|0.36721	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	7.651000|7.651000|7.651000	0.83577|0.83577|0.83577	1.546000|1.546000|1.546000	0.49388|0.49388|0.49388	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|ATG|TGA	ACTN1	-	NULL		0.622	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	C	NM_001102		69349243	-1	no_errors	ENST00000394419	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ACTN1	87	genome.wustl.edu	37	14	69349243	69349243	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr14:69349243C>A	ENST00000193403.6	-	16	2268	c.1885G>T	c.(1885-1887)Gag>Tag	p.E629*	ACTN1_ENST00000394419.4_Nonsense_Mutation_p.E629*|ACTN1_ENST00000538545.2_Nonsense_Mutation_p.E629*|ACTN1_ENST00000376839.3_Nonsense_Mutation_p.E564*|ACTN1_ENST00000438964.2_Nonsense_Mutation_p.E629*	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	629	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGTAGCCTCTCATTGTGCTGC	0.622																																																	0													81.0	54.0	63.0					14																	69349243		2203	4300	6503	SO:0001587	stop_gained	87			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1885G>T	14.37:g.69349243C>A	ENSP00000193403:p.Glu629*		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.E629*	ENST00000193403.6	37	c.1885	CCDS9792.1	14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	6.145895|6.145895|6.145895	0.97324|0.97324|0.97324	.|.|.	.|.|.	ENSG00000072110|ENSG00000072110|ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545|ENST00000555075|ENST00000553290	.|.|.	.|.|.	.|.|.	5.5|5.5|5.5	4.61|4.61|4.61	0.57282|0.57282|0.57282	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|.	.|0.71685|.	.|0.3369|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.74942|.	.|-0.3492|.	.|3|.	0.52906|.|.	T|.|.	0.07|.|.	.|.|.	16.5229|16.5229|16.5229	0.84322|0.84322|0.84322	0.0:0.8693:0.1307:0.0|0.0:0.8693:0.1307:0.0|0.0:0.8693:0.1307:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|L	629;629;629;564;629|14|68	.|.|.	ENSP00000193403:E629X|.|.	E|M|X	-|-|-	1|3|2	0|0|2	ACTN1|ACTN1|ACTN1	68418996|68418996|68418996	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.924000|0.924000|0.924000	0.36721|0.36721|0.36721	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	7.651000|7.651000|7.651000	0.83577|0.83577|0.83577	1.546000|1.546000|1.546000	0.49388|0.49388|0.49388	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|ATG|TGA	ACTN1	-	NULL		0.622	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	C	NM_001102		69349243	-1	no_errors	ENST00000394419	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ACTN1	87	genome.wustl.edu	37	14	69349983	69349983	+	Intron	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr14:69349983C>G	ENST00000193403.6	-	15	2019				ACTN1_ENST00000394419.4_Intron|ACTN1_ENST00000538545.2_Intron|ACTN1_ENST00000376839.3_Intron|ACTN1_ENST00000438964.2_Intron	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1						actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TAGGGCTGGTCAAATTAGCAG	0.527																																																	0																																										SO:0001627	intron_variant	87			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1636-211G>C	14.37:g.69349983C>G			B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	RNA	SNP	-	NULL	ENST00000193403.6	37	NULL	CCDS9792.1	14																																																																																			ACTN1	-	-		0.527	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	C	NM_001102		69349983	-1	no_errors	ENST00000556343	ensembl	human	putative	70_37	rna	SNP	0.018	G
ACTN1	87	genome.wustl.edu	37	14	69350053	69350053	+	Intron	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr14:69350053C>T	ENST00000193403.6	-	15	2019				ACTN1_ENST00000394419.4_Intron|ACTN1_ENST00000538545.2_Intron|ACTN1_ENST00000376839.3_Intron|ACTN1_ENST00000438964.2_Intron	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1						actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCCAGAGGCTCACTACCCAGG	0.498																																																	0																																										SO:0001627	intron_variant	87			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1636-281G>A	14.37:g.69350053C>T			B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	RNA	SNP	-	NULL	ENST00000193403.6	37	NULL	CCDS9792.1	14																																																																																			ACTN1	-	-		0.498	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	C	NM_001102		69350053	-1	no_errors	ENST00000556343	ensembl	human	putative	70_37	rna	SNP	0.000	T
ADRA1A	148	genome.wustl.edu	37	8	26721793	26721793	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:26721793C>A	ENST00000519229.1	-	1	700	c.694G>T	c.(694-696)Gtg>Ttg	p.V232L	ADRA1A_ENST00000380581.2_Missense_Mutation_p.V232L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V232L|ADRA1A_ENST00000380587.1_Missense_Mutation_p.V232L|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V232L|ADRA1A_ENST00000358857.5_Missense_Mutation_p.V232L|ADRA1A_ENST00000380572.3_Missense_Mutation_p.V232L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V232L|ADRA1A_ENST00000380573.3_Missense_Mutation_p.V232L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V232L			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	302					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CGGAGCGTCACTTGCTCCGAG	0.617																																																	0													50.0	46.0	47.0					8																	26721793		2203	4300	6503	SO:0001583	missense	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.694G>T	8.37:g.26721793C>A	ENSP00000430793:p.Val232Leu		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.V232L	ENST00000519229.1	37	c.694		8	.	.	.	.	.	.	.	.	.	.	C	9.295	1.051632	0.19827	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.61274	0.14;0.7;0.17;0.63;0.14;0.12;0.12;0.12;0.69;0.65	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	N	0.13043	0.29	0.51767	D	0.99993	B;B;B;P;P;P	0.46512	0.077;0.077;0.181;0.46;0.879;0.516	B;B;B;B;B;B	0.41571	0.075;0.075;0.163;0.174;0.36;0.267	T	0.33650	-0.9860	10	0.22706	T	0.39	.	19.053	0.93053	0.0:1.0:0.0:0.0	.	232;232;232;232;232;232	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	L	232	ENSP00000369960:V232L;ENSP00000369961:V232L;ENSP00000369956:V232L;ENSP00000369955:V232L;ENSP00000430793:V232L;ENSP00000346557:V232L;ENSP00000276393:V232L;ENSP00000369947:V232L;ENSP00000369946:V232L;ENSP00000351725:V232L	ENSP00000276393:V232L	V	-	1	0	ADRA1A	26777710	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.554000	0.53720	2.649000	0.89929	0.563000	0.77884	GTG	ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs		0.617	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1	C	NM_033303		26721793	-1	no_errors	ENST00000380586	ensembl	human	known	70_37	missense	SNP	1.000	A
ADRA1A	148	genome.wustl.edu	37	8	26721793	26721793	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:26721793C>A	ENST00000519229.1	-	1	700	c.694G>T	c.(694-696)Gtg>Ttg	p.V232L	ADRA1A_ENST00000380581.2_Missense_Mutation_p.V232L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V232L|ADRA1A_ENST00000380587.1_Missense_Mutation_p.V232L|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V232L|ADRA1A_ENST00000358857.5_Missense_Mutation_p.V232L|ADRA1A_ENST00000380572.3_Missense_Mutation_p.V232L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V232L|ADRA1A_ENST00000380573.3_Missense_Mutation_p.V232L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V232L			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	302					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CGGAGCGTCACTTGCTCCGAG	0.617																																																	0													50.0	46.0	47.0					8																	26721793		2203	4300	6503	SO:0001583	missense	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.694G>T	8.37:g.26721793C>A	ENSP00000430793:p.Val232Leu		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.V232L	ENST00000519229.1	37	c.694		8	.	.	.	.	.	.	.	.	.	.	C	9.295	1.051632	0.19827	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.61274	0.14;0.7;0.17;0.63;0.14;0.12;0.12;0.12;0.69;0.65	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	N	0.13043	0.29	0.51767	D	0.99993	B;B;B;P;P;P	0.46512	0.077;0.077;0.181;0.46;0.879;0.516	B;B;B;B;B;B	0.41571	0.075;0.075;0.163;0.174;0.36;0.267	T	0.33650	-0.9860	10	0.22706	T	0.39	.	19.053	0.93053	0.0:1.0:0.0:0.0	.	232;232;232;232;232;232	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	L	232	ENSP00000369960:V232L;ENSP00000369961:V232L;ENSP00000369956:V232L;ENSP00000369955:V232L;ENSP00000430793:V232L;ENSP00000346557:V232L;ENSP00000276393:V232L;ENSP00000369947:V232L;ENSP00000369946:V232L;ENSP00000351725:V232L	ENSP00000276393:V232L	V	-	1	0	ADRA1A	26777710	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.554000	0.53720	2.649000	0.89929	0.563000	0.77884	GTG	ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs		0.617	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1	C	NM_033303		26721793	-1	no_errors	ENST00000380586	ensembl	human	known	70_37	missense	SNP	1.000	A
AGBL4	84871	genome.wustl.edu	37	1	49840018	49840019	+	Intron	INS	-	-	A	rs371860822		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:49840018_49840019insA	ENST00000371839.1	-	4	399				AGBL4_ENST00000371836.1_Intron|AGBL4-IT1_ENST00000457061.1_RNA|AGBL4_ENST00000371838.1_Intron	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4						C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TTCAGAATCCTAAAAAAAAAAA	0.386																																																	0																																										SO:0001627	intron_variant	100874313			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.283-128482->T	1.37:g.49840029_49840029dupA			B3KT26|B4DG37	Splice_Site	INS	-	NULL	ENST00000371839.1	37	c.NULL	CCDS44137.1	1																																																																																			AGBL4-IT1	-	-		0.386	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4-IT1	HGNC	protein_coding	OTTHUMT00000021346.4	-	NM_032785		49840019	-1	no_errors	ENST00000457061	ensembl	human	known	70_37	splice_site_ins	INS	0.000:0.005	A
AHDC1	27245	genome.wustl.edu	37	1	27860955	27860955	+	3'UTR	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:27860955C>T	ENST00000247087.5	-	0	5924				AHDC1_ENST00000374011.2_3'UTR			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1								DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCCACCATGCGAATTTGCAC	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.*516G>A	1.37:g.27860955C>T			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	RNA	SNP	-	NULL	ENST00000247087.5	37	NULL	CCDS30652.1	1																																																																																			AHDC1	-	-		0.378	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	C			27860955	-1	no_errors	ENST00000482400	ensembl	human	known	70_37	rna	SNP	1.000	T
ANK3	288	genome.wustl.edu	37	10	61847994	61847994	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:61847994C>T	ENST00000280772.2	-	29	3642	c.3451G>A	c.(3451-3453)Ggt>Agt	p.G1151S	ANK3_ENST00000355288.2_Missense_Mutation_p.G285S|ANK3_ENST00000373827.2_Missense_Mutation_p.G1145S|ANK3_ENST00000503366.1_Missense_Mutation_p.G1152S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1151	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAATTCCACCTTCAGGACCA	0.483																																																	0													134.0	134.0	134.0					10																	61847994		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3451G>A	10.37:g.61847994C>T	ENSP00000280772:p.Gly1151Ser		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G1151S	ENST00000280772.2	37	c.3451	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.867939	0.97043	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	6.17	6.17	0.99709	.	0.000000	0.42964	D	0.000624	T	0.67552	0.2905	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.999;0.999;1.0;0.998;0.997;0.998	T	0.72507	-0.4272	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1152;285;684;1145;1151;386;285	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	S	1151;1145;285;285;1152;1131;386;786;786;284;684	ENSP00000280772:G1151S;ENSP00000362933:G1145S;ENSP00000347436:G285S;ENSP00000425236:G1152S	ENSP00000280772:G1151S	G	-	1	0	ANK3	61518000	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.466000	0.80914	2.941000	0.99782	0.655000	0.94253	GGT	ANK3	-	NULL		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61847994	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T
ANK3	288	genome.wustl.edu	37	10	61847994	61847994	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:61847994C>T	ENST00000280772.2	-	29	3642	c.3451G>A	c.(3451-3453)Ggt>Agt	p.G1151S	ANK3_ENST00000355288.2_Missense_Mutation_p.G285S|ANK3_ENST00000373827.2_Missense_Mutation_p.G1145S|ANK3_ENST00000503366.1_Missense_Mutation_p.G1152S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1151	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAATTCCACCTTCAGGACCA	0.483																																																	0													134.0	134.0	134.0					10																	61847994		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3451G>A	10.37:g.61847994C>T	ENSP00000280772:p.Gly1151Ser		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G1151S	ENST00000280772.2	37	c.3451	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.867939	0.97043	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	6.17	6.17	0.99709	.	0.000000	0.42964	D	0.000624	T	0.67552	0.2905	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.999;0.999;1.0;0.998;0.997;0.998	T	0.72507	-0.4272	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1152;285;684;1145;1151;386;285	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	S	1151;1145;285;285;1152;1131;386;786;786;284;684	ENSP00000280772:G1151S;ENSP00000362933:G1145S;ENSP00000347436:G285S;ENSP00000425236:G1152S	ENSP00000280772:G1151S	G	-	1	0	ANK3	61518000	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.466000	0.80914	2.941000	0.99782	0.655000	0.94253	GGT	ANK3	-	NULL		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61847994	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T
AOC4P	90586	genome.wustl.edu	37	17	41021216	41021216	+	RNA	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:41021216C>G	ENST00000585538.1	+	0	2055					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		ccactgcactccatcctgcgt	0.408																																																	0																																												90586					17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41021216C>G				RNA	SNP	-	NULL	ENST00000585538.1	37	NULL		17																																																																																			AOC4	-	-		0.408	AOC4P-006	KNOWN	basic	processed_transcript	AOC4	Clone_based_vega_gene	pseudogene	OTTHUMT00000452449.1	C			41021216	+1	no_errors	ENST00000562301	ensembl	human	known	70_37	rna	SNP	0.000	G
ARID3A	1820	genome.wustl.edu	37	19	929434	929434	+	5'UTR	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:929434G>A	ENST00000263620.3	+	0	233				AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)							cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		cagtgcggccgggccccctcc	0.801																																					Pancreas(29;54 1022 32760 50921)												0																																										SO:0001623	5_prime_UTR_variant	1820			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.-95G>A	19.37:g.929434G>A			Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	RNA	SNP	-	NULL	ENST00000263620.3	37	NULL	CCDS12050.1	19																																																																																			ARID3A	-	-		0.801	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	HGNC	protein_coding	OTTHUMT00000458219.1	G	NM_005224		929434	+1	no_errors	ENST00000585895	ensembl	human	known	70_37	rna	SNP	0.990	A
ATP2A1	487	genome.wustl.edu	37	16	28913228	28913228	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr16:28913228G>C	ENST00000357084.3	+	16	2412	c.2145G>C	c.(2143-2145)gaG>gaC	p.E715D	ATP2A1_ENST00000536376.1_Missense_Mutation_p.E590D|ATP2A1_ENST00000395503.4_Missense_Mutation_p.E715D	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	715					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGAAGGCTGAGATTGGCATTG	0.572																																																	0													80.0	64.0	70.0					16																	28913228		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2145G>C	16.37:g.28913228G>C	ENSP00000349595:p.Glu715Asp		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.E715D	ENST00000357084.3	37	c.2145	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347691	0.11126	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.98550	-4.99;-4.99;-4.99	5.27	-0.0935	0.13649	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.88544	0.6465	N	0.00778	-1.195	0.45439	D	0.99841	B;B;B	0.21821	0.061;0.0;0.001	B;B;B	0.27262	0.078;0.004;0.004	T	0.82323	-0.0514	10	0.02654	T	1	.	10.0278	0.42081	0.3613:0.0:0.6387:0.0	.	590;715;715	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	D	715;715;752;590	ENSP00000349595:E715D;ENSP00000378879:E715D;ENSP00000443101:E590D	ENSP00000349595:E715D	E	+	3	2	ATP2A1	28820729	1.000000	0.71417	0.929000	0.37066	0.977000	0.68977	4.072000	0.57563	0.236000	0.21180	0.561000	0.74099	GAG	ATP2A1	-	pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr		0.572	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	G	NM_004320		28913228	+1	no_errors	ENST00000357084	ensembl	human	known	70_37	missense	SNP	1.000	C
ATRX	546	genome.wustl.edu	37	X	76938875	76938875	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:76938875C>G	ENST00000373344.5	-	9	2087	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E587Q	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	625					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCACATTTCTCTAACTTGGGG	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											178.0	198.0	191.0					X																	76938875		2203	4294	6497	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1873G>C	X.37:g.76938875C>G	ENSP00000362441:p.Glu625Gln		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E625Q	ENST00000373344.5	37	c.1873	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	c	4.063	0.009389	0.07912	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93247	-3.18;-3.19	5.22	5.22	0.72569	.	0.208542	0.40469	N	0.001099	D	0.94483	0.8224	L	0.55481	1.735	0.27076	N	0.96321	D;D;D;D	0.89917	0.997;1.0;0.998;0.997	D;D;D;D	0.80764	0.986;0.988;0.994;0.986	D	0.88401	0.3015	10	0.32370	T	0.25	-7.0658	8.8716	0.35320	0.0:0.8294:0.0:0.1706	.	625;557;587;625	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Q	625;587;552	ENSP00000362441:E625Q;ENSP00000378967:E587Q	ENSP00000362441:E625Q	E	-	1	0	ATRX	76825531	1.000000	0.71417	0.981000	0.43875	0.364000	0.29643	4.097000	0.57741	2.177000	0.69029	0.509000	0.49947	GAG	ATRX	-	NULL		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76938875	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	0.305	G
ATRX	546	genome.wustl.edu	37	X	76938875	76938875	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:76938875C>G	ENST00000373344.5	-	9	2087	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E587Q	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	625					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCACATTTCTCTAACTTGGGG	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											178.0	198.0	191.0					X																	76938875		2203	4294	6497	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1873G>C	X.37:g.76938875C>G	ENSP00000362441:p.Glu625Gln		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E625Q	ENST00000373344.5	37	c.1873	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	c	4.063	0.009389	0.07912	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93247	-3.18;-3.19	5.22	5.22	0.72569	.	0.208542	0.40469	N	0.001099	D	0.94483	0.8224	L	0.55481	1.735	0.27076	N	0.96321	D;D;D;D	0.89917	0.997;1.0;0.998;0.997	D;D;D;D	0.80764	0.986;0.988;0.994;0.986	D	0.88401	0.3015	10	0.32370	T	0.25	-7.0658	8.8716	0.35320	0.0:0.8294:0.0:0.1706	.	625;557;587;625	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Q	625;587;552	ENSP00000362441:E625Q;ENSP00000378967:E587Q	ENSP00000362441:E625Q	E	-	1	0	ATRX	76825531	1.000000	0.71417	0.981000	0.43875	0.364000	0.29643	4.097000	0.57741	2.177000	0.69029	0.509000	0.49947	GAG	ATRX	-	NULL		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76938875	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	0.305	G
ATXN7L2	127002	genome.wustl.edu	37	1	110031523	110031523	+	Missense_Mutation	SNP	G	G	A	rs199993090		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:110031523G>A	ENST00000369870.3	+	7	853	c.838G>A	c.(838-840)Gtg>Atg	p.V280M		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	280	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGACTTTGACGTGCTGGTGGC	0.607																																																	0													43.0	47.0	46.0					1																	110031523		2203	4300	6503	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.838G>A	1.37:g.110031523G>A	ENSP00000358886:p.Val280Met			Missense_Mutation	SNP	pfam_SCA7_dom	p.V280M	ENST00000369870.3	37	c.838	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136899	0.77662	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.34859	1.34	5.72	5.72	0.89469	SCA7 domain (2);	0.000000	0.53938	D	0.000043	T	0.34308	0.0893	N	0.13235	0.315	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.31696	-0.9934	10	0.51188	T	0.08	-11.2342	16.7934	0.85595	0.0:0.0:1.0:0.0	.	280	Q5T6C5	AT7L2_HUMAN	M	280	ENSP00000358886:V280M	ENSP00000358886:V280M	V	+	1	0	ATXN7L2	109833046	1.000000	0.71417	0.977000	0.42913	0.881000	0.50899	6.073000	0.71245	2.698000	0.92095	0.561000	0.74099	GTG	ATXN7L2	-	pfam_SCA7_dom		0.607	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	G	NM_153340		110031523	+1	no_errors	ENST00000369870	ensembl	human	known	70_37	missense	SNP	0.997	A
ATXN7L2	127002	genome.wustl.edu	37	1	110031523	110031523	+	Missense_Mutation	SNP	G	G	A	rs199993090		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:110031523G>A	ENST00000369870.3	+	7	853	c.838G>A	c.(838-840)Gtg>Atg	p.V280M		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	280	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGACTTTGACGTGCTGGTGGC	0.607																																																	0													43.0	47.0	46.0					1																	110031523		2203	4300	6503	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.838G>A	1.37:g.110031523G>A	ENSP00000358886:p.Val280Met			Missense_Mutation	SNP	pfam_SCA7_dom	p.V280M	ENST00000369870.3	37	c.838	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136899	0.77662	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.34859	1.34	5.72	5.72	0.89469	SCA7 domain (2);	0.000000	0.53938	D	0.000043	T	0.34308	0.0893	N	0.13235	0.315	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.31696	-0.9934	10	0.51188	T	0.08	-11.2342	16.7934	0.85595	0.0:0.0:1.0:0.0	.	280	Q5T6C5	AT7L2_HUMAN	M	280	ENSP00000358886:V280M	ENSP00000358886:V280M	V	+	1	0	ATXN7L2	109833046	1.000000	0.71417	0.977000	0.42913	0.881000	0.50899	6.073000	0.71245	2.698000	0.92095	0.561000	0.74099	GTG	ATXN7L2	-	pfam_SCA7_dom		0.607	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	G	NM_153340		110031523	+1	no_errors	ENST00000369870	ensembl	human	known	70_37	missense	SNP	0.997	A
BCAT1	586	genome.wustl.edu	37	12	24987042	24987042	+	Intron	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr12:24987042G>A	ENST00000261192.7	-	9	1430				BCAT1_ENST00000539282.1_Intron|BCAT1_ENST00000544418.1_5'UTR|RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000538118.1_Intron|BCAT1_ENST00000342945.5_Intron|BCAT1_ENST00000539780.1_Intron	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic						branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	ttatagttgtgagccactgtg	0.413																																																	0																																										SO:0001627	intron_variant	586				CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.904-1245C>T	12.37:g.24987042G>A			B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	RNA	SNP	-	NULL	ENST00000261192.7	37	NULL	CCDS44845.1	12																																																																																			BCAT1	-	-		0.413	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BCAT1	HGNC	protein_coding	OTTHUMT00000402080.1	G	NM_005504		24987042	-1	no_errors	ENST00000544418	ensembl	human	known	70_37	rna	SNP	0.004	A
BCL9	607	genome.wustl.edu	37	1	147091935	147091935	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:147091935G>A	ENST00000234739.3	+	8	2714	c.1974G>A	c.(1972-1974)atG>atA	p.M658I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	658	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCATGGAGATGAACAGGATGA	0.562			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													48.0	53.0	51.0					1																	147091935		2202	4300	6502	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1974G>A	1.37:g.147091935G>A	ENSP00000234739:p.Met658Ile		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.M658I	ENST00000234739.3	37	c.1974	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.817060	0.32145	.	.	ENSG00000116128	ENST00000234739	T	0.39997	1.05	4.83	4.83	0.62350	.	0.120423	0.85682	D	0.000000	T	0.14098	0.0341	N	0.20986	0.625	0.53005	D	0.999969	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05869	-1.0859	10	0.33940	T	0.23	-2.8567	8.8927	0.35444	0.0839:0.1645:0.7516:0.0	.	658;658	Q1JQ81;O00512	.;BCL9_HUMAN	I	658	ENSP00000234739:M658I	ENSP00000234739:M658I	M	+	3	0	BCL9	145558559	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.809000	0.38922	2.513000	0.84729	0.591000	0.81541	ATG	BCL9	-	NULL		0.562	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	G	NM_004326		147091935	+1	no_errors	ENST00000234739	ensembl	human	known	70_37	missense	SNP	1.000	A
BCL9	607	genome.wustl.edu	37	1	147091935	147091935	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:147091935G>A	ENST00000234739.3	+	8	2714	c.1974G>A	c.(1972-1974)atG>atA	p.M658I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	658	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCATGGAGATGAACAGGATGA	0.562			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													48.0	53.0	51.0					1																	147091935		2202	4300	6502	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1974G>A	1.37:g.147091935G>A	ENSP00000234739:p.Met658Ile		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.M658I	ENST00000234739.3	37	c.1974	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.817060	0.32145	.	.	ENSG00000116128	ENST00000234739	T	0.39997	1.05	4.83	4.83	0.62350	.	0.120423	0.85682	D	0.000000	T	0.14098	0.0341	N	0.20986	0.625	0.53005	D	0.999969	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05869	-1.0859	10	0.33940	T	0.23	-2.8567	8.8927	0.35444	0.0839:0.1645:0.7516:0.0	.	658;658	Q1JQ81;O00512	.;BCL9_HUMAN	I	658	ENSP00000234739:M658I	ENSP00000234739:M658I	M	+	3	0	BCL9	145558559	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.809000	0.38922	2.513000	0.84729	0.591000	0.81541	ATG	BCL9	-	NULL		0.562	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	G	NM_004326		147091935	+1	no_errors	ENST00000234739	ensembl	human	known	70_37	missense	SNP	1.000	A
BCL9	607	genome.wustl.edu	37	1	147092680	147092681	+	Frame_Shift_Ins	INS	-	-	C	rs35292683		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:147092680_147092681insC	ENST00000234739.3	+	8	3459_3460	c.2719_2720insC	c.(2719-2721)tccfs	p.S907fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	907	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCATTAAGTCCCCCCCTGTT	0.619			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0																																										SO:0001589	frameshift_variant	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2726dupC	1.37:g.147092687_147092687dupC	ENSP00000234739:p.Ser907fs		Q5T489	Frame_Shift_Ins	INS	pfam_BCL9_beta-catenin-bd_dom	p.V910fs	ENST00000234739.3	37	c.2719_2720	CCDS30833.1	1																																																																																			BCL9	-	NULL		0.619	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	-	NM_004326		147092681	+1	no_errors	ENST00000234739	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C
BCL9	607	genome.wustl.edu	37	1	147092680	147092681	+	Frame_Shift_Ins	INS	-	-	C	rs35292683		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:147092680_147092681insC	ENST00000234739.3	+	8	3459_3460	c.2719_2720insC	c.(2719-2721)tccfs	p.S907fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	907	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCATTAAGTCCCCCCCTGTT	0.619			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0																																										SO:0001589	frameshift_variant	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2726dupC	1.37:g.147092687_147092687dupC	ENSP00000234739:p.Ser907fs		Q5T489	Frame_Shift_Ins	INS	pfam_BCL9_beta-catenin-bd_dom	p.V910fs	ENST00000234739.3	37	c.2719_2720	CCDS30833.1	1																																																																																			BCL9	-	NULL		0.619	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	-	NM_004326		147092681	+1	no_errors	ENST00000234739	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C
BICC1	80114	genome.wustl.edu	37	10	60566844	60566844	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:60566844C>T	ENST00000373886.3	+	17	2306	c.2302C>T	c.(2302-2304)Cca>Tca	p.P768S	BICC1_ENST00000263103.1_Missense_Mutation_p.P394S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	768					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TAAATCCATGCCAGCTGAAAC	0.433																																																	0													118.0	107.0	111.0					10																	60566844		2203	4300	6503	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2302C>T	10.37:g.60566844C>T	ENSP00000362993:p.Pro768Ser			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.P768S	ENST00000373886.3	37	c.2302	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952925	0.92660	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.75367	-0.16;-0.93	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86293	0.1675	10	0.87932	D	0	-12.6119	19.5758	0.95444	0.0:1.0:0.0:0.0	.	688;768	E7EU62;Q9H694	.;BICC1_HUMAN	S	768;394	ENSP00000362993:P768S;ENSP00000263103:P394S	ENSP00000263103:P394S	P	+	1	0	BICC1	60236850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.675000	0.84002	2.632000	0.89209	0.655000	0.94253	CCA	BICC1	-	NULL		0.433	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	C	NM_025044		60566844	+1	no_errors	ENST00000373886	ensembl	human	known	70_37	missense	SNP	1.000	T
BICC1	80114	genome.wustl.edu	37	10	60566844	60566844	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:60566844C>T	ENST00000373886.3	+	17	2306	c.2302C>T	c.(2302-2304)Cca>Tca	p.P768S	BICC1_ENST00000263103.1_Missense_Mutation_p.P394S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	768					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TAAATCCATGCCAGCTGAAAC	0.433																																																	0													118.0	107.0	111.0					10																	60566844		2203	4300	6503	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2302C>T	10.37:g.60566844C>T	ENSP00000362993:p.Pro768Ser			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.P768S	ENST00000373886.3	37	c.2302	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952925	0.92660	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.75367	-0.16;-0.93	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86293	0.1675	10	0.87932	D	0	-12.6119	19.5758	0.95444	0.0:1.0:0.0:0.0	.	688;768	E7EU62;Q9H694	.;BICC1_HUMAN	S	768;394	ENSP00000362993:P768S;ENSP00000263103:P394S	ENSP00000263103:P394S	P	+	1	0	BICC1	60236850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.675000	0.84002	2.632000	0.89209	0.655000	0.94253	CCA	BICC1	-	NULL		0.433	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	C	NM_025044		60566844	+1	no_errors	ENST00000373886	ensembl	human	known	70_37	missense	SNP	1.000	T
C11orf57	55216	genome.wustl.edu	37	11	111948979	111948979	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr11:111948979A>C	ENST00000280352.9	+	3	746	c.110A>C	c.(109-111)gAa>gCa	p.E37A	C11orf57_ENST00000420986.2_Missense_Mutation_p.E37A|C11orf57_ENST00000532163.1_Missense_Mutation_p.E8A|C11orf57_ENST00000530104.1_Missense_Mutation_p.E37A|C11orf57_ENST00000393047.3_Missense_Mutation_p.E37A	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	37										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGAGAACTGGAAAAACAGATG	0.333																																																	0													56.0	59.0	58.0					11																	111948979		2201	4297	6498	SO:0001583	missense	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.110A>C	11.37:g.111948979A>C	ENSP00000339076:p.Glu37Ala		Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	NULL	p.E37A	ENST00000280352.9	37	c.110	CCDS41715.1	11	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590571	0.86851	.	.	ENSG00000150776	ENST00000420986;ENST00000532163;ENST00000280352;ENST00000530104;ENST00000526879;ENST00000393047;ENST00000525785	.	.	.	5.54	5.54	0.83059	.	0.110880	0.64402	D	0.000008	T	0.78291	0.4260	M	0.70275	2.135	0.48236	D	0.999614	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.995	T	0.80797	-0.1222	9	0.72032	D	0.01	-3.5588	15.3327	0.74226	1.0:0.0:0.0:0.0	.	37;37;37	E9PLE3;Q6ZUT1-2;Q6ZUT1	.;.;CK057_HUMAN	A	37;8;37;37;37;37;8	.	ENSP00000339076:E37A	E	+	2	0	C11orf57	111454189	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.393000	0.79851	2.096000	0.63516	0.482000	0.46254	GAA	C11orf57	-	NULL		0.333	C11orf57-001	KNOWN	basic|CCDS	protein_coding	C11orf57	HGNC	protein_coding	OTTHUMT00000316852.1	A	NM_018195		111948979	+1	no_errors	ENST00000393047	ensembl	human	known	70_37	missense	SNP	1.000	C
C11orf57	55216	genome.wustl.edu	37	11	111948979	111948979	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr11:111948979A>C	ENST00000280352.9	+	3	746	c.110A>C	c.(109-111)gAa>gCa	p.E37A	C11orf57_ENST00000420986.2_Missense_Mutation_p.E37A|C11orf57_ENST00000532163.1_Missense_Mutation_p.E8A|C11orf57_ENST00000530104.1_Missense_Mutation_p.E37A|C11orf57_ENST00000393047.3_Missense_Mutation_p.E37A	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	37										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGAGAACTGGAAAAACAGATG	0.333																																																	0													56.0	59.0	58.0					11																	111948979		2201	4297	6498	SO:0001583	missense	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.110A>C	11.37:g.111948979A>C	ENSP00000339076:p.Glu37Ala		Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	NULL	p.E37A	ENST00000280352.9	37	c.110	CCDS41715.1	11	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590571	0.86851	.	.	ENSG00000150776	ENST00000420986;ENST00000532163;ENST00000280352;ENST00000530104;ENST00000526879;ENST00000393047;ENST00000525785	.	.	.	5.54	5.54	0.83059	.	0.110880	0.64402	D	0.000008	T	0.78291	0.4260	M	0.70275	2.135	0.48236	D	0.999614	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.995	T	0.80797	-0.1222	9	0.72032	D	0.01	-3.5588	15.3327	0.74226	1.0:0.0:0.0:0.0	.	37;37;37	E9PLE3;Q6ZUT1-2;Q6ZUT1	.;.;CK057_HUMAN	A	37;8;37;37;37;37;8	.	ENSP00000339076:E37A	E	+	2	0	C11orf57	111454189	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.393000	0.79851	2.096000	0.63516	0.482000	0.46254	GAA	C11orf57	-	NULL		0.333	C11orf57-001	KNOWN	basic|CCDS	protein_coding	C11orf57	HGNC	protein_coding	OTTHUMT00000316852.1	A	NM_018195		111948979	+1	no_errors	ENST00000393047	ensembl	human	known	70_37	missense	SNP	1.000	C
C1orf61	10485	genome.wustl.edu	37	1	156382265	156382265	+	Intron	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:156382265C>T	ENST00000368243.1	-	4	288					NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61							nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					GGGAACTAAGCCCAGTGCTGA	0.512																																																	0																																										SO:0001627	intron_variant	10485				CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.171+2180G>A	1.37:g.156382265C>T			B1ALL5|B1ALL8	RNA	SNP	-	NULL	ENST00000368243.1	37	NULL	CCDS1142.1	1																																																																																			C1orf61	-	-		0.512	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf61	HGNC	protein_coding	OTTHUMT00000075988.1	C	NM_006365		156382265	-1	no_errors	ENST00000476966	ensembl	human	known	70_37	rna	SNP	0.000	T
C2orf68	388969	genome.wustl.edu	37	2	85838418	85838418	+	Intron	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:85838418G>A	ENST00000306336.5	-	2	271				C2orf68_ENST00000409734.3_3'UTR|USP39_ENST00000459775.1_Intron|C2orf68_ENST00000478626.1_5'UTR|USP39_ENST00000450066.2_5'Flank	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68											breast(1)|central_nervous_system(1)|endometrium(1)	3						AGGTAGCAGAGAAGCTGGGGA	0.393																																																	0																																										SO:0001627	intron_variant	388969				CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.226+372C>T	2.37:g.85838418G>A			B4DT10|Q4G0J7|Q6ZVA6	RNA	SNP	-	NULL	ENST00000306336.5	37	NULL	CCDS42704.1	2																																																																																			C2orf68	-	-		0.393	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf68	HGNC	protein_coding	OTTHUMT00000329451.1	G	NM_001013649		85838418	-1	no_errors	ENST00000478626	ensembl	human	putative	70_37	rna	SNP	0.001	A
C9orf117	286207	genome.wustl.edu	37	9	130475771	130475771	+	Intron	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:130475771C>G	ENST00000373295.2	+	8	1531				PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000373289.3_5'Flank|C9orf117_ENST00000464092.1_Intron|C9orf117_ENST00000373293.5_Intron|PTRH1_ENST00000423807.1_Intron|TTC16_ENST00000393748.4_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117											breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AAGCCAGCATCTTtctttttt	0.517																																																	0																																										SO:0001627	intron_variant	286207			AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.1491+286C>G	9.37:g.130475771C>G			A5D8T9	RNA	SNP	-	NULL	ENST00000373295.2	37	NULL	CCDS43878.1	9																																																																																			C9orf117	-	-		0.517	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C9orf117	HGNC	protein_coding	OTTHUMT00000054215.2	C	NM_001012502		130475771	+1	no_errors	ENST00000496009	ensembl	human	known	70_37	rna	SNP	0.015	G
PTRH1	138428	genome.wustl.edu	37	9	130475902	130475902	+	3'UTR	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:130475902C>T	ENST00000419060.1	-	0	2578				C9orf117_ENST00000373295.2_Intron|PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000373289.3_5'Flank|C9orf117_ENST00000464092.1_Intron|C9orf117_ENST00000373293.5_Intron|PTRH1_ENST00000423807.1_3'UTR|TTC16_ENST00000393748.4_5'Flank			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						tctcctgcctcagtctcccaa	0.522																																																	0																																										SO:0001624	3_prime_UTR_variant	286207			AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 115"""	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000419060.1:c.*477G>A	9.37:g.130475902C>T				RNA	SNP	-	NULL	ENST00000419060.1	37	NULL	CCDS35147.1	9																																																																																			C9orf117	-	-		0.522	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf117	HGNC	protein_coding	OTTHUMT00000054219.4	C	NM_001002913		130475902	+1	no_errors	ENST00000496009	ensembl	human	known	70_37	rna	SNP	0.009	T
CLCA4	22802	genome.wustl.edu	37	1	87038329	87038329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:87038329C>T	ENST00000370563.3	+	9	1435	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	CLCA4_ENST00000263723.5_Nonsense_Mutation_p.Q178*|CLCA4_ENST00000496322.1_3'UTR|RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	465	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGATGAAGCTCAGAACAATGG	0.353																																																	0													100.0	104.0	103.0					1																	87038329		2183	4297	6480	SO:0001587	stop_gained	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1393C>T	1.37:g.87038329C>T	ENSP00000359594:p.Gln465*		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Nonsense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.Q465*	ENST00000370563.3	37	c.1393	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.181114	0.97352	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	.	.	.	5.89	-2.69	0.06022	.	1.292520	0.04956	N	0.461294	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.014	20.5586	0.99321	0.0854:0.1799:0.7347:0.0	.	.	.	.	X	465;178	.	ENSP00000263723:Q178X	Q	+	1	0	CLCA4	86810917	0.000000	0.05858	0.002000	0.10522	0.204000	0.24138	-1.055000	0.03493	-0.856000	0.04120	-0.234000	0.12200	CAG	CLCA4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot		0.353	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1	C	NM_012128		87038329	+1	no_errors	ENST00000370563	ensembl	human	known	70_37	nonsense	SNP	0.001	T
CLCA4	22802	genome.wustl.edu	37	1	87038329	87038329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:87038329C>T	ENST00000370563.3	+	9	1435	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	CLCA4_ENST00000263723.5_Nonsense_Mutation_p.Q178*|CLCA4_ENST00000496322.1_3'UTR|RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	465	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGATGAAGCTCAGAACAATGG	0.353																																																	0													100.0	104.0	103.0					1																	87038329		2183	4297	6480	SO:0001587	stop_gained	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1393C>T	1.37:g.87038329C>T	ENSP00000359594:p.Gln465*		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Nonsense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.Q465*	ENST00000370563.3	37	c.1393	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.181114	0.97352	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	.	.	.	5.89	-2.69	0.06022	.	1.292520	0.04956	N	0.461294	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.014	20.5586	0.99321	0.0854:0.1799:0.7347:0.0	.	.	.	.	X	465;178	.	ENSP00000263723:Q178X	Q	+	1	0	CLCA4	86810917	0.000000	0.05858	0.002000	0.10522	0.204000	0.24138	-1.055000	0.03493	-0.856000	0.04120	-0.234000	0.12200	CAG	CLCA4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot		0.353	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1	C	NM_012128		87038329	+1	no_errors	ENST00000370563	ensembl	human	known	70_37	nonsense	SNP	0.001	T
CLEC11A	6320	genome.wustl.edu	37	19	51228632	51228632	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:51228632G>C	ENST00000250340.4	+	4	1077	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	CLEC11A_ENST00000599973.1_Missense_Mutation_p.R310P	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	294	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGCACGCTCGAGAACTGCGT	0.711																																																	0													17.0	16.0	16.0					19																	51228632		2189	4276	6465	SO:0001583	missense	6320			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.880G>C	19.37:g.51228632G>C	ENSP00000250340:p.Glu294Gln		B2RAD4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E294Q	ENST00000250340.4	37	c.880	CCDS12800.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066857	0.76301	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.20200	2.09	4.59	4.59	0.56863	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000001	T	0.41305	0.1153	L	0.51422	1.61	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.20174	-1.0283	10	0.49607	T	0.09	-19.6883	16.5155	0.84299	0.0:0.0:1.0:0.0	.	294	Q9Y240	CLC11_HUMAN	Q	294;216	ENSP00000250340:E294Q	ENSP00000250340:E294Q	E	+	1	0	CLEC11A	55920444	1.000000	0.71417	0.983000	0.44433	0.131000	0.20780	8.156000	0.89645	2.259000	0.74868	0.455000	0.32223	GAG	CLEC11A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.711	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC11A	HGNC	protein_coding	OTTHUMT00000464062.1	G	NM_002975		51228632	+1	no_errors	ENST00000250340	ensembl	human	known	70_37	missense	SNP	1.000	C
CLEC11A	6320	genome.wustl.edu	37	19	51228632	51228632	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:51228632G>C	ENST00000250340.4	+	4	1077	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	CLEC11A_ENST00000599973.1_Missense_Mutation_p.R310P	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	294	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGCACGCTCGAGAACTGCGT	0.711																																																	0													17.0	16.0	16.0					19																	51228632		2189	4276	6465	SO:0001583	missense	6320			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.880G>C	19.37:g.51228632G>C	ENSP00000250340:p.Glu294Gln		B2RAD4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E294Q	ENST00000250340.4	37	c.880	CCDS12800.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066857	0.76301	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.20200	2.09	4.59	4.59	0.56863	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000001	T	0.41305	0.1153	L	0.51422	1.61	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.20174	-1.0283	10	0.49607	T	0.09	-19.6883	16.5155	0.84299	0.0:0.0:1.0:0.0	.	294	Q9Y240	CLC11_HUMAN	Q	294;216	ENSP00000250340:E294Q	ENSP00000250340:E294Q	E	+	1	0	CLEC11A	55920444	1.000000	0.71417	0.983000	0.44433	0.131000	0.20780	8.156000	0.89645	2.259000	0.74868	0.455000	0.32223	GAG	CLEC11A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.711	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC11A	HGNC	protein_coding	OTTHUMT00000464062.1	G	NM_002975		51228632	+1	no_errors	ENST00000250340	ensembl	human	known	70_37	missense	SNP	1.000	C
COL6A3	1293	genome.wustl.edu	37	2	238287552	238287552	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:238287552G>A	ENST00000295550.4	-	6	2676	c.2224C>T	c.(2224-2226)Cac>Tac	p.H742Y	COL6A3_ENST00000347401.3_Missense_Mutation_p.H541Y|COL6A3_ENST00000353578.4_Missense_Mutation_p.H536Y|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.H335Y|COL6A3_ENST00000409809.1_Missense_Mutation_p.H536Y|COL6A3_ENST00000392004.3_Missense_Mutation_p.H536Y|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	742	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCGGCACGTGTTCACGGATC	0.597																																																	0													52.0	48.0	50.0					2																	238287552		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2224C>T	2.37:g.238287552G>A	ENSP00000295550:p.His742Tyr		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.H742Y	ENST00000295550.4	37	c.2224	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252230	0.39797	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.52	3.49	0.39957	von Willebrand factor, type A (3);	0.555874	0.15957	N	0.236455	T	0.74861	0.3772	N	0.26042	0.785	0.09310	N	0.999998	B;P;D;B	0.56521	0.33;0.637;0.976;0.202	B;B;P;B	0.53689	0.317;0.428;0.732;0.14	T	0.66504	-0.5907	10	0.72032	D	0.01	.	11.6605	0.51343	0.0:0.0985:0.675:0.2264	.	335;536;536;742	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	Y	742;541;536;536;536;335	ENSP00000295550:H742Y;ENSP00000315609:H541Y;ENSP00000315873:H536Y;ENSP00000386844:H536Y;ENSP00000375861:H536Y;ENSP00000375860:H335Y	ENSP00000295550:H742Y	H	-	1	0	COL6A3	237952291	0.000000	0.05858	0.082000	0.20525	0.848000	0.48234	0.897000	0.28390	1.292000	0.44672	0.655000	0.94253	CAC	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.597	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	G	NM_004369		238287552	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	0.002	A
COL6A3	1293	genome.wustl.edu	37	2	238287552	238287552	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:238287552G>A	ENST00000295550.4	-	6	2676	c.2224C>T	c.(2224-2226)Cac>Tac	p.H742Y	COL6A3_ENST00000347401.3_Missense_Mutation_p.H541Y|COL6A3_ENST00000353578.4_Missense_Mutation_p.H536Y|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.H335Y|COL6A3_ENST00000409809.1_Missense_Mutation_p.H536Y|COL6A3_ENST00000392004.3_Missense_Mutation_p.H536Y|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	742	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCGGCACGTGTTCACGGATC	0.597																																																	0													52.0	48.0	50.0					2																	238287552		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2224C>T	2.37:g.238287552G>A	ENSP00000295550:p.His742Tyr		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.H742Y	ENST00000295550.4	37	c.2224	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252230	0.39797	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.52	3.49	0.39957	von Willebrand factor, type A (3);	0.555874	0.15957	N	0.236455	T	0.74861	0.3772	N	0.26042	0.785	0.09310	N	0.999998	B;P;D;B	0.56521	0.33;0.637;0.976;0.202	B;B;P;B	0.53689	0.317;0.428;0.732;0.14	T	0.66504	-0.5907	10	0.72032	D	0.01	.	11.6605	0.51343	0.0:0.0985:0.675:0.2264	.	335;536;536;742	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	Y	742;541;536;536;536;335	ENSP00000295550:H742Y;ENSP00000315609:H541Y;ENSP00000315873:H536Y;ENSP00000386844:H536Y;ENSP00000375861:H536Y;ENSP00000375860:H335Y	ENSP00000295550:H742Y	H	-	1	0	COL6A3	237952291	0.000000	0.05858	0.082000	0.20525	0.848000	0.48234	0.897000	0.28390	1.292000	0.44672	0.655000	0.94253	CAC	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.597	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	G	NM_004369		238287552	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	0.002	A
COQ5	84274	genome.wustl.edu	37	12	120966892	120966892	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr12:120966892G>A	ENST00000288532.6	-	1	93	c.53C>T	c.(52-54)tCg>tTg	p.S18L	COQ5_ENST00000445328.2_Missense_Mutation_p.S18L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	18					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATCGCCCGCGACCACCCACG	0.647																																																	0													27.0	31.0	30.0					12																	120966892		2202	4300	6502	SO:0001583	missense	84274			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.53C>T	12.37:g.120966892G>A	ENSP00000288532:p.Ser18Leu		B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.S18L	ENST00000288532.6	37	c.53	CCDS31912.1	12	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253668	0.59212	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	T;T;T	0.77098	-0.04;-1.07;-0.1	5.76	0.0377	0.14197	.	1.209060	0.05284	N	0.519938	T	0.61375	0.2342	L	0.27053	0.805	0.09310	N	1	B;B	0.14438	0.004;0.01	B;B	0.04013	0.001;0.001	T	0.39840	-0.9594	10	0.18276	T	0.48	.	3.784	0.08692	0.1577:0.4518:0.2672:0.1233	.	18;18	B4DP72;Q5HYK3	.;COQ5_HUMAN	L	18	ENSP00000288532:S18L;ENSP00000401798:S18L;ENSP00000449874:S18L	ENSP00000288532:S18L	S	-	2	0	COQ5	119451275	0.002000	0.14202	0.096000	0.21009	0.276000	0.26787	-0.439000	0.06897	0.331000	0.23511	0.655000	0.94253	TCG	COQ5	-	NULL		0.647	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	HGNC	protein_coding	OTTHUMT00000403767.2	G	NM_032314		120966892	-1	no_errors	ENST00000288532	ensembl	human	known	70_37	missense	SNP	0.005	A
COQ5	84274	genome.wustl.edu	37	12	120966892	120966892	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr12:120966892G>A	ENST00000288532.6	-	1	93	c.53C>T	c.(52-54)tCg>tTg	p.S18L	COQ5_ENST00000445328.2_Missense_Mutation_p.S18L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	18					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATCGCCCGCGACCACCCACG	0.647																																																	0													27.0	31.0	30.0					12																	120966892		2202	4300	6502	SO:0001583	missense	84274			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.53C>T	12.37:g.120966892G>A	ENSP00000288532:p.Ser18Leu		B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.S18L	ENST00000288532.6	37	c.53	CCDS31912.1	12	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253668	0.59212	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	T;T;T	0.77098	-0.04;-1.07;-0.1	5.76	0.0377	0.14197	.	1.209060	0.05284	N	0.519938	T	0.61375	0.2342	L	0.27053	0.805	0.09310	N	1	B;B	0.14438	0.004;0.01	B;B	0.04013	0.001;0.001	T	0.39840	-0.9594	10	0.18276	T	0.48	.	3.784	0.08692	0.1577:0.4518:0.2672:0.1233	.	18;18	B4DP72;Q5HYK3	.;COQ5_HUMAN	L	18	ENSP00000288532:S18L;ENSP00000401798:S18L;ENSP00000449874:S18L	ENSP00000288532:S18L	S	-	2	0	COQ5	119451275	0.002000	0.14202	0.096000	0.21009	0.276000	0.26787	-0.439000	0.06897	0.331000	0.23511	0.655000	0.94253	TCG	COQ5	-	NULL		0.647	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	HGNC	protein_coding	OTTHUMT00000403767.2	G	NM_032314		120966892	-1	no_errors	ENST00000288532	ensembl	human	known	70_37	missense	SNP	0.005	A
CPA6	57094	genome.wustl.edu	37	8	68658352	68658352	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:68658352C>T	ENST00000297770.4	-	1	228	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.G5R	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	5						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTGCGCTTCCCGAGACACTTC	0.542																																																	0													35.0	35.0	35.0					8																	68658352		2203	4300	6503	SO:0001583	missense	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.13G>A	8.37:g.68658352C>T	ENSP00000297770:p.Gly5Arg		Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.G5R	ENST00000297770.4	37	c.13	CCDS6200.1	8	.	.	.	.	.	.	.	.	.	.	C	8.980	0.975031	0.18736	.	.	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.47177	0.85;0.85	5.09	2.32	0.28847	.	0.474047	0.20156	N	0.098041	T	0.22898	0.0553	N	0.08118	0	0.80722	D	1	B;B	0.21452	0.056;0.003	B;B	0.17433	0.018;0.003	T	0.03619	-1.1019	10	0.35671	T	0.21	.	5.1174	0.14843	0.0:0.6451:0.1708:0.184	.	5;5	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	R	5	ENSP00000297770:G5R;ENSP00000431112:G5R	ENSP00000297770:G5R	G	-	1	0	CPA6	68820906	0.057000	0.20700	0.923000	0.36655	0.351000	0.29236	0.239000	0.18023	0.316000	0.23135	0.655000	0.94253	GGG	CPA6	-	NULL		0.542	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	HGNC	protein_coding	OTTHUMT00000379296.2	C	NM_020361		68658352	-1	no_errors	ENST00000297770	ensembl	human	known	70_37	missense	SNP	0.815	T
CPA6	57094	genome.wustl.edu	37	8	68658352	68658352	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:68658352C>T	ENST00000297770.4	-	1	228	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.G5R	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	5						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTGCGCTTCCCGAGACACTTC	0.542																																																	0													35.0	35.0	35.0					8																	68658352		2203	4300	6503	SO:0001583	missense	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.13G>A	8.37:g.68658352C>T	ENSP00000297770:p.Gly5Arg		Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.G5R	ENST00000297770.4	37	c.13	CCDS6200.1	8	.	.	.	.	.	.	.	.	.	.	C	8.980	0.975031	0.18736	.	.	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.47177	0.85;0.85	5.09	2.32	0.28847	.	0.474047	0.20156	N	0.098041	T	0.22898	0.0553	N	0.08118	0	0.80722	D	1	B;B	0.21452	0.056;0.003	B;B	0.17433	0.018;0.003	T	0.03619	-1.1019	10	0.35671	T	0.21	.	5.1174	0.14843	0.0:0.6451:0.1708:0.184	.	5;5	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	R	5	ENSP00000297770:G5R;ENSP00000431112:G5R	ENSP00000297770:G5R	G	-	1	0	CPA6	68820906	0.057000	0.20700	0.923000	0.36655	0.351000	0.29236	0.239000	0.18023	0.316000	0.23135	0.655000	0.94253	GGG	CPA6	-	NULL		0.542	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	HGNC	protein_coding	OTTHUMT00000379296.2	C	NM_020361		68658352	-1	no_errors	ENST00000297770	ensembl	human	known	70_37	missense	SNP	0.815	T
CROCCP2	84809	genome.wustl.edu	37	1	16945227	16945227	+	lincRNA	SNP	G	G	T	rs9728628	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:16945227G>T	ENST00000412962.1	-	0	2292				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CATTCTTACAGGCATTACCTT	0.373																																																	0																																												84809			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945227G>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.373	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	G	NR_026752.1		16945227	-1	no_errors	ENST00000412962	ensembl	human	known	70_37	rna	SNP	0.004	T
CXorf23	256643	genome.wustl.edu	37	X	19947987	19947987	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:19947987C>G	ENST00000379682.4	-	10	2055	c.2022G>C	c.(2020-2022)caG>caC	p.Q674H	CXorf23_ENST00000356980.3_3'UTR|CXorf23_ENST00000379687.3_Missense_Mutation_p.Q645H			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	674						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GATACTTAGCCTGAATGTACA	0.388																																																	0													156.0	151.0	152.0					X																	19947987		2203	4300	6503	SO:0001583	missense	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.2022G>C	X.37:g.19947987C>G	ENSP00000369004:p.Gln674His		A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	NULL	p.Q645H	ENST00000379682.4	37	c.1935		X	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236927	0.58886	.	.	ENSG00000173681	ENST00000379687;ENST00000379682	T;T	0.64260	-0.09;0.4	5.32	3.28	0.37604	.	.	.	.	.	T	0.65417	0.2689	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.61481	-0.7054	8	.	.	.	.	8.4817	0.33047	0.0:0.6813:0.0:0.3187	.	645;674	A2AJT9-2;A2AJT9	.;CX023_HUMAN	H	645;674	ENSP00000369009:Q645H;ENSP00000369004:Q674H	.	Q	-	3	2	CXorf23	19857908	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.387000	0.20718	1.025000	0.39708	0.544000	0.68410	CAG	CXorf23	-	NULL		0.388	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	C	NM_198279		19947987	-1	no_errors	ENST00000379687	ensembl	human	known	70_37	missense	SNP	1.000	G
CXorf23	256643	genome.wustl.edu	37	X	19947987	19947987	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:19947987C>G	ENST00000379682.4	-	10	2055	c.2022G>C	c.(2020-2022)caG>caC	p.Q674H	CXorf23_ENST00000356980.3_3'UTR|CXorf23_ENST00000379687.3_Missense_Mutation_p.Q645H			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	674						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GATACTTAGCCTGAATGTACA	0.388																																																	0													156.0	151.0	152.0					X																	19947987		2203	4300	6503	SO:0001583	missense	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.2022G>C	X.37:g.19947987C>G	ENSP00000369004:p.Gln674His		A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	NULL	p.Q645H	ENST00000379682.4	37	c.1935		X	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236927	0.58886	.	.	ENSG00000173681	ENST00000379687;ENST00000379682	T;T	0.64260	-0.09;0.4	5.32	3.28	0.37604	.	.	.	.	.	T	0.65417	0.2689	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.61481	-0.7054	8	.	.	.	.	8.4817	0.33047	0.0:0.6813:0.0:0.3187	.	645;674	A2AJT9-2;A2AJT9	.;CX023_HUMAN	H	645;674	ENSP00000369009:Q645H;ENSP00000369004:Q674H	.	Q	-	3	2	CXorf23	19857908	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.387000	0.20718	1.025000	0.39708	0.544000	0.68410	CAG	CXorf23	-	NULL		0.388	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	C	NM_198279		19947987	-1	no_errors	ENST00000379687	ensembl	human	known	70_37	missense	SNP	1.000	G
CYLC1	1538	genome.wustl.edu	37	X	83129330	83129330	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:83129330C>G	ENST00000329312.4	+	4	1651	c.1614C>G	c.(1612-1614)atC>atG	p.I538M		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	538	8 X approximate tandem repeats.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CTACAAAAATCAAAGGTTCAG	0.363																																																	0													59.0	52.0	54.0					X																	83129330		2200	4299	6499	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1614C>G	X.37:g.83129330C>G	ENSP00000331556:p.Ile538Met		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.I538M	ENST00000329312.4	37	c.1614	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	c	3.596	-0.082549	0.07141	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.49432	0.78	3.01	2.13	0.27403	.	.	.	.	.	T	0.46405	0.1391	L	0.44542	1.39	0.09310	N	1	P;D	0.54772	0.921;0.968	P;P	0.52386	0.609;0.697	T	0.23048	-1.0199	9	0.32370	T	0.25	29.8942	7.2818	0.26316	0.0:0.7315:0.2685:0.0	.	538;538	P35663;F5H4V5	CYLC1_HUMAN;.	M	538	ENSP00000331556:I538M	ENSP00000331556:I538M	I	+	3	3	CYLC1	83015986	0.000000	0.05858	0.008000	0.14137	0.022000	0.10575	-0.690000	0.05138	0.670000	0.31165	0.600000	0.82982	ATC	CYLC1	-	NULL		0.363	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	C	NM_021118		83129330	+1	no_errors	ENST00000329312	ensembl	human	known	70_37	missense	SNP	0.005	G
CYLC1	1538	genome.wustl.edu	37	X	83129330	83129330	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:83129330C>G	ENST00000329312.4	+	4	1651	c.1614C>G	c.(1612-1614)atC>atG	p.I538M		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	538	8 X approximate tandem repeats.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CTACAAAAATCAAAGGTTCAG	0.363																																																	0													59.0	52.0	54.0					X																	83129330		2200	4299	6499	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1614C>G	X.37:g.83129330C>G	ENSP00000331556:p.Ile538Met		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.I538M	ENST00000329312.4	37	c.1614	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	c	3.596	-0.082549	0.07141	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.49432	0.78	3.01	2.13	0.27403	.	.	.	.	.	T	0.46405	0.1391	L	0.44542	1.39	0.09310	N	1	P;D	0.54772	0.921;0.968	P;P	0.52386	0.609;0.697	T	0.23048	-1.0199	9	0.32370	T	0.25	29.8942	7.2818	0.26316	0.0:0.7315:0.2685:0.0	.	538;538	P35663;F5H4V5	CYLC1_HUMAN;.	M	538	ENSP00000331556:I538M	ENSP00000331556:I538M	I	+	3	3	CYLC1	83015986	0.000000	0.05858	0.008000	0.14137	0.022000	0.10575	-0.690000	0.05138	0.670000	0.31165	0.600000	0.82982	ATC	CYLC1	-	NULL		0.363	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	C	NM_021118		83129330	+1	no_errors	ENST00000329312	ensembl	human	known	70_37	missense	SNP	0.005	G
CYP2B7P	1556	genome.wustl.edu	37	19	41445032	41445032	+	RNA	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:41445032C>G	ENST00000599198.1	+	0	697					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TATATCCAGCCAGGTCCAGGA	0.512																																																	0																																												1556																															19.37:g.41445032C>G				RNA	SNP	-	NULL	ENST00000599198.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030892	0.54790	.	.	ENSG00000256612	ENST00000541697	.	.	.	3.2	3.2	0.36748	.	0.202422	0.43110	D	0.000607	T	0.71417	0.3337	.	.	.	.	.	.	D;D	0.71674	0.998;0.981	D;D	0.73708	0.981;0.957	T	0.79490	-0.1782	7	0.56958	D	0.05	.	10.0216	0.42046	0.0:1.0:0.0:0.0	.	215;215	B6A7R5;Q14097	.;.	E	215	.	ENSP00000441190:Q215E	Q	+	1	0	AC008537.4	46136872	1.000000	0.71417	0.987000	0.45799	0.037000	0.13140	3.006000	0.49529	1.784000	0.52394	0.400000	0.26472	CAG	CYP2B7P1	-	-		0.512	CYP2B7P1-006	KNOWN	basic	processed_transcript	CYP2B7P1	HGNC	pseudogene	OTTHUMT00000465180.1	C			41445032	+1	no_errors	ENST00000593298	ensembl	human	known	70_37	rna	SNP	1.000	G
CYP2B7P	1556	genome.wustl.edu	37	19	41450687	41450687	+	RNA	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:41450687C>G	ENST00000597260.1	+	0	0				CYP2B7P1_ENST00000599198.1_RNA																							CAGACGCCTTCAATCCTGACC	0.463																																																	0																																												1556																															19.37:g.41450687C>G				RNA	SNP	-	NULL	ENST00000597260.1	37	NULL		19																																																																																			CYP2B7P1	-	-		0.463	AC092071.1-001	KNOWN	basic	sense_intronic	CYP2B7P1	HGNC	sense_intronic	OTTHUMT00000463563.1	C			41450687	+1	no_errors	ENST00000599198	ensembl	human	known	70_37	rna	SNP	1.000	G
CYP2B7P	1556	genome.wustl.edu	37	19	41450687	41450687	+	RNA	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:41450687C>G	ENST00000597260.1	+	0	0				CYP2B7P1_ENST00000599198.1_RNA																							CAGACGCCTTCAATCCTGACC	0.463																																																	0																																												1556																															19.37:g.41450687C>G				RNA	SNP	-	NULL	ENST00000597260.1	37	NULL		19																																																																																			CYP2B7P1	-	-		0.463	AC092071.1-001	KNOWN	basic	sense_intronic	CYP2B7P1	HGNC	sense_intronic	OTTHUMT00000463563.1	C			41450687	+1	no_errors	ENST00000599198	ensembl	human	known	70_37	rna	SNP	1.000	G
DAPK1	1612	genome.wustl.edu	37	9	90220066	90220066	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:90220066C>T	ENST00000408954.3	+	3	595	c.260C>T	c.(259-261)aCg>aTg	p.T87M	DAPK1_ENST00000469640.2_Missense_Mutation_p.T87M|DAPK1_ENST00000358077.5_Missense_Mutation_p.T87M|DAPK1_ENST00000491893.1_Missense_Mutation_p.T87M|DAPK1_ENST00000472284.1_Missense_Mutation_p.T87M	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GAGAACAAGACGGACGTCATC	0.617									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													77.0	76.0	76.0					9																	90220066		2199	4300	6499	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.260C>T	9.37:g.90220066C>T	ENSP00000386135:p.Thr87Met		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.T87M	ENST00000408954.3	37	c.260	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055512	0.36277	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.123914	0.34676	N	0.003776	T	0.50786	0.1636	L	0.46157	1.445	0.42286	D	0.992116	D;B;D	0.61080	0.967;0.315;0.989	P;B;P	0.53401	0.557;0.124;0.725	T	0.52968	-0.8504	10	0.59425	D	0.04	.	17.55	0.87873	0.0:1.0:0.0:0.0	.	87;87;87	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	M	87	ENSP00000350785:T87M;ENSP00000417076:T87M;ENSP00000418885:T87M;ENSP00000386135:T87M;ENSP00000419026:T87M	ENSP00000350785:T87M	T	+	2	0	DAPK1	89409886	1.000000	0.71417	0.966000	0.40874	0.324000	0.28378	4.525000	0.60559	2.628000	0.89032	0.511000	0.50034	ACG	DAPK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.617	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	C	NM_004938		90220066	+1	no_errors	ENST00000469640	ensembl	human	known	70_37	missense	SNP	0.998	T
DAPK1	1612	genome.wustl.edu	37	9	90220066	90220066	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:90220066C>T	ENST00000408954.3	+	3	595	c.260C>T	c.(259-261)aCg>aTg	p.T87M	DAPK1_ENST00000469640.2_Missense_Mutation_p.T87M|DAPK1_ENST00000358077.5_Missense_Mutation_p.T87M|DAPK1_ENST00000491893.1_Missense_Mutation_p.T87M|DAPK1_ENST00000472284.1_Missense_Mutation_p.T87M	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GAGAACAAGACGGACGTCATC	0.617									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													77.0	76.0	76.0					9																	90220066		2199	4300	6499	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.260C>T	9.37:g.90220066C>T	ENSP00000386135:p.Thr87Met		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.T87M	ENST00000408954.3	37	c.260	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055512	0.36277	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.123914	0.34676	N	0.003776	T	0.50786	0.1636	L	0.46157	1.445	0.42286	D	0.992116	D;B;D	0.61080	0.967;0.315;0.989	P;B;P	0.53401	0.557;0.124;0.725	T	0.52968	-0.8504	10	0.59425	D	0.04	.	17.55	0.87873	0.0:1.0:0.0:0.0	.	87;87;87	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	M	87	ENSP00000350785:T87M;ENSP00000417076:T87M;ENSP00000418885:T87M;ENSP00000386135:T87M;ENSP00000419026:T87M	ENSP00000350785:T87M	T	+	2	0	DAPK1	89409886	1.000000	0.71417	0.966000	0.40874	0.324000	0.28378	4.525000	0.60559	2.628000	0.89032	0.511000	0.50034	ACG	DAPK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.617	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	C	NM_004938		90220066	+1	no_errors	ENST00000469640	ensembl	human	known	70_37	missense	SNP	0.998	T
DIAPH2	1730	genome.wustl.edu	37	X	96783880	96783880	+	Intron	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:96783880T>C	ENST00000324765.8	+	27	3588				DIAPH2-AS1_ENST00000579945.1_RNA|DIAPH2_ENST00000373054.4_Intron|DIAPH2-AS1_ENST00000439759.2_RNA|DIAPH2_ENST00000373061.3_Intron			O60879	DIAP2_HUMAN	diaphanous-related formin 2						actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						gagaccagcttggccaacatg	0.453																																																	0																																										SO:0001627	intron_variant	10824			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3242-70372T>C	X.37:g.96783880T>C			A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	RNA	SNP	-	NULL	ENST00000324765.8	37	NULL	CCDS14467.1	X																																																																																			DIAPH2-AS1	-	-		0.453	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2-AS1	HGNC	protein_coding	OTTHUMT00000058871.2	T	NM_006729, NM_007309		96783880	-1	no_errors	ENST00000579945	ensembl	human	known	70_37	rna	SNP	0.003	C
DNAH5	1767	genome.wustl.edu	37	5	13762864	13762864	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr5:13762864G>T	ENST00000265104.4	-	60	10352	c.10248C>A	c.(10246-10248)ttC>ttA	p.F3416L	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3416	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATAGAAAAGAAGGAAGCCA	0.478									Kartagener syndrome																																								0													68.0	68.0	68.0					5																	13762864		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10248C>A	5.37:g.13762864G>T	ENSP00000265104:p.Phe3416Leu		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F3416L	ENST00000265104.4	37	c.10248	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365121	0.61513	.	.	ENSG00000039139	ENST00000265104	T	0.79352	-1.26	5.31	0.843	0.18935	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.89392	0.6702	H	0.95645	3.7	0.58432	D	0.999999	D	0.71674	0.998	D	0.77557	0.99	D	0.88507	0.3086	10	0.87932	D	0	.	9.2235	0.37390	0.4701:0.0:0.5299:0.0	.	3416	Q8TE73	DYH5_HUMAN	L	3416	ENSP00000265104:F3416L	ENSP00000265104:F3416L	F	-	3	2	DNAH5	13815864	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	1.676000	0.37565	0.229000	0.21039	0.305000	0.20034	TTC	DNAH5	-	NULL		0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13762864	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	0.996	T
DNAH5	1767	genome.wustl.edu	37	5	13762864	13762864	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr5:13762864G>T	ENST00000265104.4	-	60	10352	c.10248C>A	c.(10246-10248)ttC>ttA	p.F3416L	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3416	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATAGAAAAGAAGGAAGCCA	0.478									Kartagener syndrome																																								0													68.0	68.0	68.0					5																	13762864		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10248C>A	5.37:g.13762864G>T	ENSP00000265104:p.Phe3416Leu		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F3416L	ENST00000265104.4	37	c.10248	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365121	0.61513	.	.	ENSG00000039139	ENST00000265104	T	0.79352	-1.26	5.31	0.843	0.18935	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.89392	0.6702	H	0.95645	3.7	0.58432	D	0.999999	D	0.71674	0.998	D	0.77557	0.99	D	0.88507	0.3086	10	0.87932	D	0	.	9.2235	0.37390	0.4701:0.0:0.5299:0.0	.	3416	Q8TE73	DYH5_HUMAN	L	3416	ENSP00000265104:F3416L	ENSP00000265104:F3416L	F	-	3	2	DNAH5	13815864	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	1.676000	0.37565	0.229000	0.21039	0.305000	0.20034	TTC	DNAH5	-	NULL		0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13762864	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	0.996	T
DNAJC10	54431	genome.wustl.edu	37	2	183581193	183581193	+	5'UTR	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:183581193C>T	ENST00000264065.7	+	0	195				DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_5'Flank	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10						cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTACAGGAAGCGACCCCGCGA	0.701																																					Pancreas(56;860 1183 25669 35822 48585)												0																																										SO:0001623	5_prime_UTR_variant	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.-221C>T	2.37:g.183581193C>T			Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	RNA	SNP	-	NULL	ENST00000264065.7	37	NULL	CCDS33345.1	2																																																																																			DNAJC10	-	-		0.701	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	C	NM_018981		183581193	+1	no_errors	ENST00000469118	ensembl	human	known	70_37	rna	SNP	0.202	T
DSE	29940	genome.wustl.edu	37	6	116757050	116757050	+	Silent	SNP	C	C	T	rs374010235		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:116757050C>T	ENST00000331677.3	+	7	1863	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	DSE_ENST00000359564.2_Silent_p.Y473Y|DSE_ENST00000452085.3_Silent_p.Y473Y|DSE_ENST00000537543.1_Silent_p.Y492Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	473					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGGCTCTGTACGGGCCAAAGT	0.448													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20783	0.0		0.0	False		,,,				2504	0.0																0								T	,	0,4406		0,0,2203	67.0	59.0	62.0		1419,1419	-12.0	0.0	6		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSE	NM_001080976.1,NM_013352.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	473/959,473/959	116757050	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1419C>T	6.37:g.116757050C>T			Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.Y492	ENST00000331677.3	37	c.1476	CCDS5107.1	6																																																																																			DSE	-	NULL		0.448	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	C	NM_013352		116757050	+1	no_errors	ENST00000537543	ensembl	human	known	70_37	silent	SNP	0.009	T
DSE	29940	genome.wustl.edu	37	6	116757050	116757050	+	Silent	SNP	C	C	T	rs374010235		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:116757050C>T	ENST00000331677.3	+	7	1863	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	DSE_ENST00000359564.2_Silent_p.Y473Y|DSE_ENST00000452085.3_Silent_p.Y473Y|DSE_ENST00000537543.1_Silent_p.Y492Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	473					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGGCTCTGTACGGGCCAAAGT	0.448													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20783	0.0		0.0	False		,,,				2504	0.0																0								T	,	0,4406		0,0,2203	67.0	59.0	62.0		1419,1419	-12.0	0.0	6		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSE	NM_001080976.1,NM_013352.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	473/959,473/959	116757050	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1419C>T	6.37:g.116757050C>T			Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.Y492	ENST00000331677.3	37	c.1476	CCDS5107.1	6																																																																																			DSE	-	NULL		0.448	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	C	NM_013352		116757050	+1	no_errors	ENST00000537543	ensembl	human	known	70_37	silent	SNP	0.009	T
DSPP	1834	genome.wustl.edu	37	4	88536937	88536937	+	Silent	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:88536937T>C	ENST00000282478.7	+	4	3156	c.3123T>C	c.(3121-3123)gaT>gaC	p.D1041D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1041D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1041	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagcgatagcagtgaca	0.522																																																	0													55.0	64.0	61.0					4																	88536937		1555	2768	4323	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3123T>C	4.37:g.88536937T>C			A8MUI0|O95815	Silent	SNP	NULL	p.D1041	ENST00000282478.7	37	c.3123	CCDS43248.1	4																																																																																			DSPP	-	NULL		0.522	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	T	NM_014208		88536937	+1	no_errors	ENST00000282478	ensembl	human	known	70_37	silent	SNP	0.986	C
EMR2	30817	genome.wustl.edu	37	19	14863254	14863254	+	Missense_Mutation	SNP	G	G	C	rs143243021	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:14863254G>C	ENST00000315576.3	-	15	2126	c.1675C>G	c.(1675-1677)Ctc>Gtc	p.L559V	EMR2_ENST00000346057.1_Missense_Mutation_p.L510V|EMR2_ENST00000353005.1_Missense_Mutation_p.L417V|EMR2_ENST00000596991.2_Missense_Mutation_p.L548V|EMR2_ENST00000601345.1_Missense_Mutation_p.L548V|EMR2_ENST00000595839.1_Missense_Mutation_p.L417V|EMR2_ENST00000392964.3_Missense_Mutation_p.S223C|EMR2_ENST00000594076.1_Missense_Mutation_p.L466V|EMR2_ENST00000392965.3_Missense_Mutation_p.L501V|EMR2_ENST00000353876.1_Missense_Mutation_p.L466V|EMR2_ENST00000392967.2_Missense_Mutation_p.L548V|EMR2_ENST00000594294.1_Missense_Mutation_p.L510V	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	559					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TTACACAGGAGAAAAGTGAGG	0.587																																																	0								G	VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU	4,4402	6.2+/-15.9	0,4,2199	107.0	96.0	100.0		1675,1528,1396,1249,1642,1495,1363	4.2	1.0	19	dbSNP_134	100	0,8600	1.2+/-3.3	0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	32,32,32,32,32,32,32	0,4,6499	CC,CG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	559/824,510/775,466/731,417/682,548/813,499/764,455/720	14863254	4,13002	2203	4300	6503	SO:0001583	missense	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1675C>G	19.37:g.14863254G>C	ENSP00000319883:p.Leu559Val		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.L559V	ENST00000315576.3	37	c.1675	CCDS32935.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.912|8.912	0.958842|0.958842	0.18507|0.18507	9.08E-4|9.08E-4	0.0|0.0	ENSG00000127507|ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965|ENST00000392964;ENST00000392962	T;T;T;T;T;T|T;T	0.39056|0.79653	1.1;1.1;1.1;1.1;1.1;1.1|1.1;-1.29	4.22|4.22	4.22|4.22	0.49857|0.49857	GPCR, family 2-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.86497|0.86497	0.5947|0.5947	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D;P;D;D;D;D|.	0.89917|.	1.0;0.995;1.0;0.937;0.996;0.997;1.0;0.997|.	D;D;D;P;D;D;D;D|.	0.97110|.	0.999;0.962;1.0;0.743;0.983;0.987;0.996;0.945|.	D|D	0.87234|0.87234	0.2262|0.2262	9|7	0.66056|0.48119	D|T	0.02|0.1	.|.	14.4511|14.4511	0.67385|0.67385	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	501;466;559;417;510;559;559;548|.	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2|.	.;.;.;.;.;.;EMR2_HUMAN;.|.	V|C	559;548;510;466;417;501|223;377	ENSP00000319883:L559V;ENSP00000376694:L548V;ENSP00000263380:L510V;ENSP00000319454:L466V;ENSP00000319838:L417V;ENSP00000376692:L501V|ENSP00000376691:S223C;ENSP00000376689:S377C	ENSP00000319883:L559V|ENSP00000376689:S377C	L|S	-|-	1|2	0|0	EMR2|EMR2	14724254|14724254	0.019000|0.019000	0.18553|0.18553	0.991000|0.991000	0.47740|0.47740	0.043000|0.043000	0.13939|0.13939	-0.113000|-0.113000	0.10774|0.10774	2.064000|2.064000	0.61679|0.61679	0.508000|0.508000	0.49915|0.49915	CTC|TCT	EMR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	G			14863254	-1	no_errors	ENST00000596991	ensembl	human	known	70_37	missense	SNP	0.998	C
AC008132.13	0	genome.wustl.edu	37	22	18839300	18839300	+	3'UTR	SNP	T	T	C	rs62231293		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr22:18839300T>C	ENST00000342005.4	+	0	1667				AC008132.13_ENST00000412938.1_3'UTR																							CACCAAATCCTGGACCAGGCA	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000342005.4:c.*157T>C	22.37:g.18839300T>C				RNA	SNP	-	NULL	ENST00000342005.4	37	NULL		22																																																																																			AC008103.5	-	-		0.612	AC008132.13-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	ENSG00000161103	Clone_based_vega_gene	protein_coding	OTTHUMT00000316711.1	T			18839300	+1	no_errors	ENST00000412938	ensembl	human	known	70_37	rna	SNP	0.002	C
BCRP7	100133163	genome.wustl.edu	37	22	18844790	18844790	+	3'UTR	SNP	C	C	T	rs5993357		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr22:18844790C>T	ENST00000412938.1	+	0	3040																											GTGGAGGAGACGTCTCCCATG	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3037C>T	22.37:g.18844790C>T				RNA	SNP	-	NULL	ENST00000412938.1	37	NULL		22																																																																																			AC008103.5	-	-		0.577	AC008132.13-002	KNOWN	basic	processed_transcript	ENSG00000161103	Clone_based_vega_gene	protein_coding	OTTHUMT00000471615.1	C			18844790	+1	no_errors	ENST00000412938	ensembl	human	known	70_37	rna	SNP	0.104	T
IGLV2-28	28812	genome.wustl.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																																	0																																												0																															22.37:g.23006961C>T				RNA	SNP	-	NULL	ENST00000385099.1	37	NULL		22																																																																																			D86994.2	-	-		0.627	D86994.2-201	NOVEL	basic	miRNA	ENSG00000207834	Clone_based_ensembl_gene	miRNA		C			23006961	+1	no_errors	ENST00000385099	ensembl	human	novel	70_37	rna	SNP	0.759	T
RP11-655H13.2	0	genome.wustl.edu	37	10	110598925	110598925	+	lincRNA	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:110598925G>C	ENST00000421481.1	+	0	284																											aaaagcatctgatgtaaacac	0.507																																																	0																																												0																															10.37:g.110598925G>C				RNA	SNP	-	NULL	ENST00000421481.1	37	NULL		10																																																																																			RP11-655H13.2	-	-		0.507	RP11-655H13.2-001	KNOWN	basic	lincRNA	ENSG00000223381	Clone_based_vega_gene	lincRNA	OTTHUMT00000050244.1	G			110598925	+1	no_errors	ENST00000421481	ensembl	human	known	70_37	rna	SNP	0.060	C
RP5-1027O11.1	0	genome.wustl.edu	37	1	88371376	88371376	+	lincRNA	SNP	T	T	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:88371376T>A	ENST00000437598.1	-	0	21																											CTTGTCAATGTAAAGGACAAA	0.308																																																	0																																												0																															1.37:g.88371376T>A				RNA	SNP	-	NULL	ENST00000437598.1	37	NULL		1																																																																																			RP5-1027O11.1	-	-		0.308	RP5-1027O11.1-001	KNOWN	basic	lincRNA	ENSG00000224235	Clone_based_vega_gene	lincRNA	OTTHUMT00000092710.1	T			88371376	-1	no_errors	ENST00000437598	ensembl	human	known	70_37	rna	SNP	0.978	A
GALNT13	114805	genome.wustl.edu	37	2	155293087	155293087	+	Intron	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:155293087C>A	ENST00000392825.3	+	12	1962				AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_Intron|GALNT13_ENST00000487047.1_Intron	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAAGAAATTTCTCTAGAAATT	0.299																																																	0																																										SO:0001627	intron_variant	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1396-2017C>A	2.37:g.155293087C>A			Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	RNA	SNP	-	NULL	ENST00000392825.3	37	NULL	CCDS2199.1	2																																																																																			AC009227.2	-	-		0.299	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224675	Clone_based_vega_gene	protein_coding	OTTHUMT00000254870.2	C	NM_052917		155293087	-1	no_errors	ENST00000434635	ensembl	human	known	70_37	rna	SNP	0.948	A
GALNT13	114805	genome.wustl.edu	37	2	155293269	155293269	+	Intron	SNP	A	A	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:155293269A>G	ENST00000392825.3	+	12	1962				AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_Intron|GALNT13_ENST00000487047.1_Intron	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GAAAAAGTAAAGAACCTAGAA	0.244																																																	0																																										SO:0001627	intron_variant	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1396-1835A>G	2.37:g.155293269A>G			Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	RNA	SNP	-	NULL	ENST00000392825.3	37	NULL	CCDS2199.1	2																																																																																			AC009227.2	-	-		0.244	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224675	Clone_based_vega_gene	protein_coding	OTTHUMT00000254870.2	A	NM_052917		155293269	-1	no_errors	ENST00000434635	ensembl	human	known	70_37	rna	SNP	0.000	G
NUTM2B-AS1	101060691	genome.wustl.edu	37	10	81564275	81564275	+	lincRNA	SNP	C	C	T	rs200104332		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:81564275C>T	ENST00000495430.1	-	0	794																											CTGTTAATGTCATATGAGCCT	0.343																																																	0																																												0																															10.37:g.81564275C>T				RNA	SNP	-	NULL	ENST00000495430.1	37	NULL		10																																																																																			RP11-773D16.1	-	-		0.343	RP11-773D16.1-004	KNOWN	basic	lincRNA	ENSG00000225484	Clone_based_vega_gene	lincRNA	OTTHUMT00000049001.1	C			81564275	-1	no_errors	ENST00000419697	ensembl	human	known	70_37	rna	SNP	0.057	T
MMS22L	253714	genome.wustl.edu	37	6	97731265	97731266	+	5'Flank	INS	-	-	A	rs578165892|rs71012594		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:97731265_97731266insA	ENST00000275053.4	-	0	0				MMS22L_ENST00000369251.2_5'Flank	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein						double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CGGGGCCTGGTAAAAAAAAAAA	0.475																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248		6.37:g.97731276_97731276dupA	Exception_encountered		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	RNA	INS	-	NULL	ENST00000275053.4	37	NULL	CCDS5039.1	6																																																																																			RP3-418C23.2	-	-		0.475	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000226684	Clone_based_vega_gene	protein_coding	OTTHUMT00000041573.3	-	NM_198468		97731266	+1	no_errors	ENST00000457513	ensembl	human	known	70_37	rna	INS	0.000:0.000	A
RP13-188A5.1	0	genome.wustl.edu	37	X	55935175	55935175	+	lincRNA	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:55935175G>A	ENST00000452532.1	+	0	620																											GCCCCGCCCCGTCGGCCCAGG	0.612																																																	0																																												0																															X.37:g.55935175G>A				RNA	SNP	-	NULL	ENST00000452532.1	37	NULL		X																																																																																			RP13-188A5.1	-	-		0.612	RP13-188A5.1-001	KNOWN	basic	lincRNA	ENSG00000227486	Clone_based_vega_gene	lincRNA	OTTHUMT00000056885.1	G			55935175	+1	no_errors	ENST00000452532	ensembl	human	known	70_37	rna	SNP	0.103	A
RP4-705D16.3	0	genome.wustl.edu	37	20	16695511	16695511	+	RNA	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr20:16695511G>C	ENST00000425939.1	-	0	1078																											TTTTAATTTTGAAATGCTCTG	0.453																																																	0																																												0																															20.37:g.16695511G>C				RNA	SNP	-	NULL	ENST00000425939.1	37	NULL		20																																																																																			RP4-705D16.3	-	-		0.453	RP4-705D16.3-001	KNOWN	not_organism_supported|basic	antisense	ENSG00000228809	Clone_based_vega_gene	antisense	OTTHUMT00000078109.1	G			16695511	-1	no_errors	ENST00000425939	ensembl	human	known	70_37	rna	SNP	0.001	C
ICA1	3382	genome.wustl.edu	37	7	8301939	8301939	+	Intron	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr7:8301939C>G	ENST00000406470.2	-	1	116				AC007128.1_ENST00000424460.1_RNA|ICA1_ENST00000396675.3_5'Flank|ICA1_ENST00000407906.1_Intron|ICA1_ENST00000402384.3_5'Flank|ICA1_ENST00000265577.7_5'Flank|AC007009.1_ENST00000458624.1_RNA	NM_001276478.1|NM_004968.2	NP_001263407.1|NP_004959.2	Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		cgggcgccctcgccgcccggc	0.786																																																	0																																										SO:0001627	intron_variant	0				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000406470.2:c.78+130G>C	7.37:g.8301939C>G			A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	RNA	SNP	-	NULL	ENST00000406470.2	37	NULL	CCDS34602.1	7																																																																																			AC007128.1	-	-		0.786	ICA1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000229970	Clone_based_vega_gene	protein_coding	OTTHUMT00000324886.1	C	NM_004968		8301939	+1	no_errors	ENST00000424460	ensembl	human	known	70_37	rna	SNP	0.000	G
AJ006995.3	0	genome.wustl.edu	37	21	29350361	29350361	+	lincRNA	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr21:29350361C>T	ENST00000433344.1	+	0	236																											ggcccgccatcgtgcccagct	0.498																																																	0																																												0																															21.37:g.29350361C>T				RNA	SNP	-	NULL	ENST00000433344.1	37	NULL		21																																																																																			AJ006995.3	-	-		0.498	AJ006995.3-001	KNOWN	basic	lincRNA	ENSG00000234083	Clone_based_vega_gene	lincRNA	OTTHUMT00000157552.1	C			29350361	+1	no_errors	ENST00000433344	ensembl	human	known	70_37	rna	SNP	0.001	T
TIAM2	26230	genome.wustl.edu	37	6	155577153	155577154	+	Intron	INS	-	-	AG	rs71558246|rs377553899|rs9322506|rs35196701|rs147053141|rs76058666	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:155577153_155577154insAG	ENST00000461783.3	+	29	5741				TIAM2_ENST00000318981.5_Intron|TIAM2_ENST00000456877.2_Intron|TIAM2_ENST00000456144.1_Intron|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000529824.2_Intron|TIAM2_ENST00000360366.4_Intron|TIAM2_ENST00000528391.2_Intron|TIAM2_ENST00000367174.2_Intron|TIAM2_ENST00000275246.7_Intron			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ttaaaaaaaaaGGGGGGGGGAG	0.48														2189	0.437101	0.2935	0.5403	5008	,	,		12821	0.6825		0.2913	False		,,,				2504	0.455																0																																										SO:0001627	intron_variant	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4469-464->AG	6.37:g.155577153_155577154insAG			B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	RNA	INS	-	NULL	ENST00000461783.3	37	NULL	CCDS34558.1	6																																																																																			RP11-477D19.2	-	-		0.480	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ENSG00000235381	Clone_based_vega_gene	protein_coding	OTTHUMT00000387980.2	-	NM_012454		155577154	-1	no_errors	ENST00000435295	ensembl	human	known	70_37	rna	INS	0.000:0.000	AG
PLCL1	5334	genome.wustl.edu	37	2	199239323	199239323	+	Intron	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:199239323G>T	ENST00000472193.1	+	3	192				AC005235.1_ENST00000456248.1_lincRNA			Q15111	PLCL1_HUMAN	phospholipase C-like 1						gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAAGACTTGTGATAAGTCCTT	0.363																																																	0																																										SO:0001627	intron_variant	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000472193.1:c.193-13254G>T	2.37:g.199239323G>T			Q3MJ90|Q53SD3|Q7Z3S3	RNA	SNP	-	NULL	ENST00000472193.1	37	NULL		2																																																																																			AC005235.1	-	-		0.363	PLCL1-005	KNOWN	basic	processed_transcript	ENSG00000236653	Clone_based_vega_gene	protein_coding	OTTHUMT00000335665.1	G	NM_006226		199239323	-1	no_errors	ENST00000443261	ensembl	human	known	70_37	rna	SNP	0.000	T
CROCC	9696	genome.wustl.edu	37	1	17215742	17215742	+	lincRNA	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:17215742G>A	ENST00000422124.1	-	0	126																											GCCCCCGTGCGGAACACAGGA	0.682																																																	0																																												0																															1.37:g.17215742G>A				RNA	SNP	-	NULL	ENST00000422124.1	37	NULL		1																																																																																			RP11-108M9.4	-	-		0.682	RP11-108M9.4-003	KNOWN	basic	lincRNA	ENSG00000238142	Clone_based_vega_gene	lincRNA	OTTHUMT00000006260.1	G			17215742	-1	no_errors	ENST00000422124	ensembl	human	known	70_37	rna	SNP	0.041	A
TMA7	51372	genome.wustl.edu	37	3	48482224	48482224	+	Intron	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:48482224G>C	ENST00000438607.2	+	3	200				CCDC51_ENST00000395696.1_5'Flank|CCDC51_ENST00000442740.1_5'Flank|RP11-24C3.2_ENST00000438872.1_RNA|CCDC51_ENST00000412398.2_5'Flank|CCDC51_ENST00000395694.2_5'Flank|RP11-24C3.2_ENST00000435578.1_RNA|CCDC51_ENST00000447018.1_5'Flank	NM_015933.3	NP_057017.1	Q9Y2S6	TMA7_HUMAN	translation machinery associated 7 homolog (S. cerevisiae)											lung(1)	1						agctggaaacgaggtctcctg	0.547																																																	0																																										SO:0001627	intron_variant	0			AF077202	CCDS46823.1	3p21.31	2013-02-22	2013-02-22	2012-06-07	ENSG00000232112	ENSG00000232112			26932	protein-coding gene	gene with protein product		615808	"""coiled-coil domain containing 72"""	CCDC72		11042152, 15740594	Standard	NM_015933		Approved	HSPC016	uc003cte.1	Q9Y2S6	OTTHUMG00000156588	ENST00000438607.2:c.160+186G>C	3.37:g.48482224G>C			Q9P052	RNA	SNP	-	NULL	ENST00000438607.2	37	NULL	CCDS46823.1	3																																																																																			RP11-24C3.2	-	-		0.547	TMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000244380	Clone_based_vega_gene	protein_coding	OTTHUMT00000344688.1	G	NM_015933		48482224	-1	no_errors	ENST00000435578	ensembl	human	known	70_37	rna	SNP	0.004	C
CLDN11	5010	genome.wustl.edu	37	3	170458280	170458280	+	Intron	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:170458280C>A	ENST00000486975.1	+	3	741				RP11-373E16.4_ENST00000473110.1_lincRNA			O75508	CLD11_HUMAN	claudin 11						axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			cctgtgtctccttgtatcatc	0.463																																																	0																																										SO:0001627	intron_variant	0			AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"""Claudins"""	8514	protein-coding gene	gene with protein product		601326	"""oligodendrocyte transmembrane protein"""	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000486975.1:c.495+32297C>A	3.37:g.170458280C>A			B2R7C1|D3DNQ5|Q5U0P3	RNA	SNP	-	NULL	ENST00000486975.1	37	NULL		3																																																																																			RP11-373E16.4	-	-		0.463	CLDN11-002	PUTATIVE	basic	protein_coding	ENSG00000239739	Clone_based_vega_gene	protein_coding	OTTHUMT00000352414.1	C	NM_005602		170458280	-1	no_errors	ENST00000473110	ensembl	human	known	70_37	rna	SNP	0.000	A
AC004051.2	0	genome.wustl.edu	37	4	110236384	110236384	+	lincRNA	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:110236384G>A	ENST00000500526.1	+	0	1044																											agatgaccctgaagggtatac	0.378																																																	0																																												0																															4.37:g.110236384G>A				RNA	SNP	-	NULL	ENST00000500526.1	37	NULL		4																																																																																			AC004051.2	-	-		0.378	AC004051.2-001	KNOWN	basic	lincRNA	ENSG00000246774	Clone_based_vega_gene	lincRNA	OTTHUMT00000363573.1	G			110236384	+1	no_errors	ENST00000500526	ensembl	human	known	70_37	rna	SNP	0.092	A
NCAM1	4684	genome.wustl.edu	37	11	112830504	112830504	+	5'Flank	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr11:112830504G>C	ENST00000533760.1	+	0	0				RP11-629G13.1_ENST00000532002.1_RNA|RP11-629G13.1_ENST00000500537.2_RNA	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		cttggaatgagAGAAATAGCC	0.378																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196		11.37:g.112830504G>C	Exception_encountered		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	RNA	SNP	-	NULL	ENST00000533760.1	37	NULL		11																																																																																			RP11-629G13.1	-	-		0.378	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	ENSG00000247416	Clone_based_vega_gene	protein_coding	OTTHUMT00000394068.2	G	NM_000615		112830504	-1	no_errors	ENST00000500537	ensembl	human	known	70_37	rna	SNP	0.001	C
LOC101928174	101928174	genome.wustl.edu	37	15	35104824	35104824	+	RNA	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr15:35104824G>T	ENST00000503496.1	+	0	2427																											aggagaGCTGGTTTCCCAGCT	0.373																																																	0																																												0																															15.37:g.35104824G>T				RNA	SNP	-	NULL	ENST00000503496.1	37	NULL		15																																																																																			RP11-814P5.1	-	-		0.373	RP11-814P5.1-001	KNOWN	basic	antisense	ENSG00000250007	Clone_based_vega_gene	antisense	OTTHUMT00000417521.1	G			35104824	+1	no_errors	ENST00000503496	ensembl	human	known	70_37	rna	SNP	0.003	T
LOC102724392	102724392	genome.wustl.edu	37	5	70647744	70647744	+	lincRNA	SNP	A	A	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr5:70647744A>C	ENST00000502659.2	-	0	2704																											cacacacacaAAAACCCTAAA	0.353																																																	0																																												0																															5.37:g.70647744A>C				RNA	SNP	-	NULL	ENST00000502659.2	37	NULL		5																																																																																			RP11-136K7.2	-	-		0.353	RP11-136K7.2-001	KNOWN	basic	lincRNA	ENSG00000250387	Clone_based_vega_gene	lincRNA	OTTHUMT00000374679.1	A			70647744	-1	no_errors	ENST00000502659	ensembl	human	putative	70_37	rna	SNP	0.005	C
RNU6-916P	106481468	genome.wustl.edu	37	18	6936936	6936936	+	RNA	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr18:6936936T>C	ENST00000516088.1	-	0	83									RNA, U6 small nuclear 916, pseudogene																		ttcacgaatgtgcatgtcatc	0.353																																																	0																																												0					18p11.31	2013-05-01			ENSG00000251897	ENSG00000251897			47879	pseudogene	RNA, pseudogene							Standard			Approved						18.37:g.6936936T>C				RNA	SNP	-	NULL	ENST00000516088.1	37	NULL		18																																																																																			U6	-	-		0.353	RNU6-916P-201	KNOWN	basic	snRNA	ENSG00000251897	RFAM	snRNA		T			6936936	-1	no_errors	ENST00000516088	ensembl	human	novel	70_37	rna	SNP	0.239	C
LOC102724612	102724612	genome.wustl.edu	37	8	64381117	64381117	+	lincRNA	SNP	A	A	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:64381117A>T	ENST00000518739.1	+	0	1567																											TGGAGGCATCAAAATACTTCC	0.284																																																	0																																												0																															8.37:g.64381117A>T				RNA	SNP	-	NULL	ENST00000518739.1	37	NULL		8																																																																																			RP11-45K10.2	-	-		0.284	RP11-45K10.2-001	KNOWN	basic	lincRNA	ENSG00000253894	Clone_based_vega_gene	lincRNA	OTTHUMT00000378596.1	A			64381117	+1	no_errors	ENST00000518739	ensembl	human	known	70_37	rna	SNP	0.000	T
LOC401478	401478	genome.wustl.edu	37	8	139085371	139085371	+	lincRNA	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:139085371C>A	ENST00000521793.1	+	0	484				RP11-238K6.1_ENST00000518973.1_lincRNA																							gtaatgggatcatttgtatct	0.428																																																	0																																												0																															8.37:g.139085371C>A				RNA	SNP	-	NULL	ENST00000521793.1	37	NULL		8																																																																																			RP11-489O18.1	-	-		0.428	RP11-489O18.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000253988	Clone_based_vega_gene	lincRNA	OTTHUMT00000377598.1	C			139085371	+1	no_errors	ENST00000521793	ensembl	human	known	70_37	rna	SNP	0.170	A
SEC16B	89866	genome.wustl.edu	37	1	177929129	177929129	+	Intron	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:177929129G>A	ENST00000308284.6	-	8	1088				RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Intron	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)						COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTTCTGCTATGATCCACTTGT	0.448																																																	0																																										SO:0001627	intron_variant	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.998+347C>T	1.37:g.177929129G>A			A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	RNA	SNP	-	NULL	ENST00000308284.6	37	NULL	CCDS44281.1	1																																																																																			RP4-798P15.3	-	-		0.448	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254154	Clone_based_vega_gene	protein_coding	OTTHUMT00000084773.16	G	NM_033127		177929129	-1	no_errors	ENST00000466953	ensembl	human	known	70_37	rna	SNP	0.003	A
KIAA0430	9665	genome.wustl.edu	37	16	15704411	15704411	+	Intron	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr16:15704411G>C	ENST00000396368.3	-	19	3958				KIAA0430_ENST00000602337.1_Intron|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000548025.1_Intron|KIAA0430_ENST00000551742.1_Intron|KIAA0430_ENST00000540441.2_Intron|CTB-193M12.1_ENST00000549756.1_RNA	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430						double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ATTAAAATTTGAAAGGCAAAA	0.403																																																	0																																										SO:0001627	intron_variant	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3751+420C>G	16.37:g.15704411G>C			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	RNA	SNP	-	NULL	ENST00000396368.3	37	NULL	CCDS10562.2	16																																																																																			CTB-193M12.1	-	-		0.403	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000257769	Clone_based_vega_gene	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15704411	+1	no_errors	ENST00000549756	ensembl	human	known	70_37	rna	SNP	0.000	C
TTC7B	145567	genome.wustl.edu	37	14	91034045	91034045	+	Intron	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr14:91034045C>G	ENST00000328459.6	-	19	2432				RP11-1078H9.2_ENST00000557622.1_lincRNA|TTC7B_ENST00000554654.1_Intron|TTC7B_ENST00000357056.2_Intron|AL096869.1_ENST00000516939.1_RNA	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B											NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				gttggccactcactgctctgg	0.512																																																	0																																										SO:0001627	intron_variant	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2310+10404G>C	14.37:g.91034045C>G			Q86U24|Q86VT3	RNA	SNP	-	NULL	ENST00000328459.6	37	NULL	CCDS32140.1	14																																																																																			RP11-1078H9.2	-	-		0.512	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258935	Clone_based_vega_gene	protein_coding	OTTHUMT00000411364.2	C			91034045	+1	no_errors	ENST00000557622	ensembl	human	known	70_37	rna	SNP	0.000	G
RP11-143K11.1	0	genome.wustl.edu	37	17	71172065	71172065	+	lincRNA	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:71172065G>C	ENST00000569655.1	+	0	444				RP11-143K11.5_ENST00000580671.1_RNA																							AGTCACTGAAGACAGAAAGGG	0.532																																																	0																																												0																															17.37:g.71172065G>C				RNA	SNP	-	NULL	ENST00000569655.1	37	NULL		17																																																																																			RP11-143K11.1	-	-		0.532	RP11-143K11.1-001	KNOWN	basic	lincRNA	ENSG00000260248	Clone_based_vega_gene	lincRNA	OTTHUMT00000431483.1	G			71172065	+1	no_errors	ENST00000569655	ensembl	human	known	70_37	rna	SNP	0.006	C
RP11-517B11.7	0	genome.wustl.edu	37	3	131175355	131175355	+	RNA	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:131175355C>T	ENST00000565095.1	-	0	2087																											ATATAGCCATCCGTGCATCTT	0.348																																																	0																																												0																															3.37:g.131175355C>T				RNA	SNP	-	NULL	ENST00000565095.1	37	NULL		3																																																																																			RP11-517B11.7	-	-		0.348	RP11-517B11.7-001	KNOWN	basic	sense_overlapping	ENSG00000261167	Clone_based_vega_gene	sense_overlapping	OTTHUMT00000431071.1	C			131175355	-1	no_errors	ENST00000565095	ensembl	human	known	70_37	rna	SNP	0.003	T
CBFA2T3	863	genome.wustl.edu	37	16	89003293	89003293	+	Intron	SNP	C	C	T	rs112865243	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr16:89003293C>T	ENST00000268679.4	-	2	548				CBFA2T3_ENST00000360302.2_Intron|CBFA2T3_ENST00000436887.2_Intron|RP11-830F9.7_ENST00000564646.1_RNA|CBFA2T3_ENST00000448839.1_Intron|RP11-830F9.6_ENST00000378347.2_5'Flank|CBFA2T3_ENST00000327483.5_Intron	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3						cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGGCAAGCTGCGAGCTCAGAA	0.582			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	0																																										SO:0001627	intron_variant	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.152-35229G>A	16.37:g.89003293C>T			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	RNA	SNP	-	NULL	ENST00000268679.4	37	NULL	CCDS10972.1	16																																																																																			RP11-830F9.7	-	-		0.582	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000261226	Clone_based_vega_gene	protein_coding	OTTHUMT00000269545.2	C	NM_005187		89003293	-1	no_errors	ENST00000561980	ensembl	human	known	70_37	rna	SNP	0.000	T
SLCO5A1	81796	genome.wustl.edu	37	8	70580973	70580973	+	3'UTR	SNP	T	T	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:70580973T>G	ENST00000260126.4	-	0	7384					NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGAATTTTCTTGGTGGTTGG	0.483																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.*4131A>C	8.37:g.70580973T>G			A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	RNA	SNP	-	NULL	ENST00000260126.4	37	NULL	CCDS6205.1	8																																																																																			RP11-102F4.3	-	-		0.483	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261658	Clone_based_vega_gene	protein_coding	OTTHUMT00000381990.3	T	NM_030958		70580973	-1	no_errors	ENST00000562490	ensembl	human	known	70_37	rna	SNP	0.001	G
THOC2	57187	genome.wustl.edu	37	X	122844839	122844839	+	Intron	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:122844839C>A	ENST00000245838.8	-	2	162				RN7SL29P_ENST00000584278.1_RNA|THOC2_ENST00000355725.4_Intron	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						gattccatctcaaaaaaaaaa	0.498													C|||	32	0.00847682	0.0068	0.0072	3775	,	,		10143	0.006		0.002	False		,,,				2504	0.0102																0																																										SO:0001627	intron_variant	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.130+1860G>T	X.37:g.122844839C>A			A6NM50|Q5JZ12|Q6IN92|Q9H8I6	RNA	SNP	-	NULL	ENST00000245838.8	37	NULL	CCDS43988.1	X																																																																																			Metazoa_SRP	-	-		0.498	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000264467	RFAM	protein_coding	OTTHUMT00000058153.3	C			122844839	+1	no_errors	ENST00000584278	ensembl	human	novel	70_37	rna	SNP	0.036	A
LOC101927411	101927411	genome.wustl.edu	37	19	32597418	32597418	+	lincRNA	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:32597418G>C	ENST00000591212.1	-	0	0				AC011518.2_ENST00000593038.1_lincRNA																							GAAATTGCCTGATTTAAGTAA	0.388																																																	0																																												0																															19.37:g.32597418G>C				RNA	SNP	-	NULL	ENST00000591212.1	37	NULL		19																																																																																			AC011518.2	-	-		0.388	AC011518.1-001	KNOWN	basic	lincRNA	ENSG00000267133	Clone_based_vega_gene	lincRNA	OTTHUMT00000450352.1	G			32597418	+1	no_errors	ENST00000591232	ensembl	human	known	70_37	rna	SNP	1.000	C
ZNF347	84671	genome.wustl.edu	37	19	53638206	53638206	+	Intron	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:53638206G>C	ENST00000601804.1	-	4	238				ZNF415_ENST00000421033.1_5'Flank|CTD-2620I22.7_ENST00000596766.1_lincRNA|ZNF415_ENST00000500065.4_5'Flank|ZNF415_ENST00000594011.1_5'Flank|ZNF415_ENST00000596683.1_5'Flank|ZNF415_ENST00000595193.1_5'Flank|ZNF415_ENST00000440291.1_5'Flank|ZNF415_ENST00000448501.1_5'Flank|ZNF415_ENST00000455735.2_5'Flank|ZNF415_ENST00000600574.1_5'Flank|ZNF415_ENST00000595813.1_5'Flank|ZNF415_ENST00000597503.1_5'Flank|ZNF415_ENST00000599261.1_5'Flank|ZNF415_ENST00000243643.4_5'Flank|ZNF415_ENST00000601493.1_5'Flank			Q96SE7	ZN347_HUMAN	zinc finger protein 347						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TAAAAATATAGATTTAATACA	0.274																																					Melanoma(64;205 1597 17324 45721)												0																																										SO:0001627	intron_variant	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000601804.1:c.98-10624C>G	19.37:g.53638206G>C			B3KU77|B9EG59|G5E9N4|Q8TCN1	RNA	SNP	-	NULL	ENST00000601804.1	37	NULL		19																																																																																			CTD-2620I22.7	-	-		0.274	ZNF347-006	PUTATIVE	basic	protein_coding	ENSG00000268613	Clone_based_vega_gene	protein_coding	OTTHUMT00000464169.1	G	NM_032584		53638206	-1	no_errors	ENST00000596766	ensembl	human	known	70_37	rna	SNP	0.029	C
ERI1	90459	genome.wustl.edu	37	8	8973882	8973882	+	IGR	SNP	G	G	A	rs540946994	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:8973882G>A								ERI1 (16273 upstream) : PPP1R3B (19882 downstream)																							TCCAAGAGACGCCTGCAGTCC	0.498													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20160	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001628	intergenic_variant	90459																															8.37:g.8973882G>A				RNA	SNP	-	NULL		37	NULL		8																																																																																			ERI1	-	-	0	0.498					ERI1	HGNC			G			8973882	+1	no_errors	ENST00000518663	ensembl	human	known	70_37	rna	SNP	0.001	A
F2RL3	9002	genome.wustl.edu	37	19	17001291	17001291	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:17001291C>G	ENST00000248076.3	+	2	1347	c.1017C>G	c.(1015-1017)atC>atG	p.I339M		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	339					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATCCCTTCATCTACTACTACG	0.657																																																	0													36.0	34.0	35.0					19																	17001291		2202	4299	6501	SO:0001583	missense	9002			AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.1017C>G	19.37:g.17001291C>G	ENSP00000248076:p.Ile339Met		O76067|Q6DK42	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor	p.I339M	ENST00000248076.3	37	c.1017	CCDS12350.1	19	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208791	0.39003	.	.	ENSG00000127533	ENST00000248076	T	0.57273	0.41	4.15	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.552447	0.16885	U	0.195548	T	0.62780	0.2456	M	0.74546	2.27	0.28671	N	0.905616	P	0.42518	0.782	P	0.51101	0.659	T	0.59172	-0.7504	10	0.44086	T	0.13	.	12.6698	0.56860	0.0:0.5188:0.4812:0.0	.	339	Q96RI0	PAR4_HUMAN	M	339	ENSP00000248076:I339M	ENSP00000248076:I339M	I	+	3	3	F2RL3	16862291	0.665000	0.27466	0.838000	0.33150	0.123000	0.20343	-0.160000	0.10041	0.167000	0.19631	0.491000	0.48974	ATC	F2RL3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.657	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL3	HGNC	protein_coding	OTTHUMT00000462875.1	C			17001291	+1	no_errors	ENST00000248076	ensembl	human	known	70_37	missense	SNP	0.998	G
F2RL3	9002	genome.wustl.edu	37	19	17001291	17001291	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:17001291C>G	ENST00000248076.3	+	2	1347	c.1017C>G	c.(1015-1017)atC>atG	p.I339M		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	339					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATCCCTTCATCTACTACTACG	0.657																																																	0													36.0	34.0	35.0					19																	17001291		2202	4299	6501	SO:0001583	missense	9002			AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.1017C>G	19.37:g.17001291C>G	ENSP00000248076:p.Ile339Met		O76067|Q6DK42	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor	p.I339M	ENST00000248076.3	37	c.1017	CCDS12350.1	19	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208791	0.39003	.	.	ENSG00000127533	ENST00000248076	T	0.57273	0.41	4.15	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.552447	0.16885	U	0.195548	T	0.62780	0.2456	M	0.74546	2.27	0.28671	N	0.905616	P	0.42518	0.782	P	0.51101	0.659	T	0.59172	-0.7504	10	0.44086	T	0.13	.	12.6698	0.56860	0.0:0.5188:0.4812:0.0	.	339	Q96RI0	PAR4_HUMAN	M	339	ENSP00000248076:I339M	ENSP00000248076:I339M	I	+	3	3	F2RL3	16862291	0.665000	0.27466	0.838000	0.33150	0.123000	0.20343	-0.160000	0.10041	0.167000	0.19631	0.491000	0.48974	ATC	F2RL3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.657	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL3	HGNC	protein_coding	OTTHUMT00000462875.1	C			17001291	+1	no_errors	ENST00000248076	ensembl	human	known	70_37	missense	SNP	0.998	G
SUPT20H	55578	genome.wustl.edu	37	13	37614596	37614596	+	Splice_Site	SNP	C	C	A	rs373195984		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr13:37614596C>A	ENST00000350612.6	-	9	734		c.e9-1		SUPT20H_ENST00000470359.2_Splice_Site|SUPT20H_ENST00000356185.3_Splice_Site|SUPT20H_ENST00000360252.4_Splice_Site|SUPT20H_ENST00000475892.1_Splice_Site|SUPT20H_ENST00000464744.1_Splice_Site|SUPT20H_ENST00000542180.1_Splice_Site	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)						autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										AAATTAAAGTCTAGAAGAAAT	0.259																																																	0								C	,	0,4390		0,0,2195	32.0	36.0	35.0		,	5.9	1.0	13		35	1,8583	1.2+/-3.3	0,1,4291	no	splice-3,splice-3	FAM48A	NM_001014286.2,NM_017569.3	,	0,1,6486	AA,AC,CC		0.0116,0.0,0.0077	,	,	37614596	1,12973	2195	4292	6487	SO:0001630	splice_region_variant	55578			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.514-1G>T	13.37:g.37614596C>A			E7ER46|Q71RF3|Q9Y6A6	Splice_Site	SNP	-	e8-1	ENST00000350612.6	37	c.514-1	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132708	0.77662	0.0	1.16E-4	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180;ENST00000497318	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3129	0.98645	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM48A	36512596	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.028000	0.70889	2.800000	0.96347	0.650000	0.86243	.	FAM48A	-	-		0.259	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM48A	HGNC	protein_coding	OTTHUMT00000354766.1	C	NM_017569	Intron	37614596	-1	no_errors	ENST00000350612	ensembl	human	known	70_37	splice_site	SNP	1.000	A
SUPT20H	55578	genome.wustl.edu	37	13	37614596	37614596	+	Splice_Site	SNP	C	C	A	rs373195984		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr13:37614596C>A	ENST00000350612.6	-	9	734		c.e9-1		SUPT20H_ENST00000470359.2_Splice_Site|SUPT20H_ENST00000356185.3_Splice_Site|SUPT20H_ENST00000360252.4_Splice_Site|SUPT20H_ENST00000475892.1_Splice_Site|SUPT20H_ENST00000464744.1_Splice_Site|SUPT20H_ENST00000542180.1_Splice_Site	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)						autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										AAATTAAAGTCTAGAAGAAAT	0.259																																																	0								C	,	0,4390		0,0,2195	32.0	36.0	35.0		,	5.9	1.0	13		35	1,8583	1.2+/-3.3	0,1,4291	no	splice-3,splice-3	FAM48A	NM_001014286.2,NM_017569.3	,	0,1,6486	AA,AC,CC		0.0116,0.0,0.0077	,	,	37614596	1,12973	2195	4292	6487	SO:0001630	splice_region_variant	55578			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.514-1G>T	13.37:g.37614596C>A			E7ER46|Q71RF3|Q9Y6A6	Splice_Site	SNP	-	e8-1	ENST00000350612.6	37	c.514-1	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132708	0.77662	0.0	1.16E-4	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180;ENST00000497318	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3129	0.98645	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM48A	36512596	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.028000	0.70889	2.800000	0.96347	0.650000	0.86243	.	FAM48A	-	-		0.259	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM48A	HGNC	protein_coding	OTTHUMT00000354766.1	C	NM_017569	Intron	37614596	-1	no_errors	ENST00000350612	ensembl	human	known	70_37	splice_site	SNP	1.000	A
FBXO3	26273	genome.wustl.edu	37	11	33795773	33795773	+	Intron	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr11:33795773C>T	ENST00000265651.3	-	1	123				FBXO3_ENST00000526785.1_5'UTR|RP11-646J21.5_ENST00000530352.1_RNA|FBXO3_ENST00000533103.1_5'UTR|FBXO3_ENST00000534136.1_Intron|FBXO3_ENST00000448981.2_Intron|RP11-646J21.5_ENST00000533046.1_RNA|RP11-646J21.6_ENST00000528779.1_RNA|FBXO3_ENST00000530401.1_Intron	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TTTCCGCCCCCGTCTCGCCCC	0.697																																																	0																																										SO:0001627	intron_variant	26273			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.104+166G>A	11.37:g.33795773C>T			B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	RNA	SNP	-	NULL	ENST00000265651.3	37	NULL	CCDS7887.1	11																																																																																			FBXO3	-	-		0.697	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO3	HGNC	protein_coding	OTTHUMT00000388665.1	C	NM_012175		33795773	-1	no_errors	ENST00000533103	ensembl	human	known	70_37	rna	SNP	0.000	T
LOC400867	400867	genome.wustl.edu	37	21	40251736	40251736	+	lincRNA	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr21:40251736T>C	ENST00000380931.2	-	0	1301																											TTCAATTGTATTCATTTCCAA	0.308																																																	0																																												0																															21.37:g.40251736T>C				RNA	SNP	-	NULL	ENST00000380931.2	37	NULL		21																																																																																			AF064858.6	-	-		0.308	AF064858.6-001	KNOWN	basic	lincRNA	FLJ45139	Clone_based_vega_gene	lincRNA	OTTHUMT00000141410.2	T			40251736	-1	no_errors	ENST00000380931	ensembl	human	known	70_37	rna	SNP	0.000	C
GALK1	2584	genome.wustl.edu	37	17	73754155	73754155	+	Silent	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:73754155G>T	ENST00000588479.1	-	8	1735	c.1161C>A	c.(1159-1161)gcC>gcA	p.A387A	GALK1_ENST00000225614.2_Silent_p.A387A|GALK1_ENST00000437911.1_Silent_p.A417A			P51570	GALK1_HUMAN	galactokinase 1	387					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAGCACCTTGGCTCCATCGG	0.667																																																	0													45.0	42.0	43.0					17																	73754155		2202	4299	6501	SO:0001819	synonymous_variant	2584				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.1161C>A	17.37:g.73754155G>T			B2RC07|B4E1G6	Silent	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase	p.A417	ENST00000588479.1	37	c.1251	CCDS11728.1	17																																																																																			GALK1	-	pirsf_Galactokinase		0.667	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	GALK1	HGNC	protein_coding	OTTHUMT00000448430.1	G			73754155	-1	no_errors	ENST00000437911	ensembl	human	known	70_37	silent	SNP	0.998	T
GID8	54994	genome.wustl.edu	37	20	61574475	61574475	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr20:61574475G>C	ENST00000266069.3	+	3	402	c.255G>C	c.(253-255)ttG>ttC	p.L85F		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	85	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cell junction (GO:0030054)|nucleus (GO:0005634)											CCATCGCCTTGATCAACAGCC	0.458																																																	0													121.0	106.0	111.0					20																	61574475		2203	4300	6503	SO:0001583	missense	54994			AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.255G>C	20.37:g.61574475G>C	ENSP00000266069:p.Leu85Phe		E1P5I3|Q8N5M5	Missense_Mutation	SNP	pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.L85F	ENST00000266069.3	37	c.255	CCDS13510.1	20	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810858	0.50421	.	.	ENSG00000101193	ENST00000266069	.	.	.	5.82	0.104	0.14531	CTLH, C-terminal LisH motif (2);	0.059511	0.64402	D	0.000010	T	0.76849	0.4045	M	0.87547	2.89	0.58432	D	0.999999	D	0.63046	0.992	D	0.71414	0.973	T	0.75309	-0.3363	9	0.62326	D	0.03	-16.2099	9.1531	0.36976	0.1634:0.3982:0.4385:0.0	.	85	Q9NWU2	CT011_HUMAN	F	85	.	ENSP00000266069:L85F	L	+	3	2	C20orf11	61044920	0.997000	0.39634	0.110000	0.21437	0.555000	0.35460	0.370000	0.20433	-0.162000	0.10964	-0.291000	0.09656	TTG	GID8	-	smart_CTLH_C,pfscan_CTLH_C		0.458	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID8	HGNC	protein_coding	OTTHUMT00000080097.2	G	NM_017896		61574475	+1	no_errors	ENST00000266069	ensembl	human	known	70_37	missense	SNP	0.974	C
GID8	54994	genome.wustl.edu	37	20	61574475	61574475	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr20:61574475G>C	ENST00000266069.3	+	3	402	c.255G>C	c.(253-255)ttG>ttC	p.L85F		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	85	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cell junction (GO:0030054)|nucleus (GO:0005634)											CCATCGCCTTGATCAACAGCC	0.458																																																	0													121.0	106.0	111.0					20																	61574475		2203	4300	6503	SO:0001583	missense	54994			AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.255G>C	20.37:g.61574475G>C	ENSP00000266069:p.Leu85Phe		E1P5I3|Q8N5M5	Missense_Mutation	SNP	pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.L85F	ENST00000266069.3	37	c.255	CCDS13510.1	20	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810858	0.50421	.	.	ENSG00000101193	ENST00000266069	.	.	.	5.82	0.104	0.14531	CTLH, C-terminal LisH motif (2);	0.059511	0.64402	D	0.000010	T	0.76849	0.4045	M	0.87547	2.89	0.58432	D	0.999999	D	0.63046	0.992	D	0.71414	0.973	T	0.75309	-0.3363	9	0.62326	D	0.03	-16.2099	9.1531	0.36976	0.1634:0.3982:0.4385:0.0	.	85	Q9NWU2	CT011_HUMAN	F	85	.	ENSP00000266069:L85F	L	+	3	2	C20orf11	61044920	0.997000	0.39634	0.110000	0.21437	0.555000	0.35460	0.370000	0.20433	-0.162000	0.10964	-0.291000	0.09656	TTG	GID8	-	smart_CTLH_C,pfscan_CTLH_C		0.458	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID8	HGNC	protein_coding	OTTHUMT00000080097.2	G	NM_017896		61574475	+1	no_errors	ENST00000266069	ensembl	human	known	70_37	missense	SNP	0.974	C
GPHN	10243	genome.wustl.edu	37	14	66976012	66976012	+	Intron	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr14:66976012C>G	ENST00000315266.5	+	1	1185				GPHN_ENST00000305960.9_Intron|GPHN_ENST00000543237.1_Intron|GPHN_ENST00000459628.1_Intron|RP11-72M17.1_ENST00000556874.1_lincRNA|GPHN_ENST00000478722.1_Intron	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin						establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGGCTGCAGCCTGCTGCCGGG	0.632			T	MLL	AL																																			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0																																										SO:0001627	intron_variant	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.64+703C>G	14.37:g.66976012C>G			Q9H4E9|Q9P2G2	RNA	SNP	-	NULL	ENST00000315266.5	37	NULL	CCDS32103.1	14																																																																																			GPHN	-	-		0.632	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPHN	HGNC	protein_coding	OTTHUMT00000074299.2	C	NM_020806		66976012	+1	no_errors	ENST00000556020	ensembl	human	known	70_37	rna	SNP	0.001	G
GRIK1	2897	genome.wustl.edu	37	21	30953833	30953833	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr21:30953833G>T	ENST00000399907.1	-	13	2235	c.1824C>A	c.(1822-1824)caC>caA	p.H608Q	GRIK1_ENST00000327783.4_Missense_Mutation_p.H608Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.H593Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.H593Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.H608Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.H610Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.H610Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.H608Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.H593Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	608					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GGTTGCATGGGTGGGGGTTAT	0.443																																																	0													90.0	86.0	87.0					21																	30953833		2203	4299	6502	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1824C>A	21.37:g.30953833G>T	ENSP00000382791:p.His608Gln		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.H610Q	ENST00000399907.1	37	c.1830	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803471	0.90623	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	5.5	5.5	0.81552	Ionotropic glutamate receptor (2);	0.043430	0.85682	D	0.000000	D	0.98343	0.9450	M	0.78344	2.41	0.80722	D	1	D;D;P;D;P	0.56968	0.978;0.978;0.85;0.962;0.953	D;D;P;D;D	0.69142	0.962;0.962;0.869;0.94;0.937	D	0.98900	1.0776	10	0.72032	D	0.01	.	19.1941	0.93679	0.0:0.0:1.0:0.0	.	593;608;593;608;593	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	Q	608;593;608;593;610;469;608;608;593;610	ENSP00000327687:H608Q;ENSP00000373777:H593Q;ENSP00000382797:H608Q;ENSP00000382798:H593Q;ENSP00000446326:H610Q;ENSP00000373776:H608Q;ENSP00000382791:H608Q;ENSP00000382793:H593Q;ENSP00000311646:H610Q	ENSP00000311646:H610Q	H	-	3	2	GRIK1	29875704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.693000	0.61753	2.854000	0.98071	0.655000	0.94253	CAC	GRIK1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.443	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	G			30953833	-1	no_errors	ENST00000535441	ensembl	human	known	70_37	missense	SNP	1.000	T
GRIK1	2897	genome.wustl.edu	37	21	30953833	30953833	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr21:30953833G>T	ENST00000399907.1	-	13	2235	c.1824C>A	c.(1822-1824)caC>caA	p.H608Q	GRIK1_ENST00000327783.4_Missense_Mutation_p.H608Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.H593Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.H593Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.H608Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.H610Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.H610Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.H608Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.H593Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	608					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GGTTGCATGGGTGGGGGTTAT	0.443																																																	0													90.0	86.0	87.0					21																	30953833		2203	4299	6502	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1824C>A	21.37:g.30953833G>T	ENSP00000382791:p.His608Gln		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.H610Q	ENST00000399907.1	37	c.1830	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803471	0.90623	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	5.5	5.5	0.81552	Ionotropic glutamate receptor (2);	0.043430	0.85682	D	0.000000	D	0.98343	0.9450	M	0.78344	2.41	0.80722	D	1	D;D;P;D;P	0.56968	0.978;0.978;0.85;0.962;0.953	D;D;P;D;D	0.69142	0.962;0.962;0.869;0.94;0.937	D	0.98900	1.0776	10	0.72032	D	0.01	.	19.1941	0.93679	0.0:0.0:1.0:0.0	.	593;608;593;608;593	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	Q	608;593;608;593;610;469;608;608;593;610	ENSP00000327687:H608Q;ENSP00000373777:H593Q;ENSP00000382797:H608Q;ENSP00000382798:H593Q;ENSP00000446326:H610Q;ENSP00000373776:H608Q;ENSP00000382791:H608Q;ENSP00000382793:H593Q;ENSP00000311646:H610Q	ENSP00000311646:H610Q	H	-	3	2	GRIK1	29875704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.693000	0.61753	2.854000	0.98071	0.655000	0.94253	CAC	GRIK1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.443	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	G			30953833	-1	no_errors	ENST00000535441	ensembl	human	known	70_37	missense	SNP	1.000	T
HIST1H4E	8367	genome.wustl.edu	37	6	26205164	26205164	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:26205164C>G	ENST00000360441.4	+	1	307	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	98					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGGACGCACTCTTTACGGCTT	0.532																																																	0													119.0	102.0	108.0					6																	26205164		2203	4300	6503	SO:0001583	missense	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.292C>G	6.37:g.26205164C>G	ENSP00000353624:p.Leu98Val		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L98V	ENST00000360441.4	37	c.292	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	11.08	1.532825	0.27387	.	.	ENSG00000198518	ENST00000360441	.	.	.	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000003	T	0.64091	0.2567	.	.	.	0.53688	D	0.99997	.	.	.	.	.	.	T	0.70835	-0.4764	6	0.87932	D	0	.	12.403	0.55424	0.0:1.0:0.0:0.0	.	.	.	.	V	98	.	ENSP00000353624:L98V	L	+	1	0	HIST1H4E	26313143	1.000000	0.71417	0.120000	0.21714	0.003000	0.03518	5.602000	0.67612	1.521000	0.48983	0.655000	0.94253	CTT	HIST1H4E	-	superfamily_Histone-fold,prints_Histone_H4		0.532	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	C	NM_003545		26205164	+1	no_errors	ENST00000360441	ensembl	human	known	70_37	missense	SNP	1.000	G
HIST1H4E	8367	genome.wustl.edu	37	6	26205164	26205164	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:26205164C>G	ENST00000360441.4	+	1	307	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	98					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGGACGCACTCTTTACGGCTT	0.532																																																	0													119.0	102.0	108.0					6																	26205164		2203	4300	6503	SO:0001583	missense	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.292C>G	6.37:g.26205164C>G	ENSP00000353624:p.Leu98Val		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L98V	ENST00000360441.4	37	c.292	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	11.08	1.532825	0.27387	.	.	ENSG00000198518	ENST00000360441	.	.	.	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000003	T	0.64091	0.2567	.	.	.	0.53688	D	0.99997	.	.	.	.	.	.	T	0.70835	-0.4764	6	0.87932	D	0	.	12.403	0.55424	0.0:1.0:0.0:0.0	.	.	.	.	V	98	.	ENSP00000353624:L98V	L	+	1	0	HIST1H4E	26313143	1.000000	0.71417	0.120000	0.21714	0.003000	0.03518	5.602000	0.67612	1.521000	0.48983	0.655000	0.94253	CTT	HIST1H4E	-	superfamily_Histone-fold,prints_Histone_H4		0.532	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	C	NM_003545		26205164	+1	no_errors	ENST00000360441	ensembl	human	known	70_37	missense	SNP	1.000	G
HIST1H2AI	8329	genome.wustl.edu	37	6	27776279	27776279	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:27776279C>A	ENST00000358739.3	+	1	381	c.292C>A	c.(292-294)Ctg>Atg	p.L98M	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	98						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						CAACAAGCTTCTGGGCAAAGT	0.617																																																	0													56.0	54.0	55.0					6																	27776279		2203	4296	6499	SO:0001583	missense	8329			Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"""Histones / Replication-dependent"""	4725	protein-coding gene	gene with protein product		602787	"""H2A histone family, member C"", ""histone 1, H2ai"""	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.292C>A	6.37:g.27776279C>A	ENSP00000351589:p.Leu98Met		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L98M	ENST00000358739.3	37	c.292	CCDS4626.1	6	.	.	.	.	.	.	.	.	.	.	.	12.43	1.935489	0.34189	.	.	ENSG00000196747	ENST00000358739	T	0.51325	0.71	4.57	3.7	0.42460	.	0.000000	0.32041	N	0.006671	T	0.40322	0.1112	.	.	.	0.30602	N	0.760462	.	.	.	.	.	.	T	0.35674	-0.9779	7	0.59425	D	0.04	.	12.4159	0.55494	0.0:0.9163:0.0:0.0837	.	.	.	.	M	98	ENSP00000351589:L98M	ENSP00000351589:L98M	L	+	1	2	HIST1H2AI	27884258	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	3.497000	0.53295	1.226000	0.43582	0.561000	0.74099	CTG	HIST1H2AI	-	superfamily_Histone-fold,smart_Histone_H2A		0.617	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AI	HGNC	protein_coding	OTTHUMT00000040152.1	C	NM_003509		27776279	+1	no_errors	ENST00000358739	ensembl	human	known	70_37	missense	SNP	1.000	A
HIST1H2AI	8329	genome.wustl.edu	37	6	27776279	27776279	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:27776279C>A	ENST00000358739.3	+	1	381	c.292C>A	c.(292-294)Ctg>Atg	p.L98M	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	98						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						CAACAAGCTTCTGGGCAAAGT	0.617																																																	0													56.0	54.0	55.0					6																	27776279		2203	4296	6499	SO:0001583	missense	8329			Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"""Histones / Replication-dependent"""	4725	protein-coding gene	gene with protein product		602787	"""H2A histone family, member C"", ""histone 1, H2ai"""	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.292C>A	6.37:g.27776279C>A	ENSP00000351589:p.Leu98Met		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L98M	ENST00000358739.3	37	c.292	CCDS4626.1	6	.	.	.	.	.	.	.	.	.	.	.	12.43	1.935489	0.34189	.	.	ENSG00000196747	ENST00000358739	T	0.51325	0.71	4.57	3.7	0.42460	.	0.000000	0.32041	N	0.006671	T	0.40322	0.1112	.	.	.	0.30602	N	0.760462	.	.	.	.	.	.	T	0.35674	-0.9779	7	0.59425	D	0.04	.	12.4159	0.55494	0.0:0.9163:0.0:0.0837	.	.	.	.	M	98	ENSP00000351589:L98M	ENSP00000351589:L98M	L	+	1	2	HIST1H2AI	27884258	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	3.497000	0.53295	1.226000	0.43582	0.561000	0.74099	CTG	HIST1H2AI	-	superfamily_Histone-fold,smart_Histone_H2A		0.617	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AI	HGNC	protein_coding	OTTHUMT00000040152.1	C	NM_003509		27776279	+1	no_errors	ENST00000358739	ensembl	human	known	70_37	missense	SNP	1.000	A
HLA-DQA1	3117	genome.wustl.edu	37	6	32606730	32606731	+	Intron	INS	-	-	G	rs9282021|rs376763666		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:32606730_32606731insG	ENST00000343139.5	+	1	184				HLA-DQA1_ENST00000374949.2_Intron|HLA-DQA1_ENST00000395363.1_Intron	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGATGGACAGTGGGTTTGTAAA	0.431																																																	0																																										SO:0001627	intron_variant	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.82+1413->G	6.37:g.32606733_32606733dupG			O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Frame_Shift_Ins	INS	NULL	p.V43fs	ENST00000343139.5	37	c.124_125	CCDS4752.1	6																																																																																			HLA-DQA1	-	NULL		0.431	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DQA1	HGNC	protein_coding	OTTHUMT00000076176.3	-	NM_002122		32606731	+1	no_errors	ENST00000482745	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	G
HNRNPA1	3178	genome.wustl.edu	37	12	54680837	54680838	+	IGR	INS	-	-	G	rs200425263		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr12:54680837_54680838insG	ENST00000340913.6	+	0	1842				HNRNPA1_ENST00000546500.1_3'UTR|HNRNPA1_ENST00000551803.1_3'UTR|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1						cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTTTGTGAATGGGTTTTTTTT	0.356																																					Colon(83;502 1289 8436 16406 24870)												0																																										SO:0001628	intergenic_variant	3178			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651			12.37:g.54680840_54680840dupG			A8K4Z8|Q3MIB7|Q6PJZ7	RNA	INS	-	NULL	ENST00000340913.6	37	NULL	CCDS44909.1	12																																																																																			HNRNPA1	-	-		0.356	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	HNRNPA1	HGNC	protein_coding	OTTHUMT00000405480.1	-	NM_031157		54680838	+1	no_errors	ENST00000551803	ensembl	human	known	70_37	rna	INS	0.991:0.309	G
MCMBP	79892	genome.wustl.edu	37	10	121586539	121586539	+	IGR	SNP	A	A	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:121586539A>T	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Silent_p.V272V|INPP5F_ENST00000361976.2_Silent_p.V882V	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TAGAGAGTGTAGGGCCAATAG	0.453																																																	0													162.0	134.0	143.0					10																	121586539		2203	4300	6503	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586539A>T			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.V882	ENST00000360003.3	37	c.2646	CCDS7617.1	10																																																																																			INPP5F	-	NULL		0.453	MCMBP-002	KNOWN	basic|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050684.1	A	NM_024834		121586539	+1	no_errors	ENST00000361976	ensembl	human	known	70_37	silent	SNP	0.241	T
MCMBP	79892	genome.wustl.edu	37	10	121586539	121586539	+	IGR	SNP	A	A	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:121586539A>T	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Silent_p.V272V|INPP5F_ENST00000361976.2_Silent_p.V882V	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TAGAGAGTGTAGGGCCAATAG	0.453																																																	0													162.0	134.0	143.0					10																	121586539		2203	4300	6503	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586539A>T			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.V882	ENST00000360003.3	37	c.2646	CCDS7617.1	10																																																																																			INPP5F	-	NULL		0.453	MCMBP-002	KNOWN	basic|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050684.1	A	NM_024834		121586539	+1	no_errors	ENST00000361976	ensembl	human	known	70_37	silent	SNP	0.241	T
INTS6-AS1	100507398	genome.wustl.edu	37	13	52042358	52042358	+	RNA	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr13:52042358C>T	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|RN7SL320P_ENST00000484133.2_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000594488.1_RNA					INTS6 antisense RNA 1																		TCCCCATGGtcatttaatcta	0.383																																																	0																																												100507398			AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52042358C>T				RNA	SNP	-	NULL	ENST00000594959.1	37	NULL		13																																																																																			INTS6-AS1	-	-		0.383	INTS6-AS1-006	KNOWN	basic	antisense	INTS6-AS1	HGNC	antisense	OTTHUMT00000462289.1	C			52042358	+1	no_errors	ENST00000601572	ensembl	human	known	70_37	rna	SNP	0.000	T
IVL	3713	genome.wustl.edu	37	1	152883056	152883056	+	Silent	SNP	A	A	G	rs45609438	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:152883056A>G	ENST00000368764.3	+	2	847	c.783A>G	c.(781-783)ggA>ggG	p.G261G	IVL_ENST00000392667.2_Silent_p.G115G			P07476	INVO_HUMAN	involucrin	261	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcaggagggacagctgaagc	0.657																																																	0																																										SO:0001819	synonymous_variant	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.783A>G	1.37:g.152883056A>G			Q5T7P4	Silent	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.G261	ENST00000368764.3	37	c.783	CCDS1030.1	1																																																																																			IVL	-	pfam_Involucrin_rpt		0.657	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	A	NM_005547		152883056	+1	no_errors	ENST00000368764	ensembl	human	known	70_37	silent	SNP	0.006	G
KANSL1	284058	genome.wustl.edu	37	17	44115926	44115926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:44115926G>T	ENST00000262419.6	-	10	2989	c.2519C>A	c.(2518-2520)tCa>tAa	p.S840*	RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.S840*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.S134*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.S840*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.S777*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.S840*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	840					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGTAACCTGTGAGCTAGAGCT	0.602																																																	0													97.0	85.0	89.0					17																	44115926		2203	4300	6503	SO:0001587	stop_gained	284058			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2519C>A	17.37:g.44115926G>T	ENSP00000262419:p.Ser840*		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	NULL	p.S840*	ENST00000262419.6	37	c.2519	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	52	19.855660	0.99924	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	.	.	.	6.03	6.03	0.97812	.	0.550372	0.20679	N	0.087686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7421	17.2897	0.87152	0.0:0.0:1.0:0.0	.	.	.	.	X	840;840;134	.	ENSP00000262419:S840X	S	-	2	0	KIAA1267	41471773	1.000000	0.71417	0.987000	0.45799	0.271000	0.26615	5.561000	0.67339	2.861000	0.98227	0.655000	0.94253	TCA	KANSL1	-	NULL		0.602	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	G	NM_015443		44115926	-1	no_errors	ENST00000262419	ensembl	human	known	70_37	nonsense	SNP	0.989	T
KANSL1	284058	genome.wustl.edu	37	17	44115926	44115926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:44115926G>T	ENST00000262419.6	-	10	2989	c.2519C>A	c.(2518-2520)tCa>tAa	p.S840*	RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.S840*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.S134*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.S840*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.S777*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.S840*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	840					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGTAACCTGTGAGCTAGAGCT	0.602																																																	0													97.0	85.0	89.0					17																	44115926		2203	4300	6503	SO:0001587	stop_gained	284058			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2519C>A	17.37:g.44115926G>T	ENSP00000262419:p.Ser840*		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	NULL	p.S840*	ENST00000262419.6	37	c.2519	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	52	19.855660	0.99924	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	.	.	.	6.03	6.03	0.97812	.	0.550372	0.20679	N	0.087686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7421	17.2897	0.87152	0.0:0.0:1.0:0.0	.	.	.	.	X	840;840;134	.	ENSP00000262419:S840X	S	-	2	0	KIAA1267	41471773	1.000000	0.71417	0.987000	0.45799	0.271000	0.26615	5.561000	0.67339	2.861000	0.98227	0.655000	0.94253	TCA	KANSL1	-	NULL		0.602	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	G	NM_015443		44115926	-1	no_errors	ENST00000262419	ensembl	human	known	70_37	nonsense	SNP	0.989	T
KCTD18	130535	genome.wustl.edu	37	2	201371660	201371660	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:201371660C>T	ENST00000359878.3	-	2	590	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	KCTD18_ENST00000409157.1_Missense_Mutation_p.R27Q|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	27	BTB.				protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CAAGGACTCCCGCCGGGCTGT	0.502																																																	0													74.0	84.0	81.0					2																	201371660		2203	4300	6503	SO:0001583	missense	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.80G>A	2.37:g.201371660C>T	ENSP00000352941:p.Arg27Gln		Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.R27Q	ENST00000359878.3	37	c.80	CCDS2330.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.452569	0.96223	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.76060	-0.99;-0.99	5.46	5.46	0.80206	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000008	D	0.86439	0.5933	M	0.74881	2.28	0.46586	D	0.999114	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.86079	0.1543	10	0.52906	T	0.07	-19.8932	19.1052	0.93291	0.0:1.0:0.0:0.0	.	27;27	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	Q	27	ENSP00000352941:R27Q;ENSP00000386751:R27Q	ENSP00000352941:R27Q	R	-	2	0	KCTD18	201079905	0.972000	0.33761	0.979000	0.43373	0.994000	0.84299	2.422000	0.44696	2.840000	0.97914	0.655000	0.94253	CGG	KCTD18	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold		0.502	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD18	HGNC	protein_coding	OTTHUMT00000256188.1	C	NM_152387		201371660	-1	no_errors	ENST00000359878	ensembl	human	known	70_37	missense	SNP	0.999	T
KCTD18	130535	genome.wustl.edu	37	2	201371660	201371660	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:201371660C>T	ENST00000359878.3	-	2	590	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	KCTD18_ENST00000409157.1_Missense_Mutation_p.R27Q|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	27	BTB.				protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CAAGGACTCCCGCCGGGCTGT	0.502																																																	0													74.0	84.0	81.0					2																	201371660		2203	4300	6503	SO:0001583	missense	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.80G>A	2.37:g.201371660C>T	ENSP00000352941:p.Arg27Gln		Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.R27Q	ENST00000359878.3	37	c.80	CCDS2330.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.452569	0.96223	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.76060	-0.99;-0.99	5.46	5.46	0.80206	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000008	D	0.86439	0.5933	M	0.74881	2.28	0.46586	D	0.999114	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.86079	0.1543	10	0.52906	T	0.07	-19.8932	19.1052	0.93291	0.0:1.0:0.0:0.0	.	27;27	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	Q	27	ENSP00000352941:R27Q;ENSP00000386751:R27Q	ENSP00000352941:R27Q	R	-	2	0	KCTD18	201079905	0.972000	0.33761	0.979000	0.43373	0.994000	0.84299	2.422000	0.44696	2.840000	0.97914	0.655000	0.94253	CGG	KCTD18	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold		0.502	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD18	HGNC	protein_coding	OTTHUMT00000256188.1	C	NM_152387		201371660	-1	no_errors	ENST00000359878	ensembl	human	known	70_37	missense	SNP	0.999	T
KIAA0430	9665	genome.wustl.edu	37	16	15704957	15704957	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr16:15704957G>C	ENST00000396368.3	-	19	3832	c.3626C>G	c.(3625-3627)tCa>tGa	p.S1209*	KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.S1206*|KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.S811*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.S1206*|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.S1209*|KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.S1044*|CTB-193M12.1_ENST00000549756.1_RNA	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1209	HTH OST-type 4. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCAGTCCTTTGAGAAACACCT	0.458																																																	0													140.0	127.0	131.0					16																	15704957		1907	4128	6035	SO:0001587	stop_gained	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3626C>G	16.37:g.15704957G>C	ENSP00000379654:p.Ser1209*		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Nonsense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.S1209*	ENST00000396368.3	37	c.3626	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	43	10.274573	0.99373	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.2749	0.90080	0.0:0.0:1.0:0.0	.	.	.	.	X	1209;1044;1149;811;1206;1209;989	.	ENSP00000315718:S1149X	S	-	2	0	KIAA0430	15612458	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.711000	0.91396	2.555000	0.86185	0.448000	0.29417	TCA	KIAA0430	-	NULL		0.458	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15704957	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	nonsense	SNP	1.000	C
KIAA0430	9665	genome.wustl.edu	37	16	15704957	15704957	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr16:15704957G>C	ENST00000396368.3	-	19	3832	c.3626C>G	c.(3625-3627)tCa>tGa	p.S1209*	KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.S1206*|KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.S811*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.S1206*|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.S1209*|KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.S1044*|CTB-193M12.1_ENST00000549756.1_RNA	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1209	HTH OST-type 4. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCAGTCCTTTGAGAAACACCT	0.458																																																	0													140.0	127.0	131.0					16																	15704957		1907	4128	6035	SO:0001587	stop_gained	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3626C>G	16.37:g.15704957G>C	ENSP00000379654:p.Ser1209*		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Nonsense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.S1209*	ENST00000396368.3	37	c.3626	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	43	10.274573	0.99373	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.2749	0.90080	0.0:0.0:1.0:0.0	.	.	.	.	X	1209;1044;1149;811;1206;1209;989	.	ENSP00000315718:S1149X	S	-	2	0	KIAA0430	15612458	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.711000	0.91396	2.555000	0.86185	0.448000	0.29417	TCA	KIAA0430	-	NULL		0.458	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15704957	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	nonsense	SNP	1.000	C
KLHDC7A	127707	genome.wustl.edu	37	1	18809383	18809383	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:18809383C>G	ENST00000400664.1	+	1	1960	c.1908C>G	c.(1906-1908)atC>atG	p.I636M		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	636						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGGAAATCTTCGTCACCG	0.711																																																	0													20.0	22.0	21.0					1																	18809383		2201	4296	6497	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1908C>G	1.37:g.18809383C>G	ENSP00000383505:p.Ile636Met		Q8N8W6	Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.I636M	ENST00000400664.1	37	c.1908	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189999	0.38707	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.70986	-0.53	4.85	2.83	0.33086	Kelch-type beta propeller (1);	0.324238	0.28560	N	0.014908	T	0.79094	0.4388	M	0.75777	2.31	0.38136	D	0.938291	D;D	0.62365	0.991;0.991	D;D	0.63597	0.916;0.916	T	0.79764	-0.1666	10	0.48119	T	0.1	.	8.5402	0.33388	0.0:0.7583:0.1546:0.0871	.	573;636	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	M	636;573	ENSP00000383505:I636M	ENSP00000383505:I636M	I	+	3	3	KLHDC7A	18681970	0.892000	0.30473	1.000000	0.80357	0.573000	0.36030	-0.083000	0.11286	1.024000	0.39682	0.561000	0.74099	ATC	KLHDC7A	-	NULL		0.711	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	HGNC	protein_coding	OTTHUMT00000006923.3	C	NM_152375		18809383	+1	no_errors	ENST00000400664	ensembl	human	known	70_37	missense	SNP	0.998	G
KLHDC7A	127707	genome.wustl.edu	37	1	18809383	18809383	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:18809383C>G	ENST00000400664.1	+	1	1960	c.1908C>G	c.(1906-1908)atC>atG	p.I636M		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	636						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGGAAATCTTCGTCACCG	0.711																																																	0													20.0	22.0	21.0					1																	18809383		2201	4296	6497	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1908C>G	1.37:g.18809383C>G	ENSP00000383505:p.Ile636Met		Q8N8W6	Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.I636M	ENST00000400664.1	37	c.1908	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189999	0.38707	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.70986	-0.53	4.85	2.83	0.33086	Kelch-type beta propeller (1);	0.324238	0.28560	N	0.014908	T	0.79094	0.4388	M	0.75777	2.31	0.38136	D	0.938291	D;D	0.62365	0.991;0.991	D;D	0.63597	0.916;0.916	T	0.79764	-0.1666	10	0.48119	T	0.1	.	8.5402	0.33388	0.0:0.7583:0.1546:0.0871	.	573;636	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	M	636;573	ENSP00000383505:I636M	ENSP00000383505:I636M	I	+	3	3	KLHDC7A	18681970	0.892000	0.30473	1.000000	0.80357	0.573000	0.36030	-0.083000	0.11286	1.024000	0.39682	0.561000	0.74099	ATC	KLHDC7A	-	NULL		0.711	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	HGNC	protein_coding	OTTHUMT00000006923.3	C	NM_152375		18809383	+1	no_errors	ENST00000400664	ensembl	human	known	70_37	missense	SNP	0.998	G
LCMT1	51451	genome.wustl.edu	37	16	25186283	25186283	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr16:25186283G>A	ENST00000399069.3	+	10	1065	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.E249K	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	304					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	ATTCCTGGATGAAATGGAGCT	0.443																																					Colon(200;565 2072 24396 47922 50898)												0													58.0	58.0	58.0					16																	25186283		1865	4102	5967	SO:0001583	missense	51451			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.910G>A	16.37:g.25186283G>A	ENSP00000382021:p.Glu304Lys		A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1	p.E304K	ENST00000399069.3	37	c.910	CCDS45445.1	16	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834753	0.71373	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.27890	1.64;1.64	5.04	4.08	0.47627	.	0.053076	0.64402	N	0.000001	T	0.63379	0.2506	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.71148	-0.4677	10	0.87932	D	0	-15.6304	9.9226	0.41472	0.0949:0.0:0.9051:0.0	.	249;304	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	K	304;249;321	ENSP00000382021:E304K;ENSP00000370353:E249K	ENSP00000370349:E321K	E	+	1	0	LCMT1	25093784	1.000000	0.71417	0.996000	0.52242	0.524000	0.34500	7.789000	0.85783	1.268000	0.44264	-0.150000	0.13652	GAA	LCMT1	-	pirsf_Leu_CO_MeTrfase_LCTM1		0.443	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	G	NM_016309		25186283	+1	no_errors	ENST00000399069	ensembl	human	known	70_37	missense	SNP	1.000	A
LCMT1	51451	genome.wustl.edu	37	16	25186283	25186283	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr16:25186283G>A	ENST00000399069.3	+	10	1065	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.E249K	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	304					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	ATTCCTGGATGAAATGGAGCT	0.443																																					Colon(200;565 2072 24396 47922 50898)												0													58.0	58.0	58.0					16																	25186283		1865	4102	5967	SO:0001583	missense	51451			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.910G>A	16.37:g.25186283G>A	ENSP00000382021:p.Glu304Lys		A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1	p.E304K	ENST00000399069.3	37	c.910	CCDS45445.1	16	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834753	0.71373	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.27890	1.64;1.64	5.04	4.08	0.47627	.	0.053076	0.64402	N	0.000001	T	0.63379	0.2506	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.71148	-0.4677	10	0.87932	D	0	-15.6304	9.9226	0.41472	0.0949:0.0:0.9051:0.0	.	249;304	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	K	304;249;321	ENSP00000382021:E304K;ENSP00000370353:E249K	ENSP00000370349:E321K	E	+	1	0	LCMT1	25093784	1.000000	0.71417	0.996000	0.52242	0.524000	0.34500	7.789000	0.85783	1.268000	0.44264	-0.150000	0.13652	GAA	LCMT1	-	pirsf_Leu_CO_MeTrfase_LCTM1		0.443	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	G	NM_016309		25186283	+1	no_errors	ENST00000399069	ensembl	human	known	70_37	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	13	19317426	19317426	+	IGR	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr13:19317426C>T								LINC00418 (23557 upstream) : RP11-38M15.11 (116540 downstream)																							AGGTTTCATTCTGCAGAAAGC	0.522																																																	0																																										SO:0001628	intergenic_variant	100874164																															13.37:g.19317426C>T				RNA	SNP	-	NULL		37	NULL		13																																																																																			LINC00417	-	-	0	0.522					LINC00417	HGNC			C			19317426	-1	no_errors	ENST00000453176	ensembl	human	known	70_37	rna	SNP	0.025	T
LINC00489	100861522	genome.wustl.edu	37	20	36251310	36251310	+	lincRNA	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr20:36251310G>T	ENST00000457816.1	-	0	211					NR_047461.1				long intergenic non-protein coding RNA 489																		ccaatgggatgagagcagagg	0.537																																																	0																																												100861522			DB341379		20q11.23	2012-10-12			ENSG00000225759	ENSG00000225759		"""Long non-coding RNAs"""	43426	non-coding RNA	RNA, long non-coding							Standard	NR_047461		Approved		uc031rte.1		OTTHUMG00000046198		20.37:g.36251310G>T				RNA	SNP	-	NULL	ENST00000457816.1	37	NULL		20																																																																																			LINC00489	-	-		0.537	LINC00489-001	KNOWN	basic	lincRNA	LINC00489	HGNC	lincRNA	OTTHUMT00000276668.1	G			36251310	-1	no_errors	ENST00000457816	ensembl	human	known	70_37	rna	SNP	0.004	T
LINC00665	100506930	genome.wustl.edu	37	19	36803992	36803992	+	lincRNA	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:36803992G>C	ENST00000586340.1	+	0	4610																											CTTTGCCAAAGATTTAATATC	0.453																																																	0																																												100506930																															19.37:g.36803992G>C				RNA	SNP	-	NULL	ENST00000586340.1	37	NULL		19																																																																																			LINC00665	-	-		0.453	CTD-3162L10.1-005	KNOWN	basic	lincRNA	LINC00665	HGNC	lincRNA	OTTHUMT00000451982.1	G			36803992	-1	no_errors	ENST00000449434	ensembl	human	known	70_37	rna	SNP	0.018	C
LIPT2	387787	genome.wustl.edu	37	11	74204305	74204305	+	Missense_Mutation	SNP	G	G	C	rs376565466		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr11:74204305G>C	ENST00000310109.4	-	1	473	c.444C>G	c.(442-444)gaC>gaG	p.D148E	AP001372.2_ENST00000526036.1_lincRNA	NM_001144869.1	NP_001138341.1	A6NK58	LIPT2_HUMAN	lipoyl(octanoyl) transferase 2 (putative)	148	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipoate biosynthetic process (GO:0009107)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|lipoyl(octanoyl) transferase activity (GO:0033819)|octanoyltransferase activity (GO:0016415)			endometrium(1)|prostate(1)|stomach(1)	3						TCTTGCGATCGTCTAGCCAGA	0.731																																																	0													1.0	1.0	1.0					11																	74204305		204	753	957	SO:0001583	missense	387787				CCDS44679.1	11q13.4	2009-09-09			ENSG00000175536	ENSG00000175536			37216	protein-coding gene	gene with protein product							Standard	NM_001144869		Approved		uc010rrk.2	A6NK58	OTTHUMG00000165646	ENST00000310109.4:c.444C>G	11.37:g.74204305G>C	ENSP00000309463:p.Asp148Glu			Missense_Mutation	SNP	pfam_BPL_LipA_LipB,tigrfam_Octanoyltransferase	p.D148E	ENST00000310109.4	37	c.444	CCDS44679.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.86|10.86	1.470038|1.470038	0.26423|0.26423	.|.	.|.	ENSG00000175536|ENSG00000175536	ENST00000310109|ENST00000527115	D|.	0.93859|.	-3.3|.	4.37|4.37	-8.75|-8.75	0.00834|0.00834	Biotin/lipoate A/B protein ligase (1);|.	0.488542|.	0.21049|.	N|.	0.081029|.	T|T	0.14485|0.14485	0.0350|0.0350	N|N	0.12182|0.12182	0.205|0.205	0.21020|0.21020	N|N	0.999803|0.999803	B|.	0.06786|.	0.001|.	B|.	0.15484|.	0.013|.	T|T	0.21415|0.21415	-1.0246|-1.0246	10|5	0.10902|.	T|.	0.67|.	-1.5693|-1.5693	6.0075|6.0075	0.19554|0.19554	0.1623:0.5317:0.2043:0.1017|0.1623:0.5317:0.2043:0.1017	.|.	148|.	A6NK58|.	LIPT2_HUMAN|.	E|R	148|19	ENSP00000309463:D148E|.	ENSP00000309463:D148E|.	D|T	-|-	3|2	2|0	LIPT2|LIPT2	73881953|73881953	0.000000|0.000000	0.05858|0.05858	0.027000|0.027000	0.17364|0.17364	0.102000|0.102000	0.19082|0.19082	-1.488000|-1.488000	0.02308|0.02308	-1.872000|-1.872000	0.01136|0.01136	0.313000|0.313000	0.20887|0.20887	GAC|ACG	LIPT2	-	pfam_BPL_LipA_LipB,tigrfam_Octanoyltransferase		0.731	LIPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPT2	HGNC	protein_coding	OTTHUMT00000385544.1	G	NM_001144869		74204305	-1	no_errors	ENST00000310109	ensembl	human	known	70_37	missense	SNP	0.711	C
TEX41	401014	genome.wustl.edu	37	2	145832928	145832928	+	lincRNA	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:145832928C>T	ENST00000445791.1	+	0	3267					NR_033870.2				testis expressed 41 (non-protein coding)																		GAAGGGAAGGCATTCACAGTT	0.338																																																	0																																												100505498			BC043549		2q22.3	2014-02-12	2013-06-04		ENSG00000226674	ENSG00000226674		"""Long non-coding RNAs"""	48667	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 953"""						Standard	NR_033870		Approved	DKFZp686O1327, LINC00953			OTTHUMG00000153701		2.37:g.145832928C>T				RNA	SNP	-	NULL	ENST00000445791.1	37	NULL		2																																																																																			AC074093.1	-	-		0.338	TEX41-002	KNOWN	basic	lincRNA	LOC100505498	Clone_based_vega_gene	lincRNA	OTTHUMT00000332156.1	C	NR_033870		145832928	+1	no_errors	ENST00000445791	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC01541	100505776	genome.wustl.edu	37	18	69195091	69195092	+	lincRNA	INS	-	-	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr18:69195091_69195092insT	ENST00000568095.1	-	0	636_637					NR_038325.1																						gactgtaataatttttttaaac	0.366																																																	0																																												100505776																															18.37:g.69195098_69195098dupT				RNA	INS	-	NULL	ENST00000568095.1	37	NULL		18																																																																																			RP11-510D19.1	-	-		0.366	RP11-510D19.1-001	KNOWN	basic	lincRNA	LOC100505776	Clone_based_vega_gene	lincRNA	OTTHUMT00000431622.1	-			69195092	-1	no_errors	ENST00000568095	ensembl	human	known	70_37	rna	INS	0.000:0.002	T
LOC150776	150776	genome.wustl.edu	37	2	132266119	132266119	+	RNA	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:132266119G>A	ENST00000438378.2	+	0	1172					NR_026922.1																						GGTTTTTGTTGAAATGTGGCT	0.443																																																	0																																												150776																															2.37:g.132266119G>A				RNA	SNP	-	NULL	ENST00000438378.2	37	NULL		2																																																																																			AC093838.4	-	-		0.443	AC093838.4-001	KNOWN	basic	processed_transcript	LOC150776	Clone_based_vega_gene	pseudogene	OTTHUMT00000331819.7	G			132266119	+1	no_errors	ENST00000438378	ensembl	human	known	70_37	rna	SNP	1.000	A
LOC150776	150776	genome.wustl.edu	37	2	132266119	132266119	+	RNA	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:132266119G>A	ENST00000438378.2	+	0	1172					NR_026922.1																						GGTTTTTGTTGAAATGTGGCT	0.443																																																	0																																												150776																															2.37:g.132266119G>A				RNA	SNP	-	NULL	ENST00000438378.2	37	NULL		2																																																																																			AC093838.4	-	-		0.443	AC093838.4-001	KNOWN	basic	processed_transcript	LOC150776	Clone_based_vega_gene	pseudogene	OTTHUMT00000331819.7	G			132266119	+1	no_errors	ENST00000438378	ensembl	human	known	70_37	rna	SNP	1.000	A
LOC400756	400756	genome.wustl.edu	37	1	63175371	63175371	+	RNA	SNP	A	A	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:63175371A>C	ENST00000453229.1	+	0	234																											ggatcctcctacctcagcccc	0.478																																																	0																																												400756																															1.37:g.63175371A>C				RNA	SNP	-	NULL	ENST00000453229.1	37	NULL		1																																																																																			RP11-230B22.1	-	-		0.478	RP11-230B22.1-001	KNOWN	basic|exp_conf	antisense	LOC400756	Clone_based_vega_gene	antisense	OTTHUMT00000025322.1	A			63175371	+1	no_errors	ENST00000453229	ensembl	human	known	70_37	rna	SNP	0.001	C
FAM230B	642633	genome.wustl.edu	37	22	21535771	21535771	+	RNA	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr22:21535771C>T	ENST00000451257.1	+	0	545				KB-1592A4.14_ENST00000417463.1_lincRNA					family with sequence similarity 230, member B (non-protein coding)																		GAGCCATCCCCGGGTCTGCCT	0.527																																																	0																																												642633			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21535771C>T				RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			KB-1183D5.11	-	-		0.527	FAM230B-002	KNOWN	basic	lincRNA	LOC642633	Clone_based_vega_gene	processed_transcript	OTTHUMT00000320063.1	C	NR_108107		21535771	+1	no_errors	ENST00000424410	ensembl	human	known	70_37	rna	SNP	0.002	T
LINC01249	727982	genome.wustl.edu	37	2	4676488	4676488	+	lincRNA	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:4676488C>T	ENST00000412134.1	-	0	1986					NR_034134.1																						ATGACACTTTCTCCTGTTCTA	0.388																																																	0																																												727982																															2.37:g.4676488C>T				RNA	SNP	-	NULL	ENST00000412134.1	37	NULL		2																																																																																			AC022311.1	-	-		0.388	AC022311.1-001	KNOWN	basic|exp_conf	lincRNA	LOC727982	Clone_based_vega_gene	lincRNA	OTTHUMT00000323189.1	C			4676488	-1	no_errors	ENST00000412134	ensembl	human	known	70_37	rna	SNP	0.170	T
MAGEE1	57692	genome.wustl.edu	37	X	75649151	75649151	+	Silent	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:75649151C>A	ENST00000361470.2	+	1	1106	c.828C>A	c.(826-828)gcC>gcA	p.A276A		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	276	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGCCCGCCGCCTCTGACGGAC	0.701																																																	0													29.0	27.0	28.0					X																	75649151		2200	4298	6498	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.828C>A	X.37:g.75649151C>A			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.A276	ENST00000361470.2	37	c.828	CCDS14433.1	X																																																																																			MAGEE1	-	NULL		0.701	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	C	NM_020932		75649151	+1	no_errors	ENST00000361470	ensembl	human	known	70_37	silent	SNP	0.003	A
MAGEE1	57692	genome.wustl.edu	37	X	75649151	75649151	+	Silent	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:75649151C>A	ENST00000361470.2	+	1	1106	c.828C>A	c.(826-828)gcC>gcA	p.A276A		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	276	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGCCCGCCGCCTCTGACGGAC	0.701																																																	0													29.0	27.0	28.0					X																	75649151		2200	4298	6498	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.828C>A	X.37:g.75649151C>A			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.A276	ENST00000361470.2	37	c.828	CCDS14433.1	X																																																																																			MAGEE1	-	NULL		0.701	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	C	NM_020932		75649151	+1	no_errors	ENST00000361470	ensembl	human	known	70_37	silent	SNP	0.003	A
MAGEC2	51438	genome.wustl.edu	37	X	141291726	141291726	+	Silent	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:141291726G>C	ENST00000247452.3	-	3	395	c.48C>G	c.(46-48)tcC>tcG	p.S16S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	16					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGGTCGGGGAGTCGTTGT	0.517										HNSCC(46;0.14)																																							0													125.0	118.0	120.0					X																	141291726		2203	4300	6503	SO:0001819	synonymous_variant	51438			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.48C>G	X.37:g.141291726G>C			Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.S16	ENST00000247452.3	37	c.48	CCDS14678.1	X																																																																																			MAGEC2	-	NULL		0.517	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	G	NM_016249		141291726	-1	no_errors	ENST00000247452	ensembl	human	known	70_37	silent	SNP	0.000	C
MAGEC2	51438	genome.wustl.edu	37	X	141291726	141291726	+	Silent	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:141291726G>C	ENST00000247452.3	-	3	395	c.48C>G	c.(46-48)tcC>tcG	p.S16S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	16					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGGTCGGGGAGTCGTTGT	0.517										HNSCC(46;0.14)																																							0													125.0	118.0	120.0					X																	141291726		2203	4300	6503	SO:0001819	synonymous_variant	51438			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.48C>G	X.37:g.141291726G>C			Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.S16	ENST00000247452.3	37	c.48	CCDS14678.1	X																																																																																			MAGEC2	-	NULL		0.517	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	G	NM_016249		141291726	-1	no_errors	ENST00000247452	ensembl	human	known	70_37	silent	SNP	0.000	C
MEX3D	399664	genome.wustl.edu	37	19	1555705	1555705	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:1555705C>T	ENST00000402693.4	-	2	1812	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	AC027307.1_ENST00000410788.1_RNA|AC027307.2_ENST00000581992.1_RNA|MEX3D_ENST00000388824.6_Missense_Mutation_p.E605K	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	605					mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTCGCCCTCGGCGCACACC	0.736																																																	0													8.0	8.0	8.0					19																	1555705		2136	4196	6332	SO:0001583	missense	399664			AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.1813G>A	19.37:g.1555705C>T	ENSP00000384398:p.Glu605Lys		A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.E605K	ENST00000402693.4	37	c.1813	CCDS32865.2	19	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363909	0.82353	.	.	ENSG00000181588	ENST00000402693;ENST00000388824	T;T	0.79554	-1.28;-1.28	3.72	2.62	0.31277	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.061993	0.64402	U	0.000005	D	0.88066	0.6337	M	0.78916	2.43	0.49389	D	0.999781	D	0.89917	1.0	D	0.87578	0.998	D	0.87654	0.2530	10	0.87932	D	0	.	11.0496	0.47878	0.1872:0.8128:0.0:0.0	.	605	Q86XN8	MEX3D_HUMAN	K	605	ENSP00000384398:E605K;ENSP00000373476:E605K	ENSP00000373476:E605K	E	-	1	0	MEX3D	1506705	1.000000	0.71417	0.414000	0.26521	0.994000	0.84299	7.172000	0.77604	0.503000	0.28060	0.561000	0.74099	GAG	MEX3D	-	pfscan_Znf_RING		0.736	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MEX3D	HGNC	protein_coding	OTTHUMT00000317870.2	C	NM_203304		1555705	-1	no_errors	ENST00000388824	ensembl	human	known	70_37	missense	SNP	0.995	T
MGA	23269	genome.wustl.edu	37	15	41988737	41988737	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr15:41988737C>T	ENST00000570161.1	+	2	1529	c.1529C>T	c.(1528-1530)aCa>aTa	p.T510I	MGA_ENST00000545763.1_Missense_Mutation_p.T510I|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000219905.7_Missense_Mutation_p.T510I|MGA_ENST00000566586.1_Missense_Mutation_p.T510I|MGA_ENST00000389936.4_Missense_Mutation_p.T510I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATTTGCCTACATACATTGAA	0.378																																																	0													74.0	68.0	70.0					15																	41988737		1846	4097	5943	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1529C>T	15.37:g.41988737C>T	ENSP00000457035:p.Thr510Ile		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.T510I	ENST00000570161.1	37	c.1529	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468944	0.26335	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84070	-1.8;-1.8;-1.8	5.54	3.56	0.40772	.	1.213840	0.05890	N	0.628044	T	0.73225	0.3560	N	0.19112	0.55	0.09310	N	1	B;B	0.18166	0.026;0.001	B;B	0.21360	0.034;0.003	T	0.62374	-0.6868	10	0.87932	D	0	.	6.352	0.21381	0.0:0.6732:0.1539:0.1729	.	510;510	F5H7K2;E7ENI0	.;.	I	510	ENSP00000219905:T510I;ENSP00000374586:T510I;ENSP00000442467:T510I	ENSP00000219905:T510I	T	+	2	0	MGA	39776029	0.000000	0.05858	0.216000	0.23742	0.985000	0.73830	0.281000	0.18810	1.352000	0.45808	0.462000	0.41574	ACA	MGA	-	NULL		0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		41988737	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.002	T
MGA	23269	genome.wustl.edu	37	15	41988737	41988737	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr15:41988737C>T	ENST00000570161.1	+	2	1529	c.1529C>T	c.(1528-1530)aCa>aTa	p.T510I	MGA_ENST00000545763.1_Missense_Mutation_p.T510I|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000219905.7_Missense_Mutation_p.T510I|MGA_ENST00000566586.1_Missense_Mutation_p.T510I|MGA_ENST00000389936.4_Missense_Mutation_p.T510I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATTTGCCTACATACATTGAA	0.378																																																	0													74.0	68.0	70.0					15																	41988737		1846	4097	5943	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1529C>T	15.37:g.41988737C>T	ENSP00000457035:p.Thr510Ile		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.T510I	ENST00000570161.1	37	c.1529	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468944	0.26335	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84070	-1.8;-1.8;-1.8	5.54	3.56	0.40772	.	1.213840	0.05890	N	0.628044	T	0.73225	0.3560	N	0.19112	0.55	0.09310	N	1	B;B	0.18166	0.026;0.001	B;B	0.21360	0.034;0.003	T	0.62374	-0.6868	10	0.87932	D	0	.	6.352	0.21381	0.0:0.6732:0.1539:0.1729	.	510;510	F5H7K2;E7ENI0	.;.	I	510	ENSP00000219905:T510I;ENSP00000374586:T510I;ENSP00000442467:T510I	ENSP00000219905:T510I	T	+	2	0	MGA	39776029	0.000000	0.05858	0.216000	0.23742	0.985000	0.73830	0.281000	0.18810	1.352000	0.45808	0.462000	0.41574	ACA	MGA	-	NULL		0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		41988737	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.002	T
MOV10L1	54456	genome.wustl.edu	37	22	50582543	50582543	+	Silent	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr22:50582543G>A	ENST00000262794.5	+	18	2459	c.2376G>A	c.(2374-2376)ccG>ccA	p.P792P	MOV10L1_ENST00000540615.1_Silent_p.P772P|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.P792P|MOV10L1_ENST00000395858.3_Silent_p.P792P	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	792					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGCCTTGCCGGACAGTCGGA	0.552																																																	0													277.0	231.0	246.0					22																	50582543		2203	4300	6503	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2376G>A	22.37:g.50582543G>A			A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	superfamily_NA-bd_OB-fold-like	p.P792	ENST00000262794.5	37	c.2376	CCDS14084.1	22																																																																																			MOV10L1	-	NULL		0.552	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50582543	+1	no_errors	ENST00000262794	ensembl	human	known	70_37	silent	SNP	0.162	A
MOV10L1	54456	genome.wustl.edu	37	22	50582543	50582543	+	Silent	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr22:50582543G>A	ENST00000262794.5	+	18	2459	c.2376G>A	c.(2374-2376)ccG>ccA	p.P792P	MOV10L1_ENST00000540615.1_Silent_p.P772P|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.P792P|MOV10L1_ENST00000395858.3_Silent_p.P792P	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	792					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGCCTTGCCGGACAGTCGGA	0.552																																																	0													277.0	231.0	246.0					22																	50582543		2203	4300	6503	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2376G>A	22.37:g.50582543G>A			A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	superfamily_NA-bd_OB-fold-like	p.P792	ENST00000262794.5	37	c.2376	CCDS14084.1	22																																																																																			MOV10L1	-	NULL		0.552	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50582543	+1	no_errors	ENST00000262794	ensembl	human	known	70_37	silent	SNP	0.162	A
MT-ND5	4540	genome.wustl.edu	37	M	13445	13445	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrM:13445C>T	ENST00000361567.2	+	1	1109	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L	MT-TR_ENST00000387439.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	370					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ACCTCTCACTTCAACCTCCCT	0.428																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1109C>T	M.37:g.13445C>T	ENSP00000354813:p.Ser370Leu		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.S370L	ENST00000361567.2	37	c.1109		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5		0.428	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		C	YP_003024036		13445	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	T
MUC12	10071	genome.wustl.edu	37	7	100644059	100644059	+	Missense_Mutation	SNP	G	G	C	rs144581449	byFrequency	TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr7:100644059G>C	ENST00000379442.3	+	5	10644	c.10644G>C	c.(10642-10644)gaG>gaC	p.E3548D	MUC12_ENST00000536621.1_Missense_Mutation_p.E3405D			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3548	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						GCCGTAGTGAGGAATCAACAG	0.547																																																	0																																										SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.10644G>C	7.37:g.100644059G>C	ENSP00000368755:p.Glu3548Asp		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.E3548D	ENST00000379442.3	37	c.10644		7	.	.	.	.	.	.	.	.	.	.	g	2.123	-0.401027	0.04865	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12361	2.7;2.69	.	.	.	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.44251	-0.9340	5	0.20046	T	0.44	.	.	.	.	.	.	.	.	D	3548;3405	ENSP00000368755:E3548D;ENSP00000441929:E3405D	ENSP00000368755:E3548D	E	+	3	2	MUC12	100430779	0.000000	0.05858	0.122000	0.21767	0.121000	0.20230	-0.821000	0.04452	0.159000	0.19401	0.162000	0.16502	GAG	MUC12	-	NULL		0.547	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	G	XM_379904		100644059	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	missense	SNP	0.134	C
MUM1L1	139221	genome.wustl.edu	37	X	105451166	105451166	+	Silent	SNP	A	A	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:105451166A>C	ENST00000357175.2	+	4	2390	c.1741A>C	c.(1741-1743)Aga>Cga	p.R581R	MUM1L1_ENST00000337685.2_Silent_p.R581R|MUM1L1_ENST00000372552.1_Silent_p.R581R	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	581						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAAGGATCCAGATGGCTGAA	0.418																																																	0													48.0	42.0	44.0					X																	105451166		1868	4091	5959	SO:0001819	synonymous_variant	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1741A>C	X.37:g.105451166A>C			D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.R581	ENST00000357175.2	37	c.1741	CCDS55469.1	X																																																																																			MUM1L1	-	NULL		0.418	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	A	NM_152423		105451166	+1	no_errors	ENST00000337685	ensembl	human	known	70_37	silent	SNP	1.000	C
MUM1L1	139221	genome.wustl.edu	37	X	105451166	105451166	+	Silent	SNP	A	A	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:105451166A>C	ENST00000357175.2	+	4	2390	c.1741A>C	c.(1741-1743)Aga>Cga	p.R581R	MUM1L1_ENST00000337685.2_Silent_p.R581R|MUM1L1_ENST00000372552.1_Silent_p.R581R	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	581						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAAGGATCCAGATGGCTGAA	0.418																																																	0													48.0	42.0	44.0					X																	105451166		1868	4091	5959	SO:0001819	synonymous_variant	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1741A>C	X.37:g.105451166A>C			D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.R581	ENST00000357175.2	37	c.1741	CCDS55469.1	X																																																																																			MUM1L1	-	NULL		0.418	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	A	NM_152423		105451166	+1	no_errors	ENST00000337685	ensembl	human	known	70_37	silent	SNP	1.000	C
MYH8	4626	genome.wustl.edu	37	17	10304986	10304986	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:10304986G>C	ENST00000403437.2	-	23	2899	c.2805C>G	c.(2803-2805)atC>atG	p.I935M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	935					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTCAGCATTGATCTCTTCCT	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													376.0	358.0	364.0					17																	10304986		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2805C>G	17.37:g.10304986G>C	ENSP00000384330:p.Ile935Met		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I935M	ENST00000403437.2	37	c.2805	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.446547	0.01089	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.91124	-2.79	5.31	3.19	0.36642	.	0.161280	0.28398	N	0.015488	T	0.78246	0.4253	N	0.11255	0.115	0.34298	D	0.684043	B	0.02656	0.0	B	0.06405	0.002	T	0.74182	-0.3748	10	0.13853	T	0.58	.	10.5862	0.45284	0.0:0.3014:0.5738:0.1247	.	935	P13535	MYH8_HUMAN	M	935	ENSP00000384330:I935M	ENSP00000252173:I935M	I	-	3	3	MYH8	10245711	0.201000	0.23410	1.000000	0.80357	0.996000	0.88848	-0.480000	0.06559	1.473000	0.48159	0.591000	0.81541	ATC	MYH8	-	NULL		0.443	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10304986	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	missense	SNP	1.000	C
MYH8	4626	genome.wustl.edu	37	17	10304986	10304986	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:10304986G>C	ENST00000403437.2	-	23	2899	c.2805C>G	c.(2803-2805)atC>atG	p.I935M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	935					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTCAGCATTGATCTCTTCCT	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													376.0	358.0	364.0					17																	10304986		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2805C>G	17.37:g.10304986G>C	ENSP00000384330:p.Ile935Met		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I935M	ENST00000403437.2	37	c.2805	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.446547	0.01089	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.91124	-2.79	5.31	3.19	0.36642	.	0.161280	0.28398	N	0.015488	T	0.78246	0.4253	N	0.11255	0.115	0.34298	D	0.684043	B	0.02656	0.0	B	0.06405	0.002	T	0.74182	-0.3748	10	0.13853	T	0.58	.	10.5862	0.45284	0.0:0.3014:0.5738:0.1247	.	935	P13535	MYH8_HUMAN	M	935	ENSP00000384330:I935M	ENSP00000252173:I935M	I	-	3	3	MYH8	10245711	0.201000	0.23410	1.000000	0.80357	0.996000	0.88848	-0.480000	0.06559	1.473000	0.48159	0.591000	0.81541	ATC	MYH8	-	NULL		0.443	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10304986	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	missense	SNP	1.000	C
MYNN	55892	genome.wustl.edu	37	3	169496994	169496994	+	Silent	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:169496994C>A	ENST00000349841.5	+	3	1368	c.705C>A	c.(703-705)ctC>ctA	p.L235L	MYNN_ENST00000356716.4_Silent_p.L235L|MYNN_ENST00000544106.1_Silent_p.L235L|MYNN_ENST00000392733.1_Silent_p.L235L|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ATTCAGAACTCGAGTTGACAT	0.383																																																	0													56.0	51.0	52.0					3																	169496994		2203	4300	6503	SO:0001819	synonymous_variant	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.705C>A	3.37:g.169496994C>A			B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L235	ENST00000349841.5	37	c.705	CCDS3207.1	3																																																																																			MYNN	-	NULL		0.383	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	C	NM_018657		169496994	+1	no_errors	ENST00000349841	ensembl	human	known	70_37	silent	SNP	0.626	A
MYNN	55892	genome.wustl.edu	37	3	169496994	169496994	+	Silent	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:169496994C>A	ENST00000349841.5	+	3	1368	c.705C>A	c.(703-705)ctC>ctA	p.L235L	MYNN_ENST00000356716.4_Silent_p.L235L|MYNN_ENST00000544106.1_Silent_p.L235L|MYNN_ENST00000392733.1_Silent_p.L235L|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ATTCAGAACTCGAGTTGACAT	0.383																																																	0													56.0	51.0	52.0					3																	169496994		2203	4300	6503	SO:0001819	synonymous_variant	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.705C>A	3.37:g.169496994C>A			B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L235	ENST00000349841.5	37	c.705	CCDS3207.1	3																																																																																			MYNN	-	NULL		0.383	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	C	NM_018657		169496994	+1	no_errors	ENST00000349841	ensembl	human	known	70_37	silent	SNP	0.626	A
MYT1L	23040	genome.wustl.edu	37	2	1805482	1805482	+	Nonsense_Mutation	SNP	T	T	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:1805482T>A	ENST00000399161.2	-	23	4009	c.3262A>T	c.(3262-3264)Aaa>Taa	p.K1088*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.K1086*|MYT1L_ENST00000407844.1_Nonsense_Mutation_p.K84*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1088					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTTCTGAGTTTAATCATATCG	0.368																																																	0													218.0	217.0	218.0					2																	1805482		1822	4098	5920	SO:0001587	stop_gained	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3262A>T	2.37:g.1805482T>A	ENSP00000382114:p.Lys1088*		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.K1088*	ENST00000399161.2	37	c.3262		2	.	.	.	.	.	.	.	.	.	.	T	48	14.557640	0.99800	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	.	.	.	5.03	5.03	0.67393	.	0.043661	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.1193	14.9299	0.70906	0.0:0.0:0.0:1.0	.	.	.	.	X	1088;1034;84;142;1086	.	ENSP00000295067:K1034X	K	-	1	0	MYT1L	1784489	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	5.953000	0.70290	2.087000	0.62958	0.533000	0.62120	AAA	MYT1L	-	NULL		0.368	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	T	NM_015025		1805482	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MYT1L	23040	genome.wustl.edu	37	2	1805482	1805482	+	Nonsense_Mutation	SNP	T	T	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:1805482T>A	ENST00000399161.2	-	23	4009	c.3262A>T	c.(3262-3264)Aaa>Taa	p.K1088*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.K1086*|MYT1L_ENST00000407844.1_Nonsense_Mutation_p.K84*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1088					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTTCTGAGTTTAATCATATCG	0.368																																																	0													218.0	217.0	218.0					2																	1805482		1822	4098	5920	SO:0001587	stop_gained	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3262A>T	2.37:g.1805482T>A	ENSP00000382114:p.Lys1088*		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.K1088*	ENST00000399161.2	37	c.3262		2	.	.	.	.	.	.	.	.	.	.	T	48	14.557640	0.99800	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	.	.	.	5.03	5.03	0.67393	.	0.043661	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.1193	14.9299	0.70906	0.0:0.0:0.0:1.0	.	.	.	.	X	1088;1034;84;142;1086	.	ENSP00000295067:K1034X	K	-	1	0	MYT1L	1784489	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	5.953000	0.70290	2.087000	0.62958	0.533000	0.62120	AAA	MYT1L	-	NULL		0.368	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	T	NM_015025		1805482	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NEU2	4759	genome.wustl.edu	37	2	233899464	233899464	+	Silent	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:233899464C>T	ENST00000233840.3	+	2	840	c.840C>T	c.(838-840)ccC>ccT	p.P280P		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	280					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	TCAGCTTCCCCAGCCCCCGCT	0.672																																																	0													20.0	24.0	22.0					2																	233899464		2201	4295	6496	SO:0001819	synonymous_variant	4759			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.840C>T	2.37:g.233899464C>T			Q3KNW4|Q6NTB4	Silent	SNP	superfamily_Neuraminidase	p.P280	ENST00000233840.3	37	c.840	CCDS2501.1	2																																																																																			NEU2	-	superfamily_Neuraminidase		0.672	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU2	HGNC	protein_coding	OTTHUMT00000257053.2	C	NM_005383		233899464	+1	no_errors	ENST00000233840	ensembl	human	known	70_37	silent	SNP	0.825	T
NEU2	4759	genome.wustl.edu	37	2	233899464	233899464	+	Silent	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:233899464C>T	ENST00000233840.3	+	2	840	c.840C>T	c.(838-840)ccC>ccT	p.P280P		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	280					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	TCAGCTTCCCCAGCCCCCGCT	0.672																																																	0													20.0	24.0	22.0					2																	233899464		2201	4295	6496	SO:0001819	synonymous_variant	4759			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.840C>T	2.37:g.233899464C>T			Q3KNW4|Q6NTB4	Silent	SNP	superfamily_Neuraminidase	p.P280	ENST00000233840.3	37	c.840	CCDS2501.1	2																																																																																			NEU2	-	superfamily_Neuraminidase		0.672	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU2	HGNC	protein_coding	OTTHUMT00000257053.2	C	NM_005383		233899464	+1	no_errors	ENST00000233840	ensembl	human	known	70_37	silent	SNP	0.825	T
NPPA	4878	genome.wustl.edu	37	1	11907423	11907423	+	Missense_Mutation	SNP	G	G	A	rs150794709		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:11907423G>A	ENST00000376480.3	-	2	295	c.197C>T	c.(196-198)cCg>cTg	p.P66L	NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.P16L	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	66					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTCATTCGGCTCACTGAG	0.567																																																	0								G	LEU/PRO	0,4404		0,0,2202	43.0	50.0	47.0		197	4.7	1.0	1	dbSNP_134	47	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NPPA	NM_006172.3	98	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	benign	66/152	11907423	3,13001	2202	4300	6502	SO:0001583	missense	4878			BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.197C>T	1.37:g.11907423G>A	ENSP00000365663:p.Pro66Leu		Q13766|Q5JZE1	Missense_Mutation	SNP	pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide	p.P66L	ENST00000376480.3	37	c.197	CCDS139.1	1	.	.	.	.	.	.	.	.	.	.	g	8.584	0.883068	0.17467	0.0	3.49E-4	ENSG00000175206	ENST00000376480;ENST00000376476	T	0.42131	0.98	5.84	4.71	0.59529	.	0.441751	0.24321	N	0.039543	T	0.26593	0.0650	N	0.14661	0.345	0.28375	N	0.919816	B	0.13145	0.007	B	0.01281	0.0	T	0.18272	-1.0342	10	0.66056	D	0.02	-12.4016	10.2591	0.43416	0.0:0.0:0.167:0.833	.	66	P01160	ANF_HUMAN	L	66;16	ENSP00000365663:P66L	ENSP00000365659:P16L	P	-	2	0	NPPA	11830010	1.000000	0.71417	0.956000	0.39512	0.011000	0.07611	2.067000	0.41461	1.041000	0.40125	-0.367000	0.07326	CCG	NPPA	-	prints_Natriuretic_peptide_atrial		0.567	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPPA	HGNC	protein_coding	OTTHUMT00000006852.1	G	NM_006172		11907423	-1	no_errors	ENST00000376480	ensembl	human	known	70_37	missense	SNP	0.999	A
NPPA	4878	genome.wustl.edu	37	1	11907423	11907423	+	Missense_Mutation	SNP	G	G	A	rs150794709		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:11907423G>A	ENST00000376480.3	-	2	295	c.197C>T	c.(196-198)cCg>cTg	p.P66L	NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.P16L	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	66					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTCATTCGGCTCACTGAG	0.567																																																	0								G	LEU/PRO	0,4404		0,0,2202	43.0	50.0	47.0		197	4.7	1.0	1	dbSNP_134	47	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NPPA	NM_006172.3	98	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	benign	66/152	11907423	3,13001	2202	4300	6502	SO:0001583	missense	4878			BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.197C>T	1.37:g.11907423G>A	ENSP00000365663:p.Pro66Leu		Q13766|Q5JZE1	Missense_Mutation	SNP	pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide	p.P66L	ENST00000376480.3	37	c.197	CCDS139.1	1	.	.	.	.	.	.	.	.	.	.	g	8.584	0.883068	0.17467	0.0	3.49E-4	ENSG00000175206	ENST00000376480;ENST00000376476	T	0.42131	0.98	5.84	4.71	0.59529	.	0.441751	0.24321	N	0.039543	T	0.26593	0.0650	N	0.14661	0.345	0.28375	N	0.919816	B	0.13145	0.007	B	0.01281	0.0	T	0.18272	-1.0342	10	0.66056	D	0.02	-12.4016	10.2591	0.43416	0.0:0.0:0.167:0.833	.	66	P01160	ANF_HUMAN	L	66;16	ENSP00000365663:P66L	ENSP00000365659:P16L	P	-	2	0	NPPA	11830010	1.000000	0.71417	0.956000	0.39512	0.011000	0.07611	2.067000	0.41461	1.041000	0.40125	-0.367000	0.07326	CCG	NPPA	-	prints_Natriuretic_peptide_atrial		0.567	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPPA	HGNC	protein_coding	OTTHUMT00000006852.1	G	NM_006172		11907423	-1	no_errors	ENST00000376480	ensembl	human	known	70_37	missense	SNP	0.999	A
OLFML2A	169611	genome.wustl.edu	37	9	127570102	127570102	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:127570102C>T	ENST00000373580.3	+	7	1211	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	OLFML2A_ENST00000288815.5_Missense_Mutation_p.P190L	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	404	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCTGTGGACCCCCCTGTGAGG	0.642																																																	0													42.0	44.0	43.0					9																	127570102		2203	4300	6503	SO:0001583	missense	169611			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1211C>T	9.37:g.127570102C>T	ENSP00000362682:p.Pro404Leu		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.P404L	ENST00000373580.3	37	c.1211	CCDS6857.2	9	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403883	0.42613	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	D;D	0.88586	-2.4;-2.4	5.44	5.44	0.79542	Olfactomedin-like (3);	0.324958	0.30329	N	0.009880	D	0.84288	0.5439	L	0.40543	1.245	0.50313	D	0.999868	B;B	0.20368	0.008;0.044	B;B	0.18263	0.012;0.021	T	0.80238	-0.1465	10	0.44086	T	0.13	.	13.2466	0.60026	0.1586:0.8414:0.0:0.0	.	190;404	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	L	96;404;190	ENSP00000362682:P404L;ENSP00000288815:P190L	ENSP00000288815:P190L	P	+	2	0	OLFML2A	126609923	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.689000	0.25437	2.547000	0.85894	0.655000	0.94253	CCC	OLFML2A	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.642	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML2A	HGNC	protein_coding	OTTHUMT00000054046.2	C	NM_182487		127570102	+1	no_errors	ENST00000373580	ensembl	human	known	70_37	missense	SNP	1.000	T
OLFML2A	169611	genome.wustl.edu	37	9	127570102	127570102	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:127570102C>T	ENST00000373580.3	+	7	1211	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	OLFML2A_ENST00000288815.5_Missense_Mutation_p.P190L	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	404	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCTGTGGACCCCCCTGTGAGG	0.642																																																	0													42.0	44.0	43.0					9																	127570102		2203	4300	6503	SO:0001583	missense	169611			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1211C>T	9.37:g.127570102C>T	ENSP00000362682:p.Pro404Leu		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.P404L	ENST00000373580.3	37	c.1211	CCDS6857.2	9	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403883	0.42613	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	D;D	0.88586	-2.4;-2.4	5.44	5.44	0.79542	Olfactomedin-like (3);	0.324958	0.30329	N	0.009880	D	0.84288	0.5439	L	0.40543	1.245	0.50313	D	0.999868	B;B	0.20368	0.008;0.044	B;B	0.18263	0.012;0.021	T	0.80238	-0.1465	10	0.44086	T	0.13	.	13.2466	0.60026	0.1586:0.8414:0.0:0.0	.	190;404	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	L	96;404;190	ENSP00000362682:P404L;ENSP00000288815:P190L	ENSP00000288815:P190L	P	+	2	0	OLFML2A	126609923	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.689000	0.25437	2.547000	0.85894	0.655000	0.94253	CCC	OLFML2A	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.642	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML2A	HGNC	protein_coding	OTTHUMT00000054046.2	C	NM_182487		127570102	+1	no_errors	ENST00000373580	ensembl	human	known	70_37	missense	SNP	1.000	T
SAMD4B	55095	genome.wustl.edu	37	19	39877206	39877206	+	IGR	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:39877206G>A	ENST00000314471.6	+	0	4519				PAF1_ENST00000595564.1_Missense_Mutation_p.R357W|PAF1_ENST00000221266.7_Missense_Mutation_p.R334W|PAF1_ENST00000221265.3_Missense_Mutation_p.R367W	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGGGCCTTCCGTGCCTCCTGG	0.567																																																	0													95.0	90.0	91.0					19																	39877206		2203	4300	6503	SO:0001628	intergenic_variant	54623				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39877206G>A			A5Z0M6|Q6P194	Missense_Mutation	SNP	pfam_RNA_pol_II-assoc_Paf1	p.R367W	ENST00000314471.6	37	c.1099	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	g	20.8	4.051192	0.75960	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.67	3.41	0.39046	.	0.061993	0.64402	D	0.000003	T	0.76863	0.4047	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79247	-0.1882	9	0.56958	D	0.05	-6.4623	12.9748	0.58532	0.0:0.0:0.7083:0.2917	.	334;367	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	W	367;334	.	ENSP00000221265:R367W	R	-	1	2	PAF1	44569046	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.414000	0.52693	1.367000	0.46095	0.552000	0.68991	CGG	PAF1	-	pfam_RNA_pol_II-assoc_Paf1		0.567	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000464467.1	G	NM_018028		39877206	-1	no_errors	ENST00000221265	ensembl	human	known	70_37	missense	SNP	1.000	A
SAMD4B	55095	genome.wustl.edu	37	19	39877206	39877206	+	IGR	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:39877206G>A	ENST00000314471.6	+	0	4519				PAF1_ENST00000595564.1_Missense_Mutation_p.R357W|PAF1_ENST00000221266.7_Missense_Mutation_p.R334W|PAF1_ENST00000221265.3_Missense_Mutation_p.R367W	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGGGCCTTCCGTGCCTCCTGG	0.567																																																	0													95.0	90.0	91.0					19																	39877206		2203	4300	6503	SO:0001628	intergenic_variant	54623				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39877206G>A			A5Z0M6|Q6P194	Missense_Mutation	SNP	pfam_RNA_pol_II-assoc_Paf1	p.R367W	ENST00000314471.6	37	c.1099	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	g	20.8	4.051192	0.75960	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.67	3.41	0.39046	.	0.061993	0.64402	D	0.000003	T	0.76863	0.4047	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79247	-0.1882	9	0.56958	D	0.05	-6.4623	12.9748	0.58532	0.0:0.0:0.7083:0.2917	.	334;367	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	W	367;334	.	ENSP00000221265:R367W	R	-	1	2	PAF1	44569046	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.414000	0.52693	1.367000	0.46095	0.552000	0.68991	CGG	PAF1	-	pfam_RNA_pol_II-assoc_Paf1		0.567	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000464467.1	G	NM_018028		39877206	-1	no_errors	ENST00000221265	ensembl	human	known	70_37	missense	SNP	1.000	A
PDS5A	23244	genome.wustl.edu	37	4	39868518	39868518	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:39868518C>A	ENST00000303538.8	-	23	3144	c.2605G>T	c.(2605-2607)Gtt>Ttt	p.V869F		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CCCTCACTAACCAACATCGCT	0.403																																																	0													74.0	69.0	71.0					4																	39868518		1871	4116	5987	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2605G>T	4.37:g.39868518C>A	ENSP00000303427:p.Val869Phe			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V869F	ENST00000303538.8	37	c.2605	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294066	0.81025	.	.	ENSG00000121892	ENST00000303538	T	0.65732	-0.17	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	L	0.34521	1.04	0.80722	D	1	P	0.47545	0.897	P	0.52758	0.708	T	0.61217	-0.7107	9	.	.	.	-16.0099	19.4681	0.94951	0.0:1.0:0.0:0.0	.	869	Q29RF7	PDS5A_HUMAN	F	869	ENSP00000303427:V869F	.	V	-	1	0	PDS5A	39544913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.881000	0.63114	2.581000	0.87130	0.655000	0.94253	GTT	PDS5A	-	superfamily_ARM-type_fold		0.403	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	C	NM_015200		39868518	-1	no_errors	ENST00000303538	ensembl	human	known	70_37	missense	SNP	1.000	A
POLQ	10721	genome.wustl.edu	37	3	121186375	121186375	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:121186375G>T	ENST00000264233.5	-	24	7086	c.6958C>A	c.(6958-6960)Cct>Act	p.P2320T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2320					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTGGGAAAGGCACAAAGGCA	0.458								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													163.0	145.0	151.0					3																	121186375		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6958C>A	3.37:g.121186375G>T	ENSP00000264233:p.Pro2320Thr		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.P2320T	ENST00000264233.5	37	c.6958	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650803	0.87958	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96651	-4.08	5.8	5.8	0.92144	DNA-directed DNA polymerase, family A, palm domain (2);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.80746	2.51	0.50813	D	0.99989	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.963	D	0.98630	1.0671	10	0.72032	D	0.01	.	20.0544	0.97645	0.0:0.0:1.0:0.0	.	2320;1492	O75417;O75417-2	DPOLQ_HUMAN;.	T	1943;2320;2456	ENSP00000264233:P2320T	ENSP00000264233:P2320T	P	-	1	0	POLQ	122669065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.732000	0.91534	2.746000	0.94184	0.591000	0.81541	CCT	POLQ	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.458	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121186375	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	T
POLQ	10721	genome.wustl.edu	37	3	121186375	121186375	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:121186375G>T	ENST00000264233.5	-	24	7086	c.6958C>A	c.(6958-6960)Cct>Act	p.P2320T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2320					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTGGGAAAGGCACAAAGGCA	0.458								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													163.0	145.0	151.0					3																	121186375		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6958C>A	3.37:g.121186375G>T	ENSP00000264233:p.Pro2320Thr		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.P2320T	ENST00000264233.5	37	c.6958	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650803	0.87958	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96651	-4.08	5.8	5.8	0.92144	DNA-directed DNA polymerase, family A, palm domain (2);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.80746	2.51	0.50813	D	0.99989	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.963	D	0.98630	1.0671	10	0.72032	D	0.01	.	20.0544	0.97645	0.0:0.0:1.0:0.0	.	2320;1492	O75417;O75417-2	DPOLQ_HUMAN;.	T	1943;2320;2456	ENSP00000264233:P2320T	ENSP00000264233:P2320T	P	-	1	0	POLQ	122669065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.732000	0.91534	2.746000	0.94184	0.591000	0.81541	CCT	POLQ	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.458	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121186375	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	T
POU2F3	25833	genome.wustl.edu	37	11	120186099	120186099	+	Silent	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr11:120186099C>G	ENST00000543440.2	+	11	1248	c.1098C>G	c.(1096-1098)ctC>ctG	p.L366L	POU2F3_ENST00000260264.4_Silent_p.L368L	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	366	Ser-rich.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TGGGCCCCCTCTCTGTCCCTC	0.438																																																	0													121.0	110.0	114.0					11																	120186099		2203	4299	6502	SO:0001819	synonymous_variant	25833			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.1098C>G	11.37:g.120186099C>G			A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.L368	ENST00000543440.2	37	c.1104	CCDS8431.1	11																																																																																			POU2F3	-	NULL		0.438	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2F3	HGNC	protein_coding	OTTHUMT00000388039.2	C			120186099	+1	no_errors	ENST00000543440	ensembl	human	known	70_37	silent	SNP	1.000	G
POU2F3	25833	genome.wustl.edu	37	11	120186099	120186099	+	Silent	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr11:120186099C>G	ENST00000543440.2	+	11	1248	c.1098C>G	c.(1096-1098)ctC>ctG	p.L366L	POU2F3_ENST00000260264.4_Silent_p.L368L	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	366	Ser-rich.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TGGGCCCCCTCTCTGTCCCTC	0.438																																																	0													121.0	110.0	114.0					11																	120186099		2203	4299	6502	SO:0001819	synonymous_variant	25833			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.1098C>G	11.37:g.120186099C>G			A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.L368	ENST00000543440.2	37	c.1104	CCDS8431.1	11																																																																																			POU2F3	-	NULL		0.438	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2F3	HGNC	protein_coding	OTTHUMT00000388039.2	C			120186099	+1	no_errors	ENST00000543440	ensembl	human	known	70_37	silent	SNP	1.000	G
PRDM16	63976	genome.wustl.edu	37	1	3319365	3319365	+	Silent	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:3319365G>A	ENST00000270722.5	+	6	736	c.687G>A	c.(685-687)acG>acA	p.T229T	PRDM16_ENST00000378398.3_Silent_p.T230T|PRDM16_ENST00000378391.2_Silent_p.T229T|PRDM16_ENST00000511072.1_Silent_p.T230T|PRDM16_ENST00000442529.2_Silent_p.T229T|PRDM16_ENST00000441472.2_Silent_p.T229T|PRDM16_ENST00000514189.1_Silent_p.T230T|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	229					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGGAGCCCACGTTCCGCTGTG	0.622			T	EVI1	"""MDS, AML"""																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													47.0	54.0	51.0					1																	3319365		2098	4216	6314	SO:0001819	synonymous_variant	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.687G>A	1.37:g.3319365G>A			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.T229	ENST00000270722.5	37	c.687	CCDS41236.2	1																																																																																			PRDM16	-	NULL		0.622	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3319365	+1	no_errors	ENST00000270722	ensembl	human	known	70_37	silent	SNP	0.237	A
PRDM16	63976	genome.wustl.edu	37	1	3319365	3319365	+	Silent	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:3319365G>A	ENST00000270722.5	+	6	736	c.687G>A	c.(685-687)acG>acA	p.T229T	PRDM16_ENST00000378398.3_Silent_p.T230T|PRDM16_ENST00000378391.2_Silent_p.T229T|PRDM16_ENST00000511072.1_Silent_p.T230T|PRDM16_ENST00000442529.2_Silent_p.T229T|PRDM16_ENST00000441472.2_Silent_p.T229T|PRDM16_ENST00000514189.1_Silent_p.T230T|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	229					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGGAGCCCACGTTCCGCTGTG	0.622			T	EVI1	"""MDS, AML"""																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													47.0	54.0	51.0					1																	3319365		2098	4216	6314	SO:0001819	synonymous_variant	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.687G>A	1.37:g.3319365G>A			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.T229	ENST00000270722.5	37	c.687	CCDS41236.2	1																																																																																			PRDM16	-	NULL		0.622	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3319365	+1	no_errors	ENST00000270722	ensembl	human	known	70_37	silent	SNP	0.237	A
PRG4	10216	genome.wustl.edu	37	1	186275501	186275501	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:186275501C>A	ENST00000445192.2	+	7	695	c.650C>A	c.(649-651)cCa>cAa	p.P217Q	PRG4_ENST00000367485.4_Missense_Mutation_p.P124Q|PRG4_ENST00000367486.3_Missense_Mutation_p.P174Q|PRG4_ENST00000367483.4_Missense_Mutation_p.P176Q|PRG4_ENST00000367484.3_Missense_Mutation_p.P176Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	217					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCAAACCACCAGTTGTAGAT	0.373																																																	0													168.0	170.0	169.0					1																	186275501		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.650C>A	1.37:g.186275501C>A	ENSP00000399679:p.Pro217Gln		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P217Q	ENST00000445192.2	37	c.650	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	c	1.040	-0.679066	0.03378	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T	0.47869	3.2;3.43;0.83;3.3;2.47;3.42	3.97	2.07	0.26955	.	0.161636	0.29034	U	0.013341	T	0.34803	0.0910	L	0.39397	1.21	0.22354	N	0.999178	P;P;P;P	0.46912	0.886;0.886;0.62;0.738	B;B;B;B	0.42245	0.381;0.381;0.142;0.276	T	0.19582	-1.0301	10	0.52906	T	0.07	-0.232	5.32	0.15876	0.1988:0.6924:0.0:0.1088	.	83;124;217;176	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	Q	174;176;126;83;176;124;217	ENSP00000356456:P174Q;ENSP00000356454:P176Q;ENSP00000431330:P126Q;ENSP00000356453:P176Q;ENSP00000356455:P124Q;ENSP00000399679:P217Q	ENSP00000356452:P83Q	P	+	2	0	PRG4	184542124	0.000000	0.05858	0.025000	0.17156	0.033000	0.12548	-0.400000	0.07241	0.287000	0.22375	-1.641000	0.00772	CCA	PRG4	-	NULL		0.373	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	C	NM_005807		186275501	+1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.808	A
PRG4	10216	genome.wustl.edu	37	1	186275501	186275501	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:186275501C>A	ENST00000445192.2	+	7	695	c.650C>A	c.(649-651)cCa>cAa	p.P217Q	PRG4_ENST00000367485.4_Missense_Mutation_p.P124Q|PRG4_ENST00000367486.3_Missense_Mutation_p.P174Q|PRG4_ENST00000367483.4_Missense_Mutation_p.P176Q|PRG4_ENST00000367484.3_Missense_Mutation_p.P176Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	217					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCAAACCACCAGTTGTAGAT	0.373																																																	0													168.0	170.0	169.0					1																	186275501		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.650C>A	1.37:g.186275501C>A	ENSP00000399679:p.Pro217Gln		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P217Q	ENST00000445192.2	37	c.650	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	c	1.040	-0.679066	0.03378	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T	0.47869	3.2;3.43;0.83;3.3;2.47;3.42	3.97	2.07	0.26955	.	0.161636	0.29034	U	0.013341	T	0.34803	0.0910	L	0.39397	1.21	0.22354	N	0.999178	P;P;P;P	0.46912	0.886;0.886;0.62;0.738	B;B;B;B	0.42245	0.381;0.381;0.142;0.276	T	0.19582	-1.0301	10	0.52906	T	0.07	-0.232	5.32	0.15876	0.1988:0.6924:0.0:0.1088	.	83;124;217;176	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	Q	174;176;126;83;176;124;217	ENSP00000356456:P174Q;ENSP00000356454:P176Q;ENSP00000431330:P126Q;ENSP00000356453:P176Q;ENSP00000356455:P124Q;ENSP00000399679:P217Q	ENSP00000356452:P83Q	P	+	2	0	PRG4	184542124	0.000000	0.05858	0.025000	0.17156	0.033000	0.12548	-0.400000	0.07241	0.287000	0.22375	-1.641000	0.00772	CCA	PRG4	-	NULL		0.373	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	C	NM_005807		186275501	+1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.808	A
PTH1R	5745	genome.wustl.edu	37	3	46944832	46944832	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:46944832G>A	ENST00000313049.5	+	14	1671	c.1468G>A	c.(1468-1470)Ggg>Agg	p.G490R	PTH1R_ENST00000449590.1_Missense_Mutation_p.G490R|PTH1R_ENST00000430002.2_Missense_Mutation_p.G490R|PTH1R_ENST00000418619.1_Missense_Mutation_p.G490R			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	490					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GGCACGCAGCGGGAGCAGCAG	0.617																																																	0													45.0	39.0	41.0					3																	46944832		2203	4300	6503	SO:0001583	missense	5745				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1468G>A	3.37:g.46944832G>A	ENSP00000321999:p.Gly490Arg		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.G490R	ENST00000313049.5	37	c.1468	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311536	0.81358	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.1	4.21	0.49690	.	.	.	.	.	T	0.68742	0.3034	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.67189	-0.5733	9	0.40728	T	0.16	.	7.9803	0.30179	0.0796:0.0:0.7594:0.1611	.	490	Q03431	PTH1R_HUMAN	R	490;490;490;490;490;795;79	ENSP00000402723:G490R;ENSP00000411424:G490R;ENSP00000400977:G490R;ENSP00000413774:G490R;ENSP00000321999:G490R;ENSP00000396176:G79R	ENSP00000321999:G490R	G	+	1	0	PTH1R	46919836	0.239000	0.23836	0.993000	0.49108	0.980000	0.70556	1.451000	0.35145	1.480000	0.48289	0.563000	0.77884	GGG	PTH1R	-	prints_GPCR_2_parathyroid_rcpt		0.617	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	G	NM_000316		46944832	+1	no_errors	ENST00000313049	ensembl	human	known	70_37	missense	SNP	1.000	A
PTH1R	5745	genome.wustl.edu	37	3	46944832	46944832	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:46944832G>A	ENST00000313049.5	+	14	1671	c.1468G>A	c.(1468-1470)Ggg>Agg	p.G490R	PTH1R_ENST00000449590.1_Missense_Mutation_p.G490R|PTH1R_ENST00000430002.2_Missense_Mutation_p.G490R|PTH1R_ENST00000418619.1_Missense_Mutation_p.G490R			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	490					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GGCACGCAGCGGGAGCAGCAG	0.617																																																	0													45.0	39.0	41.0					3																	46944832		2203	4300	6503	SO:0001583	missense	5745				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1468G>A	3.37:g.46944832G>A	ENSP00000321999:p.Gly490Arg		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.G490R	ENST00000313049.5	37	c.1468	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311536	0.81358	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.1	4.21	0.49690	.	.	.	.	.	T	0.68742	0.3034	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.67189	-0.5733	9	0.40728	T	0.16	.	7.9803	0.30179	0.0796:0.0:0.7594:0.1611	.	490	Q03431	PTH1R_HUMAN	R	490;490;490;490;490;795;79	ENSP00000402723:G490R;ENSP00000411424:G490R;ENSP00000400977:G490R;ENSP00000413774:G490R;ENSP00000321999:G490R;ENSP00000396176:G79R	ENSP00000321999:G490R	G	+	1	0	PTH1R	46919836	0.239000	0.23836	0.993000	0.49108	0.980000	0.70556	1.451000	0.35145	1.480000	0.48289	0.563000	0.77884	GGG	PTH1R	-	prints_GPCR_2_parathyroid_rcpt		0.617	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	G	NM_000316		46944832	+1	no_errors	ENST00000313049	ensembl	human	known	70_37	missense	SNP	1.000	A
PTRH1	138428	genome.wustl.edu	37	9	130476435	130476435	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:130476435C>T	ENST00000419060.1	-	6	2045	c.589G>A	c.(589-591)Gac>Aac	p.D197N	PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000373289.3_5'Flank|C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000543175.1_Missense_Mutation_p.D197N|C9orf117_ENST00000373293.5_Intron|PTRH1_ENST00000423807.1_Silent_p.P181P|TTC16_ENST00000393748.4_5'Flank			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	197						mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						AAGATCAGGTCGGTGGCTCGA	0.667																																																	0													34.0	35.0	34.0					9																	130476435		2203	4299	6502	SO:0001583	missense	138428			AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 115"""	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000419060.1:c.589G>A	9.37:g.130476435C>T	ENSP00000418661:p.Asp197Asn			Missense_Mutation	SNP	pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro	p.D197N	ENST00000419060.1	37	c.589	CCDS35147.1	9	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850404	0.91277	.	.	ENSG00000187024	ENST00000419060;ENST00000543175	.	.	.	4.76	4.76	0.60689	.	0.296103	0.32430	N	0.006107	T	0.73999	0.3659	L	0.55017	1.72	0.53688	D	0.999975	D	0.76494	0.999	D	0.66847	0.947	T	0.74682	-0.3583	9	0.46703	T	0.11	-19.1742	16.7193	0.85406	0.0:1.0:0.0:0.0	.	197	Q86Y79	PTH_HUMAN	N	197	.	ENSP00000418661:D197N	D	-	1	0	PTRH1	129516256	0.994000	0.37717	0.936000	0.37596	0.929000	0.56500	3.464000	0.53057	2.366000	0.80165	0.462000	0.41574	GAC	PTRH1	-	pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro		0.667	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRH1	HGNC	protein_coding	OTTHUMT00000054219.4	C	NM_001002913		130476435	-1	no_errors	ENST00000419060	ensembl	human	known	70_37	missense	SNP	0.997	T
MIR1204	100302185	genome.wustl.edu	37	8	129082589	129082589	+	IGR	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:129082589G>C								MIR1207 (21105 upstream) : MIR1208 (79772 downstream)																							gagtttctctgatatggactg	0.463																																																	0																																										SO:0001628	intergenic_variant	5820																															8.37:g.129082589G>C				RNA	SNP	-	NULL		37	NULL		8																																																																																			PVT1	-	-	0	0.463					PVT1	HGNC			G			129082589	+1	no_errors	ENST00000522875	ensembl	human	known	70_37	rna	SNP	0.000	C
RAI1	10743	genome.wustl.edu	37	17	17713347	17713347	+	3'UTR	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:17713347C>T	ENST00000353383.1	+	0	6242				RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1						circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCCCGCCCGCCGCCGAAGGAG	0.711																																																	0													1.0	2.0	2.0					17																	17713347		609	1305	1914	SO:0001624	3_prime_UTR_variant	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.*52C>T	17.37:g.17713347C>T			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	RNA	SNP	-	NULL	ENST00000353383.1	37	NULL	CCDS11188.1	17																																																																																			RAI1	-	-		0.711	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	C	NM_030665		17713347	+1	no_errors	ENST00000582514	ensembl	human	putative	70_37	rna	SNP	0.916	T
REPS1	85021	genome.wustl.edu	37	6	139241454	139241454	+	Splice_Site	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:139241454C>G	ENST00000450536.2	-	12	2001		c.e12-1		REPS1_ENST00000367663.4_Splice_Site|REPS1_ENST00000415951.2_Splice_Site|REPS1_ENST00000258062.5_Splice_Site|REPS1_ENST00000409812.2_Splice_Site			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1						receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTTGTATGATCTAATAGAGAA	0.313																																																	0													110.0	115.0	113.0					6																	139241454		2203	4300	6503	SO:0001630	splice_region_variant	85021				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1427-1G>C	6.37:g.139241454C>G			B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Splice_Site	SNP	-	e12-1	ENST00000450536.2	37	c.1427-1		6	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456849	0.63401	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	REPS1	139283147	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	6.524000	0.73791	2.798000	0.96311	0.655000	0.94253	.	REPS1	-	-		0.313	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	C		Intron	139241454	-1	no_errors	ENST00000450536	ensembl	human	known	70_37	splice_site	SNP	1.000	G
REPS1	85021	genome.wustl.edu	37	6	139241454	139241454	+	Splice_Site	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr6:139241454C>G	ENST00000450536.2	-	12	2001		c.e12-1		REPS1_ENST00000367663.4_Splice_Site|REPS1_ENST00000415951.2_Splice_Site|REPS1_ENST00000258062.5_Splice_Site|REPS1_ENST00000409812.2_Splice_Site			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1						receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTTGTATGATCTAATAGAGAA	0.313																																																	0													110.0	115.0	113.0					6																	139241454		2203	4300	6503	SO:0001630	splice_region_variant	85021				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1427-1G>C	6.37:g.139241454C>G			B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Splice_Site	SNP	-	e12-1	ENST00000450536.2	37	c.1427-1		6	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456849	0.63401	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	REPS1	139283147	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	6.524000	0.73791	2.798000	0.96311	0.655000	0.94253	.	REPS1	-	-		0.313	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	C		Intron	139241454	-1	no_errors	ENST00000450536	ensembl	human	known	70_37	splice_site	SNP	1.000	G
REXO4	57109	genome.wustl.edu	37	9	136277936	136277936	+	Silent	SNP	G	G	A	rs143883166		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:136277936G>A	ENST00000371942.3	-	3	877	c.678C>T	c.(676-678)agC>agT	p.S226S	REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	226					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TGAGGCTGACGCTGCCCTCGC	0.622																																																	0								A		3,4403	6.2+/-15.9	0,3,2200	95.0	69.0	78.0		678	1.6	0.0	9	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	REXO4	NM_020385.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		226/423	136277936	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57109			AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.678C>T	9.37:g.136277936G>A			B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.S226	ENST00000371942.3	37	c.678	CCDS6969.1	9																																																																																			REXO4	-	NULL		0.622	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO4	HGNC	protein_coding	OTTHUMT00000054899.1	G			136277936	-1	no_errors	ENST00000371942	ensembl	human	known	70_37	silent	SNP	0.000	A
REXO4	57109	genome.wustl.edu	37	9	136277936	136277936	+	Silent	SNP	G	G	A	rs143883166		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:136277936G>A	ENST00000371942.3	-	3	877	c.678C>T	c.(676-678)agC>agT	p.S226S	REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	226					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TGAGGCTGACGCTGCCCTCGC	0.622																																																	0								A		3,4403	6.2+/-15.9	0,3,2200	95.0	69.0	78.0		678	1.6	0.0	9	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	REXO4	NM_020385.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		226/423	136277936	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57109			AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.678C>T	9.37:g.136277936G>A			B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.S226	ENST00000371942.3	37	c.678	CCDS6969.1	9																																																																																			REXO4	-	NULL		0.622	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO4	HGNC	protein_coding	OTTHUMT00000054899.1	G			136277936	-1	no_errors	ENST00000371942	ensembl	human	known	70_37	silent	SNP	0.000	A
RGR	5995	genome.wustl.edu	37	10	86018409	86018409	+	3'UTR	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:86018409G>C	ENST00000359452.4	+	0	940				RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor						chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGCCACCCTGGAGTGAGCCCC	0.632																																					NSCLC(15;204 545 5889 6385 32445)												0													53.0	45.0	48.0					10																	86018409		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5995			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.*14G>C	10.37:g.86018409G>C			A6NKK7|Q96FC5	RNA	SNP	-	NULL	ENST00000359452.4	37	NULL	CCDS7374.1	10																																																																																			RGR	-	-		0.632	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	HGNC	protein_coding	OTTHUMT00000049116.1	G	NM_002921		86018409	+1	no_errors	ENST00000479725	ensembl	human	known	70_37	rna	SNP	0.003	C
RGR	5995	genome.wustl.edu	37	10	86018409	86018409	+	3'UTR	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr10:86018409G>C	ENST00000359452.4	+	0	940				RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor						chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGCCACCCTGGAGTGAGCCCC	0.632																																					NSCLC(15;204 545 5889 6385 32445)												0													53.0	45.0	48.0					10																	86018409		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5995			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.*14G>C	10.37:g.86018409G>C			A6NKK7|Q96FC5	RNA	SNP	-	NULL	ENST00000359452.4	37	NULL	CCDS7374.1	10																																																																																			RGR	-	-		0.632	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	HGNC	protein_coding	OTTHUMT00000049116.1	G	NM_002921		86018409	+1	no_errors	ENST00000479725	ensembl	human	known	70_37	rna	SNP	0.003	C
RIMS2	9699	genome.wustl.edu	37	8	104973324	104973324	+	Silent	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:104973324T>C	ENST00000436393.2	+	13	2308	c.2067T>C	c.(2065-2067)tcT>tcC	p.S689S	RIMS2_ENST00000507740.1_Silent_p.S703S|RIMS2_ENST00000406091.3_Silent_p.S911S|RIMS2_ENST00000262231.10_Silent_p.S750S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	973	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTGAAGTCTCTGACTATGACT	0.303										HNSCC(12;0.0054)																																							0													107.0	115.0	112.0					8																	104973324		1802	4059	5861	SO:0001819	synonymous_variant	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2067T>C	8.37:g.104973324T>C			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.S911	ENST00000436393.2	37	c.2733		8																																																																																			RIMS2	-	NULL		0.303	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	T	NM_001100117		104973324	+1	no_errors	ENST00000406091	ensembl	human	known	70_37	silent	SNP	1.000	C
RIMS2	9699	genome.wustl.edu	37	8	104973324	104973324	+	Silent	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:104973324T>C	ENST00000436393.2	+	13	2308	c.2067T>C	c.(2065-2067)tcT>tcC	p.S689S	RIMS2_ENST00000507740.1_Silent_p.S703S|RIMS2_ENST00000406091.3_Silent_p.S911S|RIMS2_ENST00000262231.10_Silent_p.S750S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	973	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTGAAGTCTCTGACTATGACT	0.303										HNSCC(12;0.0054)																																							0													107.0	115.0	112.0					8																	104973324		1802	4059	5861	SO:0001819	synonymous_variant	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2067T>C	8.37:g.104973324T>C			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.S911	ENST00000436393.2	37	c.2733		8																																																																																			RIMS2	-	NULL		0.303	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	T	NM_001100117		104973324	+1	no_errors	ENST00000406091	ensembl	human	known	70_37	silent	SNP	1.000	C
RXRA	6256	genome.wustl.edu	37	9	137330790	137330790	+	IGR	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:137330790G>A	ENST00000481739.1	+	0	1846				RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha						camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CTTACCCACCGCTCTACGTGT	0.617																																																	0																																										SO:0001628	intergenic_variant	6256			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887		9.37:g.137330790G>A			B3KY83|Q2NL52|Q2V504	RNA	SNP	-	NULL	ENST00000481739.1	37	NULL	CCDS35172.1	9																																																																																			RXRA	-	-		0.617	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRA	HGNC	protein_coding	OTTHUMT00000054949.1	G	NM_002957		137330790	+1	no_errors	ENST00000356384	ensembl	human	known	70_37	rna	SNP	0.000	A
RYR1	6261	genome.wustl.edu	37	19	38976785	38976785	+	Silent	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:38976785C>T	ENST00000359596.3	+	34	5490	c.5490C>T	c.(5488-5490)gtC>gtT	p.V1830V	RYR1_ENST00000360985.3_Silent_p.V1830V|RYR1_ENST00000355481.4_Silent_p.V1830V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1830	6 X approximate repeats.				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)			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)	GCGACCCCGTCGGGGGCTCCG	0.662																																																	0													97.0	97.0	97.0					19																	38976785		2185	4256	6441	SO:0001819	synonymous_variant	6261			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.5490C>T	19.37:g.38976785C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.V1830	ENST00000359596.3	37	c.5490	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38976785	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	0.857	T
RYR1	6261	genome.wustl.edu	37	19	38976785	38976785	+	Silent	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:38976785C>T	ENST00000359596.3	+	34	5490	c.5490C>T	c.(5488-5490)gtC>gtT	p.V1830V	RYR1_ENST00000360985.3_Silent_p.V1830V|RYR1_ENST00000355481.4_Silent_p.V1830V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1830	6 X approximate repeats.				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)			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)	GCGACCCCGTCGGGGGCTCCG	0.662																																																	0													97.0	97.0	97.0					19																	38976785		2185	4256	6441	SO:0001819	synonymous_variant	6261			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.5490C>T	19.37:g.38976785C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.V1830	ENST00000359596.3	37	c.5490	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38976785	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	0.857	T
SEMA4F	10505	genome.wustl.edu	37	2	74902126	74902126	+	Silent	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:74902126C>T	ENST00000357877.2	+	9	1262	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	SEMA4F_ENST00000339773.5_Silent_p.V216V|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	371	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCCTGTCGTGGACAATG	0.532											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68.0	68.0	68.0					2																	74902126		2203	4300	6503	SO:0001819	synonymous_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1113C>T	2.37:g.74902126C>T		1156	Q542Y7|Q9NS35	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.V371	ENST00000357877.2	37	c.1113	CCDS1955.1	2																																																																																			SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.532	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	C	NM_004263		74902126	+1	no_errors	ENST00000357877	ensembl	human	known	70_37	silent	SNP	0.981	T
SEMA4F	10505	genome.wustl.edu	37	2	74902126	74902126	+	Silent	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:74902126C>T	ENST00000357877.2	+	9	1262	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	SEMA4F_ENST00000339773.5_Silent_p.V216V|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	371	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCCTGTCGTGGACAATG	0.532											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68.0	68.0	68.0					2																	74902126		2203	4300	6503	SO:0001819	synonymous_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1113C>T	2.37:g.74902126C>T		1156	Q542Y7|Q9NS35	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.V371	ENST00000357877.2	37	c.1113	CCDS1955.1	2																																																																																			SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.532	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	C	NM_004263		74902126	+1	no_errors	ENST00000357877	ensembl	human	known	70_37	silent	SNP	0.981	T
SETD2	29072	genome.wustl.edu	37	3	47162506	47162506	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:47162506G>C	ENST00000409792.3	-	3	3662	c.3620C>G	c.(3619-3621)tCt>tGt	p.S1207C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1207					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCAAAATCAGAAGAATAAAT	0.418			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													95.0	97.0	96.0					3																	47162506		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3620C>G	3.37:g.47162506G>C	ENSP00000386759:p.Ser1207Cys		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.S1207C	ENST00000409792.3	37	c.3620	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975061	0.18736	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89050	-2.46;1.42	4.33	4.33	0.51752	.	1.360170	0.04573	N	0.393652	T	0.81019	0.4736	N	0.08118	0	0.20196	N	0.999922	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.67546	-0.5643	10	0.72032	D	0.01	.	10.6456	0.45617	0.0883:0.0:0.9117:0.0	.	1207;1207	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	1207;1207;1207;1163	ENSP00000386759:S1207C;ENSP00000416401:S1163C	ENSP00000386759:S1207C	S	-	2	0	SETD2	47137510	0.982000	0.34865	1.000000	0.80357	0.973000	0.67179	3.378000	0.52432	2.230000	0.72887	0.655000	0.94253	TCT	SETD2	-	NULL		0.418	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	G	NM_014159		47162506	-1	no_errors	ENST00000409792	ensembl	human	known	70_37	missense	SNP	0.850	C
SETD2	29072	genome.wustl.edu	37	3	47162506	47162506	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:47162506G>C	ENST00000409792.3	-	3	3662	c.3620C>G	c.(3619-3621)tCt>tGt	p.S1207C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1207					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCAAAATCAGAAGAATAAAT	0.418			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													95.0	97.0	96.0					3																	47162506		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3620C>G	3.37:g.47162506G>C	ENSP00000386759:p.Ser1207Cys		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.S1207C	ENST00000409792.3	37	c.3620	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975061	0.18736	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89050	-2.46;1.42	4.33	4.33	0.51752	.	1.360170	0.04573	N	0.393652	T	0.81019	0.4736	N	0.08118	0	0.20196	N	0.999922	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.67546	-0.5643	10	0.72032	D	0.01	.	10.6456	0.45617	0.0883:0.0:0.9117:0.0	.	1207;1207	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	1207;1207;1207;1163	ENSP00000386759:S1207C;ENSP00000416401:S1163C	ENSP00000386759:S1207C	S	-	2	0	SETD2	47137510	0.982000	0.34865	1.000000	0.80357	0.973000	0.67179	3.378000	0.52432	2.230000	0.72887	0.655000	0.94253	TCT	SETD2	-	NULL		0.418	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	G	NM_014159		47162506	-1	no_errors	ENST00000409792	ensembl	human	known	70_37	missense	SNP	0.850	C
SLC26A1	10861	genome.wustl.edu	37	4	983041	983041	+	Silent	SNP	C	C	A	rs199549367		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:983041C>A	ENST00000361661.2	-	4	2063	c.1686G>T	c.(1684-1686)acG>acT	p.T562T	IDUA_ENST00000509744.1_3'UTR|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398516.2_Silent_p.T562T	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	562	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGTCCAGCCCCGTGAGGCTGT	0.692																																																	0													24.0	27.0	26.0					4																	983041		2196	4297	6493	SO:0001819	synonymous_variant	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1686G>T	4.37:g.983041C>A			A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.T562	ENST00000361661.2	37	c.1686	CCDS33934.1	4																																																																																			SLC26A1	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.692	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A1	HGNC	protein_coding	OTTHUMT00000358783.1	C	NM_022042, NM_134425		983041	-1	no_errors	ENST00000361661	ensembl	human	known	70_37	silent	SNP	0.007	A
SLC26A10	65012	genome.wustl.edu	37	12	58019065	58019065	+	Silent	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr12:58019065C>T	ENST00000320442.4	+	12	1736	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	475	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GTGGTGTCACCTTTGCAGATG	0.542																																																	0													219.0	200.0	206.0					12																	58019065		2203	4300	6503	SO:0001819	synonymous_variant	65012				CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1425C>T	12.37:g.58019065C>T			A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.T475	ENST00000320442.4	37	c.1425	CCDS8949.2	12																																																																																			SLC26A10	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom		0.542	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A10	HGNC	protein_coding	OTTHUMT00000250311.2	C			58019065	+1	no_errors	ENST00000320442	ensembl	human	known	70_37	silent	SNP	0.806	T
SLC26A10	65012	genome.wustl.edu	37	12	58019065	58019065	+	Silent	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr12:58019065C>T	ENST00000320442.4	+	12	1736	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	475	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GTGGTGTCACCTTTGCAGATG	0.542																																																	0													219.0	200.0	206.0					12																	58019065		2203	4300	6503	SO:0001819	synonymous_variant	65012				CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1425C>T	12.37:g.58019065C>T			A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.T475	ENST00000320442.4	37	c.1425	CCDS8949.2	12																																																																																			SLC26A10	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom		0.542	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A10	HGNC	protein_coding	OTTHUMT00000250311.2	C			58019065	+1	no_errors	ENST00000320442	ensembl	human	known	70_37	silent	SNP	0.806	T
SPAG11B	10407	genome.wustl.edu	37	8	7308358	7308358	+	3'UTR	SNP	A	A	G	rs556400728		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:7308358A>G	ENST00000297498.2	-	0	521				SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000359758.5_Silent_p.F93F|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000398462.2_Silent_p.F93F|SPAG11B_ENST00000458665.1_Silent_p.F40F	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		AATGGCAGAAAAAAAGTCTGC	0.423													A|||	1	0.000199681	0.0	0.0	5008	,	,		25672	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	10407			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.*43T>C	8.37:g.7308358A>G			E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Silent	SNP	pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ	p.F93	ENST00000297498.2	37	c.279	CCDS5966.1	8																																																																																			SPAG11B	-	pfam_Defensin_beta-typ		0.423	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	SPAG11B	HGNC	protein_coding	OTTHUMT00000251390.2	A	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		7308358	-1	no_errors	ENST00000398462	ensembl	human	known	70_37	silent	SNP	0.994	G
SPAG11B	10407	genome.wustl.edu	37	8	7308358	7308358	+	3'UTR	SNP	A	A	G	rs556400728		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:7308358A>G	ENST00000297498.2	-	0	521				SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000359758.5_Silent_p.F93F|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000398462.2_Silent_p.F93F|SPAG11B_ENST00000458665.1_Silent_p.F40F	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		AATGGCAGAAAAAAAGTCTGC	0.423													A|||	1	0.000199681	0.0	0.0	5008	,	,		25672	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	10407			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.*43T>C	8.37:g.7308358A>G			E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Silent	SNP	pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ	p.F93	ENST00000297498.2	37	c.279	CCDS5966.1	8																																																																																			SPAG11B	-	pfam_Defensin_beta-typ		0.423	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	SPAG11B	HGNC	protein_coding	OTTHUMT00000251390.2	A	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		7308358	-1	no_errors	ENST00000398462	ensembl	human	known	70_37	silent	SNP	0.994	G
SPARCL1	8404	genome.wustl.edu	37	4	88415045	88415045	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:88415045C>T	ENST00000282470.6	-	4	1377	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	SPARCL1_ENST00000418378.1_Missense_Mutation_p.E303K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.E178K	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	303					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTGATAGCTTCTAGGCCAGTT	0.433																																																	0													291.0	276.0	281.0					4																	88415045		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.907G>A	4.37:g.88415045C>T	ENSP00000282470:p.Glu303Lys		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.E303K	ENST00000282470.6	37	c.907	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	9.660	1.143766	0.21205	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.26067	2.33;2.33;1.76	4.74	3.89	0.44902	.	0.630882	0.16630	N	0.206104	T	0.19886	0.0478	L	0.34521	1.04	0.18873	N	0.999987	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.009	T	0.17379	-1.0371	10	0.72032	D	0.01	-7.8994	9.3203	0.37959	0.0:0.8975:0.0:0.1025	.	303;303	Q8N4S1;Q14515	.;SPRL1_HUMAN	K	303;303;178;178	ENSP00000282470:E303K;ENSP00000414856:E303K;ENSP00000422903:E178K	ENSP00000282470:E303K	E	-	1	0	SPARCL1	88634069	0.073000	0.21202	0.052000	0.19188	0.002000	0.02628	1.042000	0.30303	1.294000	0.44707	0.655000	0.94253	GAA	SPARCL1	-	pirsf_SPARC-like_p1		0.433	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88415045	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	0.133	T
SPARCL1	8404	genome.wustl.edu	37	4	88415045	88415045	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:88415045C>T	ENST00000282470.6	-	4	1377	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	SPARCL1_ENST00000418378.1_Missense_Mutation_p.E303K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.E178K	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	303					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTGATAGCTTCTAGGCCAGTT	0.433																																																	0													291.0	276.0	281.0					4																	88415045		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.907G>A	4.37:g.88415045C>T	ENSP00000282470:p.Glu303Lys		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.E303K	ENST00000282470.6	37	c.907	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	9.660	1.143766	0.21205	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.26067	2.33;2.33;1.76	4.74	3.89	0.44902	.	0.630882	0.16630	N	0.206104	T	0.19886	0.0478	L	0.34521	1.04	0.18873	N	0.999987	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.009	T	0.17379	-1.0371	10	0.72032	D	0.01	-7.8994	9.3203	0.37959	0.0:0.8975:0.0:0.1025	.	303;303	Q8N4S1;Q14515	.;SPRL1_HUMAN	K	303;303;178;178	ENSP00000282470:E303K;ENSP00000414856:E303K;ENSP00000422903:E178K	ENSP00000282470:E303K	E	-	1	0	SPARCL1	88634069	0.073000	0.21202	0.052000	0.19188	0.002000	0.02628	1.042000	0.30303	1.294000	0.44707	0.655000	0.94253	GAA	SPARCL1	-	pirsf_SPARC-like_p1		0.433	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88415045	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	0.133	T
SPARCL1	8404	genome.wustl.edu	37	4	88415720	88415720	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:88415720C>G	ENST00000282470.6	-	4	702	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	SPARCL1_ENST00000418378.1_Missense_Mutation_p.E78Q|SPARCL1_ENST00000503414.1_5'UTR	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	78					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TGGCTTTCCTCTTTTGACTTT	0.363																																																	0													86.0	80.0	82.0					4																	88415720		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.232G>C	4.37:g.88415720C>G	ENSP00000282470:p.Glu78Gln		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.E78Q	ENST00000282470.6	37	c.232	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121411	0.20877	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000509407;ENST00000434434;ENST00000535835;ENST00000512317;ENST00000543631	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.88	4.04	0.47022	.	0.779066	0.11882	N	0.520457	T	0.36082	0.0954	L	0.36672	1.1	0.26778	N	0.969656	B;B	0.32653	0.379;0.379	B;B	0.26517	0.07;0.07	T	0.22347	-1.0219	10	0.49607	T	0.09	-4.2815	9.8924	0.41298	0.0:0.9029:0.0:0.0971	.	78;78	Q8N4S1;Q14515	.;SPRL1_HUMAN	Q	78	ENSP00000282470:E78Q;ENSP00000414856:E78Q;ENSP00000423483:E78Q;ENSP00000416971:E78Q;ENSP00000438188:E78Q;ENSP00000423448:E78Q;ENSP00000444832:E78Q	ENSP00000282470:E78Q	E	-	1	0	SPARCL1	88634744	0.945000	0.32115	0.904000	0.35570	0.039000	0.13416	1.020000	0.30027	1.377000	0.46286	0.655000	0.94253	GAG	SPARCL1	-	pirsf_SPARC-like_p1		0.363	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88415720	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	0.974	G
SPARCL1	8404	genome.wustl.edu	37	4	88415720	88415720	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr4:88415720C>G	ENST00000282470.6	-	4	702	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	SPARCL1_ENST00000418378.1_Missense_Mutation_p.E78Q|SPARCL1_ENST00000503414.1_5'UTR	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	78					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TGGCTTTCCTCTTTTGACTTT	0.363																																																	0													86.0	80.0	82.0					4																	88415720		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.232G>C	4.37:g.88415720C>G	ENSP00000282470:p.Glu78Gln		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.E78Q	ENST00000282470.6	37	c.232	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121411	0.20877	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000509407;ENST00000434434;ENST00000535835;ENST00000512317;ENST00000543631	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.88	4.04	0.47022	.	0.779066	0.11882	N	0.520457	T	0.36082	0.0954	L	0.36672	1.1	0.26778	N	0.969656	B;B	0.32653	0.379;0.379	B;B	0.26517	0.07;0.07	T	0.22347	-1.0219	10	0.49607	T	0.09	-4.2815	9.8924	0.41298	0.0:0.9029:0.0:0.0971	.	78;78	Q8N4S1;Q14515	.;SPRL1_HUMAN	Q	78	ENSP00000282470:E78Q;ENSP00000414856:E78Q;ENSP00000423483:E78Q;ENSP00000416971:E78Q;ENSP00000438188:E78Q;ENSP00000423448:E78Q;ENSP00000444832:E78Q	ENSP00000282470:E78Q	E	-	1	0	SPARCL1	88634744	0.945000	0.32115	0.904000	0.35570	0.039000	0.13416	1.020000	0.30027	1.377000	0.46286	0.655000	0.94253	GAG	SPARCL1	-	pirsf_SPARC-like_p1		0.363	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88415720	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	0.974	G
SSR3	6747	genome.wustl.edu	37	3	156271474	156271474	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:156271474T>C	ENST00000265044.2	-	2	324	c.230A>G	c.(229-231)tAc>tGc	p.Y77C	SSR3_ENST00000467789.1_Missense_Mutation_p.Y77C|SSR3_ENST00000463503.1_Missense_Mutation_p.Y25C|SSR3_ENST00000476217.1_Missense_Mutation_p.Y77C|SSR3_ENST00000478842.1_5'Flank|SSR3_ENST00000496050.1_Missense_Mutation_p.Y25C	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	77					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CACATTCTTGTATGCAAAGGC	0.333																																																	0													104.0	96.0	99.0					3																	156271474		2203	4300	6503	SO:0001583	missense	6747			BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.230A>G	3.37:g.156271474T>C	ENSP00000265044:p.Tyr77Cys		B2R7D0|B4E2P2|D3DNK5|Q549M4	Missense_Mutation	SNP	pfam_TRAP-gamma	p.Y77C	ENST00000265044.2	37	c.230	CCDS3176.1	3	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231671	0.79688	.	.	ENSG00000114850	ENST00000265044;ENST00000467789;ENST00000476217;ENST00000463503;ENST00000496050	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81320	-0.0986	9	0.54805	T	0.06	-5.5201	15.2471	0.73513	0.0:0.0:0.0:1.0	.	77;77	B4E2P2;Q9UNL2	.;SSRG_HUMAN	C	77;77;77;25;25	.	ENSP00000265044:Y77C	Y	-	2	0	SSR3	157754168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.801000	0.85960	2.054000	0.61138	0.528000	0.53228	TAC	SSR3	-	pfam_TRAP-gamma		0.333	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR3	HGNC	protein_coding	OTTHUMT00000351521.1	T	NM_007107		156271474	-1	no_errors	ENST00000265044	ensembl	human	known	70_37	missense	SNP	1.000	C
SSR3	6747	genome.wustl.edu	37	3	156271474	156271474	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:156271474T>C	ENST00000265044.2	-	2	324	c.230A>G	c.(229-231)tAc>tGc	p.Y77C	SSR3_ENST00000467789.1_Missense_Mutation_p.Y77C|SSR3_ENST00000463503.1_Missense_Mutation_p.Y25C|SSR3_ENST00000476217.1_Missense_Mutation_p.Y77C|SSR3_ENST00000478842.1_5'Flank|SSR3_ENST00000496050.1_Missense_Mutation_p.Y25C	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	77					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CACATTCTTGTATGCAAAGGC	0.333																																																	0													104.0	96.0	99.0					3																	156271474		2203	4300	6503	SO:0001583	missense	6747			BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.230A>G	3.37:g.156271474T>C	ENSP00000265044:p.Tyr77Cys		B2R7D0|B4E2P2|D3DNK5|Q549M4	Missense_Mutation	SNP	pfam_TRAP-gamma	p.Y77C	ENST00000265044.2	37	c.230	CCDS3176.1	3	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231671	0.79688	.	.	ENSG00000114850	ENST00000265044;ENST00000467789;ENST00000476217;ENST00000463503;ENST00000496050	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81320	-0.0986	9	0.54805	T	0.06	-5.5201	15.2471	0.73513	0.0:0.0:0.0:1.0	.	77;77	B4E2P2;Q9UNL2	.;SSRG_HUMAN	C	77;77;77;25;25	.	ENSP00000265044:Y77C	Y	-	2	0	SSR3	157754168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.801000	0.85960	2.054000	0.61138	0.528000	0.53228	TAC	SSR3	-	pfam_TRAP-gamma		0.333	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR3	HGNC	protein_coding	OTTHUMT00000351521.1	T	NM_007107		156271474	-1	no_errors	ENST00000265044	ensembl	human	known	70_37	missense	SNP	1.000	C
STK39	27347	genome.wustl.edu	37	2	168811667	168811667	+	3'UTR	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:168811667G>A	ENST00000355999.4	-	0	2682				STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39						cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						AAGACCACCTGAGTGTATTTC	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	27347			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.*339C>T	2.37:g.168811667G>A			O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	RNA	SNP	-	NULL	ENST00000355999.4	37	NULL	CCDS42770.1	2																																																																																			STK39	-	-		0.328	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK39	HGNC	protein_coding	OTTHUMT00000258112.2	G	NM_013233		168811667	-1	no_errors	ENST00000487143	ensembl	human	known	70_37	rna	SNP	1.000	A
TBC1D5	9779	genome.wustl.edu	37	3	17279867	17279867	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:17279867T>C	ENST00000253692.7	-	17	3040	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S	TBC1D5_ENST00000429924.2_Missense_Mutation_p.N411S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.N459S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.N459S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	459						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AATCAGGCTATTAGAGACCTT	0.428																																																	0													46.0	45.0	45.0					3																	17279867		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1376A>G	3.37:g.17279867T>C	ENSP00000253692:p.Asn459Ser		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.N459S	ENST00000253692.7	37	c.1376	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550968	0.27739	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.39592	1.74;1.74;1.65;1.07	5.79	4.62	0.57501	.	0.085970	0.85682	D	0.000000	T	0.23451	0.0567	N	0.19112	0.55	0.47037	D	0.99929	B;B;B;B	0.21688	0.001;0.004;0.059;0.059	B;B;B;B	0.18263	0.001;0.003;0.021;0.021	T	0.06285	-1.0835	10	0.13108	T	0.6	-20.3739	7.2402	0.26092	0.0:0.0732:0.147:0.7798	.	411;459;459;459	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	S	459;459;459;411	ENSP00000253692:N459S;ENSP00000398127:N459S;ENSP00000402935:N459S;ENSP00000411925:N411S	ENSP00000253692:N459S	N	-	2	0	TBC1D5	17254871	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.610000	0.36869	1.005000	0.39183	0.454000	0.30748	AAT	TBC1D5	-	NULL		0.428	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	T	NM_014744		17279867	-1	no_errors	ENST00000253692	ensembl	human	known	70_37	missense	SNP	1.000	C
TBC1D5	9779	genome.wustl.edu	37	3	17279867	17279867	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:17279867T>C	ENST00000253692.7	-	17	3040	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S	TBC1D5_ENST00000429924.2_Missense_Mutation_p.N411S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.N459S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.N459S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	459						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AATCAGGCTATTAGAGACCTT	0.428																																																	0													46.0	45.0	45.0					3																	17279867		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1376A>G	3.37:g.17279867T>C	ENSP00000253692:p.Asn459Ser		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.N459S	ENST00000253692.7	37	c.1376	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550968	0.27739	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.39592	1.74;1.74;1.65;1.07	5.79	4.62	0.57501	.	0.085970	0.85682	D	0.000000	T	0.23451	0.0567	N	0.19112	0.55	0.47037	D	0.99929	B;B;B;B	0.21688	0.001;0.004;0.059;0.059	B;B;B;B	0.18263	0.001;0.003;0.021;0.021	T	0.06285	-1.0835	10	0.13108	T	0.6	-20.3739	7.2402	0.26092	0.0:0.0732:0.147:0.7798	.	411;459;459;459	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	S	459;459;459;411	ENSP00000253692:N459S;ENSP00000398127:N459S;ENSP00000402935:N459S;ENSP00000411925:N411S	ENSP00000253692:N459S	N	-	2	0	TBC1D5	17254871	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.610000	0.36869	1.005000	0.39183	0.454000	0.30748	AAT	TBC1D5	-	NULL		0.428	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	T	NM_014744		17279867	-1	no_errors	ENST00000253692	ensembl	human	known	70_37	missense	SNP	1.000	C
NELFCD	51497	genome.wustl.edu	37	20	57564055	57564055	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr20:57564055G>C	ENST00000344018.3	+	5	537	c.510G>C	c.(508-510)ttG>ttC	p.L170F	NELFCD_ENST00000602795.1_Missense_Mutation_p.L179F			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	170					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											CAGACTGTTTGATGCTGAACT	0.443																																																	0													99.0	88.0	92.0					20																	57564055		2203	4300	6503	SO:0001583	missense	51497			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.510G>C	20.37:g.57564055G>C	ENSP00000342300:p.Leu170Phe		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	pfam_TH1	p.L170F	ENST00000344018.3	37	c.510		20	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484400	0.63962	.	.	ENSG00000101158	ENST00000344018	.	.	.	4.92	2.84	0.33178	.	0.000000	0.64402	D	0.000002	T	0.72350	0.3449	M	0.85859	2.78	0.51233	D	0.999914	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.91635	0.999;0.995;0.999	T	0.72104	-0.4391	9	0.62326	D	0.03	-24.0233	4.3837	0.11305	0.1912:0.0:0.526:0.2827	.	170;179;170	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	F	170	.	ENSP00000342300:L170F	L	+	3	2	TH1L	56997450	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.501000	0.35693	1.204000	0.43247	0.561000	0.74099	TTG	TH1L	-	pfam_TH1		0.443	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	TH1L	HGNC	protein_coding		G	NM_198976		57564055	+1	no_errors	ENST00000344018	ensembl	human	known	70_37	missense	SNP	1.000	C
TIE1	7075	genome.wustl.edu	37	1	43780910	43780910	+	Intron	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:43780910C>T	ENST00000372476.3	+	14	2488				TIE1_ENST00000433781.2_Intron|TIE1_ENST00000473014.1_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1						angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ggcctggactcttgatattta	0.448																																																	0																																										SO:0001627	intron_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2409+1271C>T	1.37:g.43780910C>T			B5A949|B5A950	RNA	SNP	-	NULL	ENST00000372476.3	37	NULL	CCDS482.1	1																																																																																			TIE1	-	-		0.448	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43780910	+1	no_errors	ENST00000461061	ensembl	human	known	70_37	rna	SNP	0.007	T
TMEM132C	92293	genome.wustl.edu	37	12	128899777	128899777	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr12:128899777G>T	ENST00000435159.2	+	2	586	c.586G>T	c.(586-588)Gct>Tct	p.A196S		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	196						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GCTGTGTGTGGCTGAGCTGGA	0.662																																																	0													18.0	23.0	21.0					12																	128899777		692	1591	2283	SO:0001583	missense	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.586G>T	12.37:g.128899777G>T	ENSP00000410852:p.Ala196Ser		Q69YX8	Missense_Mutation	SNP	NULL	p.A196S	ENST00000435159.2	37	c.586		12	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384523	0.82792	.	.	ENSG00000181234	ENST00000435159	T	0.17528	2.27	5.09	5.09	0.68999	.	.	.	.	.	T	0.48040	0.1478	M	0.82716	2.605	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.53816	-0.8385	9	0.72032	D	0.01	.	18.8683	0.92301	0.0:0.0:1.0:0.0	.	196	Q8N3T6	T132C_HUMAN	S	196	ENSP00000410852:A196S	ENSP00000410852:A196S	A	+	1	0	TMEM132C	127465730	1.000000	0.71417	0.997000	0.53966	0.462000	0.32619	9.441000	0.97557	2.519000	0.84933	0.655000	0.94253	GCT	TMEM132C	-	NULL		0.662	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		G	XM_044062		128899777	+1	no_errors	ENST00000435159	ensembl	human	known	70_37	missense	SNP	1.000	T
TNIK	23043	genome.wustl.edu	37	3	170819317	170819317	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:170819317T>G	ENST00000436636.2	-	22	2856	c.2512A>C	c.(2512-2514)Agt>Cgt	p.S838R	TNIK_ENST00000475336.1_Missense_Mutation_p.S746R|TNIK_ENST00000369326.5_Missense_Mutation_p.S816R|TNIK_ENST00000357327.5_Missense_Mutation_p.S809R|TNIK_ENST00000538048.1_Missense_Mutation_p.S790R|TNIK_ENST00000284483.8_Missense_Mutation_p.S830R|TNIK_ENST00000341852.6_Missense_Mutation_p.S754R|TNIK_ENST00000460047.1_Missense_Mutation_p.S775R|TNIK_ENST00000488470.1_Missense_Mutation_p.S783R|TNIK_ENST00000470834.1_Missense_Mutation_p.S801R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	838	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTCGCTACTTTCTGACTCC	0.483																																																	0													280.0	278.0	278.0					3																	170819317		2089	4242	6331	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2512A>C	3.37:g.170819317T>G	ENSP00000399511:p.Ser838Arg		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.S838R	ENST00000436636.2	37	c.2512	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754443	0.69648	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D;D	0.71674	0.994;0.998;0.994;0.994;0.998;0.998;0.994;0.997	D;D;D;D;D;D;D;D	0.74348	0.983;0.947;0.983;0.983;0.947;0.947;0.983;0.922	D	0.84160	0.0428	10	0.51188	T	0.08	.	16.4219	0.83766	0.0:0.0:0.0:1.0	.	746;801;775;754;830;809;783;838	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	R	838;816;790;754;830;746;809;775;783;801	ENSP00000399511:S838R;ENSP00000358332:S816R;ENSP00000443278:S790R;ENSP00000345352:S754R;ENSP00000284483:S830R;ENSP00000418156:S746R;ENSP00000349880:S809R;ENSP00000418916:S775R;ENSP00000418378:S783R;ENSP00000419990:S801R	ENSP00000284483:S830R	S	-	1	0	TNIK	172302011	1.000000	0.71417	0.970000	0.41538	0.626000	0.37791	7.496000	0.81526	2.277000	0.76020	0.528000	0.53228	AGT	TNIK	-	NULL		0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	T	XM_039796		170819317	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	G
TNIK	23043	genome.wustl.edu	37	3	170819317	170819317	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:170819317T>G	ENST00000436636.2	-	22	2856	c.2512A>C	c.(2512-2514)Agt>Cgt	p.S838R	TNIK_ENST00000475336.1_Missense_Mutation_p.S746R|TNIK_ENST00000369326.5_Missense_Mutation_p.S816R|TNIK_ENST00000357327.5_Missense_Mutation_p.S809R|TNIK_ENST00000538048.1_Missense_Mutation_p.S790R|TNIK_ENST00000284483.8_Missense_Mutation_p.S830R|TNIK_ENST00000341852.6_Missense_Mutation_p.S754R|TNIK_ENST00000460047.1_Missense_Mutation_p.S775R|TNIK_ENST00000488470.1_Missense_Mutation_p.S783R|TNIK_ENST00000470834.1_Missense_Mutation_p.S801R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	838	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTCGCTACTTTCTGACTCC	0.483																																																	0													280.0	278.0	278.0					3																	170819317		2089	4242	6331	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2512A>C	3.37:g.170819317T>G	ENSP00000399511:p.Ser838Arg		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.S838R	ENST00000436636.2	37	c.2512	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754443	0.69648	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D;D	0.71674	0.994;0.998;0.994;0.994;0.998;0.998;0.994;0.997	D;D;D;D;D;D;D;D	0.74348	0.983;0.947;0.983;0.983;0.947;0.947;0.983;0.922	D	0.84160	0.0428	10	0.51188	T	0.08	.	16.4219	0.83766	0.0:0.0:0.0:1.0	.	746;801;775;754;830;809;783;838	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	R	838;816;790;754;830;746;809;775;783;801	ENSP00000399511:S838R;ENSP00000358332:S816R;ENSP00000443278:S790R;ENSP00000345352:S754R;ENSP00000284483:S830R;ENSP00000418156:S746R;ENSP00000349880:S809R;ENSP00000418916:S775R;ENSP00000418378:S783R;ENSP00000419990:S801R	ENSP00000284483:S830R	S	-	1	0	TNIK	172302011	1.000000	0.71417	0.970000	0.41538	0.626000	0.37791	7.496000	0.81526	2.277000	0.76020	0.528000	0.53228	AGT	TNIK	-	NULL		0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	T	XM_039796		170819317	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	G
TRAF4	9618	genome.wustl.edu	37	17	27075426	27075426	+	Silent	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:27075426C>G	ENST00000262395.5	+	5	738	c.609C>G	c.(607-609)gtC>gtG	p.V203V	TRAF4_ENST00000444415.3_Silent_p.V203V|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000262396.6_Intron|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	203					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGGAGTTCGTCTTTGACACCA	0.597																																																	0													77.0	59.0	65.0					17																	27075426		2203	4300	6503	SO:0001819	synonymous_variant	9618			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.609C>G	17.37:g.27075426C>G			O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.V203	ENST00000262395.5	37	c.609	CCDS11243.1	17																																																																																			TRAF4	-	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF		0.597	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	C	NM_145751		27075426	+1	no_errors	ENST00000262395	ensembl	human	known	70_37	silent	SNP	1.000	G
TRAF4	9618	genome.wustl.edu	37	17	27075426	27075426	+	Silent	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:27075426C>G	ENST00000262395.5	+	5	738	c.609C>G	c.(607-609)gtC>gtG	p.V203V	TRAF4_ENST00000444415.3_Silent_p.V203V|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000262396.6_Intron|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	203					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGGAGTTCGTCTTTGACACCA	0.597																																																	0													77.0	59.0	65.0					17																	27075426		2203	4300	6503	SO:0001819	synonymous_variant	9618			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.609C>G	17.37:g.27075426C>G			O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.V203	ENST00000262395.5	37	c.609	CCDS11243.1	17																																																																																			TRAF4	-	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF		0.597	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	C	NM_145751		27075426	+1	no_errors	ENST00000262395	ensembl	human	known	70_37	silent	SNP	1.000	G
TSSC1	7260	genome.wustl.edu	37	2	3323593	3323594	+	Intron	DNP	CA	CA	TG	rs77742143|rs368613817|rs71412006		TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:3323593_3323594CA>TG	ENST00000382125.4	-	3	452				TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000443925.2_Intron|TSSC1_ENST00000398659.4_Intron	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1											breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		ACCGCACCTGCAGGCAGGGCAA	0.653																																					Colon(140;1261 1762 4183 34270 49743)												0																																										SO:0001627	intron_variant	7260			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.260_260delinsTG	2.37:g.3323593_3323594delinsTG			D6W4Y1|O43179|Q53S19|Q53SG2	RNA	SNP	-	NULL	ENST00000382125.4	37	NULL	CCDS1651.1	2																																																																																			TSSC1	-	-		0.653	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	HGNC	protein_coding	OTTHUMT00000206694.2	C|A	NM_003310		3323593|3323594	-1	no_errors	ENST00000478754	ensembl	human	known	70_37	rna	SNP	0.996|0.987	T|G
TUBA3C	7278	genome.wustl.edu	37	13	19751573	19751573	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr13:19751573G>T	ENST00000400113.3	-	4	654	c.550C>A	c.(550-552)Ccc>Acc	p.P184T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	184					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGTTGTAGGGCTCCACCACG	0.547																																																	0													155.0	155.0	155.0					13																	19751573		2203	4300	6503	SO:0001583	missense	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.550C>A	13.37:g.19751573G>T	ENSP00000382982:p.Pro184Thr		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.P184T	ENST00000400113.3	37	c.550	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	g	10.46	1.356373	0.24598	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.70986	-0.53	1.19	1.19	0.21007	.	0.000000	0.47852	U	0.000215	T	0.73923	0.3649	.	.	.	0.44234	D	0.997074	.	.	.	.	.	.	T	0.74928	-0.3497	7	0.87932	D	0	.	8.3041	0.32032	0.0:0.0:1.0:0.0	.	.	.	.	T	184	ENSP00000382982:P184T	ENSP00000354037:P184T	P	-	1	0	TUBA3C	18649573	1.000000	0.71417	0.998000	0.56505	0.471000	0.32888	7.867000	0.87062	0.966000	0.38159	0.162000	0.16502	CCC	TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	G	NM_006001		19751573	-1	no_errors	ENST00000400113	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBA3C	7278	genome.wustl.edu	37	13	19751573	19751573	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr13:19751573G>T	ENST00000400113.3	-	4	654	c.550C>A	c.(550-552)Ccc>Acc	p.P184T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	184					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGTTGTAGGGCTCCACCACG	0.547																																																	0													155.0	155.0	155.0					13																	19751573		2203	4300	6503	SO:0001583	missense	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.550C>A	13.37:g.19751573G>T	ENSP00000382982:p.Pro184Thr		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.P184T	ENST00000400113.3	37	c.550	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	g	10.46	1.356373	0.24598	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.70986	-0.53	1.19	1.19	0.21007	.	0.000000	0.47852	U	0.000215	T	0.73923	0.3649	.	.	.	0.44234	D	0.997074	.	.	.	.	.	.	T	0.74928	-0.3497	7	0.87932	D	0	.	8.3041	0.32032	0.0:0.0:1.0:0.0	.	.	.	.	T	184	ENSP00000382982:P184T	ENSP00000354037:P184T	P	-	1	0	TUBA3C	18649573	1.000000	0.71417	0.998000	0.56505	0.471000	0.32888	7.867000	0.87062	0.966000	0.38159	0.162000	0.16502	CCC	TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	G	NM_006001		19751573	-1	no_errors	ENST00000400113	ensembl	human	known	70_37	missense	SNP	1.000	T
SBDS	51119	genome.wustl.edu	37	7	66460413	66460413	+	5'UTR	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr7:66460413T>C	ENST00000246868.2	-	0	175				TYW1_ENST00000359626.5_5'Flank|TYW1_ENST00000491969.1_3'UTR	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome						bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						ATCGCGGCTGTTCAAAGACCC	0.652			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																														yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0													39.0	38.0	38.0					7																	66460413		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55253	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.-9A>G	7.37:g.66460413T>C			A8K0P4|Q96FX0|Q9NV53	RNA	SNP	-	NULL	ENST00000246868.2	37	NULL	CCDS5537.1	7																																																																																			TYW1	-	-		0.652	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW1	HGNC	protein_coding	OTTHUMT00000251746.2	T	NM_016038		66460413	+1	no_errors	ENST00000491969	ensembl	human	known	70_37	rna	SNP	0.904	C
UBAP2L	9898	genome.wustl.edu	37	1	154241746	154241746	+	Intron	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:154241746C>G	ENST00000361546.2	+	25	3210				UBAP2L_ENST00000428931.1_Intron|UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000271877.7_Intron			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like						binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCCTTCCCTCTTCCCTGACA	0.483																																																	0																																										SO:0001627	intron_variant	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.3168+316C>G	1.37:g.154241746C>G			B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	RNA	SNP	-	NULL	ENST00000361546.2	37	NULL	CCDS1063.1	1																																																																																			UBAP2L	-	-		0.483	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	C	NM_014847		154241746	+1	no_errors	ENST00000484819	ensembl	human	known	70_37	rna	SNP	0.833	G
UBAP2L	9898	genome.wustl.edu	37	1	154241823	154241823	+	Intron	SNP	C	C	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:154241823C>A	ENST00000361546.2	+	25	3210				UBAP2L_ENST00000428931.1_Intron|UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000271877.7_Intron			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like						binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCATATATCCTGGTTCTGCC	0.443																																																	0																																										SO:0001627	intron_variant	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.3168+393C>A	1.37:g.154241823C>A			B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	RNA	SNP	-	NULL	ENST00000361546.2	37	NULL	CCDS1063.1	1																																																																																			UBAP2L	-	-		0.443	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	C	NM_014847		154241823	+1	no_errors	ENST00000484819	ensembl	human	known	70_37	rna	SNP	1.000	A
UBAP2L	9898	genome.wustl.edu	37	1	154241829	154241829	+	Intron	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr1:154241829C>T	ENST00000361546.2	+	25	3210				UBAP2L_ENST00000428931.1_Intron|UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000271877.7_Intron			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like						binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TATCCTGGTTCTGCCTCAGCT	0.443																																																	0																																										SO:0001627	intron_variant	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.3168+399C>T	1.37:g.154241829C>T			B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	RNA	SNP	-	NULL	ENST00000361546.2	37	NULL	CCDS1063.1	1																																																																																			UBAP2L	-	-		0.443	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	C	NM_014847		154241829	+1	no_errors	ENST00000484819	ensembl	human	known	70_37	rna	SNP	1.000	T
ULK4	54986	genome.wustl.edu	37	3	41291022	41291022	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr3:41291022C>T	ENST00000301831.4	-	36	4184	c.3722G>A	c.(3721-3723)gGc>gAc	p.G1241D	CTNNB1_ENST00000471014.1_Intron|ULK4_ENST00000489118.1_5'UTR	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1241					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAGGAGGCTGCCTGCATTCTT	0.602																																																	0													38.0	40.0	40.0					3																	41291022		1994	4178	6172	SO:0001583	missense	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3722G>A	3.37:g.41291022C>T	ENSP00000301831:p.Gly1241Asp		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G1241D	ENST00000301831.4	37	c.3722	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884169	0.33255	.	.	ENSG00000168038	ENST00000301831	T	0.63744	-0.06	5.18	-0.164	0.13359	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.40670	0.1126	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18272	-1.0342	9	0.18710	T	0.47	.	2.522	0.04682	0.1296:0.5293:0.1256:0.2155	.	1241	Q96C45	ULK4_HUMAN	D	1241	ENSP00000301831:G1241D	ENSP00000301831:G1241D	G	-	2	0	ULK4	41266026	0.000000	0.05858	0.001000	0.08648	0.309000	0.27889	0.731000	0.26058	-0.054000	0.13266	-0.137000	0.14449	GGC	ULK4	-	superfamily_ARM-type_fold		0.602	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	C	XM_929989		41291022	-1	no_errors	ENST00000301831	ensembl	human	known	70_37	missense	SNP	0.000	T
UNK	85451	genome.wustl.edu	37	17	73819469	73819469	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:73819469G>A	ENST00000589666.1	+	15	2253	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	UNK_ENST00000293218.3_Missense_Mutation_p.E791K	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	715							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGCTCCAGGAGGAGCTGGA	0.711																																																	0													11.0	16.0	14.0					17																	73819469		1945	4145	6090	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.2143G>A	17.37:g.73819469G>A	ENSP00000464893:p.Glu715Lys			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E791K	ENST00000589666.1	37	c.2371	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322444	0.81580	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	L	0.55481	1.735	0.58432	D	0.999999	P	0.51791	0.948	B	0.43783	0.431	T	0.59150	-0.7508	9	0.34782	T	0.22	-0.9043	17.6275	0.88097	0.0:0.0:1.0:0.0	.	715	Q9C0B0	UNK_HUMAN	K	791	.	ENSP00000293218:E791K	E	+	1	0	UNK	71331064	1.000000	0.71417	0.992000	0.48379	0.591000	0.36615	7.102000	0.77005	2.388000	0.81334	0.563000	0.77884	GAG	UNK	-	NULL		0.711	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	G	NM_001080419		73819469	+1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	1.000	A
UNK	85451	genome.wustl.edu	37	17	73819469	73819469	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:73819469G>A	ENST00000589666.1	+	15	2253	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	UNK_ENST00000293218.3_Missense_Mutation_p.E791K	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	715							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGCTCCAGGAGGAGCTGGA	0.711																																																	0													11.0	16.0	14.0					17																	73819469		1945	4145	6090	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.2143G>A	17.37:g.73819469G>A	ENSP00000464893:p.Glu715Lys			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E791K	ENST00000589666.1	37	c.2371	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322444	0.81580	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	L	0.55481	1.735	0.58432	D	0.999999	P	0.51791	0.948	B	0.43783	0.431	T	0.59150	-0.7508	9	0.34782	T	0.22	-0.9043	17.6275	0.88097	0.0:0.0:1.0:0.0	.	715	Q9C0B0	UNK_HUMAN	K	791	.	ENSP00000293218:E791K	E	+	1	0	UNK	71331064	1.000000	0.71417	0.992000	0.48379	0.591000	0.36615	7.102000	0.77005	2.388000	0.81334	0.563000	0.77884	GAG	UNK	-	NULL		0.711	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	G	NM_001080419		73819469	+1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	1.000	A
UXT	8409	genome.wustl.edu	37	X	47518369	47518369	+	Intron	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:47518369C>T	ENST00000333119.3	-	2	47				RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000335890.2_5'UTR|UXT_ENST00000460840.1_5'Flank|RP1-212G6.7_ENST00000591832.1_RNA	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone						centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						CCATGTTGACCGATCCAGTTT	0.637																																																	0													64.0	49.0	54.0					X																	47518369		2203	4300	6503	SO:0001627	intron_variant	8409			AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.9-34G>A	X.37:g.47518369C>T			B2R561|Q5JZG3|Q9Y6E5	RNA	SNP	-	NULL	ENST00000333119.3	37	NULL	CCDS14285.1	X																																																																																			UXT	-	-		0.637	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UXT	HGNC	protein_coding	OTTHUMT00000056440.1	C	NM_153477		47518369	-1	no_errors	ENST00000485641	ensembl	human	known	70_37	rna	SNP	0.011	T
UXT	8409	genome.wustl.edu	37	X	47518369	47518369	+	Intron	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:47518369C>T	ENST00000333119.3	-	2	47				RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000335890.2_5'UTR|UXT_ENST00000460840.1_5'Flank|RP1-212G6.7_ENST00000591832.1_RNA	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone						centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						CCATGTTGACCGATCCAGTTT	0.637																																																	0													64.0	49.0	54.0					X																	47518369		2203	4300	6503	SO:0001627	intron_variant	8409			AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.9-34G>A	X.37:g.47518369C>T			B2R561|Q5JZG3|Q9Y6E5	RNA	SNP	-	NULL	ENST00000333119.3	37	NULL	CCDS14285.1	X																																																																																			UXT	-	-		0.637	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UXT	HGNC	protein_coding	OTTHUMT00000056440.1	C	NM_153477		47518369	-1	no_errors	ENST00000485641	ensembl	human	known	70_37	rna	SNP	0.011	T
USP26	83844	genome.wustl.edu	37	X	132161143	132161143	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:132161143G>T	ENST00000511190.1	-	6	1575	c.1106C>A	c.(1105-1107)tCa>tAa	p.S369*	USP26_ENST00000406273.1_Nonsense_Mutation_p.S369*|USP26_ENST00000370832.1_Nonsense_Mutation_p.S369*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	369	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TGCAGCTGCTGAAATGGCCTT	0.368																																					NSCLC(104;342 1621 36940 47097 52632)												0													74.0	72.0	72.0					X																	132161143		2203	4299	6502	SO:0001587	stop_gained	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1106C>A	X.37:g.132161143G>T	ENSP00000423390:p.Ser369*		B9WRT6|Q5H9H4	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S369*	ENST00000511190.1	37	c.1106	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	g	28.8	4.951905	0.92660	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	.	.	.	3.78	3.78	0.43462	.	0.335082	0.19288	N	0.117994	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5724	12.7116	0.57092	0.0:0.0:1.0:0.0	.	.	.	.	X	369	.	ENSP00000359869:S369X	S	-	2	0	USP26	131988809	1.000000	0.71417	0.007000	0.13788	0.006000	0.05464	7.088000	0.76901	2.155000	0.67459	0.519000	0.50382	TCA	USP26	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.368	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	G	NM_031907		132161143	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	nonsense	SNP	0.047	T
USP26	83844	genome.wustl.edu	37	X	132161143	132161143	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chrX:132161143G>T	ENST00000511190.1	-	6	1575	c.1106C>A	c.(1105-1107)tCa>tAa	p.S369*	USP26_ENST00000406273.1_Nonsense_Mutation_p.S369*|USP26_ENST00000370832.1_Nonsense_Mutation_p.S369*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	369	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TGCAGCTGCTGAAATGGCCTT	0.368																																					NSCLC(104;342 1621 36940 47097 52632)												0													74.0	72.0	72.0					X																	132161143		2203	4299	6502	SO:0001587	stop_gained	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1106C>A	X.37:g.132161143G>T	ENSP00000423390:p.Ser369*		B9WRT6|Q5H9H4	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S369*	ENST00000511190.1	37	c.1106	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	g	28.8	4.951905	0.92660	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	.	.	.	3.78	3.78	0.43462	.	0.335082	0.19288	N	0.117994	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5724	12.7116	0.57092	0.0:0.0:1.0:0.0	.	.	.	.	X	369	.	ENSP00000359869:S369X	S	-	2	0	USP26	131988809	1.000000	0.71417	0.007000	0.13788	0.006000	0.05464	7.088000	0.76901	2.155000	0.67459	0.519000	0.50382	TCA	USP26	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.368	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	G	NM_031907		132161143	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	nonsense	SNP	0.047	T
VMP1	81671	genome.wustl.edu	37	17	57915144	57915144	+	Intron	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr17:57915144G>A	ENST00000262291.4	+	11	1284				VMP1_ENST00000537567.1_Intron|VMP1_ENST00000539763.1_Intron|VMP1_ENST00000536180.1_Intron|VMP1_ENST00000545362.1_Intron	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1						autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CGCCCCCTCTGAGAAGAGGGG	0.443																																																	0																																										SO:0001627	intron_variant	81671				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.975-512G>A	17.37:g.57915144G>A			B4DVV9|Q9H0P4|Q9P089	RNA	SNP	-	NULL	ENST00000262291.4	37	NULL	CCDS11619.1	17																																																																																			VMP1	-	-		0.443	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	G	NM_030938		57915144	+1	no_errors	ENST00000591782	ensembl	human	known	70_37	rna	SNP	1.000	A
WDR31	114987	genome.wustl.edu	37	9	116098697	116098697	+	5'UTR	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr9:116098697C>G	ENST00000374193.4	-	0	89				WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000341761.4_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31											NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AAGTTAATCTCTTCTCTGTCT	0.358																																																	0																																										SO:0001623	5_prime_UTR_variant	114987			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.-158G>C	9.37:g.116098697C>G			Q5W0T9|Q96EG8	RNA	SNP	-	NULL	ENST00000374193.4	37	NULL	CCDS35110.1	9																																																																																			WDR31	-	-		0.358	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR31	HGNC	protein_coding	OTTHUMT00000053734.2	C	NM_145241		116098697	-1	no_errors	ENST00000461942	ensembl	human	known	70_37	rna	SNP	0.975	G
ZBTB7C	201501	genome.wustl.edu	37	18	45555962	45555962	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr18:45555962G>A	ENST00000588982.1	-	4	2030	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.A510V|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.A510V|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.A510V|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.A510V			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	510							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTCGCCCAGCGCAGGGGGCAT	0.786																																																	0													3.0	4.0	3.0					18																	45555962		1634	3343	4977	SO:0001583	missense	201501			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1529C>T	18.37:g.45555962G>A	ENSP00000468782:p.Ala510Val		O73453	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A510V	ENST00000588982.1	37	c.1529	CCDS32830.1	18	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866608	0.32977	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.12672	2.66;2.66	4.51	4.51	0.55191	.	0.187337	0.26156	N	0.026010	T	0.09379	0.0231	N	0.14661	0.345	0.20403	N	0.999906	B;B	0.15141	0.012;0.012	B;B	0.10450	0.005;0.005	T	0.22556	-1.0213	10	0.56958	D	0.05	.	13.0174	0.58766	0.0:0.1624:0.8376:0.0	.	510;510	B2RG49;A1YPR0	.;ZBT7C_HUMAN	V	510	ENSP00000439781:A510V;ENSP00000328732:A510V	ENSP00000328732:A510V	A	-	2	0	ZBTB7C	43809960	0.875000	0.30112	0.976000	0.42696	0.449000	0.32228	3.698000	0.54771	2.059000	0.61396	0.555000	0.69702	GCG	ZBTB7C	-	NULL		0.786	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB7C	HGNC	protein_coding	OTTHUMT00000450731.1	G	NM_001039360		45555962	-1	no_errors	ENST00000332053	ensembl	human	known	70_37	missense	SNP	0.340	A
ZC2HC1A	51101	genome.wustl.edu	37	8	79598747	79598747	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:79598747G>A	ENST00000263849.4	+	4	358	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	86							metal ion binding (GO:0046872)										GAAACATGAAGAATTCATTGC	0.363																																																	0													64.0	57.0	60.0					8																	79598747		2203	4300	6503	SO:0001583	missense	51101				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.256G>A	8.37:g.79598747G>A	ENSP00000263849:p.Glu86Lys		Q9Y372	Missense_Mutation	SNP	NULL	p.E86K	ENST00000263849.4	37	c.256	CCDS6223.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.300649	0.95601	.	.	ENSG00000104427	ENST00000263849	T	0.46451	0.87	5.35	5.35	0.76521	.	0.046777	0.85682	D	0.000000	T	0.59418	0.2192	L	0.55743	1.74	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.54918	-0.8221	9	.	.	.	-34.0506	19.429	0.94756	0.0:0.0:1.0:0.0	.	86	Q96GY0	F164A_HUMAN	K	86	ENSP00000263849:E86K	.	E	+	1	0	FAM164A	79761302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.116000	0.94341	2.667000	0.90743	0.585000	0.79938	GAA	ZC2HC1A	-	NULL		0.363	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1A	HGNC	protein_coding	OTTHUMT00000379423.2	G	NM_016010		79598747	+1	no_errors	ENST00000263849	ensembl	human	known	70_37	missense	SNP	1.000	A
ZC2HC1A	51101	genome.wustl.edu	37	8	79598747	79598747	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr8:79598747G>A	ENST00000263849.4	+	4	358	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	86							metal ion binding (GO:0046872)										GAAACATGAAGAATTCATTGC	0.363																																																	0													64.0	57.0	60.0					8																	79598747		2203	4300	6503	SO:0001583	missense	51101				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.256G>A	8.37:g.79598747G>A	ENSP00000263849:p.Glu86Lys		Q9Y372	Missense_Mutation	SNP	NULL	p.E86K	ENST00000263849.4	37	c.256	CCDS6223.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.300649	0.95601	.	.	ENSG00000104427	ENST00000263849	T	0.46451	0.87	5.35	5.35	0.76521	.	0.046777	0.85682	D	0.000000	T	0.59418	0.2192	L	0.55743	1.74	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.54918	-0.8221	9	.	.	.	-34.0506	19.429	0.94756	0.0:0.0:1.0:0.0	.	86	Q96GY0	F164A_HUMAN	K	86	ENSP00000263849:E86K	.	E	+	1	0	FAM164A	79761302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.116000	0.94341	2.667000	0.90743	0.585000	0.79938	GAA	ZC2HC1A	-	NULL		0.363	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1A	HGNC	protein_coding	OTTHUMT00000379423.2	G	NM_016010		79598747	+1	no_errors	ENST00000263849	ensembl	human	known	70_37	missense	SNP	1.000	A
ZDBF2	57683	genome.wustl.edu	37	2	207173954	207173954	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:207173954A>C	ENST00000374423.3	+	5	5088	c.4702A>C	c.(4702-4704)Att>Ctt	p.I1568L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1568							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TACAGAATGTATTGATATAGA	0.358																																																	0													25.0	26.0	26.0					2																	207173954		1840	4084	5924	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4702A>C	2.37:g.207173954A>C	ENSP00000363545:p.Ile1568Leu		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.I1568L	ENST00000374423.3	37	c.4702	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	A	0.367	-0.935943	0.02340	.	.	ENSG00000204186	ENST00000374423	T	0.37752	1.18	3.93	-1.57	0.08506	.	.	.	.	.	T	0.15392	0.0371	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29458	-1.0011	9	0.07813	T	0.8	.	0.4503	0.00500	0.2686:0.1844:0.1329:0.4141	.	1568	Q9HCK1	ZDBF2_HUMAN	L	1568	ENSP00000363545:I1568L	ENSP00000363545:I1568L	I	+	1	0	ZDBF2	206882199	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.145000	0.16157	-0.257000	0.09459	-0.250000	0.11733	ATT	ZDBF2	-	NULL		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	A	NM_020923		207173954	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.000	C
ZDBF2	57683	genome.wustl.edu	37	2	207173954	207173954	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr2:207173954A>C	ENST00000374423.3	+	5	5088	c.4702A>C	c.(4702-4704)Att>Ctt	p.I1568L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1568							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TACAGAATGTATTGATATAGA	0.358																																																	0													25.0	26.0	26.0					2																	207173954		1840	4084	5924	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4702A>C	2.37:g.207173954A>C	ENSP00000363545:p.Ile1568Leu		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.I1568L	ENST00000374423.3	37	c.4702	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	A	0.367	-0.935943	0.02340	.	.	ENSG00000204186	ENST00000374423	T	0.37752	1.18	3.93	-1.57	0.08506	.	.	.	.	.	T	0.15392	0.0371	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29458	-1.0011	9	0.07813	T	0.8	.	0.4503	0.00500	0.2686:0.1844:0.1329:0.4141	.	1568	Q9HCK1	ZDBF2_HUMAN	L	1568	ENSP00000363545:I1568L	ENSP00000363545:I1568L	I	+	1	0	ZDBF2	206882199	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.145000	0.16157	-0.257000	0.09459	-0.250000	0.11733	ATT	ZDBF2	-	NULL		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	A	NM_020923		207173954	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF566	84924	genome.wustl.edu	37	19	36940268	36940268	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:36940268T>C	ENST00000434377.2	-	5	949	c.868A>G	c.(868-870)Aag>Gag	p.K290E	ZNF566_ENST00000493391.1_Missense_Mutation_p.K186E|ZNF566_ENST00000424129.2_Missense_Mutation_p.K290E|ZNF566_ENST00000454319.1_Missense_Mutation_p.K291E|ZNF566_ENST00000392170.2_Missense_Mutation_p.K291E	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CTAAAGGCCTTCCCGCATTCT	0.418																																																	0													93.0	93.0	93.0					19																	36940268		2203	4300	6503	SO:0001583	missense	84924			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.868A>G	19.37:g.36940268T>C	ENSP00000415520:p.Lys290Glu		B7ZL95|Q2M3J1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K291E	ENST00000434377.2	37	c.871	CCDS12494.1	19	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953276	0.73902	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000220	T	0.60945	0.2308	M	0.82923	2.615	0.32283	N	0.567373	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.72408	-0.4303	10	0.72032	D	0.01	.	12.1713	0.54160	0.0:0.0:0.0:1.0	.	291;290	B7ZL95;Q969W8	.;ZN566_HUMAN	E	291;290;291;290	ENSP00000394207:K291E;ENSP00000415520:K290E;ENSP00000376010:K291E;ENSP00000401259:K290E	ENSP00000376010:K291E	K	-	1	0	ZNF566	41632108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.886000	0.56190	1.775000	0.52247	0.454000	0.30748	AAG	ZNF566	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1	T	NM_032838		36940268	-1	no_errors	ENST00000392170	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF566	84924	genome.wustl.edu	37	19	36940268	36940268	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:36940268T>C	ENST00000434377.2	-	5	949	c.868A>G	c.(868-870)Aag>Gag	p.K290E	ZNF566_ENST00000493391.1_Missense_Mutation_p.K186E|ZNF566_ENST00000424129.2_Missense_Mutation_p.K290E|ZNF566_ENST00000454319.1_Missense_Mutation_p.K291E|ZNF566_ENST00000392170.2_Missense_Mutation_p.K291E	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CTAAAGGCCTTCCCGCATTCT	0.418																																																	0													93.0	93.0	93.0					19																	36940268		2203	4300	6503	SO:0001583	missense	84924			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.868A>G	19.37:g.36940268T>C	ENSP00000415520:p.Lys290Glu		B7ZL95|Q2M3J1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K291E	ENST00000434377.2	37	c.871	CCDS12494.1	19	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953276	0.73902	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000220	T	0.60945	0.2308	M	0.82923	2.615	0.32283	N	0.567373	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.72408	-0.4303	10	0.72032	D	0.01	.	12.1713	0.54160	0.0:0.0:0.0:1.0	.	291;290	B7ZL95;Q969W8	.;ZN566_HUMAN	E	291;290;291;290	ENSP00000394207:K291E;ENSP00000415520:K290E;ENSP00000376010:K291E;ENSP00000401259:K290E	ENSP00000376010:K291E	K	-	1	0	ZNF566	41632108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.886000	0.56190	1.775000	0.52247	0.454000	0.30748	AAG	ZNF566	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1	T	NM_032838		36940268	-1	no_errors	ENST00000392170	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF569	148266	genome.wustl.edu	37	19	37903935	37903935	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:37903935C>G	ENST00000316950.6	-	6	2182	c.1625G>C	c.(1624-1626)aGa>aCa	p.R542T	ZNF569_ENST00000392150.2_Missense_Mutation_p.R383T|ZNF569_ENST00000392149.2_Missense_Mutation_p.R542T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATGACTTCTCAAATGAAG	0.378																																																	0													98.0	96.0	97.0					19																	37903935		2203	4299	6502	SO:0001583	missense	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1625G>C	19.37:g.37903935C>G	ENSP00000325018:p.Arg542Thr		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R542T	ENST00000316950.6	37	c.1625	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764579	0.49574	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.25414	1.8;4.3	4.1	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41328	0.1154	L	0.53249	1.67	0.35508	D	0.800376	D;D	0.67145	0.996;0.996	D;D	0.64144	0.922;0.922	T	0.53222	-0.8469	9	0.72032	D	0.01	.	10.9189	0.47152	0.1881:0.8119:0.0:0.0	.	383;542	Q17RR6;Q5MCW4	.;ZN569_HUMAN	T	542;198;383	ENSP00000325018:R542T;ENSP00000375993:R383T	ENSP00000325018:R542T	R	-	2	0	ZNF569	42595775	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.748000	0.26305	2.261000	0.74972	0.655000	0.94253	AGA	ZNF569	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	C	NM_152484		37903935	-1	no_errors	ENST00000316950	ensembl	human	known	70_37	missense	SNP	0.997	G
ZNF569	148266	genome.wustl.edu	37	19	37903935	37903935	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:37903935C>G	ENST00000316950.6	-	6	2182	c.1625G>C	c.(1624-1626)aGa>aCa	p.R542T	ZNF569_ENST00000392150.2_Missense_Mutation_p.R383T|ZNF569_ENST00000392149.2_Missense_Mutation_p.R542T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATGACTTCTCAAATGAAG	0.378																																																	0													98.0	96.0	97.0					19																	37903935		2203	4299	6502	SO:0001583	missense	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1625G>C	19.37:g.37903935C>G	ENSP00000325018:p.Arg542Thr		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R542T	ENST00000316950.6	37	c.1625	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764579	0.49574	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.25414	1.8;4.3	4.1	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41328	0.1154	L	0.53249	1.67	0.35508	D	0.800376	D;D	0.67145	0.996;0.996	D;D	0.64144	0.922;0.922	T	0.53222	-0.8469	9	0.72032	D	0.01	.	10.9189	0.47152	0.1881:0.8119:0.0:0.0	.	383;542	Q17RR6;Q5MCW4	.;ZN569_HUMAN	T	542;198;383	ENSP00000325018:R542T;ENSP00000375993:R383T	ENSP00000325018:R542T	R	-	2	0	ZNF569	42595775	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.748000	0.26305	2.261000	0.74972	0.655000	0.94253	AGA	ZNF569	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	C	NM_152484		37903935	-1	no_errors	ENST00000316950	ensembl	human	known	70_37	missense	SNP	0.997	G
ZNF470	388566	genome.wustl.edu	37	19	57088530	57088530	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:57088530C>T	ENST00000330619.8	+	6	1419	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L245F	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AACCCTTACTCTTCACCAAAG	0.378																																																	0													55.0	59.0	58.0					19																	57088530		2200	4300	6500	SO:0001583	missense	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.733C>T	19.37:g.57088530C>T	ENSP00000333223:p.Leu245Phe		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L245F	ENST00000330619.8	37	c.733	CCDS33122.1	19	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387608	0.25031	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.18016	2.24;2.24	4.01	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28699	0.0711	L	0.43646	1.37	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.05241	-1.0897	9	0.54805	T	0.06	.	7.0421	0.25025	0.2795:0.4284:0.2921:0.0	.	245	Q6ECI4	ZN470_HUMAN	F	245	ENSP00000375590:L245F;ENSP00000333223:L245F	ENSP00000333223:L245F	L	+	1	0	ZNF470	61780342	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	-1.805000	0.01737	0.874000	0.35823	0.460000	0.39030	CTT	ZNF470	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	C	NM_001001668		57088530	+1	no_errors	ENST00000330619	ensembl	human	known	70_37	missense	SNP	0.017	T
ZNF470	388566	genome.wustl.edu	37	19	57088530	57088530	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:57088530C>T	ENST00000330619.8	+	6	1419	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L245F	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AACCCTTACTCTTCACCAAAG	0.378																																																	0													55.0	59.0	58.0					19																	57088530		2200	4300	6500	SO:0001583	missense	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.733C>T	19.37:g.57088530C>T	ENSP00000333223:p.Leu245Phe		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L245F	ENST00000330619.8	37	c.733	CCDS33122.1	19	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387608	0.25031	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.18016	2.24;2.24	4.01	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28699	0.0711	L	0.43646	1.37	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.05241	-1.0897	9	0.54805	T	0.06	.	7.0421	0.25025	0.2795:0.4284:0.2921:0.0	.	245	Q6ECI4	ZN470_HUMAN	F	245	ENSP00000375590:L245F;ENSP00000333223:L245F	ENSP00000333223:L245F	L	+	1	0	ZNF470	61780342	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	-1.805000	0.01737	0.874000	0.35823	0.460000	0.39030	CTT	ZNF470	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	C	NM_001001668		57088530	+1	no_errors	ENST00000330619	ensembl	human	known	70_37	missense	SNP	0.017	T
ZSCAN18	65982	genome.wustl.edu	37	19	58596432	58596432	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:58596432C>T	ENST00000240727.6	-	7	1552	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.V441I|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.V385I|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.V249I	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	385					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAGCTAGAGACGCCCTCGAGG	0.726																																																	0													16.0	19.0	18.0					19																	58596432		2202	4296	6498	SO:0001583	missense	65982			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1153G>A	19.37:g.58596432C>T	ENSP00000240727:p.Val385Ile		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.V441I	ENST00000240727.6	37	c.1321	CCDS12971.1	19	.	.	.	.	.	.	.	.	.	.	C	7.369	0.626388	0.14257	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02369	4.58;4.32	3.09	-0.412	0.12367	.	3.226770	0.01261	N	0.009199	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.33494	0.291;0.056;0.414;0.291	B;B;B;B	0.17979	0.015;0.005;0.02;0.009	T	0.40346	-0.9568	10	0.22706	T	0.39	0.3632	0.505	0.00586	0.1943:0.347:0.2077:0.2511	.	441;249;384;385	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	I	441;385;249	ENSP00000240727:V385I;ENSP00000392653:V249I	ENSP00000240727:V385I	V	-	1	0	ZSCAN18	63288244	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.004000	0.13106	0.004000	0.14682	0.313000	0.20887	GTC	ZSCAN18	-	NULL		0.726	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	C	NM_023926		58596432	-1	no_errors	ENST00000600404	ensembl	human	known	70_37	missense	SNP	0.000	T
ZSCAN18	65982	genome.wustl.edu	37	19	58596432	58596432	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BN-01B-11D-A14W-08	TCGA-C5-A1BN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a75ef01b-8448-4722-a6ae-de766b76c1d8	e5fd677c-5932-4462-b28b-f47c9c1b3935	g.chr19:58596432C>T	ENST00000240727.6	-	7	1552	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.V441I|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.V385I|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.V249I	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	385					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAGCTAGAGACGCCCTCGAGG	0.726																																																	0													16.0	19.0	18.0					19																	58596432		2202	4296	6498	SO:0001583	missense	65982			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1153G>A	19.37:g.58596432C>T	ENSP00000240727:p.Val385Ile		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.V441I	ENST00000240727.6	37	c.1321	CCDS12971.1	19	.	.	.	.	.	.	.	.	.	.	C	7.369	0.626388	0.14257	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02369	4.58;4.32	3.09	-0.412	0.12367	.	3.226770	0.01261	N	0.009199	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.33494	0.291;0.056;0.414;0.291	B;B;B;B	0.17979	0.015;0.005;0.02;0.009	T	0.40346	-0.9568	10	0.22706	T	0.39	0.3632	0.505	0.00586	0.1943:0.347:0.2077:0.2511	.	441;249;384;385	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	I	441;385;249	ENSP00000240727:V385I;ENSP00000392653:V249I	ENSP00000240727:V385I	V	-	1	0	ZSCAN18	63288244	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.004000	0.13106	0.004000	0.14682	0.313000	0.20887	GTC	ZSCAN18	-	NULL		0.726	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	C	NM_023926		58596432	-1	no_errors	ENST00000600404	ensembl	human	known	70_37	missense	SNP	0.000	T
