#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
PTGES3L	100885848	genome.wustl.edu	37	17	41123659	41123659	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:41123659C>G	ENST00000453594.1	-	4	718	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.E158Q|PTGES3L_ENST00000409446.3_Missense_Mutation_p.E120Q|PTGES3L-AARSD1_ENST00000409103.1_Intron|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.E97Q|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.E158Q	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	125	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.																AGCTCCATCTCTTCATCCCCT	0.512																																						dbGAP											0													202.0	164.0	177.0					17																	41123659		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.373G>C	17.37:g.41123659C>G	ENSP00000394415:p.Glu125Gln			Missense_Mutation	SNP	pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core	p.E158Q	ENST00000453594.1	37	c.472		17	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	26.0|26.0|26.0	4.697622|4.697622|4.697622	0.88830|0.88830|0.88830	.|.|.	.|.|.	ENSG00000108825|ENSG00000108825|ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000454303;ENST00000453594;ENST00000409446|ENST00000424284|ENST00000452752	T;T;T;T;T;T|.|.	0.34667|.|.	1.35;1.35;1.35;1.35;1.35;1.35|.|.	5.18|5.18|5.18	5.18|5.18|5.18	0.71444|0.71444|0.71444	.|.|.	0.118397|.|.	0.56097|.|.	D|.|.	0.000024|.|.	T|T|T	0.61035|0.61035|0.61035	0.2315|0.2315|0.2315	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	.|.|.	.|.|.	.|.|.	D;D;D;D|.|.	0.71674|.|.	0.997;0.998;0.996;0.991|.|.	D;D;D;D|.|.	0.80764|.|.	0.986;0.994;0.96;0.929|.|.	T|T|T	0.56583|0.56583|0.56583	-0.7955|-0.7955|-0.7955	9|4|4	0.42905|.|.	T|.|.	0.14|.|.	-29.8966|-29.8966|-29.8966	18.8761|18.8761|18.8761	0.92337|0.92337|0.92337	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	125;120;158;115|.|.	E9PB15;B9A003;B4DI73;B3KSP9|.|.	.;.;.;.|.|.	Q|N|T	97;158;158;97;125;120|86|86	ENSP00000353355:E97Q;ENSP00000386621:E158Q;ENSP00000409924:E158Q;ENSP00000407951:E97Q;ENSP00000394415:E125Q;ENSP00000386902:E120Q|.|.	ENSP00000353355:E97Q|.|.	E|K|R	-|-|-	1|3|2	0|2|0	AARSD1|AARSD1|AARSD1	38377185|38377185|38377185	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.937000|0.937000|0.937000	0.37676|0.37676|0.37676	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	6.255000|6.255000|6.255000	0.72466|0.72466|0.72466	2.693000|2.693000|2.693000	0.91896|0.91896|0.91896	0.542000|0.542000|0.542000	0.68232|0.68232|0.68232	GAG|AAG|AGA	AARSD1	-	NULL	ENSG00000108825		0.512	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	AARSD1	HGNC	protein_coding		119	0.00	0	C	NM_001142653		41123659	41123659	-1	no_errors	ENST00000409399	ensembl	human	known	69_37n	missense	34	62.64	57	SNP	1.000	G
ABCA10	10349	genome.wustl.edu	37	17	67148188	67148188	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:67148188C>G	ENST00000269081.4	-	37	5302	c.4393G>C	c.(4393-4395)Gaa>Caa	p.E1465Q	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1465					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTTTACCTTTCCTGCCAAGCA	0.403																																						dbGAP											0													121.0	124.0	123.0					17																	67148188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4393G>C	17.37:g.67148188C>G	ENSP00000269081:p.Glu1465Gln		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1465Q	ENST00000269081.4	37	c.4393	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995826	0.35226	.	.	ENSG00000154263	ENST00000269081	D	0.88586	-2.4	3.18	1.1	0.20463	.	0.000000	0.34156	U	0.004210	D	0.93536	0.7937	M	0.89785	3.06	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.67382	0.951;0.935	D	0.91506	0.5223	10	0.72032	D	0.01	.	7.4116	0.27021	0.0:0.6956:0.0:0.3044	.	457;1465	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	Q	1465	ENSP00000269081:E1465Q	ENSP00000269081:E1465Q	E	-	1	0	ABCA10	64659783	1.000000	0.71417	0.956000	0.39512	0.320000	0.28249	1.909000	0.39917	0.174000	0.19809	0.563000	0.77884	GAA	ABCA10	-	NULL	ENSG00000154263		0.403	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	100	0.00	0	C	NM_080282		67148188	67148188	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	missense	121	40.39	82	SNP	1.000	G
ABCA10	10349	genome.wustl.edu	37	17	67190127	67190127	+	Missense_Mutation	SNP	G	G	A	rs111474594		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:67190127G>A	ENST00000269081.4	-	14	2258	c.1349C>T	c.(1348-1350)tCa>tTa	p.S450L	ABCA10_ENST00000416101.2_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	450	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AATAGTGGCTGATCCTATAAA	0.279																																						dbGAP											0													45.0	53.0	50.0					17																	67190127		2200	4297	6497	-	-	-	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1349C>T	17.37:g.67190127G>A	ENSP00000269081:p.Ser450Leu		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S450L	ENST00000269081.4	37	c.1349	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201488	0.38905	.	.	ENSG00000154263	ENST00000269081	D	0.94092	-3.35	3.71	0.362	0.16113	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.27956	U	0.017170	D	0.87912	0.6297	L	0.53249	1.67	0.19575	N	0.999965	P;B	0.34522	0.455;0.231	B;B	0.37451	0.179;0.25	T	0.75365	-0.3343	10	0.10902	T	0.67	.	5.3287	0.15920	0.2687:0.154:0.5773:0.0	.	450;450	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	L	450	ENSP00000269081:S450L	ENSP00000269081:S450L	S	-	2	0	ABCA10	64701722	0.000000	0.05858	0.008000	0.14137	0.848000	0.48234	0.020000	0.13466	-0.069000	0.12931	0.557000	0.71058	TCA	ABCA10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154263		0.279	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	62	0.00	0	G	NM_080282		67190127	67190127	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	missense	51	35.44	28	SNP	0.088	A
ABCA12	26154	genome.wustl.edu	37	2	215846980	215846980	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:215846980C>T	ENST00000272895.7	-	30	4729	c.4510G>A	c.(4510-4512)Gaa>Aaa	p.E1504K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E1186K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1504	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTAGATGGTTCATCCAAAATT	0.428																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													184.0	167.0	173.0					2																	215846980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4510G>A	2.37:g.215846980C>T	ENSP00000272895:p.Glu1504Lys		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1504K	ENST00000272895.7	37	c.4510	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.682245	0.96774	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.98849	-5.18;-5.18	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.151921	0.46442	D	0.000283	D	0.99459	0.9808	H	0.99600	4.65	0.80722	D	1	P;P	0.48503	0.857;0.911	B;P	0.52481	0.444;0.7	D	0.98296	1.0516	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1504;1186	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	K	1504;1186	ENSP00000272895:E1504K;ENSP00000374312:E1186K	ENSP00000272895:E1504K	E	-	1	0	ABCA12	215555225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GAA	ABCA12	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000144452		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	58	0.00	0	C	NM_173076		215846980	215846980	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	missense	23	61.67	37	SNP	1.000	T
ABCA13	154664	genome.wustl.edu	37	7	48316003	48316003	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:48316003C>G	ENST00000435803.1	+	17	6764	c.6740C>G	c.(6739-6741)tCa>tGa	p.S2247*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2247					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATATGCAGTCAGAAACTAGT	0.343																																						dbGAP											0													23.0	23.0	23.0					7																	48316003		1812	4082	5894	-	-	-	SO:0001587	stop_gained	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6740C>G	7.37:g.48316003C>G	ENSP00000411096:p.Ser2247*		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S2247*	ENST00000435803.1	37	c.6740	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	43	10.421322	0.99402	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.03	1.68	0.24146	.	0.631844	0.13267	N	0.400802	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4493	0.00499	0.2162:0.3505:0.1796:0.2537	.	.	.	.	X	2247	.	.	S	+	2	0	ABCA13	48286549	0.013000	0.17824	0.000000	0.03702	0.007000	0.05969	0.316000	0.19469	0.505000	0.28104	-0.339000	0.08088	TCA	ABCA13	-	NULL	ENSG00000179869		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	9	0.00	0	C	NM_152701		48316003	48316003	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	nonsense	17	29.17	7	SNP	0.000	G
ABCA4	24	genome.wustl.edu	37	1	94476927	94476927	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:94476927G>C	ENST00000370225.3	-	39	5561	c.5475C>G	c.(5473-5475)ttC>ttG	p.F1825L	ABCA4_ENST00000536513.1_Missense_Mutation_p.F95L|ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000535881.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1825					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCACGGCGTTGAACCTGAGCA	0.592																																						dbGAP											0													82.0	82.0	82.0					1																	94476927		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5475C>G	1.37:g.94476927G>C	ENSP00000359245:p.Phe1825Leu		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.F1825L	ENST00000370225.3	37	c.5475	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179739	0.38511	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513	D;D	0.89875	-2.58;-2.05	4.67	4.67	0.58626	.	0.220091	0.47852	N	0.000220	T	0.70474	0.3228	N	0.13327	0.33	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.69628	-0.5094	10	0.45353	T	0.12	.	12.0591	0.53552	0.0917:0.0:0.9083:0.0	.	95;1825	B4DWY6;P78363	.;ABCA4_HUMAN	L	617;1825;95	ENSP00000359245:F1825L;ENSP00000439707:F95L	ENSP00000359245:F1825L	F	-	3	2	ABCA4	94249515	1.000000	0.71417	0.988000	0.46212	0.795000	0.44927	2.597000	0.46214	2.566000	0.86566	0.585000	0.79938	TTC	ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.592	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	21	0.00	0	G	NM_000350		94476927	94476927	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	missense	23	37.84	14	SNP	1.000	C
ABCB11	8647	genome.wustl.edu	37	2	169780194	169780194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:169780194C>A	ENST00000263817.6	-	28	4028	c.3904G>T	c.(3904-3906)Gaa>Taa	p.E1302*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1302	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCCATCAGTTCTTCATGGGTC	0.512																																						dbGAP											0			GRCh37	CM081484	ABCB11	M							152.0	151.0	152.0					2																	169780194		2020	4207	6227	-	-	-	SO:0001587	stop_gained	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3904G>T	2.37:g.169780194C>A	ENSP00000263817:p.Glu1302*		Q53TL2|Q9UNB2	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E1302*	ENST00000263817.6	37	c.3904	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	42	9.808337	0.99270	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.86	4.99	0.66335	.	0.261212	0.44902	D	0.000410	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.7181	0.69286	0.0:0.9309:0.0:0.0691	.	.	.	.	X	1302	.	ENSP00000263817:E1302X	E	-	1	0	ABCB11	169488440	0.498000	0.26075	0.974000	0.42286	0.972000	0.66771	1.133000	0.31430	1.490000	0.48466	0.650000	0.86243	GAA	ABCB11	-	pfscan_ABC_transporter-like	ENSG00000073734		0.512	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	110	0.00	0	C	NM_003742		169780194	169780194	-1	no_errors	ENST00000263817	ensembl	human	known	69_37n	nonsense	86	40.28	58	SNP	0.997	A
ABCB4	5244	genome.wustl.edu	37	7	87049354	87049354	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:87049354C>T	ENST00000265723.4	-	19	2465	c.2354G>A	c.(2353-2355)aGa>aAa	p.R785K	ABCB4_ENST00000358400.3_Missense_Mutation_p.R785K|ABCB4_ENST00000359206.3_Missense_Mutation_p.R785K|ABCB4_ENST00000545634.1_Missense_Mutation_p.R785K|ABCB4_ENST00000453593.1_Missense_Mutation_p.R785K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	785	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CCGCAGTCTTCTGGTGAGGAT	0.433																																						dbGAP											0													164.0	153.0	157.0					7																	87049354		2203	4300	6503	-	-	-	SO:0001583	missense	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2354G>A	7.37:g.87049354C>T	ENSP00000265723:p.Arg785Lys		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R785K	ENST00000265723.4	37	c.2354	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	C	1.808	-0.475430	0.04414	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	6.03	3.12	0.35913	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.276012	0.39544	N	0.001322	T	0.66107	0.2756	N	0.02916	-0.46	0.22851	N	0.998652	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.56715	-0.7933	10	0.02654	T	1	-11.4539	4.4486	0.11609	0.2487:0.3472:0.4041:0.0	.	785;785;785	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	K	785	ENSP00000352135:R785K;ENSP00000351172:R785K;ENSP00000265723:R785K;ENSP00000392983:R785K;ENSP00000437465:R785K	ENSP00000265723:R785K	R	-	2	0	ABCB4	86887290	0.986000	0.35501	0.732000	0.30844	0.365000	0.29674	2.115000	0.41921	0.889000	0.36185	-0.147000	0.13772	AGA	ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000005471		0.433	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	52	0.00	0	C	NM_000443		87049354	87049354	-1	no_errors	ENST00000265723	ensembl	human	known	69_37n	missense	39	43.48	30	SNP	0.809	T
ABCB5	340273	genome.wustl.edu	37	7	20685387	20685387	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:20685387C>T	ENST00000404938.2	+	8	1339	c.687C>T	c.(685-687)atC>atT	p.I229I	ABCB5_ENST00000406935.1_5'Flank|ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000258738.6_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	229	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATGGTCATCTCATTGACCA	0.403																																						dbGAP											0													124.0	113.0	116.0					7																	20685387		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.687C>T	7.37:g.20685387C>T			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.I229	ENST00000404938.2	37	c.687	CCDS55090.1	7																																																																																			ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000004846		0.403	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	41	0.00	0	C	NM_178559		20685387	20685387	+1	no_errors	ENST00000404938	ensembl	human	putative	69_37n	silent	42	32.26	20	SNP	1.000	T
ABCB4	5244	genome.wustl.edu	37	7	87069538	87069538	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:87069538C>G	ENST00000265723.4	-	13	1648	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	ABCB4_ENST00000358400.3_Missense_Mutation_p.E513Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.E513Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.E513Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.E513Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	513	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATGATAAACTCATAGGCGTTG	0.378																																						dbGAP											0													86.0	84.0	85.0					7																	87069538		2203	4300	6503	-	-	-	SO:0001583	missense	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1537G>C	7.37:g.87069538C>G	ENSP00000265723:p.Glu513Gln		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E513Q	ENST00000265723.4	37	c.1537	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082645	0.55861	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79	5.73	4.83	0.62350	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.589450	0.18376	N	0.143106	D	0.91456	0.7303	M	0.65975	2.015	0.24406	N	0.994683	B;B;B	0.26845	0.161;0.061;0.075	B;B;B	0.36186	0.179;0.088;0.219	D	0.85792	0.1368	10	0.87932	D	0	-1.2762	16.5855	0.84727	0.0:0.8695:0.1304:0.0	.	513;513;513	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	Q	513	ENSP00000352135:E513Q;ENSP00000351172:E513Q;ENSP00000265723:E513Q;ENSP00000392983:E513Q;ENSP00000437465:E513Q	ENSP00000265723:E513Q	E	-	1	0	ABCB4	86907474	1.000000	0.71417	0.965000	0.40720	0.866000	0.49608	1.313000	0.33585	1.362000	0.46000	0.650000	0.86243	GAG	ABCB4	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000005471		0.378	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	78	0.00	0	C	NM_000443		87069538	87069538	-1	no_errors	ENST00000265723	ensembl	human	known	69_37n	missense	71	38.26	44	SNP	1.000	G
ABCC1	4363	genome.wustl.edu	37	16	16101738	16101738	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:16101738C>G	ENST00000399410.3	+	2	289	c.114C>G	c.(112-114)ctC>ctG	p.L38L	ABCC1_ENST00000399408.2_Silent_p.L38L|ABCC1_ENST00000351154.5_Silent_p.L38L|ABCC1_ENST00000349029.5_Silent_p.L38L|ABCC1_ENST00000346370.5_Silent_p.L38L|ABCC1_ENST00000345148.5_Silent_p.L38L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	38					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ACACGGTCCTCGTGTGGGTGC	0.532																																						dbGAP											0													199.0	191.0	194.0					16																	16101738		1957	4152	6109	-	-	-	SO:0001819	synonymous_variant	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.114C>G	16.37:g.16101738C>G			A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.L38	ENST00000399410.3	37	c.114	CCDS42122.1	16																																																																																			ABCC1	-	tigrfam_Multidrug-R_assoc	ENSG00000103222		0.532	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	291	0.00	0	C	NM_004996		16101738	16101738	+1	no_errors	ENST00000399408	ensembl	human	known	69_37n	silent	191	42.47	141	SNP	1.000	G
ABCC8	6833	genome.wustl.edu	37	11	17482056	17482056	+	Missense_Mutation	SNP	C	C	G	rs45522932		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:17482056C>G	ENST00000389817.3	-	6	1058	c.990G>C	c.(988-990)gaG>gaC	p.E330D	ABCC8_ENST00000302539.4_Missense_Mutation_p.E330D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	330	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGACGTCGTTCTCCTTCCCAA	0.592																																						dbGAP											0													118.0	111.0	113.0					11																	17482056		2200	4293	6493	-	-	-	SO:0001583	missense	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.990G>C	11.37:g.17482056C>G	ENSP00000374467:p.Glu330Asp		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E330D	ENST00000389817.3	37	c.990	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592340	0.28357	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.89552	-2.53;-2.53	5.77	1.17	0.20885	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.264521	0.37178	N	0.002206	T	0.71651	0.3365	N	0.05414	-0.055	0.37131	D	0.901259	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.004	T	0.56541	-0.7962	10	0.13470	T	0.59	.	6.3128	0.21174	0.0:0.5282:0.1397:0.3321	.	329;330	B7Z4N0;Q09428	.;ABCC8_HUMAN	D	330;330;344	ENSP00000374467:E330D;ENSP00000303960:E330D	ENSP00000303960:E330D	E	-	3	2	ABCC8	17438632	0.990000	0.36364	0.857000	0.33713	0.862000	0.49288	0.160000	0.16462	0.075000	0.16796	-1.134000	0.01955	GAG	ABCC8	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000006071		0.592	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	37	0.00	0	C	NM_000352		17482056	17482056	-1	no_errors	ENST00000302539	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	0.977	G
ABCC9	10060	genome.wustl.edu	37	12	22063124	22063124	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:22063124G>C	ENST00000261201.4	-	8	1286	c.1287C>G	c.(1285-1287)ttC>ttG	p.F429L	ABCC9_ENST00000345162.2_Missense_Mutation_p.F429L|ABCC9_ENST00000261200.4_Missense_Mutation_p.F429L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	429	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TAGGACACAGGAACAAAAACC	0.388																																						dbGAP											0													107.0	107.0	107.0					12																	22063124		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1287C>G	12.37:g.22063124G>C	ENSP00000261201:p.Phe429Leu		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.F429L	ENST00000261201.4	37	c.1287	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158599	0.78226	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.8	5.8	0.92144	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	L	0.42529	1.33	0.80722	D	1	B;B	0.16166	0.016;0.003	B;B	0.25405	0.06;0.005	T	0.78858	-0.2038	10	0.02654	T	1	-21.9529	20.0637	0.97700	0.0:0.0:1.0:0.0	.	429;429	O60706;O60706-2	ABCC9_HUMAN;.	L	429;92;429;429	ENSP00000261200:F429L;ENSP00000440521:F92L;ENSP00000261201:F429L;ENSP00000261202:F429L	ENSP00000261200:F429L	F	-	3	2	ABCC9	21954391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.714000	0.74692	2.751000	0.94390	0.650000	0.86243	TTC	ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000069431		0.388	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	39	0.00	0	G	NM_005691		22063124	22063124	-1	no_errors	ENST00000261200	ensembl	human	known	69_37n	missense	49	43.68	38	SNP	1.000	C
ABHD8	79575	genome.wustl.edu	37	19	17403583	17403583	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:17403583C>T	ENST00000247706.3	-	5	1446	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	MRPL34_ENST00000595444.1_Missense_Mutation_p.S45F|MRPL34_ENST00000600434.1_5'UTR	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	403							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCAGGGCATTCCAGCATCACC	0.637																																					Ovarian(156;1368 2543 15275 41187)	dbGAP											0													64.0	51.0	55.0					19																	17403583		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1207G>A	19.37:g.17403583C>T	ENSP00000247706:p.Glu403Lys		Q9HAE9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.E403K	ENST00000247706.3	37	c.1207	CCDS12355.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.052081	0.97236	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.58797	0.31	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	M	0.72576	2.205	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.77968	-0.2388	10	0.72032	D	0.01	-30.1034	15.587	0.76491	0.0:1.0:0.0:0.0	.	403	Q96I13	ABHD8_HUMAN	K	403;349	ENSP00000247706:E403K	ENSP00000247706:E403K	E	-	1	0	ABHD8	17264583	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.321000	0.79088	2.284000	0.76573	0.491000	0.48974	GAA	ABHD8	-	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like	ENSG00000127220		0.637	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	17	0.00	0	C	NM_024527		17403583	17403583	-1	no_errors	ENST00000247706	ensembl	human	known	69_37n	missense	10	52.38	11	SNP	1.000	T
ABTB2	25841	genome.wustl.edu	37	11	34186251	34186251	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:34186251G>C	ENST00000435224.2	-	9	2394	c.1970C>G	c.(1969-1971)tCa>tGa	p.S657*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.S471*	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	657					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GTGGGCAGCTGAGTGGCTGAA	0.632																																						dbGAP											0													68.0	55.0	59.0					11																	34186251		2202	4297	6499	-	-	-	SO:0001587	stop_gained	0			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1970C>G	11.37:g.34186251G>C	ENSP00000410157:p.Ser657*		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.S657*	ENST00000435224.2	37	c.1970	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	G	44	10.605167	0.99436	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.57	5.57	0.84162	.	0.062114	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.8983	19.5344	0.95244	0.0:0.0:1.0:0.0	.	.	.	.	X	657;471	.	ENSP00000298992:S471X	S	-	2	0	ABTB2	34142827	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.858000	0.99539	2.618000	0.88619	0.561000	0.74099	TCA	ABTB2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000166016		0.632	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	88	0.00	0	G	NM_145804		34186251	34186251	-1	no_errors	ENST00000435224	ensembl	human	known	69_37n	nonsense	19	41.18	14	SNP	1.000	C
ACCS	84680	genome.wustl.edu	37	11	44102734	44102734	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:44102734C>T	ENST00000263776.8	+	12	1409	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	325					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TGCAGGACTTCGGGATGTCTG	0.632																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	dbGAP											0													95.0	91.0	92.0					11																	44102734		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.975C>T	11.37:g.44102734C>T			B4E219|Q8WUL4|Q96LX5	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	p.F325	ENST00000263776.8	37	c.975	CCDS7907.1	11																																																																																			ACCS	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	ENSG00000110455		0.632	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCS	HGNC	protein_coding	OTTHUMT00000389721.1	50	0.00	0	C	NM_032592		44102734	44102734	+1	no_errors	ENST00000263776	ensembl	human	known	69_37n	silent	14	50.00	14	SNP	1.000	T
ADAM21	8747	genome.wustl.edu	37	14	70925639	70925639	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:70925639G>C	ENST00000603540.1	+	2	1681	c.1423G>C	c.(1423-1425)Gaa>Caa	p.E475Q	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.E475Q	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	475	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGACCTTCCAGAATGGTGCAA	0.488																																						dbGAP											0													73.0	68.0	69.0					14																	70925639		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1423G>C	14.37:g.70925639G>C	ENSP00000474385:p.Glu475Gln		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E475Q	ENST00000603540.1	37	c.1423	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511281	0.64522	.	.	ENSG00000139985	ENST00000267499	T	0.15372	2.43	4.48	4.48	0.54585	Blood coagulation inhibitor, Disintegrin (6);	0.000000	0.44285	D	0.000468	T	0.56848	0.2013	H	0.95950	3.745	0.39087	D	0.961013	D	0.89917	1.0	D	0.97110	1.0	T	0.74951	-0.3489	10	0.87932	D	0	.	17.7068	0.88311	0.0:0.0:1.0:0.0	.	475	Q9UKJ8	ADA21_HUMAN	Q	475	ENSP00000267499:E475Q	ENSP00000267499:E475Q	E	+	1	0	ADAM21	69995392	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.173000	0.77612	2.480000	0.83734	0.557000	0.71058	GAA	ADAM21	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin	ENSG00000139985		0.488	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	66	0.00	0	G			70925639	70925639	+1	no_errors	ENST00000267499	ensembl	human	known	69_37n	missense	35	31.37	16	SNP	1.000	C
ADAM28	10863	genome.wustl.edu	37	8	24187573	24187573	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:24187573G>A	ENST00000265769.4	+	11	1158	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Missense_Mutation_p.D97N|ADAM28_ENST00000540823.1_Missense_Mutation_p.D117N|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.D350N|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	350	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AATGTTTCATGACGACTATTC	0.453																																					NSCLC(193;488 2149 22258 34798 40734)	dbGAP											0													161.0	144.0	150.0					8																	24187573		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1048G>A	8.37:g.24187573G>A	ENSP00000265769:p.Asp350Asn		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D350N	ENST00000265769.4	37	c.1048	CCDS34865.1	8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320703	0.81469	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.95	5.08	0.68730	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.63943	0.2554	M	0.92077	3.27	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.91635	0.988;0.999;0.999;0.962	T	0.73366	-0.4005	9	0.87932	D	0	.	13.0173	0.58764	0.0775:0.0:0.9225:0.0	.	117;350;350;350	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2	.;.;ADA28_HUMAN;.	N	350;97;117;350	ENSP00000265769:D350N;ENSP00000380770:D97N;ENSP00000443743:D117N;ENSP00000393699:D350N	ENSP00000265769:D350N	D	+	1	0	ADAM28	24243518	1.000000	0.71417	0.996000	0.52242	0.642000	0.38348	6.329000	0.72920	1.536000	0.49237	0.655000	0.94253	GAC	ADAM28	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000042980		0.453	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	107	0.00	0	G	NM_021778		24187573	24187573	+1	no_errors	ENST00000265769	ensembl	human	known	69_37n	missense	35	50.00	35	SNP	1.000	A
ADAM28	10863	genome.wustl.edu	37	8	24201083	24201083	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:24201083C>G	ENST00000265769.4	+	18	2086	c.1976C>G	c.(1975-1977)tCc>tGc	p.S659C	ADAM28_ENST00000397649.3_Missense_Mutation_p.S406C|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	659					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCGATGACTCCTCAGTGGTC	0.468																																					NSCLC(193;488 2149 22258 34798 40734)	dbGAP											0													160.0	124.0	136.0					8																	24201083		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1976C>G	8.37:g.24201083C>G	ENSP00000265769:p.Ser659Cys		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S659C	ENST00000265769.4	37	c.1976	CCDS34865.1	8	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927619	0.52759	.	.	ENSG00000042980	ENST00000265769;ENST00000397649	D;D	0.89552	-2.53;-2.53	5.5	5.5	0.81552	.	.	.	.	.	D	0.90779	0.7105	L	0.59436	1.845	0.09310	N	0.999997	D;D	0.69078	0.997;0.997	P;P	0.55667	0.781;0.781	D	0.84515	0.0624	9	0.72032	D	0.01	.	10.655	0.45669	0.0:0.913:0.0:0.087	.	659;659	B2RMV5;Q9UKQ2	.;ADA28_HUMAN	C	659;406	ENSP00000265769:S659C;ENSP00000380770:S406C	ENSP00000265769:S659C	S	+	2	0	ADAM28	24257028	0.014000	0.17966	0.096000	0.21009	0.031000	0.12232	2.309000	0.43699	2.758000	0.94735	0.561000	0.74099	TCC	ADAM28	-	NULL	ENSG00000042980		0.468	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	81	0.00	0	C	NM_021778		24201083	24201083	+1	no_errors	ENST00000265769	ensembl	human	known	69_37n	missense	31	39.22	20	SNP	0.122	G
ADAMTS14	140766	genome.wustl.edu	37	10	72511354	72511354	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:72511354G>C	ENST00000373207.1	+	17	2548	c.2548G>C	c.(2548-2550)Gag>Cag	p.E850Q	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.E853Q	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	850	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E853*(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGACACCTATGAGTGGGCGCT	0.627																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											60.0	62.0	61.0					10																	72511354		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2548G>C	10.37:g.72511354G>C	ENSP00000362303:p.Glu850Gln		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E853Q	ENST00000373207.1	37	c.2557	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724013	0.89298	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.60299	0.2;0.2	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	L	0.47716	1.5	0.48830	D	0.999718	D;D	0.63046	0.992;0.992	P;P	0.58520	0.84;0.84	T	0.61148	-0.7121	10	0.25106	T	0.35	.	16.753	0.85492	0.0:0.0:1.0:0.0	.	850;853	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	Q	853;850	ENSP00000362304:E853Q;ENSP00000362303:E850Q	ENSP00000362303:E850Q	E	+	1	0	ADAMTS14	72181360	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	9.150000	0.94667	2.280000	0.76307	0.563000	0.77884	GAG	ADAMTS14	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000138316		0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	40	0.00	0	G	NM_080722		72511354	72511354	+1	no_errors	ENST00000373208	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	1.000	C
ADAMTS7	11173	genome.wustl.edu	37	15	79089018	79089018	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:79089018C>G	ENST00000388820.4	-	4	943	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	245	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACCAGGGTCTCCACCCACTTC	0.607																																						dbGAP											0													154.0	124.0	134.0					15																	79089018		2196	4293	6489	-	-	-	SO:0001583	missense	0			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.733G>C	15.37:g.79089018C>G	ENSP00000373472:p.Glu245Gln		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E245Q	ENST00000388820.4	37	c.733	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891870	0.91889	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	D	0.90324	-2.65	5.49	5.49	0.81192	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	M	0.91249	3.19	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.993	D	0.97022	0.9744	10	0.87932	D	0	.	16.8508	0.85993	0.0:1.0:0.0:0.0	.	245;245;245	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	Q	245	ENSP00000373472:E245Q	ENSP00000373472:E245Q	E	-	1	0	ADAMTS7	76876073	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.631000	0.83237	2.582000	0.87167	0.462000	0.41574	GAG	ADAMTS7	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000136378		0.607	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	26	0.00	0	C	NM_014272		79089018	79089018	-1	no_errors	ENST00000388820	ensembl	human	known	69_37n	missense	25	35.90	14	SNP	1.000	G
ADAMTS9	56999	genome.wustl.edu	37	3	64589998	64589998	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:64589998A>T	ENST00000498707.1	-	24	3826	c.3484T>A	c.(3484-3486)Tta>Ata	p.L1162I	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.L1134I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1162	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATGATGGTAATTCACAGTCC	0.468																																						dbGAP											0													82.0	83.0	83.0					3																	64589998		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3484T>A	3.37:g.64589998A>T	ENSP00000418735:p.Leu1162Ile		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.L1162I	ENST00000498707.1	37	c.3484	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.92|11.92	1.783301|1.783301	0.31593|0.31593	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.53423|.	0.62;0.62|.	4.68|4.68	2.16|2.16	0.27623|0.27623	.|.	0.101809|.	0.37095|.	N|.	0.002245|.	T|T	0.41766|0.41766	0.1173|0.1173	L|L	0.41124|0.41124	1.26|1.26	0.80722|0.80722	D|D	1|1	B;B;B|.	0.24092|.	0.045;0.027;0.097|.	B;B;B|.	0.33254|.	0.049;0.018;0.16|.	T|T	0.20739|0.20739	-1.0266|-1.0266	10|5	0.32370|.	T|.	0.25|.	.|.	1.7669|1.7669	0.03004|0.03004	0.4776:0.2544:0.0849:0.1831|0.4776:0.2544:0.0849:0.1831	.|.	1134;1162;1162|.	B7ZVX9;Q9P2N4-1;Q9P2N4|.	.;.;ATS9_HUMAN|.	I|K	1134;1162|217	ENSP00000295903:L1134I;ENSP00000418735:L1162I|.	ENSP00000295903:L1134I|.	L|N	-|-	1|3	2|2	ADAMTS9|ADAMTS9	64565038|64565038	0.824000|0.824000	0.29247|0.29247	0.994000|0.994000	0.49952|0.49952	0.954000|0.954000	0.61252|0.61252	0.024000|0.024000	0.13555|0.13555	0.350000|0.350000	0.24002|0.24002	-0.321000|-0.321000	0.08615|0.08615	TTA|AAT	ADAMTS9	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.468	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	37	0.00	0	A			64589998	64589998	-1	no_errors	ENST00000498707	ensembl	human	known	69_37n	missense	27	57.81	37	SNP	0.988	T
ADH6	130	genome.wustl.edu	37	4	100126152	100126152	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:100126152G>C	ENST00000237653.7	-	8	1417	c.1033C>G	c.(1033-1035)Cca>Gca	p.P345A	RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.P136A|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|ADH6_ENST00000394899.2_Missense_Mutation_p.P345A|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	345					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	GTAATTAGTGGATCTAGATTC	0.348																																						dbGAP											0													147.0	140.0	142.0					4																	100126152		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.1033C>G	4.37:g.100126152G>C	ENSP00000237653:p.Pro345Ala		B3KS45|Q58F53	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.P345A	ENST00000237653.7	37	c.1033	CCDS3647.1	4	.	.	.	.	.	.	.	.	.	.	G	1.857	-0.463523	0.04476	.	.	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653	T;T;T	0.06371	3.31;3.31;3.31	3.79	-0.432	0.12291	.	0.475484	0.21862	N	0.068020	T	0.04724	0.0128	L	0.37507	1.11	0.09310	N	1	B;B;B	0.21071	0.001;0.001;0.051	B;B;B	0.15052	0.001;0.001;0.012	T	0.33189	-0.9878	10	0.42905	T	0.14	-8.5068	6.4234	0.21756	0.2342:0.3805:0.3853:0.0	.	222;345;345	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	A	345;136;345	ENSP00000378359:P345A;ENSP00000384997:P136A;ENSP00000237653:P345A	ENSP00000237653:P345A	P	-	1	0	ADH6	100345175	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.104000	0.10923	-0.116000	0.11893	0.544000	0.68410	CCA	ADH6	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000172955		0.348	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	HGNC	protein_coding	OTTHUMT00000253665.1	111	0.00	0	G	NM_000672		100126152	100126152	-1	no_errors	ENST00000394899	ensembl	human	known	69_37n	missense	146	26.26	52	SNP	0.007	C
ADI1	55256	genome.wustl.edu	37	2	3502845	3502845	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:3502845C>T	ENST00000327435.6	-	4	677	c.429G>A	c.(427-429)acG>acA	p.T143T	RP11-1293J14.1_ENST00000607415.1_lincRNA|ADI1_ENST00000382093.5_Silent_p.T137T	NM_018269.3	NP_060739.2			acireductone dioxygenase 1									p.T143T(1)		breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		GCATGGCCTTCGTGTAGTTCT	0.478																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											44.0	44.0	44.0					2																	3502845		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"""membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"""	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.429G>A	2.37:g.3502845C>T				Missense_Mutation	SNP	superfamily_RmlC_Cupin	p.E81K	ENST00000327435.6	37	c.241	CCDS1653.1	2	.	.	.	.	.	.	.	.	.	.	C	4.641	0.119082	0.08881	.	.	ENSG00000182551	ENST00000415131	.	.	.	4.59	-2.07	0.07276	.	.	.	.	.	T	0.40171	0.1106	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28681	-1.0036	4	.	.	.	-25.4666	2.4898	0.04607	0.1162:0.441:0.2277:0.2151	.	.	.	.	K	81	.	.	E	-	1	0	ADI1	3481852	0.593000	0.26840	0.883000	0.34634	0.194000	0.23727	-0.318000	0.08050	-0.200000	0.10300	-0.136000	0.14681	GAA	ADI1	-	superfamily_RmlC_Cupin	ENSG00000182551		0.478	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADI1	HGNC	protein_coding	OTTHUMT00000231914.6	20	0.00	0	C	NM_018269		3502845	3502845	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000415131	ensembl	human	putative	69_37n	missense	15	21.05	4	SNP	0.991	T
AFF3	3899	genome.wustl.edu	37	2	100170782	100170782	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:100170782C>T	ENST00000409236.2	-	22	3662	c.3550G>A	c.(3550-3552)Gaa>Aaa	p.E1184K	AFF3_ENST00000317233.4_Missense_Mutation_p.E1184K|AFF3_ENST00000356421.2_Missense_Mutation_p.E1209K|AFF3_ENST00000409579.1_Missense_Mutation_p.E1209K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1184					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCTCGGTTTTCCTTGGCCAGG	0.622																																						dbGAP											0													113.0	98.0	103.0					2																	100170782		2203	4300	6503	-	-	-	SO:0001583	missense	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3550G>A	2.37:g.100170782C>T	ENSP00000387207:p.Glu1184Lys		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E1209K	ENST00000409236.2	37	c.3625	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.810265	0.96975	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.49	5.49	0.81192	.	0.060848	0.64402	D	0.000005	T	0.71986	0.3405	L	0.41710	1.295	0.80722	D	1	B;D	0.69078	0.043;0.997	P;D	0.68353	0.53;0.957	T	0.67554	-0.5641	10	0.29301	T	0.29	.	19.3609	0.94438	0.0:1.0:0.0:0.0	.	1184;1209	P51826;P51826-2	AFF3_HUMAN;.	K	1184;1209;1209;1184	ENSP00000317421:E1184K;ENSP00000348793:E1209K;ENSP00000386834:E1209K;ENSP00000387207:E1184K	ENSP00000317421:E1184K	E	-	1	0	AFF3	99537214	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.786000	0.85741	2.569000	0.86673	0.655000	0.94253	GAA	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.622	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	131	0.00	0	C	NM_002285		100170782	100170782	-1	no_errors	ENST00000356421	ensembl	human	known	69_37n	missense	45	32.84	22	SNP	1.000	T
AGBL1	123624	genome.wustl.edu	37	15	86807754	86807754	+	Missense_Mutation	SNP	C	C	G	rs79186009	byFrequency	TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:86807754C>G	ENST00000441037.2	+	10	1309	c.1214C>G	c.(1213-1215)tCt>tGt	p.S405C	AGBL1_ENST00000421325.2_Missense_Mutation_p.S405C|AGBL1_ENST00000389298.3_Missense_Mutation_p.S136C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	405					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGGAGAGATTCTTCTGAAAGT	0.468																																						dbGAP											0													70.0	73.0	72.0					15																	86807754		1906	4131	6037	-	-	-	SO:0001583	missense	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1214C>G	15.37:g.86807754C>G	ENSP00000413001:p.Ser405Cys		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.S405C	ENST00000441037.2	37	c.1214	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220396	0.79464	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10960	2.83;2.82	5.71	5.71	0.89125	Armadillo-type fold (1);	0.300493	0.29417	N	0.012209	T	0.17023	0.0409	L	0.29908	0.895	0.09310	N	1	D;B;D	0.63880	0.992;0.01;0.993	P;B;P	0.53185	0.719;0.01;0.72	T	0.03025	-1.1081	10	0.52906	T	0.07	-7.2386	17.3792	0.87400	0.0:1.0:0.0:0.0	.	104;136;405	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	C	434;405;136	ENSP00000397173:S405C;ENSP00000373949:S136C	ENSP00000373949:S136C	S	+	2	0	AGBL1	84608758	0.040000	0.19996	0.022000	0.16811	0.470000	0.32858	2.556000	0.45862	2.861000	0.98227	0.650000	0.86243	TCT	AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.468	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	35	0.00	0	C	NM_152336		86807754	86807754	+1	no_errors	ENST00000441037	ensembl	human	known	69_37n	missense	30	37.50	18	SNP	0.041	G
AGT	183	genome.wustl.edu	37	1	230841751	230841751	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:230841751G>C	ENST00000366667.4	-	3	1266	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	351					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTCCAGGTCAGAGGCATAGTG	0.562																																						dbGAP											0													114.0	113.0	114.0					1																	230841751		2203	4300	6503	-	-	-	SO:0001583	missense	0			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1052C>G	1.37:g.230841751G>C	ENSP00000355627:p.Ser351Cys		Q16358|Q16359|Q96F91	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Angiotensngn	p.S351C	ENST00000366667.4	37	c.1052	CCDS1585.1	1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017341	0.54576	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.85088	-1.94	5.08	1.83	0.25207	Serpin domain (3);	1.327670	0.04831	N	0.438755	D	0.85022	0.5602	L	0.51422	1.61	0.09310	N	1	D;D;D	0.60575	0.967;0.988;0.967	P;P;P	0.52793	0.631;0.709;0.631	T	0.71663	-0.4525	10	0.59425	D	0.04	.	2.4422	0.04497	0.0929:0.2446:0.3586:0.304	.	351;351;351	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	C	351;269	ENSP00000355627:S351C	ENSP00000355627:S351C	S	-	2	0	AGT	228908374	0.004000	0.15560	0.001000	0.08648	0.339000	0.28857	0.080000	0.14802	1.114000	0.41781	0.591000	0.81541	TCT	AGT	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000135744		0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGT	HGNC	protein_coding	OTTHUMT00000092102.1	68	0.00	0	G	NM_000029		230841751	230841751	-1	no_errors	ENST00000366667	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	0.000	C
AHI1	54806	genome.wustl.edu	37	6	135787398	135787398	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:135787398C>G	ENST00000367800.4	-	5	519	c.303G>C	c.(301-303)ttG>ttC	p.L101F	AHI1_ENST00000457866.2_Missense_Mutation_p.L101F|AHI1_ENST00000327035.6_Missense_Mutation_p.L101F	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	101					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTGTGTTCCTCAATTTGTTTT	0.398																																						dbGAP											0													250.0	228.0	235.0					6																	135787398		1894	4123	6017	-	-	-	SO:0001583	missense	0			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.303G>C	6.37:g.135787398C>G	ENSP00000356774:p.Leu101Phe		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.L101F	ENST00000367800.4	37	c.303	CCDS47483.1	6	.	.	.	.	.	.	.	.	.	.	C	4.472	0.087415	0.08583	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.51574	0.96;0.96;0.96;0.96;0.7	5.36	0.642	0.17765	.	0.730259	0.11444	N	0.563408	T	0.20901	0.0503	L	0.47716	1.5	0.09310	N	0.999999	B;B	0.33857	0.429;0.303	B;B	0.40228	0.323;0.172	T	0.35425	-0.9789	10	0.56958	D	0.05	0.9082	2.3253	0.04222	0.1225:0.2773:0.3726:0.2275	.	101;101	Q8N157-2;Q8N157	.;AHI1_HUMAN	F	101;101;101;101;101;83	ENSP00000356774:L101F;ENSP00000388650:L101F;ENSP00000265602:L101F;ENSP00000322478:L101F;ENSP00000433063:L83F	ENSP00000265602:L101F	L	-	3	2	AHI1	135829091	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.234000	0.09028	-0.046000	0.13446	0.585000	0.79938	TTG	AHI1	-	NULL	ENSG00000135541		0.398	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	246	0.00	0	C	NM_017651		135787398	135787398	-1	no_errors	ENST00000265602	ensembl	human	known	69_37n	missense	194	30.71	86	SNP	0.000	G
AHNAK2	113146	genome.wustl.edu	37	14	105419013	105419013	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:105419013C>G	ENST00000333244.5	-	7	2894	c.2775G>C	c.(2773-2775)aaG>aaC	p.K925N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	925						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGGGCATCTTGAAACTGG	0.622																																						dbGAP											0													156.0	177.0	171.0					14																	105419013		1848	4084	5932	-	-	-	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2775G>C	14.37:g.105419013C>G	ENSP00000353114:p.Lys925Asn		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K925N	ENST00000333244.5	37	c.2775	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	9.542	1.113684	0.20795	.	.	ENSG00000185567	ENST00000333244	T	0.01705	4.68	3.89	-1.1	0.09872	.	.	.	.	.	T	0.07188	0.0182	M	0.79805	2.47	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.27088	-1.0084	9	0.29301	T	0.29	-6.1708	5.451	0.16565	0.0:0.4104:0.2707:0.3189	.	925	Q8IVF2	AHNK2_HUMAN	N	925	ENSP00000353114:K925N	ENSP00000353114:K925N	K	-	3	2	AHNAK2	104490058	0.000000	0.05858	0.030000	0.17652	0.042000	0.13812	-0.012000	0.12699	0.139000	0.18822	0.491000	0.48974	AAG	AHNAK2	-	NULL	ENSG00000185567		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	47	0.00	0	C	NM_138420		105419013	105419013	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	86	42.67	64	SNP	0.044	G
AIP	9049	genome.wustl.edu	37	11	67250641	67250641	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:67250641C>T	ENST00000279146.3	+	1	130	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	4					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						TGGCGGATATCATCGCAAGAC	0.592									Familial Isolated Pituitary Adenoma																													dbGAP											0													125.0	114.0	118.0					11																	67250641		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.12C>T	11.37:g.67250641C>T			A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Silent	SNP	pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.I4	ENST00000279146.3	37	c.12	CCDS8168.1	11																																																																																			AIP	-	NULL	ENSG00000110711		0.592	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIP	HGNC	protein_coding	OTTHUMT00000395516.1	34	0.00	0	C			67250641	67250641	+1	no_errors	ENST00000279146	ensembl	human	known	69_37n	silent	28	31.71	13	SNP	0.997	T
AK7	122481	genome.wustl.edu	37	14	96924456	96924456	+	Missense_Mutation	SNP	G	G	C	rs34324665		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:96924456G>C	ENST00000267584.4	+	12	1308	c.1264G>C	c.(1264-1266)Gaa>Caa	p.E422Q		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	422	Adenylate kinase.|NMPbind. {ECO:0000250}.|Poly-Glu.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		aggggaaggagaagaagaagt	0.493																																						dbGAP											0													107.0	90.0	96.0					14																	96924456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1264G>C	14.37:g.96924456G>C	ENSP00000267584:p.Glu422Gln		Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.E422Q	ENST00000267584.4	37	c.1264	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	9.646	1.140335	0.21205	.	.	ENSG00000140057	ENST00000267584	T	0.41758	0.99	5.06	5.06	0.68205	.	0.672006	0.14622	N	0.308370	T	0.48696	0.1514	L	0.40543	1.245	0.80722	D	1	P	0.49253	0.921	P	0.52514	0.701	T	0.42531	-0.9446	10	0.49607	T	0.09	0.5804	15.3579	0.74443	0.0:0.0:1.0:0.0	.	422	Q96M32	KAD7_HUMAN	Q	422	ENSP00000267584:E422Q	ENSP00000267584:E422Q	E	+	1	0	AK7	95994209	0.999000	0.42202	0.142000	0.22268	0.045000	0.14185	4.543000	0.60684	2.361000	0.80049	0.491000	0.48974	GAA	AK7	-	NULL	ENSG00000140057		0.493	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	56	0.00	0	G			96924456	96924456	+1	no_errors	ENST00000267584	ensembl	human	known	69_37n	missense	24	33.33	12	SNP	0.948	C
AKAP13	11214	genome.wustl.edu	37	15	86262432	86262432	+	Missense_Mutation	SNP	G	G	C	rs200241302	byFrequency	TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:86262432G>C	ENST00000394518.2	+	23	6222	c.6127G>C	c.(6127-6129)Gat>Cat	p.D2043H	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.D2047H|AKAP13_ENST00000394510.2_Missense_Mutation_p.D288H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2043	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCCCTGTTTGGATGAGCTGAT	0.473																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													132.0	113.0	120.0					15																	86262432		2202	4299	6501	-	-	-	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6127G>C	15.37:g.86262432G>C	ENSP00000378026:p.Asp2043His		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.D2047H	ENST00000394518.2	37	c.6139	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667260	0.88348	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.63744	-0.06;-0.06;-0.06	4.91	4.91	0.64330	Dbl homology (DH) domain (5);	.	.	.	.	T	0.78792	0.4339	M	0.71036	2.16	0.50313	D	0.999866	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.80970	-0.1144	9	0.87932	D	0	.	17.6162	0.88068	0.0:0.0:1.0:0.0	.	2023;2043;2047	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	H	123;2047;2043;2046;2022;288	ENSP00000354718:D2047H;ENSP00000378026:D2043H;ENSP00000378018:D288H	ENSP00000354718:D2047H	D	+	1	0	AKAP13	84063436	1.000000	0.71417	0.988000	0.46212	0.964000	0.63967	9.208000	0.95075	2.693000	0.91896	0.655000	0.94253	GAT	AKAP13	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000170776		0.473	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	92	0.00	0	G	NM_007200		86262432	86262432	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	missense	89	31.54	41	SNP	1.000	C
AKAP6	9472	genome.wustl.edu	37	14	33293653	33293653	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:33293653G>T	ENST00000280979.4	+	13	6804	c.6634G>T	c.(6634-6636)Gct>Tct	p.A2212S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2212					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGATACAGTGGCTCTTTCAAG	0.463																																					Melanoma(49;821 1200 7288 13647 42351)	dbGAP											0													101.0	90.0	93.0					14																	33293653		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6634G>T	14.37:g.33293653G>T	ENSP00000280979:p.Ala2212Ser		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.A2212S	ENST00000280979.4	37	c.6634	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686758	0.29962	.	.	ENSG00000151320	ENST00000280979	T	0.04917	3.53	5.31	1.07	0.20283	.	0.821838	0.10903	N	0.621432	T	0.05181	0.0138	L	0.51422	1.61	0.09310	N	1	P	0.35433	0.501	B	0.30646	0.118	T	0.40887	-0.9539	10	0.13853	T	0.58	-0.5924	5.1031	0.14770	0.328:0.1928:0.4791:0.0	.	2212	Q13023	AKAP6_HUMAN	S	2212	ENSP00000280979:A2212S	ENSP00000280979:A2212S	A	+	1	0	AKAP6	32363404	0.000000	0.05858	0.003000	0.11579	0.098000	0.18820	0.426000	0.21363	0.233000	0.21120	0.655000	0.94253	GCT	AKAP6	-	NULL	ENSG00000151320		0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	88	0.00	0	G	NM_004274		33293653	33293653	+1	no_errors	ENST00000280979	ensembl	human	known	69_37n	missense	57	38.71	36	SNP	0.000	T
ALDH3A2	224	genome.wustl.edu	37	17	19555064	19555064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:19555064C>T	ENST00000176643.6	+	2	804	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	ALDH3A2_ENST00000581518.1_Nonsense_Mutation_p.Q120*|ALDH3A2_ENST00000339618.4_Nonsense_Mutation_p.Q120*|ALDH3A2_ENST00000395575.2_Nonsense_Mutation_p.Q120*|Y_RNA_ENST00000578640.1_RNA|ALDH3A2_ENST00000579855.1_Nonsense_Mutation_p.Q120*			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	120					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TCTCACCATTCAGCCACTGAT	0.468																																						dbGAP											0													137.0	123.0	128.0					17																	19555064		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.358C>T	17.37:g.19555064C>T	ENSP00000176643:p.Gln120*		Q6I9T3|Q93011|Q96J37	Nonsense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.Q120*	ENST00000176643.6	37	c.358	CCDS11210.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.199644	0.97371	.	.	ENSG00000072210	ENST00000446398;ENST00000176643;ENST00000395575;ENST00000339618	.	.	.	5.53	5.53	0.82687	.	0.239149	0.43747	D	0.000527	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-5.0271	18.6325	0.91364	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000176643:Q120X	Q	+	1	0	ALDH3A2	19495656	0.916000	0.31088	0.969000	0.41365	0.955000	0.61496	2.450000	0.44943	2.882000	0.98803	0.655000	0.94253	CAG	ALDH3A2	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000072210		0.468	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1	70	0.00	0	C			19555064	19555064	+1	no_errors	ENST00000339618	ensembl	human	known	69_37n	nonsense	74	37.29	44	SNP	0.994	T
ALKBH8	91801	genome.wustl.edu	37	11	107396319	107396319	+	Splice_Site	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:107396319C>G	ENST00000428149.2	-	9	1030		c.e9-1		ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000417449.2_Splice_Site|ALKBH8_ENST00000389568.3_Splice_Site	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)						cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GCACGTGATTCTAAAAACAAT	0.289																																						dbGAP											0													72.0	55.0	60.0					11																	107396319		692	1590	2282	-	-	-	SO:0001630	splice_region_variant	0			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.879-1G>C	11.37:g.107396319C>G			B1Q2M0|B4DEF6|Q8N989	Splice_Site	SNP	-	e9-1	ENST00000428149.2	37	c.888-1	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847615	0.71603	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.639	0.91389	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALKBH8	106901529	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.408000	0.73285	2.656000	0.90262	0.580000	0.79431	.	ALKBH8	-	-	ENSG00000137760		0.289	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	47	0.00	0	C	NM_138775	Intron	107396319	107396319	-1	no_errors	ENST00000417449	ensembl	human	known	69_37n	splice_site	13	53.57	15	SNP	1.000	G
ALMS1	7840	genome.wustl.edu	37	2	73784481	73784481	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:73784481G>A	ENST00000264448.6	+	14	10321	c.10210G>A	c.(10210-10212)Gat>Aat	p.D3404N	ALMS1_ENST00000409009.1_Splice_Site_p.D3362N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3404					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGATACTGCAGGTAGCTAAAC	0.383																																						dbGAP											0													79.0	77.0	77.0					2																	73784481		1839	4088	5927	-	-	-	SO:0001630	splice_region_variant	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.10210+1G>A	2.37:g.73784481G>A			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.D3404N	ENST00000264448.6	37	c.10210	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631468	0.67015	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06218	3.33;3.33	4.13	4.13	0.48395	.	1.049200	0.07535	N	0.912828	T	0.06050	0.0157	N	0.22421	0.69	0.80722	D	1	P;P;P	0.42518	0.782;0.615;0.615	B;B;B	0.37047	0.24;0.173;0.24	T	0.45308	-0.9270	10	0.48119	T	0.1	.	12.1989	0.54313	0.0:0.0:1.0:0.0	.	3404;3362;3404	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	N	3362;3404	ENSP00000386627:D3362N;ENSP00000264448:D3404N	ENSP00000264448:D3404N	D	+	1	0	ALMS1	73637989	1.000000	0.71417	0.994000	0.49952	0.429000	0.31625	3.817000	0.55668	2.589000	0.87451	0.591000	0.81541	GAT	ALMS1	-	NULL	ENSG00000116127		0.383	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	52	0.00	0	G	NM_015120	Missense_Mutation	73784481	73784481	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	25	39.02	16	SNP	0.995	A
ALOX12	239	genome.wustl.edu	37	17	6905055	6905055	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:6905055G>A	ENST00000251535.6	+	8	1139	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	362	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATCACTTGCTGAACACTCACC	0.532																																						dbGAP											0													109.0	96.0	100.0					17																	6905055		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1086G>A	17.37:g.6905055G>A			O95569|Q6ISF8|Q9UQM4	Silent	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2	p.L362	ENST00000251535.6	37	c.1086	CCDS11084.1	17																																																																																			ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_C	ENSG00000108839		0.532	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	94	0.00	0	G			6905055	6905055	+1	no_errors	ENST00000251535	ensembl	human	known	69_37n	silent	17	58.54	24	SNP	0.995	A
ALOX12	239	genome.wustl.edu	37	17	6913414	6913414	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:6913414C>G	ENST00000251535.6	+	13	1834	c.1781C>G	c.(1780-1782)tCa>tGa	p.S594*	RNASEK_ENST00000402093.1_5'Flank|RNASEK_ENST00000548577.1_5'Flank|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000574377.1_Start_Codon_SNP_p.M1I	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	594	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.S594fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATGGCCATCTCATGGCATCTG	0.582																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)											58.0	51.0	53.0					17																	6913414		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1781C>G	17.37:g.6913414C>G	ENSP00000251535:p.Ser594*		O95569|Q6ISF8|Q9UQM4	Nonsense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2	p.S594*	ENST00000251535.6	37	c.1781	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.829213	0.97869	.	.	ENSG00000108839	ENST00000251535;ENST00000406228	.	.	.	4.96	3.99	0.46301	.	0.204225	0.41194	D	0.000922	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-5.2657	9.3091	0.37893	0.0:0.9029:0.0:0.0971	.	.	.	.	X	594;64	.	ENSP00000251535:S594X	S	+	2	0	ALOX12	6854138	0.992000	0.36948	1.000000	0.80357	0.968000	0.65278	3.528000	0.53524	1.325000	0.45301	0.460000	0.39030	TCA	ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml	ENSG00000108839		0.582	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	58	0.00	0	C			6913414	6913414	+1	no_errors	ENST00000251535	ensembl	human	known	69_37n	nonsense	5	78.26	18	SNP	1.000	G
ALPK2	115701	genome.wustl.edu	37	18	56202122	56202122	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr18:56202122G>C	ENST00000361673.3	-	5	5510	c.5297C>G	c.(5296-5298)tCa>tGa	p.S1766*	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1766						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCTGTGTGTGATAATGATGT	0.418																																						dbGAP											0													195.0	182.0	186.0					18																	56202122		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5297C>G	18.37:g.56202122G>C	ENSP00000354991:p.Ser1766*		Q6ZUX0|Q8NAT5|Q96L95	Nonsense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.S1766*	ENST00000361673.3	37	c.5297	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	42	9.594666	0.99214	.	.	ENSG00000198796	ENST00000361673	.	.	.	5.4	2.4	0.29515	.	0.750787	0.12300	N	0.481206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.7737	2.2158	0.03959	0.1751:0.1508:0.5187:0.1554	.	.	.	.	X	1766	.	ENSP00000354991:S1766X	S	-	2	0	ALPK2	54353102	0.048000	0.20356	0.005000	0.12908	0.031000	0.12232	2.080000	0.41586	1.267000	0.44247	0.561000	0.74099	TCA	ALPK2	-	NULL	ENSG00000198796		0.418	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	136	0.00	0	G	NM_052947		56202122	56202122	-1	no_errors	ENST00000361673	ensembl	human	known	69_37n	nonsense	39	69.05	87	SNP	0.000	C
ALS2	57679	genome.wustl.edu	37	2	202625594	202625594	+	Intron	SNP	G	G	C	rs201931059		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:202625594G>C	ENST00000264276.6	-	4	1486				ALS2_ENST00000496244.1_5'Flank|ALS2_ENST00000467448.1_Missense_Mutation_p.Q375E	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)						behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTATAAAATTGAGCAGGTACC	0.378																																						dbGAP											0													69.0	62.0	64.0					2																	202625594		1850	4097	5947	-	-	-	SO:0001627	intron_variant	0			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1113+9C>G	2.37:g.202625594G>C			Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	p.Q375E	ENST00000264276.6	37	c.1123	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.169066	0.01660	.	.	ENSG00000003393	ENST00000467448	T	0.52754	0.65	5.64	-7.53	0.01336	.	.	.	.	.	T	0.21881	0.0527	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.15235	-1.0444	8	0.25106	T	0.35	.	2.2176	0.03964	0.2131:0.2736:0.36:0.1533	.	375	Q96Q42-2	.	E	375	ENSP00000429223:Q375E	ENSP00000429223:Q375E	Q	-	1	0	ALS2	202333839	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.264000	0.02847	-1.206000	0.02641	-0.996000	0.02517	CAA	ALS2	-	NULL	ENSG00000003393		0.378	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	56	0.00	0	G	NM_020919		202625594	202625594	-1	no_errors	ENST00000467448	ensembl	human	known	69_37n	missense	50	33.33	25	SNP	0.000	C
AMBRA1	55626	genome.wustl.edu	37	11	46564007	46564007	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:46564007C>G	ENST00000458649.2	-	7	1978	c.1560G>C	c.(1558-1560)ctG>ctC	p.L520L	AMBRA1_ENST00000533727.1_Silent_p.L430L|AMBRA1_ENST00000314845.3_Silent_p.L430L|AMBRA1_ENST00000426438.1_Silent_p.L520L|AMBRA1_ENST00000534300.1_Silent_p.L520L|AMBRA1_ENST00000528950.1_Silent_p.L520L|AMBRA1_ENST00000298834.3_Silent_p.L520L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	520					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTTCCCCACTCAGGCTCTGAT	0.567																																						dbGAP											0													59.0	59.0	59.0					11																	46564007		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1560G>C	11.37:g.46564007C>G			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L520	ENST00000458649.2	37	c.1560		11																																																																																			AMBRA1	-	NULL	ENSG00000110497		0.567	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	35	0.00	0	C	NM_017749		46564007	46564007	-1	no_errors	ENST00000458649	ensembl	human	known	69_37n	silent	18	43.75	14	SNP	0.936	G
GMPPB	29925	genome.wustl.edu	37	3	49756337	49756337	+	3'UTR	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:49756337G>C	ENST00000480687.1	-	0	4047				AMIGO3_ENST00000535833.1_Missense_Mutation_p.L188V|AMIGO3_ENST00000320431.7_Missense_Mutation_p.L188V|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000327697.6_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAGAGGTCCAGAGTAAGCAGG	0.632											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													71.0	60.0	64.0					3																	49756337		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2848C>G	3.37:g.49756337G>C		964	A8K6N5|Q9H7U3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L188V	ENST00000480687.1	37	c.562	CCDS2803.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123929	0.77436	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.12569	2.67;2.67	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000002	T	0.40222	0.1108	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.32693	-0.9897	10	0.87932	D	0	-12.5956	17.3254	0.87245	0.0:0.0:1.0:0.0	.	188	Q86WK7	AMGO3_HUMAN	V	188	ENSP00000323096:L188V;ENSP00000439268:L188V	ENSP00000323096:L188V	L	-	1	2	AMIGO3	49731341	1.000000	0.71417	0.938000	0.37757	0.972000	0.66771	5.700000	0.68318	2.427000	0.82271	0.462000	0.41574	CTG	AMIGO3	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000176020		0.632	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO3	HGNC	protein_coding	OTTHUMT00000350291.1	20	0.00	0	G	NM_013334		49756337	49756337	-1	no_errors	ENST00000320431	ensembl	human	known	69_37n	missense	16	44.83	13	SNP	0.993	C
AMOTL1	154810	genome.wustl.edu	37	11	94563282	94563282	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:94563282G>C	ENST00000433060.2	+	5	1621	c.1480G>C	c.(1480-1482)Gaa>Caa	p.E494Q	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.E444Q|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	494					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CACCAAGCGAGAATCGCTGGA	0.418																																						dbGAP											0													68.0	65.0	66.0					11																	94563282		1864	4110	5974	-	-	-	SO:0001583	missense	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1480G>C	11.37:g.94563282G>C	ENSP00000387739:p.Glu494Gln		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.E494Q	ENST00000433060.2	37	c.1480	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370565	0.82573	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	T;T	0.16196	2.36;2.36	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000002	T	0.49150	0.1540	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.50931	-0.8769	10	0.72032	D	0.01	-32.6957	19.9983	0.97395	0.0:0.0:1.0:0.0	.	444;494	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	Q	444;500;494	ENSP00000320968:E444Q;ENSP00000387739:E494Q	ENSP00000320968:E444Q	E	+	1	0	AMOTL1	94202930	1.000000	0.71417	0.995000	0.50966	0.491000	0.33493	9.632000	0.98428	2.724000	0.93272	0.561000	0.74099	GAA	AMOTL1	-	prints_Angiomotin	ENSG00000166025		0.418	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	30	0.00	0	G	NM_130847		94563282	94563282	+1	no_errors	ENST00000433060	ensembl	human	known	69_37n	missense	25	47.92	23	SNP	1.000	C
ANGPT4	51378	genome.wustl.edu	37	20	870985	870985	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:870985C>G	ENST00000381922.3	-	2	438	c.336G>C	c.(334-336)ttG>ttC	p.L112F	ANGPT4_ENST00000546022.1_Missense_Mutation_p.L112F	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	112					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTTCGACCTCAAGATCGTCT	0.642																																					Pancreas(181;481 2077 3259 31286 49856)	dbGAP											0													76.0	66.0	70.0					20																	870985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.336G>C	20.37:g.870985C>G	ENSP00000371347:p.Leu112Phe		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L112F	ENST00000381922.3	37	c.336	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	c	11.95	1.791212	0.31685	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.14893	2.47;2.47	4.5	4.5	0.54988	.	0.244555	0.23316	N	0.049508	T	0.18215	0.0437	L	0.47716	1.5	0.41553	D	0.988586	B;B	0.16396	0.017;0.007	B;B	0.12156	0.007;0.007	T	0.03641	-1.1017	10	0.62326	D	0.03	.	14.7337	0.69402	0.0:1.0:0.0:0.0	.	112;112	B4E3J9;Q9Y264	.;ANGP4_HUMAN	F	112	ENSP00000371347:L112F;ENSP00000439605:L112F	ENSP00000371347:L112F	L	-	3	2	ANGPT4	818985	1.000000	0.71417	0.994000	0.49952	0.032000	0.12392	2.046000	0.41260	2.318000	0.78349	0.457000	0.33378	TTG	ANGPT4	-	NULL	ENSG00000101280		0.642	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	174	0.00	0	C	NM_015985		870985	870985	-1	no_errors	ENST00000381922	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	1.000	G
ANK2	287	genome.wustl.edu	37	4	114158757	114158757	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:114158757G>C	ENST00000357077.4	+	7	725	c.672G>C	c.(670-672)atG>atC	p.M224I	ANK2_ENST00000506722.1_Missense_Mutation_p.M203I|ANK2_ENST00000264366.6_Missense_Mutation_p.M224I|ANK2_ENST00000394537.3_Missense_Mutation_p.M224I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	224					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCTTCAGATGATGGTGAATA	0.358																																						dbGAP											0													227.0	207.0	214.0					4																	114158757		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.672G>C	4.37:g.114158757G>C	ENSP00000349588:p.Met224Ile		Q01485|Q08AC7|Q08AC8|Q7Z3L5	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.M224I	ENST00000357077.4	37	c.672	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205846	0.79127	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.65916	-0.03;0.09;-0.15;-0.04;-0.12;-0.16;-0.18	5.65	5.65	0.86999	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000002	T	0.73606	0.3608	L	0.36672	1.1	0.80722	D	1	D;D;D;P;P	0.61080	0.964;0.989;0.979;0.956;0.862	D;D;D;D;P	0.75484	0.968;0.986;0.986;0.98;0.813	T	0.74355	-0.3692	10	0.66056	D	0.02	.	20.0845	0.97795	0.0:0.0:1.0:0.0	.	224;224;224;203;203	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	I	203;203;203;239;224;224;224;203	ENSP00000423799:M203I;ENSP00000421011:M203I;ENSP00000421067:M203I;ENSP00000424722:M239I;ENSP00000378044:M224I;ENSP00000349588:M224I;ENSP00000264366:M224I	ENSP00000264366:M224I	M	+	3	0	ANK2	114378206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.821000	0.97095	0.650000	0.86243	ATG	ANK2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.358	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	97	0.00	0	G	NM_001148		114158757	114158757	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	134	43.46	103	SNP	1.000	C
ANK2	287	genome.wustl.edu	37	4	114274431	114274431	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:114274431G>A	ENST00000357077.4	+	38	4710	c.4657G>A	c.(4657-4659)Gaa>Aaa	p.E1553K	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1520K|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1553					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAATCGTTGAAAGAGTTAA	0.463																																						dbGAP											0													56.0	59.0	58.0					4																	114274431		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4657G>A	4.37:g.114274431G>A	ENSP00000349588:p.Glu1553Lys		Q01485|Q08AC7|Q08AC8|Q7Z3L5	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.E1553K	ENST00000357077.4	37	c.4657	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997310	0.74818	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.75704	-0.66;-0.8;-0.96;-0.96	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000029	D	0.85961	0.5819	M	0.75615	2.305	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.99;0.997	D	0.83979	0.0331	10	0.31617	T	0.26	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	1520;1553	Q01484;Q01484-4	ANK2_HUMAN;.	K	1466;1568;1553;1520	ENSP00000421011:E1466K;ENSP00000424722:E1568K;ENSP00000349588:E1553K;ENSP00000264366:E1520K	ENSP00000264366:E1520K	E	+	1	0	ANK2	114493880	1.000000	0.71417	0.972000	0.41901	0.937000	0.57800	6.839000	0.75364	2.500000	0.84329	0.650000	0.86243	GAA	ANK2	-	NULL	ENSG00000145362		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	35	0.00	0	G	NM_001148		114274431	114274431	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	1.000	A
ANK3	288	genome.wustl.edu	37	10	61833092	61833092	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:61833092G>C	ENST00000280772.2	-	37	7738	c.7547C>G	c.(7546-7548)tCc>tGc	p.S2516C	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2516					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						ATAGATTTTGGAGAGAATTTC	0.413																																						dbGAP											0													102.0	111.0	108.0					10																	61833092		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.7547C>G	10.37:g.61833092G>C	ENSP00000280772:p.Ser2516Cys		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.S2516C	ENST00000280772.2	37	c.7547	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275634	0.40294	.	.	ENSG00000151150	ENST00000280772	T	0.66280	-0.2	5.47	5.47	0.80525	.	0.000000	0.41823	D	0.000813	T	0.62146	0.2404	L	0.50333	1.59	0.80722	D	1	D	0.59357	0.985	B	0.43754	0.43	T	0.65940	-0.6046	10	0.51188	T	0.08	.	19.3349	0.94312	0.0:0.0:1.0:0.0	.	2516	Q12955	ANK3_HUMAN	C	2516	ENSP00000280772:S2516C	ENSP00000280772:S2516C	S	-	2	0	ANK3	61503098	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.044000	0.64214	2.564000	0.86499	0.462000	0.41574	TCC	ANK3	-	NULL	ENSG00000151150		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	38	0.00	0	G	NM_020987		61833092	61833092	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	47	31.88	22	SNP	1.000	C
ANK3	288	genome.wustl.edu	37	10	62029921	62029921	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:62029921C>G	ENST00000280772.2	-	5	672	c.481G>C	c.(481-483)Gac>Cac	p.D161H	ANK3_ENST00000503366.1_Missense_Mutation_p.D144H|ANK3_ENST00000373827.2_Missense_Mutation_p.D155H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	161					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						GCACCATTGTCAAGAAGAAAC	0.418																																						dbGAP											0													83.0	88.0	86.0					10																	62029921		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.481G>C	10.37:g.62029921C>G	ENSP00000280772:p.Asp161His		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.D161H	ENST00000280772.2	37	c.481	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779637	0.90195	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.67345	-0.26;-0.22;-0.22;-0.22	4.87	4.87	0.63330	Ankyrin repeat-containing domain (4);	0.000000	0.42053	D	0.000779	T	0.75258	0.3825	L	0.37750	1.13	0.80722	D	1	P;D;D	0.76494	0.788;0.99;0.999	B;D;D	0.70487	0.438;0.964;0.969	T	0.78298	-0.2258	10	0.87932	D	0	.	18.201	0.89838	0.0:1.0:0.0:0.0	.	144;155;161	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	H	161;155;144;123;135	ENSP00000280772:D161H;ENSP00000362933:D155H;ENSP00000425236:D144H;ENSP00000426011:D135H	ENSP00000280772:D161H	D	-	1	0	ANK3	61699927	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.627000	0.83176	2.526000	0.85167	0.455000	0.32223	GAC	ANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151150		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	61	0.00	0	C	NM_020987		62029921	62029921	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	35	40.62	26	SNP	1.000	G
ANKHD1	54882	genome.wustl.edu	37	5	139907821	139907821	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:139907821C>G	ENST00000360839.2	+	29	5444	c.5290C>G	c.(5290-5292)Caa>Gaa	p.Q1764E	ANKHD1_ENST00000297183.6_Missense_Mutation_p.Q1764E|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_Missense_Mutation_p.Q147E|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Q1764E	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1764						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACTCATTCAAGATCCTGC	0.368																																						dbGAP											0													77.0	75.0	76.0					5																	139907821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5290C>G	5.37:g.139907821C>G	ENSP00000354085:p.Gln1764Glu		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.S254*	ENST00000360839.2	37	c.761	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.15|17.15	3.317101|3.317101	0.60524|0.60524	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T;T|.	0.62232|.	0.04;0.04;0.04;0.04;0.04;0.04|.	4.79|4.79	4.79|4.79	0.61399|0.61399	K Homology (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69548|.	0.3123|.	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D;P;P;P;P|.	0.60160|.	0.987;0.956;0.956;0.924;0.924|.	D;D;D;P;P|.	0.66351|.	0.943;0.931;0.931;0.9;0.9|.	T|.	0.66567|.	-0.5891|.	10|.	0.62326|.	D|.	0.03|.	.|.	18.3876|18.3876	0.90471|0.90471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	147;194;1764;1764;1764|.	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	E|X	1764;1764;1764;420;199;286;147;1764|254;214	ENSP00000354085:Q1764E;ENSP00000297183:Q1764E;ENSP00000393204:Q420E;ENSP00000390034:Q286E;ENSP00000437687:Q147E;ENSP00000432016:Q1764E|.	ENSP00000432016:Q1764E|.	Q|S	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139888005|139888005	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.278000|7.278000	0.78587|0.78587	2.646000|2.646000	0.89796|0.89796	0.655000|0.655000	0.94253|0.94253	CAA|TCA	ANKHD1	-	smart_KH_dom	ENSG00000131503		0.368	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	39	0.00	0	C	NM_017747		139907821	139907821	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000435794	ensembl	human	novel	69_37n	nonsense	41	40.58	28	SNP	1.000	G
ANKIB1	54467	genome.wustl.edu	37	7	92017328	92017328	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:92017328G>C	ENST00000265742.3	+	14	2255	c.1879G>C	c.(1879-1881)Gag>Cag	p.E627Q		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	627							zinc ion binding (GO:0008270)	p.E627K(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAAAGATGGAGCAATTGAG	0.303																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											45.0	40.0	42.0					7																	92017328		1808	4062	5870	-	-	-	SO:0001583	missense	0			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1879G>C	7.37:g.92017328G>C	ENSP00000265742:p.Glu627Gln		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING	p.E627Q	ENST00000265742.3	37	c.1879	CCDS47639.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964523	0.74131	.	.	ENSG00000001629	ENST00000265742	T	0.12465	2.68	5.47	5.47	0.80525	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.17280	0.0415	L	0.43152	1.355	0.58432	D	0.999991	P	0.45078	0.85	B	0.42422	0.387	T	0.00487	-1.1710	10	0.56958	D	0.05	.	17.8694	0.88807	0.0:0.0:1.0:0.0	.	627	Q9P2G1	AKIB1_HUMAN	Q	627	ENSP00000265742:E627Q	ENSP00000265742:E627Q	E	+	1	0	ANKIB1	91855264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.306000	0.78905	2.729000	0.93468	0.655000	0.94253	GAG	ANKIB1	-	smart_Znf_RING	ENSG00000001629		0.303	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKIB1	HGNC	protein_coding	OTTHUMT00000342018.1	72	0.00	0	G			92017328	92017328	+1	no_errors	ENST00000265742	ensembl	human	known	69_37n	missense	45	45.12	37	SNP	1.000	C
ANKMY1	51281	genome.wustl.edu	37	2	241465200	241465200	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:241465200C>T	ENST00000272972.3	-	6	1184	c.970G>A	c.(970-972)Gat>Aat	p.D324N	ANKMY1_ENST00000373318.2_Missense_Mutation_p.D183N|ANKMY1_ENST00000401804.1_Missense_Mutation_p.D413N|ANKMY1_ENST00000373320.4_Missense_Mutation_p.D94N|ANKMY1_ENST00000391987.1_Missense_Mutation_p.D324N|ANKMY1_ENST00000536462.1_Missense_Mutation_p.D136N|ANKMY1_ENST00000405002.1_Missense_Mutation_p.D94N|ANKMY1_ENST00000361678.4_Missense_Mutation_p.D183N|ANKMY1_ENST00000403283.1_Missense_Mutation_p.D262N|ANKMY1_ENST00000406958.1_Missense_Mutation_p.D183N|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000405523.3_Missense_Mutation_p.D183N	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	324							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGACCCTCATCTGAGCACTTG	0.572																																						dbGAP											0													183.0	151.0	162.0					2																	241465200		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.970G>A	2.37:g.241465200C>T	ENSP00000272972:p.Asp324Asn		B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.D324N	ENST00000272972.3	37	c.970	CCDS2536.1	2	.	.	.	.	.	.	.	.	.	.	C	9.914	1.210428	0.22289	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002;ENST00000441168	T;T;T;T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.22;-0.09;-0.42;-0.09;-0.42;-0.42;-0.09;-0.42;-0.22;-0.42;-0.42	3.63	3.63	0.41609	Ankyrin repeat-containing domain (3);	0.397457	0.22313	N	0.061703	T	0.66809	0.2827	N	0.13352	0.335	0.19575	N	0.999961	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.996;1.0	D;D;D;D;D;D;D	0.91635	0.989;0.999;0.999;0.996;0.995;0.99;0.989	T	0.59830	-0.7380	10	0.40728	T	0.16	-13.8733	13.1442	0.59452	0.0:1.0:0.0:0.0	.	324;136;94;183;183;183;324	Q4ZFV3;F5H558;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;.;ANKY1_HUMAN	N	183;183;324;183;324;94;262;413;136;183;94;136	ENSP00000362415:D183N;ENSP00000384555:D183N;ENSP00000272972:D324N;ENSP00000355097:D183N;ENSP00000375847:D324N;ENSP00000362417:D94N;ENSP00000383968:D262N;ENSP00000385887:D413N;ENSP00000444707:D136N;ENSP00000385635:D183N;ENSP00000385145:D94N;ENSP00000405938:D136N	ENSP00000272972:D324N	D	-	1	0	ANKMY1	241113873	0.904000	0.30761	0.097000	0.21041	0.084000	0.17831	2.936000	0.48971	1.754000	0.51921	0.467000	0.42956	GAT	ANKMY1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000144504		0.572	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding	OTTHUMT00000257187.2	37	0.00	0	C	NM_017844		241465200	241465200	-1	no_errors	ENST00000272972	ensembl	human	known	69_37n	missense	20	53.33	24	SNP	0.465	T
ANKRD19P	138649	genome.wustl.edu	37	9	95575920	95575920	+	RNA	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:95575920G>A	ENST00000473204.1	+	0	526							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											GTGTGGAAGTGGTCACCCTCT	0.448																																						dbGAP											0													150.0	122.0	131.0					9																	95575920		692	1591	2283	-	-	-			0			BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95575920G>A			A8K853|Q17RD3	RNA	SNP	-	NULL	ENST00000473204.1	37	NULL		9																																																																																			ANKRD19P	-	-	ENSG00000187984		0.448	ANKRD19P-004	KNOWN	basic	processed_transcript	ANKRD19P	HGNC	pseudogene	OTTHUMT00000053116.3	82	0.00	0	G	NR_026868		95575920	95575920	+1	no_errors	ENST00000460854	ensembl	human	known	69_37n	rna	109	35.67	61	SNP	0.902	A
ANKRD27	84079	genome.wustl.edu	37	19	33117720	33117720	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:33117720G>C	ENST00000306065.4	-	16	1592	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	478					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.L478L(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGAGGTCGATGAGGGATGCCT	0.572																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											76.0	61.0	66.0					19																	33117720		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1434C>G	19.37:g.33117720G>C			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.L478	ENST00000306065.4	37	c.1434	CCDS32986.1	19																																																																																			ANKRD27	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000105186		0.572	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	55	0.00	0	G	NM_032139		33117720	33117720	-1	no_errors	ENST00000306065	ensembl	human	known	69_37n	silent	22	52.17	24	SNP	1.000	C
ANKRD36BP2	645784	genome.wustl.edu	37	2	89086148	89086148	+	RNA	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:89086148C>G	ENST00000393525.3	+	0	881									ankyrin repeat domain 36B pseudogene 2																		AATATTGCCACAAGAATAATG	0.333																																						dbGAP											0																																										-	-	-			0					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89086148C>G				RNA	SNP	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-	ENSG00000230006		0.333	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	193	0.00	0	C			89086148	89086148	+1	no_errors	ENST00000393515	ensembl	human	known	69_37n	rna	169	36.57	98	SNP	0.002	G
ANKRD36	375248	genome.wustl.edu	37	2	97911366	97911366	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:97911366C>G	ENST00000461153.2	+	71	5286	c.5042C>G	c.(5041-5043)tCt>tGt	p.S1681C	ANKRD36_ENST00000420699.2_Missense_Mutation_p.S1681C|ANKRD36_ENST00000357042.4_5'Flank			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1681										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGCAACTTTCTAAAGCTGAG	0.413																																						dbGAP											0													10.0	7.0	8.0					2																	97911366		677	1532	2209	-	-	-	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.5042C>G	2.37:g.97911366C>G	ENSP00000419530:p.Ser1681Cys		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S1681C	ENST00000461153.2	37	c.5042	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	12.28	1.889758	0.33348	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.18174	2.23;2.23	1.4	1.4	0.22301	.	.	.	.	.	T	0.36552	0.0971	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.79784	0.926;0.993	T	0.23084	-1.0198	9	0.87932	D	0	.	3.7681	0.08630	0.0:0.7614:0.0:0.2385	.	1681;505	A6QL64;A6QL64-3	AN36A_HUMAN;.	C	1681;1681;948	ENSP00000419530:S1681C;ENSP00000391950:S1681C	ENSP00000391950:S1681C	S	+	2	0	ANKRD36	97275084	1.000000	0.71417	0.959000	0.39883	0.098000	0.18820	2.088000	0.41663	1.081000	0.41110	0.184000	0.17185	TCT	ANKRD36	-	NULL	ENSG00000135976		0.413	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	32	0.00	0	C			97911366	97911366	+1	no_errors	ENST00000420699	ensembl	human	known	69_37n	missense	29	32.56	14	SNP	0.998	G
ANKRD6	22881	genome.wustl.edu	37	6	90276727	90276727	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:90276727C>T	ENST00000522441.1	+	2	673	c.32C>T	c.(31-33)tCa>tTa	p.S11L	ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.S11L|ANKRD6_ENST00000339746.4_Missense_Mutation_p.S11L|ANKRD6_ENST00000485637.1_Missense_Mutation_p.S11L|RP11-16C18.3_ENST00000438267.1_RNA|RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000369408.5_Missense_Mutation_p.S11L|ANKRD6_ENST00000447838.2_Missense_Mutation_p.S11L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	11					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GCTGCACTTTCAGAGCGCCTT	0.507																																						dbGAP											0													51.0	51.0	51.0					6																	90276727		1962	4156	6118	-	-	-	SO:0001583	missense	0			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.32C>T	6.37:g.90276727C>T	ENSP00000430985:p.Ser11Leu		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S11L	ENST00000522441.1	37	c.32	CCDS56441.1	6	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942616	0.92526	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000520458;ENST00000465722;ENST00000523798;ENST00000522441;ENST00000522779;ENST00000485637;ENST00000522705;ENST00000518150;ENST00000520793	T;T;T;T;T;T;T;T;T;T	0.68181	1.13;1.05;1.05;0.47;-0.2;0.82;1.05;-0.26;1.09;-0.31	5.89	5.03	0.67393	.	0.180238	0.27513	N	0.019031	T	0.74543	0.3730	M	0.62723	1.935	0.46096	D	0.998862	D;D;D;D	0.89917	0.987;0.999;1.0;1.0	D;D;D;D	0.85130	0.942;0.994;0.997;0.996	T	0.79132	-0.1929	10	0.87932	D	0	-10.2724	15.2134	0.73244	0.0:0.9326:0.0:0.0674	.	11;11;11;11	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	L	11	ENSP00000358416:S11L;ENSP00000345767:S11L;ENSP00000396771:S11L;ENSP00000431061:S11L;ENSP00000429431:S11L;ENSP00000428377:S11L;ENSP00000430985:S11L;ENSP00000430954:S11L;ENSP00000428309:S11L;ENSP00000429782:S11L	ENSP00000345767:S11L	S	+	2	0	ANKRD6	90333446	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.412000	0.80091	1.499000	0.48617	0.655000	0.94253	TCA	ANKRD6	-	smart_Ankyrin_rpt	ENSG00000135299		0.507	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1	169	0.00	0	C			90276727	90276727	+1	no_errors	ENST00000339746	ensembl	human	known	69_37n	missense	40	33.87	21	SNP	1.000	T
ANKRD6	22881	genome.wustl.edu	37	6	90331670	90331670	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:90331670G>C	ENST00000522441.1	+	10	1463	c.822G>C	c.(820-822)ctG>ctC	p.L274L	LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Silent_p.L215L|ANKRD6_ENST00000339746.4_Silent_p.L274L|ANKRD6_ENST00000369408.5_Intron|ANKRD6_ENST00000447838.2_Silent_p.L274L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	274					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GGCGAAGCCTGAGGAAAAAGA	0.572																																						dbGAP											0													62.0	69.0	67.0					6																	90331670		1988	4153	6141	-	-	-	SO:0001819	synonymous_variant	0			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.822G>C	6.37:g.90331670G>C			B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L274	ENST00000522441.1	37	c.822	CCDS56441.1	6																																																																																			ANKRD6	-	NULL	ENSG00000135299		0.572	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1	34	0.00	0	G			90331670	90331670	+1	no_errors	ENST00000339746	ensembl	human	known	69_37n	silent	20	28.57	8	SNP	1.000	C
ANO1	55107	genome.wustl.edu	37	11	70007759	70007759	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:70007759G>C	ENST00000355303.5	+	18	2117	c.1812G>C	c.(1810-1812)gaG>gaC	p.E604D	ANO1_ENST00000316296.5_Missense_Mutation_p.E546D|ANO1_ENST00000530676.1_Missense_Mutation_p.E458D|ANO1_ENST00000398543.2_Missense_Mutation_p.E458D|ANO1_ENST00000531349.1_Missense_Mutation_p.E313D|ANO1_ENST00000538023.1_Missense_Mutation_p.E604D	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	604					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GCTTTGAGGAGAGGCTGATCT	0.532																																						dbGAP											0													172.0	180.0	177.0					11																	70007759		1928	4128	6056	-	-	-	SO:0001583	missense	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1812G>C	11.37:g.70007759G>C	ENSP00000347454:p.Glu604Asp		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.E604D	ENST00000355303.5	37	c.1812	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914332	0.33815	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	5.01	-0.604	0.11626	.	0.188664	0.44688	D	0.000437	T	0.38161	0.1030	N	0.13198	0.31	0.46678	D	0.99915	B;B;B	0.28783	0.222;0.034;0.171	B;B;B	0.37943	0.168;0.017;0.261	T	0.02837	-1.1104	9	.	.	.	.	1.9172	0.03300	0.3276:0.1255:0.419:0.1279	.	313;546;604	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	D	604;604;458;362;546;458;313	ENSP00000347454:E604D;ENSP00000444689:E604D;ENSP00000381551:E458D;ENSP00000319477:E546D;ENSP00000435797:E458D;ENSP00000432843:E313D	.	E	+	3	2	ANO1	69685407	0.937000	0.31787	0.999000	0.59377	0.991000	0.79684	0.024000	0.13555	0.144000	0.18951	0.561000	0.74099	GAG	ANO1	-	pfam_Anoctamin	ENSG00000131620		0.532	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	77	0.00	0	G	NM_018043		70007759	70007759	+1	no_errors	ENST00000355303	ensembl	human	known	69_37n	missense	92	39.22	60	SNP	0.954	C
ANO6	196527	genome.wustl.edu	37	12	45740823	45740823	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:45740823G>A	ENST00000320560.8	+	4	500	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.E100K|ANO6_ENST00000435642.1_Missense_Mutation_p.E100K|ANO6_ENST00000423947.3_Missense_Mutation_p.E121K|ANO6_ENST00000441606.2_Missense_Mutation_p.E82K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	100					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACAAGCATACGAATCTAACCT	0.393																																						dbGAP											0													157.0	143.0	148.0					12																	45740823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.298G>A	12.37:g.45740823G>A	ENSP00000320087:p.Glu100Lys		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.E100K	ENST00000320560.8	37	c.298	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954443	0.73902	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.81819	0.4903	M	0.88241	2.94	0.53005	D	0.999967	D;P;D;D	0.76494	0.999;0.939;0.982;0.989	P;B;B;P	0.62649	0.905;0.393;0.383;0.563	D	0.84068	0.0378	10	0.56958	D	0.05	.	13.2894	0.60262	0.0:0.1592:0.8408:0.0	.	82;121;100;100	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	K	100;121;100;100;82	ENSP00000391417:E100K;ENSP00000409126:E121K;ENSP00000413840:E100K;ENSP00000320087:E100K;ENSP00000413137:E82K	ENSP00000320087:E100K	E	+	1	0	ANO6	44027090	1.000000	0.71417	0.953000	0.39169	0.911000	0.54048	4.265000	0.58865	2.797000	0.96272	0.563000	0.77884	GAA	ANO6	-	NULL	ENSG00000177119		0.393	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	86	0.00	0	G	XM_113743		45740823	45740823	+1	no_errors	ENST00000425752	ensembl	human	known	69_37n	missense	70	32.04	33	SNP	0.998	A
ANXA4	307	genome.wustl.edu	37	2	70047897	70047897	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:70047897G>A	ENST00000394295.4	+	12	1098	c.850G>A	c.(850-852)Gat>Aat	p.D284N	ANXA4_ENST00000409920.1_Missense_Mutation_p.D262N|ANXA4_ENST00000536030.1_Missense_Mutation_p.D200N	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	282					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGACATGTTGGATATCCGGGC	0.443																																						dbGAP											0													150.0	140.0	143.0					2																	70047897		2203	4300	6503	-	-	-	SO:0001583	missense	0			M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.850G>A	2.37:g.70047897G>A	ENSP00000377833:p.Asp284Asn		B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV	p.D284N	ENST00000394295.4	37	c.850	CCDS1894.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.333861	0.95758	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.03358	3.96;3.96;3.96	5.85	5.85	0.93711	Annexin repeat, conserved site (1);	0.043180	0.85682	D	0.000000	T	0.10165	0.0249	N	0.25426	0.745	0.80722	D	1	D;D;D	0.67145	0.987;0.996;0.987	P;D;P	0.70016	0.886;0.967;0.886	T	0.37888	-0.9686	9	.	.	.	.	17.6514	0.88165	0.0:0.0:1.0:0.0	.	282;262;284	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	N	262;284;200	ENSP00000386756:D262N;ENSP00000377833:D284N;ENSP00000441931:D200N	.	D	+	1	0	ANXA4	69901401	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.233000	0.72320	2.773000	0.95371	0.650000	0.86243	GAT	ANXA4	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat	ENSG00000196975		0.443	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA4	HGNC	protein_coding	OTTHUMT00000251848.2	76	0.00	0	G	NM_001153		70047897	70047897	+1	no_errors	ENST00000394295	ensembl	human	known	69_37n	missense	47	38.96	30	SNP	1.000	A
APBA1	320	genome.wustl.edu	37	9	72082803	72082803	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:72082803G>C	ENST00000265381.4	-	5	1640	c.1418C>G	c.(1417-1419)tCa>tGa	p.S473*	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	473	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						AGTTTTGTCTGAGAGCAGCTG	0.547																																						dbGAP											0													198.0	196.0	197.0					9																	72082803		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1418C>G	9.37:g.72082803G>C	ENSP00000265381:p.Ser473*		O14914|O60570|Q5VYR8	Nonsense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.S473*	ENST00000265381.4	37	c.1418	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	G	43	10.012292	0.99317	.	.	ENSG00000107282	ENST00000265381	.	.	.	5.69	5.69	0.88448	.	0.132723	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.4431	19.869	0.96843	0.0:0.0:1.0:0.0	.	.	.	.	X	473	.	ENSP00000265381:S473X	S	-	2	0	APBA1	71272623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.808000	0.99193	2.690000	0.91761	0.650000	0.86243	TCA	APBA1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000107282		0.547	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	57	0.00	0	G	NM_001163		72082803	72082803	-1	no_errors	ENST00000265381	ensembl	human	known	69_37n	nonsense	40	39.39	26	SNP	1.000	C
APCDD1	147495	genome.wustl.edu	37	18	10471549	10471549	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr18:10471549G>C	ENST00000355285.5	+	3	619	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	APCDD1_ENST00000578882.1_Missense_Mutation_p.E89Q	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GTCAGGCCCAGAGTTCATCAC	0.423																																						dbGAP											0													85.0	81.0	82.0					18																	10471549		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.265G>C	18.37:g.10471549G>C	ENSP00000347433:p.Glu89Gln			Missense_Mutation	SNP	NULL	p.E89Q	ENST00000355285.5	37	c.265	CCDS11849.1	18	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646821	0.47258	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.22134	1.97	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.64404	1.975	0.58432	D	0.999999	P	0.50710	0.938	P	0.54270	0.747	T	0.09840	-1.0656	10	0.49607	T	0.09	-36.8816	18.945	0.92618	0.0:0.0:1.0:0.0	.	89	Q8J025	APCD1_HUMAN	Q	89;140	ENSP00000347433:E89Q	ENSP00000347433:E89Q	E	+	1	0	APCDD1	10461549	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.471000	0.97696	2.477000	0.83638	0.655000	0.94253	GAG	APCDD1	-	NULL	ENSG00000154856		0.423	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	HGNC	protein_coding	OTTHUMT00000254529.2	38	0.00	0	G	NM_153000		10471549	10471549	+1	no_errors	ENST00000355285	ensembl	human	known	69_37n	missense	21	58.00	29	SNP	1.000	C
APLP2	334	genome.wustl.edu	37	11	129993576	129993576	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:129993576C>G	ENST00000263574.5	+	7	1064	c.992C>G	c.(991-993)tCc>tGc	p.S331C	APLP2_ENST00000528499.1_Intron|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Missense_Mutation_p.S341C|APLP2_ENST00000543137.1_Missense_Mutation_p.S238C|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000338167.5_Missense_Mutation_p.S331C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	331	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TTCGACCTCTCCAAGGGAAAG	0.542																																						dbGAP											0													121.0	115.0	117.0					11																	129993576		2201	4297	6498	-	-	-	SO:0001583	missense	0			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.992C>G	11.37:g.129993576C>G	ENSP00000263574:p.Ser331Cys		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.S331C	ENST00000263574.5	37	c.992	CCDS8486.1	11	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334481	0.60853	.	.	ENSG00000084234	ENST00000263574;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.87	5.87	0.94306	Proteinase inhibitor I2, Kunitz metazoa (5);	0.602700	0.18859	N	0.129198	T	0.68476	0.3005	M	0.71920	2.185	0.80722	D	1	D;D	0.61697	0.99;0.984	P;P	0.56788	0.806;0.634	T	0.70353	-0.4895	10	0.62326	D	0.03	-19.9232	10.2141	0.43158	0.1591:0.7048:0.1361:0.0	.	331;331	Q06481;Q06481-3	APLP2_HUMAN;.	C	331;331;341;238	ENSP00000263574:S331C;ENSP00000345444:S331C;ENSP00000278756:S341C;ENSP00000444122:S238C	ENSP00000263574:S331C	S	+	2	0	APLP2	129498786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.863000	0.39459	2.778000	0.95560	0.650000	0.86243	TCC	APLP2	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000084234		0.542	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	HGNC	protein_coding	OTTHUMT00000386109.1	74	0.00	0	C	NM_001642		129993576	129993576	+1	no_errors	ENST00000263574	ensembl	human	known	69_37n	missense	63	13.70	10	SNP	1.000	G
ARAP2	116984	genome.wustl.edu	37	4	36069774	36069774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:36069774G>A	ENST00000303965.4	-	33	5359	c.4870C>T	c.(4870-4872)Cga>Tga	p.R1624*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1624					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GGTCGATTTCGAAGTTTATCG	0.512																																						dbGAP											0													119.0	117.0	118.0					4																	36069774		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4870C>T	4.37:g.36069774G>A	ENSP00000302895:p.Arg1624*		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.R1624*	ENST00000303965.4	37	c.4870	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	G	48	13.993089	0.99774	.	.	ENSG00000047365	ENST00000303965	.	.	.	6.08	6.08	0.98989	.	0.180704	0.38111	N	0.001818	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1635	0.81734	0.0:0.0:1.0:0.0	.	.	.	.	X	1624	.	ENSP00000302895:R1624X	R	-	1	2	ARAP2	35746169	0.996000	0.38824	0.435000	0.26784	0.478000	0.33099	1.574000	0.36482	2.894000	0.99253	0.655000	0.94253	CGA	ARAP2	-	NULL	ENSG00000047365		0.512	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	100	0.00	0	G	NM_015230		36069774	36069774	-1	no_errors	ENST00000303965	ensembl	human	known	69_37n	nonsense	19	67.24	39	SNP	0.990	A
ARAP3	64411	genome.wustl.edu	37	5	141049551	141049551	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:141049551G>C	ENST00000239440.4	-	15	2252	c.2187C>G	c.(2185-2187)ctC>ctG	p.L729L	ARAP3_ENST00000513878.1_Silent_p.L391L|ARAP3_ENST00000508305.1_Silent_p.L631L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	729					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGGGCTGTATGAGGCTGAGGG	0.567																																						dbGAP											0													71.0	78.0	75.0					5																	141049551		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2187C>G	5.37:g.141049551G>C			B4DIT1|D3DQE3	Silent	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.L729	ENST00000239440.4	37	c.2187	CCDS4266.1	5																																																																																			ARAP3	-	smart_Pleckstrin_homology	ENSG00000120318		0.567	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	126	0.00	0	G	NM_022481		141049551	141049551	-1	no_errors	ENST00000239440	ensembl	human	known	69_37n	silent	47	30.88	21	SNP	0.991	C
ARHGAP24	83478	genome.wustl.edu	37	4	86921698	86921698	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:86921698G>C	ENST00000395184.1	+	10	2536	c.2070G>C	c.(2068-2070)gaG>gaC	p.E690D	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.E597D|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.E595D|RP13-514E23.2_ENST00000610225.1_RNA	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	690					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TGGATCAGGAGAGGAAAAAGT	0.448																																						dbGAP											0													70.0	72.0	71.0					4																	86921698		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.2070G>C	4.37:g.86921698G>C	ENSP00000378611:p.Glu690Asp		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.E690D	ENST00000395184.1	37	c.2070	CCDS34025.1	4	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086763	0.76642	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.56	-3.08	0.05347	.	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	L	0.59436	1.845	0.49483	D	0.999795	P;P;D	0.69078	0.886;0.944;0.997	P;P;D	0.72625	0.647;0.839;0.978	T	0.70622	-0.4821	10	0.46703	T	0.11	.	14.1366	0.65291	0.2912:0.0:0.7088:0.0	.	595;597;690	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	D	690;595;605;597	ENSP00000378611:E690D;ENSP00000378610:E595D;ENSP00000425589:E605D;ENSP00000264343:E597D	ENSP00000264343:E597D	E	+	3	2	ARHGAP24	87140722	1.000000	0.71417	0.985000	0.45067	0.967000	0.64934	0.865000	0.27940	-0.330000	0.08514	0.655000	0.94253	GAG	ARHGAP24	-	NULL	ENSG00000138639		0.448	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	55	0.00	0	G	NM_031305		86921698	86921698	+1	no_errors	ENST00000395184	ensembl	human	known	69_37n	missense	45	60.87	70	SNP	0.992	C
ARHGAP10	79658	genome.wustl.edu	37	4	148796228	148796228	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:148796228C>G	ENST00000336498.3	+	8	998	c.759C>G	c.(757-759)atC>atG	p.I253M		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TGAACAAAATCAGACAGAATC	0.433																																						dbGAP											0													105.0	100.0	102.0					4																	148796228		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.759C>G	4.37:g.148796228C>G	ENSP00000336923:p.Ile253Met		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.I253M	ENST00000336498.3	37	c.759	CCDS34075.1	4	.	.	.	.	.	.	.	.	.	.	C	5.301	0.240883	0.10077	.	.	ENSG00000071205	ENST00000336498	T	0.08458	3.09	4.85	2.14	0.27477	.	0.153341	0.56097	D	0.000030	T	0.02342	0.0072	N	0.03253	-0.375	0.80722	D	1	P	0.39480	0.675	B	0.35413	0.202	T	0.48340	-0.9044	10	0.02654	T	1	.	6.0018	0.19525	0.1404:0.6683:0.0:0.1913	.	253	A1A4S6	RHG10_HUMAN	M	253	ENSP00000336923:I253M	ENSP00000336923:I253M	I	+	3	3	ARHGAP10	149015678	0.935000	0.31712	0.999000	0.59377	0.975000	0.68041	0.054000	0.14205	0.182000	0.20032	0.650000	0.86243	ATC	ARHGAP10	-	NULL	ENSG00000071205		0.433	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP10	HGNC	protein_coding	OTTHUMT00000365005.1	128	0.00	0	C	NM_024605		148796228	148796228	+1	no_errors	ENST00000336498	ensembl	human	known	69_37n	missense	24	59.32	35	SNP	1.000	G
ARHGAP29	9411	genome.wustl.edu	37	1	94639529	94639529	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:94639529C>G	ENST00000260526.6	-	23	3864	c.3682G>C	c.(3682-3684)Gag>Cag	p.E1228Q	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1228					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCAAGCTCCTCAGAGTCTTCT	0.483																																						dbGAP											0													107.0	101.0	103.0					1																	94639529		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3682G>C	1.37:g.94639529C>G	ENSP00000260526:p.Glu1228Gln		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.E1228Q	ENST00000260526.6	37	c.3682	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	c	14.20	2.463937	0.43736	.	.	ENSG00000137962	ENST00000260526	T	0.31247	1.5	5.49	1.41	0.22369	.	0.614905	0.13490	N	0.384023	T	0.12732	0.0309	L	0.52573	1.65	0.80722	D	1	B	0.22983	0.078	B	0.22880	0.042	T	0.07028	-1.0794	10	0.59425	D	0.04	-6.048	7.7417	0.28845	0.0:0.4811:0.3763:0.1426	.	1228	Q52LW3	RHG29_HUMAN	Q	1228	ENSP00000260526:E1228Q	ENSP00000260526:E1228Q	E	-	1	0	ARHGAP29	94412117	0.900000	0.30661	0.018000	0.16275	0.244000	0.25665	1.745000	0.38278	0.008000	0.14787	-0.187000	0.12897	GAG	ARHGAP29	-	NULL	ENSG00000137962		0.483	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	55	0.00	0	C	NM_004815		94639529	94639529	-1	no_errors	ENST00000260526	ensembl	human	known	69_37n	missense	37	37.29	22	SNP	0.751	G
ARHGAP31	57514	genome.wustl.edu	37	3	119120914	119120914	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:119120914G>C	ENST00000264245.4	+	10	1847	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	439					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCGGCCTGTTGAGGATCCGGA	0.592																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													65.0	75.0	72.0					3																	119120914		1976	4156	6132	-	-	-	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1315G>C	3.37:g.119120914G>C	ENSP00000264245:p.Glu439Gln		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E439Q	ENST00000264245.4	37	c.1315	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845133	0.71603	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.09445	2.98	5.48	5.48	0.80851	.	0.069834	0.56097	D	0.000039	T	0.19167	0.0460	L	0.59436	1.845	0.49213	D	0.999763	D	0.61080	0.989	P	0.47299	0.543	T	0.00197	-1.1930	10	0.48119	T	0.1	.	18.5258	0.90971	0.0:0.0:1.0:0.0	.	439	Q2M1Z3	RHG31_HUMAN	Q	439	ENSP00000264245:E439Q	ENSP00000264245:E439Q	E	+	1	0	ARHGAP31	120603604	1.000000	0.71417	0.932000	0.37286	0.228000	0.25075	9.263000	0.95617	2.850000	0.98022	0.655000	0.94253	GAG	ARHGAP31	-	NULL	ENSG00000031081		0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	45	0.00	0	G			119120914	119120914	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	missense	21	40.00	14	SNP	0.999	C
ARHGEF11	9826	genome.wustl.edu	37	1	156933335	156933335	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:156933335C>G	ENST00000361409.2	-	11	1637	c.895G>C	c.(895-897)Gac>Cac	p.D299H	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D339H	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	299					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAACCCGGGTCATAGTCTTCC	0.428																																						dbGAP											0													95.0	108.0	104.0					1																	156933335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.895G>C	1.37:g.156933335C>G	ENSP00000354644:p.Asp299His		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.D339H	ENST00000361409.2	37	c.1015	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267247	0.80469	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.75704	-0.96;-0.96	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000035	T	0.71685	0.3369	L	0.32530	0.975	0.80722	D	1	D;D	0.58620	0.97;0.983	P;P	0.54590	0.575;0.756	T	0.75764	-0.3203	10	0.72032	D	0.01	-23.5314	18.909	0.92475	0.0:1.0:0.0:0.0	.	299;339	O15085;O15085-2	ARHGB_HUMAN;.	H	339;299	ENSP00000357177:D339H;ENSP00000354644:D299H	ENSP00000354644:D299H	D	-	1	0	ARHGEF11	155199959	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.873000	0.63057	2.556000	0.86216	0.655000	0.94253	GAC	ARHGEF11	-	NULL	ENSG00000132694		0.428	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	107	0.00	0	C	NM_198236		156933335	156933335	-1	no_errors	ENST00000368194	ensembl	human	known	69_37n	missense	86	38.57	54	SNP	1.000	G
ARHGEF18	23370	genome.wustl.edu	37	19	7529468	7529468	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:7529468C>G	ENST00000359920.6	+	13	2485	c.2232C>G	c.(2230-2232)gtC>gtG	p.V744V	ARHGEF18_ENST00000319670.9_Silent_p.V586V|CTD-2207O23.3_ENST00000593531.1_Nonsense_Mutation_p.S702*	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	744					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGAAGAAAGTCAGCAGCACTG	0.622																																						dbGAP											0													65.0	63.0	64.0					19																	7529468		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2232C>G	19.37:g.7529468C>G			A8MV62|B5ME81|O60274|Q6DD92	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V744	ENST00000359920.6	37	c.2232	CCDS45946.1	19																																																																																			ARHGEF18	-	NULL	ENSG00000104880		0.622	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	23	0.00	0	C	NM_015318		7529468	7529468	+1	no_errors	ENST00000359920	ensembl	human	known	69_37n	silent	29	36.96	17	SNP	0.000	G
ARHGEF9	23229	genome.wustl.edu	37	X	62974390	62974390	+	5'UTR	SNP	A	A	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:62974390A>G	ENST00000253401.6	-	0	603				ARHGEF9_ENST00000374870.4_5'UTR|ARHGEF9_ENST00000374872.1_5'UTR|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Intron|ARHGEF9_ENST00000374878.1_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9						apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|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)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GAAAAACATGAGTATGACATT	0.483																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.-198T>C	X.37:g.62974390A>G			A8K1S8|B4DHC7|F8W7P8|Q5JSL6	RNA	SNP	-	NULL	ENST00000253401.6	37	NULL	CCDS35315.1	X																																																																																			ARHGEF9	-	-	ENSG00000131089		0.483	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	12	0.00	0	A			62974390	62974390	-1	no_errors	ENST00000495564	ensembl	human	known	69_37n	rna	15	28.57	6	SNP	1.000	G
ARID1B	57492	genome.wustl.edu	37	6	157099283	157099283	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:157099283G>A	ENST00000350026.5	+	1	221	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	ARID1B_ENST00000275248.4_Missense_Mutation_p.E16K|RP11-230C9.3_ENST00000604792.1_RNA|ARID1B_ENST00000367148.1_Missense_Mutation_p.E74K|ARID1B_ENST00000346085.5_Missense_Mutation_p.E74K|MIR4466_ENST00000606121.1_RNA|RP11-230C9.2_ENST00000603191.1_lincRNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	74					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AACCGTTGGCGAAGCCCCCGC	0.701																																						dbGAP											0													13.0	26.0	22.0					6																	157099283		1635	2984	4619	-	-	-	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.220G>A	6.37:g.157099283G>A	ENSP00000055163:p.Glu74Lys		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E74K	ENST00000350026.5	37	c.220	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	g	12.97	2.097664	0.37048	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248	T;T;T;T	0.47177	0.85;0.85;0.85;4.62	2.44	1.36	0.22044	.	.	.	.	.	T	0.10551	0.0258	N	0.05124	-0.11	0.23758	N	0.996925	B;B;B	0.20988	0.029;0.05;0.05	B;B;B	0.19666	0.012;0.026;0.026	T	0.30446	-0.9978	9	0.41790	T	0.15	.	8.5376	0.33373	0.0:0.2397:0.7603:0.0	.	74;74;16	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	74;74;74;16	ENSP00000344546:E74K;ENSP00000055163:E74K;ENSP00000356116:E74K;ENSP00000275248:E16K	ENSP00000275248:E16K	E	+	1	0	ARID1B	157140975	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.712000	0.61888	1.074000	0.40909	0.373000	0.22412	GAA	ARID1B	-	NULL	ENSG00000049618		0.701	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	18	0.00	0	G	NM_020732		157099283	157099283	+1	no_errors	ENST00000367148	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	A
ARMC4	55130	genome.wustl.edu	37	10	28196616	28196616	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:28196616G>A	ENST00000305242.5	-	17	2678	c.2586C>T	c.(2584-2586)ctC>ctT	p.L862L	ARMC4_ENST00000537576.1_Silent_p.L554L|ARMC4_ENST00000545014.1_Silent_p.L387L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	862					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGCATGGACAGAGTGCCCATG	0.448																																						dbGAP											0													109.0	95.0	100.0					10																	28196616		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2586C>T	10.37:g.28196616G>A			A8K906|B7Z7I1|Q9H0C0	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.L862	ENST00000305242.5	37	c.2586	CCDS7157.1	10																																																																																			ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000169126		0.448	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	100	0.00	0	G	NM_018076		28196616	28196616	-1	no_errors	ENST00000305242	ensembl	human	known	69_37n	silent	46	45.88	39	SNP	0.175	A
ARL3	403	genome.wustl.edu	37	10	104445662	104445662	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:104445662C>G	ENST00000260746.5	-	5	543	c.412G>C	c.(412-414)Gaa>Caa	p.E138Q		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	138					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		TCTGCAATTTCAGAGGCAGGG	0.507																																						dbGAP											0													105.0	98.0	100.0					10																	104445662		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.412G>C	10.37:g.104445662C>G	ENSP00000260746:p.Glu138Gln		B2R6C7|Q53X83|Q5JSM2	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_ProtSyn_GTP-bd,pfam_ATPase_AAA_core,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,prints_Gprotein_alpha_su,tigrfam_Small_GTP-bd_dom	p.E138Q	ENST00000260746.5	37	c.412	CCDS7538.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.417146	0.96092	.	.	ENSG00000138175	ENST00000260746	T	0.68479	-0.33	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	M	0.80982	2.52	0.80722	D	1	P	0.44195	0.828	P	0.52646	0.705	T	0.81156	-0.1061	10	0.66056	D	0.02	-30.8174	20.301	0.98609	0.0:1.0:0.0:0.0	.	138	P36405	ARL3_HUMAN	Q	138	ENSP00000260746:E138Q	ENSP00000260746:E138Q	E	-	1	0	ARL3	104435652	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.809000	0.96659	0.555000	0.69702	GAA	ARL3	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR	ENSG00000138175		0.507	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL3	HGNC	protein_coding	OTTHUMT00000050088.2	61	0.00	0	C	NM_004311		104445662	104445662	-1	no_errors	ENST00000260746	ensembl	human	known	69_37n	missense	38	44.93	31	SNP	1.000	G
ARSE	415	genome.wustl.edu	37	X	2861117	2861117	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:2861117C>G	ENST00000381134.3	-	8	1181	c.1115G>C	c.(1114-1116)gGa>gCa	p.G372A	ARSE_ENST00000540563.1_Missense_Mutation_p.G327A|ARSE_ENST00000545496.1_Missense_Mutation_p.G397A	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	372					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTATAAATTCCATTCCAGCC	0.468																																						dbGAP											0													104.0	100.0	101.0					X																	2861117		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1115G>C	X.37:g.2861117C>G	ENSP00000370526:p.Gly372Ala		Q53FT2|Q53FU8	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.G397A	ENST00000381134.3	37	c.1190	CCDS14122.1	X	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424760	0.25639	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.98732	-5.1;-5.1;-5.1	3.66	2.78	0.32641	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.181578	0.46442	D	0.000298	D	0.98811	0.9599	M	0.79011	2.435	0.42224	D	0.991869	D;D;D	0.69078	0.993;0.997;0.997	D;D;D	0.74023	0.943;0.927;0.982	D	0.99208	1.0875	10	0.72032	D	0.01	.	11.6398	0.51227	0.0:0.8223:0.1777:0.0	.	327;397;372	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	A	327;397;372	ENSP00000438198:G327A;ENSP00000441417:G397A;ENSP00000370526:G372A	ENSP00000370526:G372A	G	-	2	0	ARSE	2871117	1.000000	0.71417	0.013000	0.15412	0.001000	0.01503	6.039000	0.70972	0.529000	0.28599	-0.218000	0.12543	GGA	ARSE	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000157399		0.468	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSE	HGNC	protein_coding	OTTHUMT00000055643.1	82	0.00	0	C	NM_000047		2861117	2861117	-1	no_errors	ENST00000545496	ensembl	human	known	69_37n	missense	46	50.00	46	SNP	0.990	G
ASAP1	50807	genome.wustl.edu	37	8	131130824	131130824	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:131130824C>T	ENST00000518721.1	-	19	1932	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	ASAP1_ENST00000357668.1_Missense_Mutation_p.E569K	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	569					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.E569Q(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTGATGGCCTCAAGCAATTCA	0.418																																						dbGAP											1	Substitution - Missense(1)	breast(1)											122.0	113.0	116.0					8																	131130824		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1705G>A	8.37:g.131130824C>T	ENSP00000429900:p.Glu569Lys		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,prints_ArfGAP,prints_p67phox,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP	p.E569K	ENST00000518721.1	37	c.1705	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382793	0.82792	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.07114	3.22;3.22	5.86	5.86	0.93980	Ankyrin repeat-containing domain (1);	0.157017	0.56097	D	0.000029	T	0.10380	0.0254	L	0.38531	1.155	0.80722	D	1	B;B;B	0.20261	0.043;0.043;0.004	B;B;B	0.12156	0.007;0.007;0.003	T	0.08186	-1.0734	10	0.54805	T	0.06	.	19.1654	0.93555	0.0:1.0:0.0:0.0	.	569;569;572	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	K	572;569;569	ENSP00000350297:E569K;ENSP00000429900:E569K	ENSP00000344591:E572K	E	-	1	0	ASAP1	131200006	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	7.440000	0.80464	2.778000	0.95560	0.655000	0.94253	GAG	ASAP1	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000153317		0.418	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	67	0.00	0	C	NM_018482		131130824	131130824	-1	no_errors	ENST00000357668	ensembl	human	known	69_37n	missense	54	33.33	27	SNP	1.000	T
ASH1L	55870	genome.wustl.edu	37	1	155317560	155317560	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:155317560C>G	ENST00000368346.3	-	20	8344	c.7705G>C	c.(7705-7707)Gag>Cag	p.E2569Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.E2564Q|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2569					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTGAGGTCTCACTGCTGTCT	0.498																																						dbGAP											0													268.0	211.0	231.0					1																	155317560		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7705G>C	1.37:g.155317560C>G	ENSP00000357330:p.Glu2569Gln		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.E2569Q	ENST00000368346.3	37	c.7705		1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891724	0.91889	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89050	-2.46;-2.45	5.4	5.4	0.78164	.	0.093262	0.64402	D	0.000001	D	0.84401	0.5464	N	0.08118	0	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.58721	0.702;0.844	D	0.87353	0.2339	10	0.51188	T	0.08	.	18.9481	0.92630	0.0:1.0:0.0:0.0	.	2569;2564	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Q	2569;2564	ENSP00000357330:E2569Q;ENSP00000376204:E2564Q	ENSP00000357330:E2569Q	E	-	1	0	ASH1L	153584184	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.083000	0.76859	2.809000	0.96659	0.655000	0.94253	GAG	ASH1L	-	NULL	ENSG00000116539		0.498	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	211	0.00	0	C	NM_018489		155317560	155317560	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	missense	191	26.72	70	SNP	1.000	G
ASNS	440	genome.wustl.edu	37	7	97488553	97488553	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:97488553G>C	ENST00000394309.3	-	5	1116	c.645C>G	c.(643-645)ctC>ctG	p.L215L	ASNS_ENST00000455086.1_Silent_p.L132L|ASNS_ENST00000437628.1_Silent_p.L132L|ASNS_ENST00000394308.3_Silent_p.L215L|ASNS_ENST00000422745.1_Silent_p.L194L|ASNS_ENST00000175506.4_Silent_p.L215L|ASNS_ENST00000444334.1_Silent_p.L194L	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	215	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CATTGTCATAGAGGGCGTGCA	0.443																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	dbGAP											0													100.0	103.0	102.0					7																	97488553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.645C>G	7.37:g.97488553G>C			A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Silent	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.L215	ENST00000394309.3	37	c.645	CCDS5652.1	7																																																																																			ASNS	-	tigrfam_Asn_synth_AEB	ENSG00000070669		0.443	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1	47	0.00	0	G	NM_001673, NM_183356		97488553	97488553	-1	no_errors	ENST00000175506	ensembl	human	known	69_37n	silent	71	37.17	42	SNP	0.999	C
ASPM	259266	genome.wustl.edu	37	1	197069573	197069573	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:197069573G>A	ENST00000367409.4	-	18	9064	c.8808C>T	c.(8806-8808)acC>acT	p.T2936T	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2936	IQ 33. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 34. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAATTTTTATGGTGCTATTTT	0.279																																						dbGAP											0													23.0	25.0	24.0					1																	197069573		2174	4280	6454	-	-	-	SO:0001819	synonymous_variant	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8808C>T	1.37:g.197069573G>A			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.T2936	ENST00000367409.4	37	c.8808	CCDS1389.1	1																																																																																			ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066279		0.279	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	17	0.00	0	G	NM_018136		197069573	197069573	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	silent	29	30.95	13	SNP	1.000	A
ASTN1	460	genome.wustl.edu	37	1	176863769	176863769	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:176863769C>T	ENST00000367654.3	-	17	3104	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	ASTN1_ENST00000424564.2_Missense_Mutation_p.E957K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E957K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E957K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	965					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGAACCGGCTCAGCAGGGGTG	0.617																																						dbGAP											0													74.0	78.0	77.0					1																	176863769		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2893G>A	1.37:g.176863769C>T	ENSP00000356626:p.Glu965Lys		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.E965K	ENST00000367654.3	37	c.2893		1	.	.	.	.	.	.	.	.	.	.	C	34	5.304380	0.95601	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	L	0.46157	1.445	0.80722	D	1	D;D	0.56035	0.974;0.974	D;D	0.70487	0.969;0.969	T	0.45026	-0.9289	10	0.54805	T	0.06	-30.6154	18.8334	0.92150	0.0:1.0:0.0:0.0	.	957;957	O14525-2;B1AJS1	.;.	K	957;957;965;957;957	ENSP00000356629:E957K;ENSP00000354536:E957K;ENSP00000356626:E965K;ENSP00000395041:E957K	ENSP00000354536:E957K	E	-	1	0	ASTN1	175130392	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.990000	0.76225	2.640000	0.89533	0.655000	0.94253	GAG	ASTN1	-	smart_MACPF	ENSG00000152092		0.617	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		79	0.00	0	C	NM_004319		176863769	176863769	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	1.000	T
ASPM	259266	genome.wustl.edu	37	1	197070908	197070908	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:197070908G>C	ENST00000367409.4	-	18	7729	c.7473C>G	c.(7471-7473)ttC>ttG	p.F2491L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2491					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTACATCCTGAAAGTAGCCT	0.363																																						dbGAP											0													98.0	99.0	99.0					1																	197070908		2202	4298	6500	-	-	-	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7473C>G	1.37:g.197070908G>C	ENSP00000356379:p.Phe2491Leu		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.F2491L	ENST00000367409.4	37	c.7473	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	g	12.25	1.880808	0.33255	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.71579	-0.58	4.83	2.88	0.33553	.	0.150025	0.46145	D	0.000301	T	0.68384	0.2995	M	0.86805	2.84	0.80722	D	1	B;B	0.31503	0.146;0.326	B;B	0.31245	0.126;0.103	T	0.67711	-0.5600	10	0.48119	T	0.1	.	3.874	0.09048	0.3351:0.0:0.4837:0.1812	.	477;2491	E7EQ84;Q8IZT6	.;ASPM_HUMAN	L	2491;477	ENSP00000356379:F2491L	ENSP00000356376:F477L	F	-	3	2	ASPM	195337531	1.000000	0.71417	0.968000	0.41197	0.581000	0.36288	1.081000	0.30791	1.097000	0.41459	0.558000	0.71614	TTC	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS	ENSG00000066279		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	22	0.00	0	G	NM_018136		197070908	197070908	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	80	25.00	27	SNP	0.993	C
ATOH7	220202	genome.wustl.edu	37	10	69991102	69991102	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:69991102G>C	ENST00000373673.3	-	1	769	c.333C>G	c.(331-333)ctC>ctG	p.L111L	RP11-153K11.3_ENST00000444086.1_lincRNA	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	111					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|neural retina development (GO:0003407)|optic nerve development (GO:0021554)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)										GCTCACAGTGGAGACCCACCC	0.662																																						dbGAP											0													33.0	35.0	35.0					10																	69991102		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF418922	CCDS7276.1	10q22.2	2013-05-21			ENSG00000179774	ENSG00000179774		"""Basic helix-loop-helix proteins"""	13907	protein-coding gene	gene with protein product		609875				11889557	Standard	NM_145178		Approved	Math5, bHLHa13	uc001jnq.3	Q8N100	OTTHUMG00000018346	ENST00000373673.3:c.333C>G	10.37:g.69991102G>C				Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.L111	ENST00000373673.3	37	c.333	CCDS7276.1	10																																																																																			ATOH7	-	superfamily_HLH_DNA-bd	ENSG00000179774		0.662	ATOH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH7	HGNC	protein_coding	OTTHUMT00000048312.1	20	0.00	0	G			69991102	69991102	-1	no_errors	ENST00000373673	ensembl	human	known	69_37n	silent	7	46.15	6	SNP	0.367	C
ATP10A	57194	genome.wustl.edu	37	15	25966966	25966966	+	Missense_Mutation	SNP	C	C	T	rs201206599		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:25966966C>T	ENST00000356865.6	-	7	1312	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	401					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E401K(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTGTTTCTTCGTCATACAAC	0.418																																						dbGAP											1	Substitution - Missense(1)	NS(1)											137.0	125.0	129.0					15																	25966966		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1201G>A	15.37:g.25966966C>T	ENSP00000349325:p.Glu401Lys		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E401K	ENST00000356865.6	37	c.1201	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812495	0.50527	.	.	ENSG00000206190	ENST00000356865	T	0.47528	0.84	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	L	0.55017	1.72	0.58432	D	0.999996	D	0.61697	0.99	P	0.56088	0.791	T	0.56709	-0.7934	10	0.40728	T	0.16	-19.9732	19.7649	0.96335	0.0:1.0:0.0:0.0	.	401	O60312	AT10A_HUMAN	K	401	ENSP00000349325:E401K	ENSP00000349325:E401K	E	-	1	0	ATP10A	23518059	1.000000	0.71417	0.109000	0.21407	0.129000	0.20672	5.752000	0.68728	2.673000	0.90976	0.643000	0.83706	GAA	ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000206190		0.418	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	63	0.00	0	C	NM_024490		25966966	25966966	-1	no_errors	ENST00000356865	ensembl	human	known	69_37n	missense	37	44.12	30	SNP	1.000	T
ATP2A3	489	genome.wustl.edu	37	17	3838501	3838501	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:3838501G>C	ENST00000352011.3	-	17	2649	c.2595C>G	c.(2593-2595)atC>atG	p.I865M	ATP2A3_ENST00000309890.7_Missense_Mutation_p.I865M|ATP2A3_ENST00000397043.3_Missense_Mutation_p.I865M|ATP2A3_ENST00000397041.3_Missense_Mutation_p.I865M|ATP2A3_ENST00000397039.1_Missense_Mutation_p.I49M|ATP2A3_ENST00000397035.3_Missense_Mutation_p.I865M|ATP2A3_ENST00000359983.3_Missense_Mutation_p.I865M			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	865					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGTAGAAGTTGATGTGAGGTC	0.602											OREG0024094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(32;29 774 15719 37967)	dbGAP											0													68.0	62.0	64.0					17																	3838501		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2595C>G	17.37:g.3838501G>C	ENSP00000301387:p.Ile865Met	614	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	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.I865M	ENST00000352011.3	37	c.2595	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356731	0.24598	.	.	ENSG00000074370	ENST00000397043;ENST00000397039;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81;-3.81;-3.81	4.3	3.31	0.37934	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.193842	0.44483	D	0.000445	D	0.92028	0.7474	N	0.21583	0.68	0.28762	N	0.90083	B;B;B;B;B;B	0.26081	0.141;0.001;0.002;0.005;0.005;0.001	B;B;B;B;B;B	0.36244	0.22;0.005;0.016;0.009;0.009;0.005	D	0.87621	0.2510	10	0.45353	T	0.12	.	14.0989	0.65042	0.0:0.1523:0.8477:0.0	.	865;865;865;865;865;865	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	M	865;49;865;865;865;865;865;865	ENSP00000380236:I865M;ENSP00000380232:I49M;ENSP00000301387:I865M;ENSP00000353072:I865M;ENSP00000380234:I865M;ENSP00000312577:I865M;ENSP00000380229:I865M	ENSP00000312577:I865M	I	-	3	3	ATP2A3	3785250	0.992000	0.36948	0.989000	0.46669	0.652000	0.38707	0.261000	0.18442	1.366000	0.46076	0.655000	0.94253	ATC	ATP2A3	-	pfam_ATPase_P-typ_cation-transptr_C	ENSG00000074370		0.602	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	25	0.00	0	G	NM_174953		3838501	3838501	-1	no_errors	ENST00000359983	ensembl	human	known	69_37n	missense	4	80.95	17	SNP	1.000	C
ATP2C1	27032	genome.wustl.edu	37	3	130686192	130686192	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:130686192G>C	ENST00000510168.1	+	16	1787	c.1237G>C	c.(1237-1239)Gat>Cat	p.D413H	ATP2C1_ENST00000505330.1_Missense_Mutation_p.D397H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.D413H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.D413H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.D408H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.D413H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.D397H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.D397H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.D413H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.D397H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.D447H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.D358H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.D413H			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	413					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGTGTGCAATGATGCTGTAAT	0.368									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	dbGAP											0													123.0	127.0	125.0					3																	130686192		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1237G>C	3.37:g.130686192G>C	ENSP00000427461:p.Asp413His		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	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,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.D447H	ENST00000510168.1	37	c.1339	CCDS46914.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.827253|4.827253	0.90955|0.90955	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.94092|.	-3.23;-3.29;-3.24;-3.26;-3.31;-3.24;-3.24;-3.23;-3.24;-3.35;-3.24;-3.25;-3.25|.	5.59|5.59	5.59|5.59	0.84812|0.84812	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68430|0.68430	0.3000|0.3000	L|L	0.42744|0.42744	1.35|1.35	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P;P|.	0.58620|.	0.979;0.983;0.965;0.979;0.965;0.942;0.953|.	P;P;D;P;D;P;P|.	0.66497|.	0.81;0.88;0.944;0.81;0.944;0.708;0.808|.	T|T	0.63363|0.63363	-0.6654|-0.6654	10|5	0.66056|.	D|.	0.02|.	.|.	19.5844|19.5844	0.95485|0.95485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	447;408;447;413;447;413;413|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	H|I	397;358;397;447;408;413;413;397;397;413;413;413;413;412|366	ENSP00000423774:D397H;ENSP00000425320:D358H;ENSP00000421326:D397H;ENSP00000376914:D447H;ENSP00000432956:D408H;ENSP00000427461:D413H;ENSP00000424783:D413H;ENSP00000423330:D397H;ENSP00000422872:D397H;ENSP00000329664:D413H;ENSP00000395809:D413H;ENSP00000352665:D413H;ENSP00000402677:D413H|.	ENSP00000329664:D413H|.	D|M	+|+	1|3	0|0	ATP2C1|ATP2C1	132168882|132168882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.212000|6.212000	0.72188|0.72188	2.638000|2.638000	0.89438|0.89438	0.585000|0.585000	0.79938|0.79938	GAT|ATG	ATP2C1	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000017260		0.368	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	138	0.00	0	G	NM_001001486		130686192	130686192	+1	no_errors	ENST00000393221	ensembl	human	known	69_37n	missense	87	44.23	69	SNP	1.000	C
ATRX	546	genome.wustl.edu	37	X	76972617	76972617	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:76972617G>C	ENST00000373344.5	-	2	338	c.124C>G	c.(124-126)Caa>Gaa	p.Q42E	ATRX_ENST00000373341.1_Missense_Mutation_p.Q3E|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Q42E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	42					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						CCTGTGTTTTGATTCATTGCA	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											170.0	155.0	160.0					X																	76972617		2203	4296	6499	-	-	-	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.124C>G	X.37:g.76972617G>C	ENSP00000362441:p.Gln42Glu		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.Q42E	ENST00000373344.5	37	c.124	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410622	0.25465	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862;ENST00000373341	D;D;D	0.96136	-3.92;-3.92;-3.92	4.85	3.89	0.44902	.	0.221058	0.27384	U	0.019608	D	0.89911	0.6852	N	0.22421	0.69	0.20638	N	0.999878	B;B;B;B	0.24368	0.013;0.079;0.102;0.013	B;B;B;B	0.24541	0.004;0.051;0.054;0.004	T	0.83170	-0.0094	10	0.56958	D	0.05	-9.2382	8.8163	0.34998	0.0:0.0:0.5132:0.4868	.	42;42;42;42	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	E	42;42;37;3	ENSP00000362441:Q42E;ENSP00000378967:Q42E;ENSP00000362438:Q3E	ENSP00000362438:Q3E	Q	-	1	0	ATRX	76859273	1.000000	0.71417	0.960000	0.40013	0.938000	0.57974	2.520000	0.45554	1.983000	0.57843	0.429000	0.28392	CAA	ATRX	-	NULL	ENSG00000085224		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	174	0.00	0	G	NM_000489		76972617	76972617	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	81	42.14	59	SNP	0.994	C
AVEN	57099	genome.wustl.edu	37	15	34295365	34295365	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:34295365C>T	ENST00000306730.3	-	2	442	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	105					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TTTCCCTGTTCATCATTCTCT	0.383																																						dbGAP											0													109.0	96.0	101.0					15																	34295365		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"""cell death regulator aven"", ""programmed cell death 12"""	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.313G>A	15.37:g.34295365C>T	ENSP00000306822:p.Glu105Lys			Missense_Mutation	SNP	NULL	p.E105K	ENST00000306730.3	37	c.313	CCDS10030.1	15	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435064	0.83885	.	.	ENSG00000169857	ENST00000306730	T	0.49432	0.78	4.92	4.92	0.64577	.	0.297439	0.36778	N	0.002410	T	0.50871	0.1641	L	0.55481	1.735	0.80722	D	1	P	0.44139	0.827	B	0.44133	0.442	T	0.57177	-0.7856	10	0.66056	D	0.02	-11.9389	17.9033	0.88911	0.0:1.0:0.0:0.0	.	105	Q9NQS1	AVEN_HUMAN	K	105	ENSP00000306822:E105K	ENSP00000306822:E105K	E	-	1	0	AVEN	32082657	0.955000	0.32602	0.787000	0.31911	0.938000	0.57974	3.812000	0.55628	2.558000	0.86282	0.585000	0.79938	GAA	AVEN	-	NULL	ENSG00000169857		0.383	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVEN	HGNC	protein_coding	OTTHUMT00000251523.2	63	0.00	0	C	NM_020371		34295365	34295365	-1	no_errors	ENST00000306730	ensembl	human	known	69_37n	missense	81	38.17	50	SNP	0.928	T
B3GALNT1	8706	genome.wustl.edu	37	3	160804565	160804565	+	5'UTR	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:160804565G>A	ENST00000392781.2	-	0	725				B3GALNT1_ENST00000392779.2_5'UTR|B3GALNT1_ENST00000473285.1_5'UTR|B3GALNT1_ENST00000320474.4_5'UTR|B3GALNT1_ENST00000392780.1_5'UTR|B3GALNT1_ENST00000488170.1_5'UTR|B3GALNT1_ENST00000417187.1_5'UTR	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)						oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AGAAGCACGCGAGCCGAAGGT	0.483																																						dbGAP											0													18.0	18.0	18.0					3																	160804565		2184	4253	6437	-	-	-	SO:0001623	5_prime_UTR_variant	0			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.-23C>T	3.37:g.160804565G>A			D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	NULL	p.S113L	ENST00000392781.2	37	c.338	CCDS3193.1	3	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019670	0.35606	.	.	ENSG00000169255	ENST00000460353	.	.	.	5.3	-3.58	0.04597	.	.	.	.	.	T	0.35653	0.0939	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.41484	-0.9506	5	0.54805	T	0.06	.	6.9625	0.24605	0.5266:0.1229:0.3505:0.0	.	.	.	.	L	113	.	ENSP00000417053:S113L	S	-	2	0	B3GALNT1	162287259	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.254000	0.08781	-1.121000	0.02949	-0.254000	0.11334	TCG	B3GALNT1	-	NULL	ENSG00000169255		0.483	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GALNT1	HGNC	protein_coding	OTTHUMT00000353125.1	10	0.00	0	G	NM_033167		160804565	160804565	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000460353	ensembl	human	putative	69_37n	missense	6	62.50	10	SNP	0.000	A
B3GNT7	93010	genome.wustl.edu	37	2	232263034	232263034	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:232263034G>A	ENST00000287590.5	+	2	865	c.604G>A	c.(604-606)Gac>Aac	p.D202N		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	202					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CCTCTACGGCGACATCCTGCA	0.627																																						dbGAP											0													77.0	86.0	83.0					2																	232263034		2129	4238	6367	-	-	-	SO:0001583	missense	0			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.604G>A	2.37:g.232263034G>A	ENSP00000287590:p.Asp202Asn		B3KWY4|B7WNP0	Missense_Mutation	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.D202N	ENST00000287590.5	37	c.604	CCDS46540.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.080870	0.94050	.	.	ENSG00000156966	ENST00000287590	T	0.76578	-1.03	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93070	0.7794	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95764	0.8803	10	0.87932	D	0	.	17.7321	0.88380	0.0:0.0:1.0:0.0	.	202	Q8NFL0	B3GN7_HUMAN	N	202	ENSP00000287590:D202N	ENSP00000287590:D202N	D	+	1	0	B3GNT7	231971278	1.000000	0.71417	0.950000	0.38849	0.947000	0.59692	9.823000	0.99369	2.431000	0.82371	0.655000	0.94253	GAC	B3GNT7	-	pfam_Glyco_trans_31	ENSG00000156966		0.627	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT7	HGNC	protein_coding	OTTHUMT00000332827.1	9	0.00	0	G	NM_145236		232263034	232263034	+1	no_errors	ENST00000287590	ensembl	human	known	69_37n	missense	5	70.59	12	SNP	1.000	A
BAAT	570	genome.wustl.edu	37	9	104130594	104130594	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:104130594G>A	ENST00000395051.3	-	2	547	c.477C>T	c.(475-477)ctC>ctT	p.L159L	BAAT_ENST00000259407.2_Silent_p.L159L			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	159					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CCCCTGGGAAGAGACCCTCTC	0.438																																						dbGAP											0													45.0	40.0	42.0					9																	104130594		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.477C>T	9.37:g.104130594G>A			Q3B7W9|Q96L31	Silent	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.L159	ENST00000395051.3	37	c.477	CCDS6752.1	9																																																																																			BAAT	-	pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000136881		0.438	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	57	0.00	0	G			104130594	104130594	-1	no_errors	ENST00000259407	ensembl	human	known	69_37n	silent	31	50.00	31	SNP	0.008	A
BAZ1A	11177	genome.wustl.edu	37	14	35262107	35262107	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:35262107C>G	ENST00000382422.2	-	11	1711	c.1384G>C	c.(1384-1386)Gta>Cta	p.V462L	BAZ1A_ENST00000358716.4_Missense_Mutation_p.V462L|BAZ1A_ENST00000360310.1_Missense_Mutation_p.V462L			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	462	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TCATTTCCTACAAGAGCTTCC	0.358																																						dbGAP											0													106.0	101.0	103.0					14																	35262107		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1384G>C	14.37:g.35262107C>G	ENSP00000371859:p.Val462Leu		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.V462L	ENST00000382422.2	37	c.1384	CCDS9651.1	14	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027539	0.75390	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	D;D;D	0.90676	-2.71;-2.71;-2.71	5.08	5.08	0.68730	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	0.000000	0.85682	D	0.000000	D	0.90324	0.6973	N	0.11427	0.14	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.80764	0.987;0.994	D	0.90888	0.4759	10	0.36615	T	0.2	.	18.8467	0.92210	0.0:1.0:0.0:0.0	.	462;462	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	L	462;462;462;146	ENSP00000351555:V462L;ENSP00000371859:V462L;ENSP00000353458:V462L	ENSP00000351555:V462L	V	-	1	0	BAZ1A	34331858	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.286000	0.65639	2.527000	0.85204	0.655000	0.94253	GTA	BAZ1A	-	pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily	ENSG00000198604		0.358	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	65	0.00	0	C			35262107	35262107	-1	no_errors	ENST00000360310	ensembl	human	known	69_37n	missense	61	41.35	43	SNP	1.000	G
BAZ1A	11177	genome.wustl.edu	37	14	35264070	35264070	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:35264070C>T	ENST00000382422.2	-	10	1575	c.1248G>A	c.(1246-1248)gtG>gtA	p.V416V	BAZ1A_ENST00000358716.4_Silent_p.V416V|BAZ1A_ENST00000360310.1_Silent_p.V416V			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	416					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.V416V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTCTAGTTTTCACTGGTGTTG	0.363																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											79.0	73.0	75.0					14																	35264070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1248G>A	14.37:g.35264070C>T			Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.V416	ENST00000382422.2	37	c.1248	CCDS9651.1	14																																																																																			BAZ1A	-	NULL	ENSG00000198604		0.363	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	29	0.00	0	C			35264070	35264070	-1	no_errors	ENST00000360310	ensembl	human	known	69_37n	silent	28	39.13	18	SNP	1.000	T
BBS9	27241	genome.wustl.edu	37	7	33296943	33296943	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:33296943C>G	ENST00000242067.6	+	6	1059	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	BBS9_ENST00000425508.2_Missense_Mutation_p.L135V|BBS9_ENST00000354265.4_Missense_Mutation_p.L180V|BBS9_ENST00000396127.2_Missense_Mutation_p.L180V|BBS9_ENST00000355070.2_Missense_Mutation_p.L180V|BBS9_ENST00000350941.3_Missense_Mutation_p.L180V	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	180					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGGCTTTCTTCTGCCTGGTCC	0.433									Bardet-Biedl syndrome																													dbGAP											0													181.0	173.0	176.0					7																	33296943		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.538C>G	7.37:g.33296943C>G	ENSP00000242067:p.Leu180Val		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.L180V	ENST00000242067.6	37	c.538	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409236	0.62399	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.86	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.89136	0.6629	L	0.54908	1.71	0.44373	D	0.997279	D;D;D;D;D	0.89917	0.991;0.987;0.994;0.987;1.0	P;D;D;D;D	0.91635	0.895;0.921;0.95;0.921;0.999	D	0.86739	0.1953	10	0.36615	T	0.2	-9.3693	11.602	0.51008	0.0:0.8361:0.0:0.1639	.	180;180;180;180;180	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	V	180;180;180;180;180;180;180;135;58;58	ENSP00000242067:L180V;ENSP00000313122:L180V;ENSP00000379433:L180V;ENSP00000347182:L180V;ENSP00000346214:L180V;ENSP00000405151:L135V;ENSP00000388646:L58V	ENSP00000242067:L180V	L	+	1	2	BBS9	33263468	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	2.082000	0.41605	0.724000	0.32296	0.655000	0.94253	CTG	BBS9	-	NULL	ENSG00000122507		0.433	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	154	0.00	0	C			33296943	33296943	+1	no_errors	ENST00000242067	ensembl	human	known	69_37n	missense	101	42.61	75	SNP	1.000	G
BPTF	2186	genome.wustl.edu	37	17	65908442	65908442	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:65908442C>G	ENST00000321892.4	+	13	4881	c.4820C>G	c.(4819-4821)tCc>tGc	p.S1607C	BPTF_ENST00000335221.5_Missense_Mutation_p.S1607C|BPTF_ENST00000424123.3_Missense_Mutation_p.S1468C|BPTF_ENST00000306378.6_Missense_Mutation_p.S1481C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1607					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAAACAGCTCCGAAACAAAA	0.393																																						dbGAP											0													50.0	52.0	51.0					17																	65908442		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4820C>G	17.37:g.65908442C>G	ENSP00000315454:p.Ser1607Cys		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S1607C	ENST00000321892.4	37	c.4820		17	.	.	.	.	.	.	.	.	.	.	C	1.054	-0.674998	0.03378	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63096	-0.02;-0.02;-0.02	4.72	0.135	0.14775	.	.	.	.	.	T	0.53174	0.1780	N	0.24115	0.695	0.09310	N	1	P;D	0.54964	0.944;0.969	P;P	0.50970	0.634;0.655	T	0.46541	-0.9184	9	0.46703	T	0.11	3.0944	8.6365	0.33950	0.0:0.2452:0.0:0.7548	.	1481;1607	Q12830-2;Q12830-4	.;.	C	1481;1607;1607	ENSP00000307208:S1481C;ENSP00000334351:S1607C;ENSP00000315454:S1607C	ENSP00000307208:S1481C	S	+	2	0	BPTF	63338904	0.000000	0.05858	0.174000	0.22961	0.083000	0.17756	0.492000	0.22435	0.072000	0.16694	-0.142000	0.14014	TCC	BPTF	-	NULL	ENSG00000171634		0.393	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		14	0.00	0	C	NM_182641, NM_004459		65908442	65908442	+1	no_errors	ENST00000321892	ensembl	human	known	69_37n	missense	23	39.47	15	SNP	0.003	G
BAIAP2L1	55971	genome.wustl.edu	37	7	97920524	97920524	+	IGR	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:97920524G>A	ENST00000005260.8	-	0	3622				BRI3_ENST00000297290.3_Missense_Mutation_p.R116Q|BRI3_ENST00000473967.1_3'UTR|BRI3_ENST00000539286.1_Intron	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1						filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			AGGAAGCGACGATGCCCCAAC	0.512																																						dbGAP											0													147.0	105.0	120.0					7																	97920524		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117		7.37:g.97920524G>A			A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	pfam_Brain_I3	p.R116Q	ENST00000005260.8	37	c.347	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998125	0.93227	.	.	ENSG00000164713	ENST00000297290	T	0.58797	0.31	5.51	4.43	0.53597	.	0.176261	0.43919	D	0.000511	T	0.69006	0.3063	M	0.68317	2.08	0.58432	D	0.999996	D	0.76494	0.999	P	0.58077	0.832	T	0.72994	-0.4122	10	0.72032	D	0.01	-5.3555	14.2953	0.66308	0.0843:0.0:0.9157:0.0	.	116	O95415	BRI3_HUMAN	Q	116	ENSP00000297290:R116Q	ENSP00000297290:R116Q	R	+	2	0	BRI3	97758460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.925000	0.87563	2.590000	0.87494	0.655000	0.94253	CGA	BRI3	-	pfam_Brain_I3	ENSG00000164713		0.512	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3	HGNC	protein_coding	OTTHUMT00000334681.1	86	0.00	0	G	NM_018842		97920524	97920524	+1	no_errors	ENST00000297290	ensembl	human	known	69_37n	missense	59	34.44	31	SNP	1.000	A
BRIP1	83990	genome.wustl.edu	37	17	59926597	59926597	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:59926597G>C	ENST00000259008.2	-	5	667	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V	BRIP1_ENST00000577598.1_Missense_Mutation_p.L134V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	134	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTGCAGCCAGAGTGGTTTTT	0.338			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													92.0	92.0	92.0					17																	59926597		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.400C>G	17.37:g.59926597G>C	ENSP00000259008:p.Leu134Val		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.L134V	ENST00000259008.2	37	c.400	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485352	0.63962	.	.	ENSG00000136492	ENST00000259008	T	0.55413	0.52	5.95	2.87	0.33458	DEAD-like helicase (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.332212	0.27526	N	0.018973	T	0.67458	0.2895	M	0.75777	2.31	0.37532	D	0.917975	D	0.76494	0.999	D	0.78314	0.991	T	0.70219	-0.4932	9	.	.	.	-5.7415	8.9088	0.35541	0.2345:0.0:0.7655:0.0	.	134	Q9BX63	FANCJ_HUMAN	V	134	ENSP00000259008:L134V	.	L	-	1	2	BRIP1	57281379	0.575000	0.26692	0.768000	0.31515	0.994000	0.84299	0.693000	0.25497	0.839000	0.34971	0.655000	0.94253	CTG	BRIP1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3	ENSG00000136492		0.338	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	110	0.00	0	G	NM_032043		59926597	59926597	-1	no_errors	ENST00000259008	ensembl	human	known	69_37n	missense	60	40.59	41	SNP	0.806	C
BTK	695	genome.wustl.edu	37	X	100609675	100609675	+	Missense_Mutation	SNP	C	C	G	rs128620183		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:100609675C>G	ENST00000308731.7	-	16	1737	c.1574G>C	c.(1573-1575)cGa>cCa	p.R525P	BTK_ENST00000372880.1_Missense_Mutation_p.R349P	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	525	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> G (in XLA). {ECO:0000269|PubMed:9545398}.|R -> P (in XLA). {ECO:0000269|PubMed:7711734}.|R -> Q (in XLA; severe; disturbs ATP- binding). {ECO:0000269|PubMed:7809124, ECO:0000269|PubMed:9445504}.		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAAACAGTTTCGAGCTGCCTG	0.468									Agammaglobulinemia, X-linked																													dbGAP											0			GRCh37	CM940199|CM950170	BTK	M	rs128620183						178.0	152.0	161.0					X																	100609675		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1574G>C	X.37:g.100609675C>G	ENSP00000308176:p.Arg525Pro		B2RAW1|Q32ML5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.R525P	ENST00000308731.7	37	c.1574	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948892	0.92660	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000308731	D;D	0.87809	-2.3;-2.3	5.83	5.83	0.93111	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	M	0.90705	3.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.997;0.959	D	0.95602	0.8664	10	0.87932	D	0	.	18.6987	0.91613	0.0:1.0:0.0:0.0	.	349;196;525	Q5JY90;Q3MS96;Q06187	.;.;BTK_HUMAN	P	349;74;525	ENSP00000361971:R349P;ENSP00000308176:R525P	ENSP00000308176:R525P	R	-	2	0	BTK	100496331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.693000	0.84214	2.460000	0.83146	0.600000	0.82982	CGA	BTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000010671		0.468	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	HGNC	protein_coding	OTTHUMT00000057532.2	48	0.00	0	C	NM_000061		100609675	100609675	-1	no_errors	ENST00000308731	ensembl	human	known	69_37n	missense	50	43.18	38	SNP	1.000	G
BTN3A3	10384	genome.wustl.edu	37	6	26444478	26444478	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:26444478T>C	ENST00000244519.2	+	4	622	c.379T>C	c.(379-381)Tat>Cat	p.Y127H	BTN3A3_ENST00000339789.4_Missense_Mutation_p.Y85H|BTN3A3_ENST00000361232.3_Missense_Mutation_p.Y85H	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	127	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GTACTTGTGTTATTTCCAAGA	0.498																																						dbGAP											0													113.0	112.0	112.0					6																	26444478		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.379T>C	6.37:g.26444478T>C	ENSP00000244519:p.Tyr127His		B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.Y127H	ENST00000244519.2	37	c.379	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	T	17.54	3.415194	0.62511	.	.	ENSG00000111801	ENST00000494393;ENST00000482451;ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000487627;ENST00000496719;ENST00000490254;ENST00000476281;ENST00000487272	T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	2.5	1.26	0.21427	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50051	0.1593	L	0.42632	1.34	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.34750	-0.9816	9	0.20519	T	0.43	.	6.105	0.20069	0.2279:0.0:0.0:0.7721	.	85;127	E9PCP5;O00478	.;BT3A3_HUMAN	H	127;109;127;85;85;85;85;127;85;85;85	ENSP00000417234:Y127H;ENSP00000419312:Y109H;ENSP00000244519:Y127H;ENSP00000344968:Y85H;ENSP00000417717:Y85H;ENSP00000355238:Y85H;ENSP00000420339:Y85H;ENSP00000420147:Y127H;ENSP00000419736:Y85H;ENSP00000419445:Y85H	ENSP00000244519:Y127H	Y	+	1	0	BTN3A3	26552457	0.000000	0.05858	0.001000	0.08648	0.993000	0.82548	-0.302000	0.08221	0.345000	0.23873	0.454000	0.30748	TAT	BTN3A3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000111801		0.498	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2	120	0.00	0	T	NM_006994		26444478	26444478	+1	no_errors	ENST00000244519	ensembl	human	known	69_37n	missense	89	35.51	49	SNP	0.003	C
BUB1B	701	genome.wustl.edu	37	15	40494852	40494852	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:40494852C>G	ENST00000287598.6	+	14	1886	c.1691C>G	c.(1690-1692)tCa>tGa	p.S564*	BUB1B_ENST00000412359.3_Nonsense_Mutation_p.S578*	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	564					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTCAAAACCTCAGAAAGCATC	0.403			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													dbGAP	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													136.0	135.0	135.0					15																	40494852		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1691C>G	15.37:g.40494852C>G	ENSP00000287598:p.Ser564*		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Nonsense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I	p.S578*	ENST00000287598.6	37	c.1733	CCDS10053.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.445785	0.97572	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	.	.	.	4.98	4.07	0.47477	.	0.203544	0.34291	N	0.004091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-2.1223	11.6264	0.51147	0.0:0.9155:0.0:0.0845	.	.	.	.	X	564;578;515	.	ENSP00000287598:S564X	S	+	2	0	BUB1B	38282144	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	2.032000	0.41127	1.218000	0.43458	-0.262000	0.10625	TCA	BUB1B	-	NULL	ENSG00000156970		0.403	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	HGNC	protein_coding	OTTHUMT00000252122.4	58	0.00	0	C			40494852	40494852	+1	no_errors	ENST00000412359	ensembl	human	known	69_37n	nonsense	58	35.56	32	SNP	1.000	G
BYSL	705	genome.wustl.edu	37	6	41895231	41895231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:41895231G>T	ENST00000230340.4	+	2	763	c.388G>T	c.(388-390)Gag>Tag	p.E130*		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	130					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCTGAGGATGAGCGTGCCAT	0.542																																						dbGAP											0													145.0	126.0	132.0					6																	41895231		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.388G>T	6.37:g.41895231G>T	ENSP00000230340:p.Glu130*		Q6P5W4|Q86W44|Q96IP8	Nonsense_Mutation	SNP	pfam_Bystin	p.E130*	ENST00000230340.4	37	c.388	CCDS34450.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.882838	0.97062	.	.	ENSG00000112578	ENST00000230340	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.8168	17.8874	0.88861	0.0:0.0:1.0:0.0	.	.	.	.	X	130	.	ENSP00000230340:E130X	E	+	1	0	BYSL	42003209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.167000	0.94773	2.514000	0.84764	0.643000	0.83706	GAG	BYSL	-	NULL	ENSG00000112578		0.542	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BYSL	HGNC	protein_coding	OTTHUMT00000040535.2	59	0.00	0	G			41895231	41895231	+1	no_errors	ENST00000230340	ensembl	human	known	69_37n	nonsense	27	46.00	23	SNP	1.000	T
C10orf11	83938	genome.wustl.edu	37	10	77807039	77807039	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:77807039G>C	ENST00000372499.1	+	3	507	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	98	LRRCT.				melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GGAAAAGGATGAGGAAGACTA	0.517																																						dbGAP											0													87.0	80.0	82.0					10																	77807039		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.292G>C	10.37:g.77807039G>C	ENSP00000361577:p.Glu98Gln		B1AVW6	Missense_Mutation	SNP	NULL	p.E126Q	ENST00000372499.1	37	c.376	CCDS7351.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.330245	0.95733	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.31769	1.48	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	M	0.85542	2.76	0.54753	D	0.999987	D	0.54772	0.968	P	0.61201	0.885	T	0.61959	-0.6955	10	0.56958	D	0.05	-19.0493	20.6593	0.99626	0.0:0.0:1.0:0.0	.	98	Q9H2I8	CJ011_HUMAN	Q	126;98	ENSP00000361577:E98Q	ENSP00000346310:E126Q	E	+	1	0	C10orf11	77477045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG	C10orf11	-	NULL	ENSG00000148655		0.517	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf11	HGNC	protein_coding	OTTHUMT00000048839.1	39	0.00	0	G	NM_032024		77807039	77807039	+1	no_errors	ENST00000354343	ensembl	human	known	69_37n	missense	30	38.78	19	SNP	1.000	C
C10orf12	26148	genome.wustl.edu	37	10	98744424	98744424	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:98744424G>A	ENST00000286067.2	+	1	3384	c.3277G>A	c.(3277-3279)Gaa>Aaa	p.E1093K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1093										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAAGAGAACAGAAGGCAGCAG	0.498																																						dbGAP											0													62.0	63.0	63.0					10																	98744424		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3277G>A	10.37:g.98744424G>A	ENSP00000286067:p.Glu1093Lys		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.E1093K	ENST00000286067.2	37	c.3277	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912583	0.52439	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.08282	3.11	5.37	5.37	0.77165	.	0.394151	0.19962	U	0.102182	T	0.12817	0.0311	L	0.34521	1.04	0.46609	D	0.99912	P	0.50272	0.933	P	0.47044	0.535	T	0.01706	-1.1291	10	0.59425	D	0.04	-12.9957	19.1096	0.93312	0.0:0.0:1.0:0.0	.	1093	Q8N655	CJ012_HUMAN	K	1093;927	ENSP00000286067:E1093K	ENSP00000286067:E1093K	E	+	1	0	C10orf12	98734414	1.000000	0.71417	0.973000	0.42090	0.562000	0.35680	4.766000	0.62279	2.539000	0.85634	0.561000	0.74099	GAA	C10orf12	-	NULL	ENSG00000155640		0.498	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	45	0.00	0	G	NM_015652		98744424	98744424	+1	no_errors	ENST00000286067	ensembl	human	known	69_37n	missense	24	41.46	17	SNP	0.969	A
C10orf120	399814	genome.wustl.edu	37	10	124459159	124459159	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:124459159C>G	ENST00000329446.4	-	1	179	c.148G>C	c.(148-150)Gag>Cag	p.E50Q		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	50										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTCAGATCCTCTTGGCAACAC	0.473																																						dbGAP											0													112.0	97.0	102.0					10																	124459159		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.148G>C	10.37:g.124459159C>G	ENSP00000331012:p.Glu50Gln		B2RU17	Missense_Mutation	SNP	NULL	p.E50Q	ENST00000329446.4	37	c.148	CCDS31302.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.435|9.435	1.086468|1.086468	0.20390|0.20390	.|.	.|.	ENSG00000183559|ENSG00000183559	ENST00000329446|ENST00000432000	T|.	0.35789|.	1.29|.	4.29|4.29	0.279|0.279	0.15677|0.15677	.|.	0.755500|.	0.11357|.	N|.	0.572347|.	T|T	0.19765|0.19765	0.0475|0.0475	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	P|.	0.43701|.	0.815|.	P|.	0.45681|.	0.49|.	T|T	0.24476|0.24476	-1.0159|-1.0159	10|5	0.23891|.	T|.	0.37|.	-5.5427|-5.5427	3.9345|3.9345	0.09299|0.09299	0.0:0.4898:0.1955:0.3148|0.0:0.4898:0.1955:0.3148	.|.	50|.	Q5SQS8|.	CJ120_HUMAN|.	Q|N	50|42	ENSP00000331012:E50Q|.	ENSP00000331012:E50Q|.	E|K	-|-	1|3	0|2	C10orf120|C10orf120	124449149|124449149	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.672000|0.672000	0.25187|0.25187	-0.047000|-0.047000	0.13423|0.13423	-0.136000|-0.136000	0.14681|0.14681	GAG|AAG	C10orf120	-	NULL	ENSG00000183559		0.473	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	HGNC	protein_coding	OTTHUMT00000050803.1	104	0.00	0	C	NM_001010912		124459159	124459159	-1	no_errors	ENST00000329446	ensembl	human	known	69_37n	missense	34	56.96	45	SNP	0.000	G
C11orf49	79096	genome.wustl.edu	37	11	47183172	47183172	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:47183172G>A	ENST00000278460.7	+	9	1038	c.979G>A	c.(979-981)Gac>Aac	p.D327N	C11orf49_ENST00000378615.3_Missense_Mutation_p.D333N|C11orf49_ENST00000378618.2_Intron|C11orf49_ENST00000395460.2_3'UTR|C11orf49_ENST00000543718.1_Missense_Mutation_p.D243N|C11orf49_ENST00000536126.1_Missense_Mutation_p.D230N	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	327						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TGAAGAGACAGACGAGTCGGA	0.627											OREG0020950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													45.0	45.0	45.0					11																	47183172		2201	4299	6500	-	-	-	SO:0001583	missense	0			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.979G>A	11.37:g.47183172G>A	ENSP00000278460:p.Asp327Asn	944	D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Missense_Mutation	SNP	NULL	p.D333N	ENST00000278460.7	37	c.997	CCDS7925.1	11	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579732	0.65992	.	.	ENSG00000149179	ENST00000536126;ENST00000278460;ENST00000378615;ENST00000543718	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.24	5.24	0.73138	.	0.043187	0.85682	D	0.000000	T	0.38401	0.1039	L	0.59436	1.845	0.80722	D	1	P;D;P;P	0.59357	0.933;0.985;0.61;0.61	P;P;B;B	0.54270	0.548;0.747;0.424;0.424	T	0.10042	-1.0647	10	0.87932	D	0	-19.8658	19.3787	0.94523	0.0:0.0:1.0:0.0	.	243;243;333;327	F5H6E0;B4DEG1;Q9H6J7-2;Q9H6J7	.;.;.;CK049_HUMAN	N	230;327;333;243	ENSP00000438207:D230N;ENSP00000278460:D327N;ENSP00000367878:D333N;ENSP00000437689:D243N	ENSP00000278460:D327N	D	+	1	0	C11orf49	47139748	1.000000	0.71417	0.953000	0.39169	0.301000	0.27625	8.353000	0.90077	2.884000	0.98904	0.655000	0.94253	GAC	C11orf49	-	NULL	ENSG00000149179		0.627	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	HGNC	protein_coding	OTTHUMT00000391218.1	16	0.00	0	G	NM_024113		47183172	47183172	+1	no_errors	ENST00000378615	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	0.997	A
C11orf80	79703	genome.wustl.edu	37	11	66605863	66605863	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:66605863C>G	ENST00000360962.4	+	15	1701	c.1694C>G	c.(1693-1695)tCa>tGa	p.S565*	C11orf80_ENST00000525449.2_Nonsense_Mutation_p.S373*|C11orf80_ENST00000527634.1_Nonsense_Mutation_p.S348*|C11orf80_ENST00000532565.2_Nonsense_Mutation_p.S347*|C11orf80_ENST00000346672.4_Nonsense_Mutation_p.S374*|C11orf80_ENST00000540737.1_Nonsense_Mutation_p.S399*	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	565										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						AAAAAGGACTCAGCCCAGGGC	0.483																																						dbGAP											0													81.0	79.0	80.0					11																	66605863		1856	4100	5956	-	-	-	SO:0001587	stop_gained	0					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.1694C>G	11.37:g.66605863C>G	ENSP00000354227:p.Ser565*		Q9H677	Nonsense_Mutation	SNP	NULL	p.S565*	ENST00000360962.4	37	c.1694	CCDS53664.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.86|19.86	3.904732|3.904732	0.72868|0.72868	.|.	.|.	ENSG00000173715|ENSG00000173715	ENST00000531415|ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449	.|.	.|.	.|.	3.84|3.84	0.596|0.596	0.17496|0.17496	.|.	.|1.822190	.|0.03124	.|N	.|0.164110	T|.	0.40473|.	0.1118|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39781|.	-0.9597|.	3|.	.|0.72032	.|D	.|0.01	1.1261|1.1261	6.0526|6.0526	0.19794|0.19794	0.0:0.6253:0.0:0.3747|0.0:0.6253:0.0:0.3747	.|.	.|.	.|.	.|.	E|X	119|565;374;348;400;399;374	.|.	.|ENSP00000317408:S374X	Q|S	+|+	1|2	0|0	C11orf80|C11orf80	66362439|66362439	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.469000|0.469000	0.32828|0.32828	-0.548000|-0.548000	0.06048|0.06048	0.136000|0.136000	0.18733|0.18733	0.655000|0.655000	0.94253|0.94253	CAG|TCA	C11orf80	-	NULL	ENSG00000173715		0.483	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	HGNC	protein_coding		70	0.00	0	C	NM_024650		66605863	66605863	+1	no_errors	ENST00000360962	ensembl	human	known	69_37n	nonsense	57	33.72	29	SNP	0.003	G
C12orf45	121053	genome.wustl.edu	37	12	105380159	105380159	+	Missense_Mutation	SNP	G	G	A	rs371639910	byFrequency	TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:105380159G>A	ENST00000552951.1	+	1	72	c.29G>A	c.(28-30)aGc>aAc	p.S10N	C12orf45_ENST00000280749.5_Missense_Mutation_p.S10N	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	10										large_intestine(1)|lung(2)	3						CCCAAGGCTAGCCCGAGTTGT	0.667																																						dbGAP											0													21.0	27.0	25.0					12																	105380159		1963	4158	6121	-	-	-	SO:0001583	missense	0			BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.29G>A	12.37:g.105380159G>A	ENSP00000447057:p.Ser10Asn			Missense_Mutation	SNP	NULL	p.S10N	ENST00000552951.1	37	c.29	CCDS41825.1	12	.	.	.	.	.	.	.	.	.	.	G	2.232	-0.375972	0.05034	.	.	ENSG00000151131	ENST00000552951;ENST00000280749	T;T	0.32272	1.48;1.46	3.55	-1.04	0.10068	.	0.830756	0.10686	N	0.645820	T	0.15998	0.0385	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25047	-1.0143	10	0.28530	T	0.3	-0.2444	3.975	0.09470	0.2598:0.3826:0.3576:0.0	.	10	Q8N5I9	CL045_HUMAN	N	10	ENSP00000447057:S10N;ENSP00000280749:S10N	ENSP00000280749:S10N	S	+	2	0	C12orf45	103904289	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.183000	0.09712	-0.202000	0.10268	0.555000	0.69702	AGC	C12orf45	-	NULL	ENSG00000151131		0.667	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf45	HGNC	protein_coding	OTTHUMT00000406076.1	10	0.00	0	G	NM_152318		105380159	105380159	+1	no_errors	ENST00000552951	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	0.000	A
HEATR4	399671	genome.wustl.edu	37	14	73958722	73958722	+	Intron	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:73958722C>G	ENST00000553558.1	-	17	3166				C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCCCCTAACTCGCAGGGCTTT	0.577																																						dbGAP											0													56.0	60.0	59.0					14																	73958722		2028	4178	6206	-	-	-	SO:0001627	intron_variant	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+1047G>C	14.37:g.73958722C>G			B7Z7V9|E9KL41	RNA	SNP	-	NULL	ENST00000553558.1	37	NULL	CCDS9815.2	14																																																																																			C14orf169	-	-	ENSG00000255242		0.577	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf169	HGNC	protein_coding	OTTHUMT00000414422.2	25	0.00	0	C	NM_203309		73958722	73958722	+1	no_errors	ENST00000531973	ensembl	human	known	69_37n	rna	13	40.91	9	SNP	1.000	G
NRDE2	55051	genome.wustl.edu	37	14	90759091	90759091	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:90759091C>G	ENST00000354366.3	-	9	2024	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	NRDE2_ENST00000357904.3_Missense_Mutation_p.D367H	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	598																	TTGGTCTTATCAGGGCGCCAG	0.597																																						dbGAP											0													130.0	132.0	131.0					14																	90759091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1792G>C	14.37:g.90759091C>G	ENSP00000346335:p.Asp598His		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.D598H	ENST00000354366.3	37	c.1792	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922661	0.92319	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.34667	1.74;1.35	5.35	5.35	0.76521	.	0.059191	0.64402	D	0.000005	T	0.63792	0.2541	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66705	-0.5856	10	0.59425	D	0.04	-15.0729	19.0802	0.93178	0.0:1.0:0.0:0.0	.	598	Q9H7Z3	CN102_HUMAN	H	598;367;177	ENSP00000346335:D598H;ENSP00000350579:D367H	ENSP00000346335:D598H	D	-	1	0	C14orf102	89828844	1.000000	0.71417	0.970000	0.41538	0.892000	0.51952	7.322000	0.79097	2.493000	0.84123	0.655000	0.94253	GAT	C14orf102	-	NULL	ENSG00000119720		0.597	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf102	HGNC	protein_coding	OTTHUMT00000411264.1	29	0.00	0	C	NM_017970		90759091	90759091	-1	no_errors	ENST00000354366	ensembl	human	known	69_37n	missense	50	39.76	33	SNP	1.000	G
C16orf91	283951	genome.wustl.edu	37	16	1476224	1476224	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:1476224C>G	ENST00000310355.1	-	3	398	c.399G>C	c.(397-399)agG>agC	p.R133S				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TCAGCCTCATCCTGGTGTGCA	0.612																																						dbGAP											0													99.0	103.0	101.0					16																	1476224		2199	4300	6499	-	-	-	SO:0001583	missense	0			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.399G>C	16.37:g.1476224C>G	ENSP00000311390:p.Arg133Ser		Q96RZ0	Missense_Mutation	SNP	prints_CCSMST1	p.R133S	ENST00000310355.1	37	c.399	CCDS32360.1	16	.	.	.	.	.	.	.	.	.	.	C	1.499	-0.552650	0.03996	.	.	ENSG00000174109	ENST00000310355	.	.	.	1.71	0.674	0.17946	.	.	.	.	.	T	0.36276	0.0961	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37056	-0.9722	5	0.87932	D	0	.	3.681	0.08310	0.0:0.7326:0.0:0.2674	.	.	.	.	S	133	.	ENSP00000311390:R133S	R	-	3	2	C16orf91	1416225	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.310000	0.08135	0.253000	0.21552	0.655000	0.94253	AGG	C16orf91	-	NULL	ENSG00000174109		0.612	C16orf91-201	KNOWN	basic|CCDS	protein_coding	C16orf91	HGNC	protein_coding		28	0.00	0	C	NM_001010878		1476224	1476224	-1	no_errors	ENST00000310355	ensembl	human	known	69_37n	missense	34	35.85	19	SNP	0.002	G
C1orf177	163747	genome.wustl.edu	37	1	55279532	55279532	+	Missense_Mutation	SNP	G	G	C	rs549458732		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:55279532G>C	ENST00000371273.3	+	7	823	c.808G>C	c.(808-810)Gaa>Caa	p.E270Q	C1orf177_ENST00000358193.3_Missense_Mutation_p.E270Q	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	270										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CTTTGTAGAAGAACTTAACTC	0.413																																						dbGAP											0													86.0	94.0	92.0					1																	55279532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.808G>C	1.37:g.55279532G>C	ENSP00000360320:p.Glu270Gln		B7WPL2|Q8N7Y9	Missense_Mutation	SNP	NULL	p.E270Q	ENST00000371273.3	37	c.808	CCDS44153.1	1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484181	0.44147	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.24151	1.87;1.87	4.85	4.85	0.62838	.	0.343513	0.27577	N	0.018745	T	0.43634	0.1256	M	0.66939	2.045	0.23238	N	0.998063	D;D	0.61080	0.989;0.989	P;P	0.58928	0.848;0.848	T	0.29518	-1.0009	10	0.54805	T	0.06	.	13.3301	0.60480	0.0:0.0:1.0:0.0	.	270;270	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	Q	270	ENSP00000350924:E270Q;ENSP00000360320:E270Q	ENSP00000350924:E270Q	E	+	1	0	C1orf177	55052120	1.000000	0.71417	0.350000	0.25708	0.326000	0.28443	4.984000	0.63838	2.519000	0.84933	0.462000	0.41574	GAA	C1orf177	-	NULL	ENSG00000162398		0.413	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf177	HGNC	protein_coding	OTTHUMT00000027674.1	83	0.00	0	G	NM_152607		55279532	55279532	+1	no_errors	ENST00000371273	ensembl	human	known	69_37n	missense	50	47.92	46	SNP	0.288	C
C1orf168	199920	genome.wustl.edu	37	1	57209850	57209850	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:57209850C>G	ENST00000343433.6	-	10	1557	c.1477G>C	c.(1477-1479)Gat>Cat	p.D493H	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	493										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TACTCGACATCATCATATATC	0.408																																						dbGAP											0													164.0	160.0	161.0					1																	57209850		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1477G>C	1.37:g.57209850C>G	ENSP00000345972:p.Asp493His		Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.D493H	ENST00000343433.6	37	c.1477	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850259	0.51270	.	.	ENSG00000187889	ENST00000343433	T	0.42900	0.96	4.29	4.29	0.51040	.	0.100168	0.43110	D	0.000614	T	0.50939	0.1645	L	0.32530	0.975	0.34660	D	0.722607	D	0.89917	1.0	D	0.74348	0.983	T	0.62015	-0.6943	10	0.66056	D	0.02	-15.3789	12.5474	0.56208	0.0:1.0:0.0:0.0	.	493	Q5VWT5	CA168_HUMAN	H	493	ENSP00000345972:D493H	ENSP00000345972:D493H	D	-	1	0	C1orf168	56982438	0.999000	0.42202	1.000000	0.80357	0.518000	0.34316	1.713000	0.37951	2.667000	0.90743	0.563000	0.77884	GAT	C1orf168	-	NULL	ENSG00000187889		0.408	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	160	0.00	0	C	NM_001004303		57209850	57209850	-1	no_errors	ENST00000343433	ensembl	human	known	69_37n	missense	77	35.29	42	SNP	1.000	G
C2orf61	285051	genome.wustl.edu	37	2	47380124	47380124	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:47380124C>G	ENST00000445927.2	-	2	239	c.113G>C	c.(112-114)aGa>aCa	p.R38T	RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000294947.2_Missense_Mutation_p.R38T	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	38								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCATCCTTCTCTTTCAAAAGA	0.299																																						dbGAP											2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											99.0	101.0	100.0					2																	47380124		2203	4296	6499	-	-	-	SO:0001583	missense	0			AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.113G>C	2.37:g.47380124C>G	ENSP00000408527:p.Arg38Thr		H7C2Z2	Missense_Mutation	SNP	NULL	p.R38T	ENST00000445927.2	37	c.113	CCDS54356.1	2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101422	0.76983	.	.	ENSG00000239605	ENST00000445927;ENST00000294947	T;T	0.50277	0.75;0.78	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000013	T	0.69269	0.3092	M	0.73962	2.25	0.36688	D	0.879417	D	0.76494	0.999	D	0.83275	0.996	T	0.75408	-0.3328	10	0.72032	D	0.01	-25.1735	15.9136	0.79491	0.0:1.0:0.0:0.0	.	38	Q8N801	CB061_HUMAN	T	38	ENSP00000408527:R38T;ENSP00000294947:R38T	ENSP00000294947:R38T	R	-	2	0	C2orf61	47233628	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.498000	0.53302	2.835000	0.97688	0.591000	0.81541	AGA	C2orf61	-	NULL	ENSG00000239605		0.299	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf61	HGNC	protein_coding		141	0.00	0	C	NM_173649		47380124	47380124	-1	no_errors	ENST00000445927	ensembl	human	known	69_37n	missense	71	45.80	60	SNP	1.000	G
C2orf78	388960	genome.wustl.edu	37	2	74043308	74043308	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:74043308C>G	ENST00000409561.1	+	3	2079	c.1958C>G	c.(1957-1959)tCc>tGc	p.S653C		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	653										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TTCTCTTCCTCCAGGACCCTG	0.512																																						dbGAP											0													46.0	48.0	47.0					2																	74043308		1864	4102	5966	-	-	-	SO:0001583	missense	0			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1958C>G	2.37:g.74043308C>G	ENSP00000387124:p.Ser653Cys			Missense_Mutation	SNP	NULL	p.S653C	ENST00000409561.1	37	c.1958	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	C	9.974	1.226328	0.22542	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.48522	0.81	4.9	3.06	0.35304	.	0.872633	0.09695	N	0.767776	T	0.65091	0.2658	M	0.72894	2.215	0.21290	N	0.99973	D	0.89917	1.0	D	0.74674	0.984	T	0.48703	-0.9012	10	0.52906	T	0.07	-3.4797	8.5969	0.33721	0.1723:0.6615:0.1662:0.0	.	653	A6NCI8	CB078_HUMAN	C	653;623	ENSP00000387124:S653C	ENSP00000340692:S623C	S	+	2	0	C2orf78	73896816	0.001000	0.12720	0.104000	0.21259	0.016000	0.09150	0.382000	0.20635	0.565000	0.29255	0.563000	0.77884	TCC	C2orf78	-	NULL	ENSG00000187833		0.512	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	28	0.00	0	C	NM_001080474		74043308	74043308	+1	no_errors	ENST00000409561	ensembl	human	novel	69_37n	missense	16	42.86	12	SNP	0.401	G
C3orf20	84077	genome.wustl.edu	37	3	14769960	14769960	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:14769960G>A	ENST00000253697.3	+	12	2157	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	C3orf20_ENST00000435614.1_Missense_Mutation_p.E447K|C3orf20_ENST00000412910.1_Missense_Mutation_p.E447K	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	569						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTTTACCATTGAATATCCCAC	0.478																																						dbGAP											0													73.0	75.0	74.0					3																	14769960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1705G>A	3.37:g.14769960G>A	ENSP00000253697:p.Glu569Lys		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.E569K	ENST00000253697.3	37	c.1705	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242425	0.22796	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08984	3.32;3.03;3.03	3.3	-0.524	0.11920	.	0.570782	0.15824	N	0.242834	T	0.06917	0.0176	L	0.41027	1.25	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.23419	0.046;0.046	T	0.31223	-0.9951	10	0.46703	T	0.11	-1.2958	6.1495	0.20304	0.4884:0.0:0.5116:0.0	.	447;569	Q8ND61-2;Q8ND61	.;CC020_HUMAN	K	569;447;447	ENSP00000253697:E569K;ENSP00000402933:E447K;ENSP00000396081:E447K	ENSP00000253697:E569K	E	+	1	0	C3orf20	14744964	0.067000	0.21026	0.004000	0.12327	0.115000	0.19883	-0.077000	0.11394	-0.134000	0.11516	0.460000	0.39030	GAA	C3orf20	-	NULL	ENSG00000131379		0.478	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	44	0.00	0	G	NM_032137		14769960	14769960	+1	no_errors	ENST00000253697	ensembl	human	known	69_37n	missense	36	42.86	27	SNP	0.006	A
HMCES	56941	genome.wustl.edu	37	3	129007712	129007712	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:129007712G>C	ENST00000383463.4	+	3	288	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	HMCES_ENST00000389735.3_Missense_Mutation_p.E67Q|HMCES_ENST00000417226.2_Missense_Mutation_p.E67Q|HMCES_ENST00000502878.2_Missense_Mutation_p.E67Q	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	67							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										AGACTCATCTGAGCGTATCAT	0.418																																						dbGAP											0													115.0	102.0	106.0					3																	129007712		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.199G>C	3.37:g.129007712G>C	ENSP00000372955:p.Glu67Gln		A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	pfam_DUF159	p.E67Q	ENST00000383463.4	37	c.199	CCDS33852.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980201	0.74474	.	.	ENSG00000183624	ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735;ENST00000509551	.	.	.	5.12	4.25	0.50352	.	0.099974	0.64402	D	0.000002	T	0.66944	0.2841	L	0.52573	1.65	0.52099	D	0.999949	D;D	0.67145	0.996;0.989	D;P	0.65773	0.938;0.875	T	0.66917	-0.5802	9	0.49607	T	0.09	-17.161	11.402	0.49875	0.0889:0.0:0.9111:0.0	.	67;67	E7EMP6;Q96FZ2	.;CC037_HUMAN	Q	67	.	ENSP00000372955:E67Q	E	+	1	0	C3orf37	130490402	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	6.718000	0.74713	1.163000	0.42636	0.591000	0.81541	GAG	C3orf37	-	pfam_DUF159	ENSG00000183624		0.418	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf37	HGNC	protein_coding	OTTHUMT00000355470.2	39	0.00	0	G	NM_020187		129007712	129007712	+1	no_errors	ENST00000383463	ensembl	human	known	69_37n	missense	34	45.16	28	SNP	1.000	C
C4orf17	84103	genome.wustl.edu	37	4	100434338	100434338	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:100434338C>G	ENST00000326581.4	+	2	462	c.100C>G	c.(100-102)Cat>Gat	p.H34D	C4orf17_ENST00000514652.1_Missense_Mutation_p.H34D	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	34										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GCACACCCCTCATCCCAGAAG	0.468																																						dbGAP											0													114.0	100.0	105.0					4																	100434338		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.100C>G	4.37:g.100434338C>G	ENSP00000322582:p.His34Asp		Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	NULL	p.H34D	ENST00000326581.4	37	c.100	CCDS3649.1	4	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610888	0.66558	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.25912	1.77;1.77	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000012	T	0.51210	0.1661	M	0.77313	2.365	0.30730	N	0.74728	D	0.89917	1.0	D	0.87578	0.998	T	0.57429	-0.7813	10	0.72032	D	0.01	-12.875	13.3896	0.60816	0.0:1.0:0.0:0.0	.	34	Q53FE4	CD017_HUMAN	D	34	ENSP00000322582:H34D;ENSP00000427663:H34D	ENSP00000322582:H34D	H	+	1	0	C4orf17	100653361	1.000000	0.71417	0.997000	0.53966	0.898000	0.52572	3.403000	0.52615	2.518000	0.84900	0.650000	0.86243	CAT	C4orf17	-	NULL	ENSG00000138813		0.468	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf17	HGNC	protein_coding	OTTHUMT00000253670.2	47	0.00	0	C	NM_032149		100434338	100434338	+1	no_errors	ENST00000326581	ensembl	human	known	69_37n	missense	16	65.96	31	SNP	1.000	G
TBC1D32	221322	genome.wustl.edu	37	6	121544395	121544395	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:121544395G>A	ENST00000398212.2	-	21	2517	c.2468C>T	c.(2467-2469)cCa>cTa	p.P823L	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Missense_Mutation_p.P823L	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	823					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AACACATGTTGGGACTTCACG	0.308																																						dbGAP											0													94.0	88.0	90.0					6																	121544395		1806	4078	5884	-	-	-	SO:0001583	missense	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2468C>T	6.37:g.121544395G>A	ENSP00000381270:p.Pro823Leu		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.P823L	ENST00000398212.2	37	c.2468	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162980	0.78226	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.18657	2.2;2.2	5.64	5.64	0.86602	.	0.049136	0.85682	D	0.000000	T	0.41419	0.1158	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	T	0.24835	-1.0149	10	0.87932	D	0	.	16.9719	0.86302	0.0:0.0:1.0:0.0	.	823;823	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	L	823	ENSP00000275159:P823L;ENSP00000381270:P823L	ENSP00000275159:P823L	P	-	2	0	C6orf170	121586094	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	5.662000	0.68032	2.817000	0.96982	0.655000	0.94253	CCA	C6orf170	-	NULL	ENSG00000146350		0.308	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C6orf170	HGNC	protein_coding	OTTHUMT00000380937.2	57	0.00	0	G	NM_152730		121544395	121544395	-1	no_errors	ENST00000275159	ensembl	human	putative	69_37n	missense	45	43.04	34	SNP	1.000	A
CCDC180	100499483	genome.wustl.edu	37	9	100070076	100070076	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:100070076G>C	ENST00000357054.1	+	15	1391	c.456G>C	c.(454-456)caG>caC	p.Q152H	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.Q13H|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.Q13H|CCDC180_ENST00000395220.1_Missense_Mutation_p.Q152H|CCDC180_ENST00000411667.2_Missense_Mutation_p.Q13H			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	152						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTCGAGTTCAGAGCTCATCTG	0.552																																						dbGAP											0													106.0	105.0	105.0					9																	100070076		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.456G>C	9.37:g.100070076G>C	ENSP00000349562:p.Gln152His		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.Q13H	ENST00000357054.1	37	c.39		9	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481266	0.26598	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.18810	3.08;2.19;3.07;2.7;3.07	3.52	0.536	0.17138	.	10.718900	0.00166	N	0.000001	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B;B;B;B	0.24963	0.115;0.115;0.115;0.115	B;B;B;B	0.32624	0.124;0.149;0.124;0.124	T	0.27400	-1.0075	10	0.48119	T	0.1	12.423	4.128	0.10136	0.2259:0.1922:0.5819:0.0	.	13;152;13;152	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	H	152;152;13;13;36;13	ENSP00000349562:Q152H;ENSP00000378646:Q152H;ENSP00000364348:Q13H;ENSP00000414000:Q13H;ENSP00000434727:Q13H	ENSP00000349562:Q152H	Q	+	3	2	C9orf174	99109897	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.400000	0.07241	0.120000	0.18254	0.561000	0.74099	CAG	C9orf174	-	NULL	ENSG00000197816		0.552	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		60	0.00	0	G	NM_020893		100070076	100070076	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	0.000	C
CA11	770	genome.wustl.edu	37	19	49142595	49142595	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:49142595G>C	ENST00000084798.4	-	7	1441	c.762C>G	c.(760-762)ctC>ctG	p.L254L	DBP_ENST00000222122.5_5'Flank|DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	254						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	CCCGGTCAATGAGGATCCAGG	0.612																																						dbGAP											0													79.0	73.0	75.0					19																	49142595		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.762C>G	19.37:g.49142595G>C			O60596|Q6FHI1|Q9UEC4	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.L254	ENST00000084798.4	37	c.762	CCDS12729.1	19																																																																																			CA11	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000063180		0.612	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA11	HGNC	protein_coding	OTTHUMT00000466172.1	59	0.00	0	G	NM_001217		49142595	49142595	-1	no_errors	ENST00000084798	ensembl	human	known	69_37n	silent	20	35.48	11	SNP	1.000	C
CA11	770	genome.wustl.edu	37	19	49143464	49143464	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:49143464G>C	ENST00000084798.4	-	4	1038	c.359C>G	c.(358-360)tCt>tGt	p.S120C	DBP_ENST00000222122.5_5'Flank|DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	120						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GGGACCTCCAGACACATTGAC	0.627																																						dbGAP											0													80.0	76.0	77.0					19																	49143464		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.359C>G	19.37:g.49143464G>C	ENSP00000084798:p.Ser120Cys		O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.S120C	ENST00000084798.4	37	c.359	CCDS12729.1	19	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367601	0.82463	.	.	ENSG00000063180	ENST00000084798	T	0.69435	-0.4	3.56	3.56	0.40772	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.82056	0.4954	M	0.88906	2.99	0.54753	D	0.999989	D	0.89917	1.0	D	0.74348	0.983	D	0.84974	0.0884	10	0.87932	D	0	.	10.8681	0.46866	0.0:0.0:1.0:0.0	.	120	O75493	CAH11_HUMAN	C	120	ENSP00000084798:S120C	ENSP00000084798:S120C	S	-	2	0	CA11	53835276	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.673000	0.83973	2.019000	0.59389	0.462000	0.41574	TCT	CA11	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000063180		0.627	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA11	HGNC	protein_coding	OTTHUMT00000466172.1	59	0.00	0	G	NM_001217		49143464	49143464	-1	no_errors	ENST00000084798	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	1.000	C
CADM2	253559	genome.wustl.edu	37	3	86010687	86010687	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:86010687G>C	ENST00000407528.2	+	7	895	c.833G>C	c.(832-834)gGt>gCt	p.G278A	CADM2_ENST00000405615.2_Missense_Mutation_p.G280A|CADM2_ENST00000383699.3_Missense_Mutation_p.G287A	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	278	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTTGTGAGTGGTAGGGAGCTA	0.438																																						dbGAP											0													161.0	151.0	154.0					3																	86010687		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.833G>C	3.37:g.86010687G>C	ENSP00000384575:p.Gly278Ala		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.G280A	ENST00000407528.2	37	c.839	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727838	0.89390	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.64991	-0.13;-0.13;-0.13	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.979;0.999;0.999	T	0.80146	-0.1504	10	0.66056	D	0.02	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	280;287;278	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	A	287;278;280	ENSP00000373200:G287A;ENSP00000384575:G278A;ENSP00000384193:G280A	ENSP00000373200:G287A	G	+	2	0	CADM2	86093377	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.388000	0.97237	2.629000	0.89072	0.650000	0.86243	GGT	CADM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000175161		0.438	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	58	0.00	0	G	NM_153184		86010687	86010687	+1	no_errors	ENST00000405615	ensembl	human	known	69_37n	missense	39	37.10	23	SNP	1.000	C
CAP2	10486	genome.wustl.edu	37	6	17463284	17463284	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:17463284C>G	ENST00000229922.2	+	4	812	c.280C>G	c.(280-282)Cag>Gag	p.Q94E	CAP2_ENST00000489374.1_Missense_Mutation_p.Q94E|CAP2_ENST00000465994.1_Missense_Mutation_p.Q94E|CAP2_ENST00000378990.2_Intron|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	94					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GATGGCCTCTCAGTACCAACA	0.517																																						dbGAP											0													84.0	75.0	78.0					6																	17463284		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.280C>G	6.37:g.17463284C>G	ENSP00000229922:p.Gln94Glu		B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.Q94E	ENST00000229922.2	37	c.280	CCDS4539.1	6	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668634	0.47677	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000465994	T;T;T	0.12774	2.65;2.65;2.65	5.52	5.52	0.82312	Adenylate cyclase-associated CAP, N-terminal (2);	0.275476	0.41605	D	0.000856	T	0.12220	0.0297	M	0.72118	2.19	0.26092	N	0.980949	B;B;B	0.23735	0.089;0.09;0.053	B;B;B	0.33846	0.122;0.171;0.119	T	0.11227	-1.0596	10	0.28530	T	0.3	-4.9341	19.4094	0.94662	0.0:1.0:0.0:0.0	.	94;94;94	B7Z385;B7Z1C4;P40123	.;.;CAP2_HUMAN	E	94	ENSP00000229922:Q94E;ENSP00000417705:Q94E;ENSP00000418604:Q94E	ENSP00000229922:Q94E	Q	+	1	0	CAP2	17571263	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.679000	0.54634	2.576000	0.86940	0.591000	0.81541	CAG	CAP2	-	pfam_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_N	ENSG00000112186		0.517	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAP2	HGNC	protein_coding	OTTHUMT00000039952.2	66	0.00	0	C			17463284	17463284	+1	no_errors	ENST00000229922	ensembl	human	known	69_37n	missense	40	41.18	28	SNP	1.000	G
CAPN11	11131	genome.wustl.edu	37	6	44144023	44144023	+	Missense_Mutation	SNP	C	C	G	rs375074381		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:44144023C>G	ENST00000398776.1	+	9	987	c.949C>G	c.(949-951)Cgg>Ggg	p.R317G	CAPN11_ENST00000542245.1_Missense_Mutation_p.R317G	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	317	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AACACTGATTCGGGTCCGGAA	0.587																																						dbGAP											0													74.0	77.0	76.0					6																	44144023		1925	4126	6051	-	-	-	SO:0001583	missense	0			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.949C>G	6.37:g.44144023C>G	ENSP00000381758:p.Arg317Gly		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R317G	ENST00000398776.1	37	c.949	CCDS47436.1	6	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570066	0.86542	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.90504	-2.68;-2.68	3.82	2.92	0.33932	Peptidase C2, calpain, catalytic domain (3);	0.333792	0.21843	N	0.068295	D	0.97031	0.9030	H	0.99820	4.81	0.35410	D	0.792368	D	0.76494	0.999	D	0.68943	0.961	D	0.97526	1.0076	10	0.87932	D	0	.	12.4834	0.55856	0.1689:0.8311:0.0:0.0	.	317	Q9UMQ6	CAN11_HUMAN	G	317	ENSP00000381758:R317G;ENSP00000441078:R317G	ENSP00000381758:R317G	R	+	1	2	CAPN11	44252001	1.000000	0.71417	0.040000	0.18447	0.992000	0.81027	2.421000	0.44688	1.151000	0.42436	0.561000	0.74099	CGG	CAPN11	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000137225		0.587	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	HGNC	protein_coding	OTTHUMT00000040714.3	137	0.00	0	C			44144023	44144023	+1	no_errors	ENST00000398776	ensembl	human	known	69_37n	missense	36	34.55	19	SNP	0.996	G
CARD11	84433	genome.wustl.edu	37	7	2954874	2954874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:2954874C>A	ENST00000396946.4	-	21	3239	c.2836G>T	c.(2836-2838)Gaa>Taa	p.E946*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	946					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CATGTACCTTCCTGCTTCTCA	0.642			Mis		DLBCL																																	dbGAP		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													108.0	100.0	103.0					7																	2954874		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2836G>T	7.37:g.2954874C>A	ENSP00000380150:p.Glu946*		A4D1Z7|Q2NKN7|Q548H3	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.E946*	ENST00000396946.4	37	c.2836	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	44	10.792654	0.99468	.	.	ENSG00000198286	ENST00000396946	.	.	.	4.54	4.54	0.55810	.	0.382752	0.26460	N	0.024257	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	14.4591	0.67438	0.0:1.0:0.0:0.0	.	.	.	.	X	946	.	ENSP00000380150:E946X	E	-	1	0	CARD11	2921400	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.842000	0.62831	2.067000	0.61834	0.407000	0.27541	GAA	CARD11	-	NULL	ENSG00000198286		0.642	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	40	0.00	0	C	NM_032415		2954874	2954874	-1	no_errors	ENST00000396946	ensembl	human	known	69_37n	nonsense	17	34.62	9	SNP	1.000	A
CARS2	79587	genome.wustl.edu	37	13	111298422	111298422	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr13:111298422C>G	ENST00000257347.4	-	12	1272	c.1209G>C	c.(1207-1209)aaG>aaC	p.K403N	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	403					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TCACGGCCCTCTTGGTGCTGG	0.627																																						dbGAP											0													99.0	95.0	96.0					13																	111298422		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1209G>C	13.37:g.111298422C>G	ENSP00000257347:p.Lys403Asn		Q8NI84|Q96IV4	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt	p.K403N	ENST00000257347.4	37	c.1209	CCDS9514.1	13	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433550	0.25813	.	.	ENSG00000134905	ENST00000542993;ENST00000257347	T	0.44482	0.92	4.8	2.72	0.32119	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.267525	0.41194	D	0.000930	T	0.50446	0.1616	M	0.71036	2.16	0.09310	N	1	P	0.45011	0.848	P	0.53549	0.729	T	0.39418	-0.9615	10	0.62326	D	0.03	-6.4315	6.1872	0.20503	0.0:0.5672:0.0:0.4328	.	403	Q9HA77	SYCM_HUMAN	N	141;403	ENSP00000257347:K403N	ENSP00000257347:K403N	K	-	3	2	CARS2	110096423	0.875000	0.30112	0.002000	0.10522	0.030000	0.12068	1.275000	0.33144	1.010000	0.39314	0.462000	0.41574	AAG	CARS2	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-synt	ENSG00000134905		0.627	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARS2	HGNC	protein_coding	OTTHUMT00000045772.3	41	0.00	0	C	NM_024537		111298422	111298422	-1	no_errors	ENST00000257347	ensembl	human	known	69_37n	missense	4	75.00	12	SNP	0.020	G
CASP5	838	genome.wustl.edu	37	11	104877890	104877890	+	Missense_Mutation	SNP	G	G	C	rs572097980	byFrequency	TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:104877890G>C	ENST00000260315.3	-	3	352	c.353C>G	c.(352-354)tCt>tGt	p.S118C	CASP5_ENST00000393139.2_Missense_Mutation_p.S85C|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Missense_Mutation_p.S131C|CASP5_ENST00000526056.1_Missense_Mutation_p.S131C|CASP5_ENST00000444749.2_Missense_Mutation_p.S60C|CASP5_ENST00000531367.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	118	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.S102F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTTTCGCAAAGAGTCTACCAA	0.378													G|||	3	0.000599042	0.0	0.0	5008	,	,		19379	0.0		0.0	False		,,,				2504	0.0031					dbGAP											1	Substitution - Missense(1)	NS(1)											174.0	169.0	170.0					11																	104877890		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.353C>G	11.37:g.104877890G>C	ENSP00000260315:p.Ser118Cys		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.S131C	ENST00000260315.3	37	c.392	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081837	0.36758	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000456094	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	4.42	1.36	0.22044	DEATH-like (2);Caspase Recruitment (3);	0.946707	0.08842	N	0.885685	T	0.39655	0.1086	L	0.54323	1.7	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.969;0.983;0.965	T	0.17167	-1.0378	10	0.51188	T	0.08	.	3.4402	0.07461	0.0958:0.1672:0.5645:0.1725	.	60;118;131	P51878-2;P51878;P51878-5	.;CASP5_HUMAN;.	C	131;85;118;60;131;102	ENSP00000376849:S131C;ENSP00000376847:S85C;ENSP00000260315:S118C;ENSP00000388365:S60C;ENSP00000436877:S131C;ENSP00000415241:S102C	ENSP00000260315:S118C	S	-	2	0	CASP5	104383100	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.076000	0.14712	0.183000	0.20059	0.591000	0.81541	TCT	CASP5	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137757		0.378	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	155	0.00	0	G	NM_004347		104877890	104877890	-1	no_errors	ENST00000393141	ensembl	human	known	69_37n	missense	100	45.11	83	SNP	0.000	C
CASP7	840	genome.wustl.edu	37	10	115489239	115489239	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:115489239G>C	ENST00000345633.4	+	8	1236	c.852G>C	c.(850-852)gaG>gaC	p.E284D	CASP7_ENST00000369321.2_Missense_Mutation_p.E317D|CASP7_ENST00000369331.4_3'UTR|CASP7_ENST00000369315.1_Missense_Mutation_p.E284D|CASP7_ENST00000452490.2_Missense_Mutation_p.E259D|CASP7_ENST00000369318.3_Missense_Mutation_p.E284D	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	284					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		ACTTCCATGAGAAGAAGCAGA	0.493																																						dbGAP											0													139.0	128.0	132.0					10																	115489239		2203	4300	6503	-	-	-	SO:0001583	missense	0			U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.852G>C	10.37:g.115489239G>C	ENSP00000298701:p.Glu284Asp		B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.E317D	ENST00000345633.4	37	c.951	CCDS7581.1	10	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190223	0.38707	.	.	ENSG00000165806	ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369315;ENST00000452490	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.85	5.85	0.93711	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.314676	0.38381	N	0.001710	T	0.30198	0.0757	N	0.17248	0.465	0.58432	D	0.999995	B;B;B;B	0.33198	0.124;0.0;0.401;0.124	B;B;B;B	0.30495	0.055;0.001;0.116;0.055	T	0.05869	-1.0859	10	0.19590	T	0.45	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	259;292;317;284	B4DQU7;B4DWA2;P55210-3;P55210	.;.;.;CASP7_HUMAN	D	317;284;284;245;284;259	ENSP00000358327:E317D;ENSP00000298701:E284D;ENSP00000358324:E284D;ENSP00000358321:E284D;ENSP00000398107:E259D	ENSP00000298701:E284D	E	+	3	2	CASP7	115479229	1.000000	0.71417	0.995000	0.50966	0.916000	0.54674	3.935000	0.56560	2.768000	0.95171	0.655000	0.94253	GAG	CASP7	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10	ENSG00000165806		0.493	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP7	HGNC	protein_coding	OTTHUMT00000050439.1	41	0.00	0	G	NM_033338		115489239	115489239	+1	no_errors	ENST00000369321	ensembl	human	known	69_37n	missense	29	34.09	15	SNP	1.000	C
CC2D1B	200014	genome.wustl.edu	37	1	52827250	52827250	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:52827250C>G	ENST00000371586.2	-	4	391	c.253G>C	c.(253-255)Gac>Cac	p.D85H	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.D85H|CC2D1B_ENST00000460261.1_5'Flank	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	85						nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CGCATACAGTCTGCCGCCAAC	0.577																																						dbGAP											0													82.0	69.0	73.0					1																	52827250		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.253G>C	1.37:g.52827250C>G	ENSP00000360642:p.Asp85His		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.D85H	ENST00000371586.2	37	c.253	CCDS30714.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.71|19.71	3.877647|3.877647	0.72294|0.72294	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371575|ENST00000450942	T;T|.	0.76578|.	-1.03;-1.03|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.117957|.	0.56097|.	D|.	0.000028|.	T|T	0.71813|0.71813	0.3384|0.3384	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	P|.	0.52170|.	0.951|.	P|.	0.47206|.	0.541|.	T|T	0.71852|0.71852	-0.4467|-0.4467	10|5	0.56958|.	D|.	0.05|.	-21.8643|-21.8643	13.0112|13.0112	0.58731|0.58731	0.0:0.8378:0.1622:0.0|0.0:0.8378:0.1622:0.0	.|.	85|.	Q5T0F9|.	C2D1B_HUMAN|.	H|H	85|25	ENSP00000360642:D85H;ENSP00000284376:D85H|.	ENSP00000284376:D85H|.	D|Q	-|-	1|3	0|2	CC2D1B|CC2D1B	52599838|52599838	0.848000|0.848000	0.29623|0.29623	0.943000|0.943000	0.38184|0.38184	0.960000|0.960000	0.62799|0.62799	1.554000|1.554000	0.36266|0.36266	2.409000|2.409000	0.81822|0.81822	0.655000|0.655000	0.94253|0.94253	GAC|CAG	CC2D1B	-	NULL	ENSG00000154222		0.577	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	12	0.00	0	C	NM_032449		52827250	52827250	-1	no_errors	ENST00000371586	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	0.956	G
CFAP53	220136	genome.wustl.edu	37	18	47769351	47769351	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr18:47769351C>G	ENST00000398545.4	-	6	1249	c.1132G>C	c.(1132-1134)Gag>Cag	p.E378Q		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AGTCTCAGCTCCTTGTCCTTC	0.413																																						dbGAP											0													259.0	262.0	261.0					18																	47769351		2104	4238	6342	-	-	-	SO:0001583	missense	0																														ENST00000398545.4:c.1132G>C	18.37:g.47769351C>G	ENSP00000381553:p.Glu378Gln			Missense_Mutation	SNP	NULL	p.E378Q	ENST00000398545.4	37	c.1132	CCDS11940.2	18	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.350991	0.01256	.	.	ENSG00000172361	ENST00000398545	T	0.08546	3.08	5.38	-7.36	0.01417	.	0.276928	0.34507	N	0.003905	T	0.05135	0.0137	N	0.20401	0.57	0.09310	N	0.999997	B	0.09022	0.002	B	0.11329	0.006	T	0.21245	-1.0251	10	0.20046	T	0.44	0.0015	20.3207	0.98668	0.0:0.1291:0.8001:0.0708	.	378	Q96M91	CCD11_HUMAN	Q	378	ENSP00000381553:E378Q	ENSP00000381553:E378Q	E	-	1	0	CCDC11	46023349	0.021000	0.18746	0.048000	0.18961	0.337000	0.28794	-0.094000	0.11094	-1.171000	0.02765	0.561000	0.74099	GAG	CCDC11	-	NULL	ENSG00000172361		0.413	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255922.3	77	0.00	0	C			47769351	47769351	-1	no_errors	ENST00000398545	ensembl	human	known	69_37n	missense	46	60.68	71	SNP	0.013	G
CCDC14	64770	genome.wustl.edu	37	3	123634236	123634236	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:123634236G>A	ENST00000488653.2	-	13	2342	c.2252C>T	c.(2251-2253)tCt>tTt	p.S751F	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.S551F|CCDC14_ENST00000310351.4_Missense_Mutation_p.S591F|CCDC14_ENST00000433542.2_Missense_Mutation_p.S710F|CCDC14_ENST00000485727.1_Missense_Mutation_p.S551F			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	751					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TGAAAGGGCAGAAATAATTCC	0.393																																						dbGAP											0													121.0	122.0	122.0					3																	123634236		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2252C>T	3.37:g.123634236G>A	ENSP00000420180:p.Ser751Phe		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.S751F	ENST00000488653.2	37	c.2252		3	.	.	.	.	.	.	.	.	.	.	G	6.460	0.452944	0.12283	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.23	5.23	0.72850	.	0.454035	0.22393	N	0.060643	T	0.42449	0.1203	L	0.43152	1.355	0.09310	N	1	B;B;B	0.31548	0.328;0.328;0.208	B;B;B	0.32465	0.146;0.146;0.059	T	0.46373	-0.9196	10	0.66056	D	0.02	.	13.2929	0.60280	0.0755:0.0:0.9245:0.0	.	751;710;592	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	F	751;591;551;551;710;732	ENSP00000420180:S751F;ENSP00000312031:S591F;ENSP00000418002:S551F;ENSP00000418403:S551F;ENSP00000395706:S710F;ENSP00000386866:S732F	ENSP00000312031:S591F	S	-	2	0	CCDC14	125116926	0.005000	0.15991	0.012000	0.15200	0.007000	0.05969	1.297000	0.33400	2.725000	0.93324	0.591000	0.81541	TCT	CCDC14	-	NULL	ENSG00000175455		0.393	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		78	0.00	0	G	NM_022757		123634236	123634236	-1	no_errors	ENST00000488653	ensembl	human	known	69_37n	missense	60	40.00	40	SNP	0.015	A
CCDC146	57639	genome.wustl.edu	37	7	76891515	76891515	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:76891515G>A	ENST00000285871.4	+	9	1191	c.1064G>A	c.(1063-1065)aGa>aAa	p.R355K	CCDC146_ENST00000431197.1_Missense_Mutation_p.R101K|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	355										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CGTAAGCAAAGAGAGAAAGAA	0.413																																						dbGAP											0													104.0	102.0	103.0					7																	76891515		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1064G>A	7.37:g.76891515G>A	ENSP00000285871:p.Arg355Lys		A8K8X6|Q9P223	Missense_Mutation	SNP	NULL	p.R355K	ENST00000285871.4	37	c.1064	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360416	0.82353	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.42131	0.98;0.98	5.78	5.78	0.91487	.	0.087414	0.85682	D	0.000000	T	0.31638	0.0803	L	0.44542	1.39	0.47737	D	0.999504	P;P	0.42518	0.782;0.453	B;B	0.34652	0.187;0.172	T	0.24512	-1.0158	10	0.02654	T	1	-21.3297	18.7832	0.91942	0.0:0.0:1.0:0.0	.	101;355	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	K	355;101	ENSP00000285871:R355K;ENSP00000413885:R101K	ENSP00000285871:R355K	R	+	2	0	AC007000.1	76729451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.753000	0.47524	2.744000	0.94065	0.563000	0.77884	AGA	CCDC146	-	NULL	ENSG00000135205		0.413	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	58	0.00	0	G	NM_020879		76891515	76891515	+1	no_errors	ENST00000285871	ensembl	human	known	69_37n	missense	29	40.82	20	SNP	1.000	A
CCDC34	91057	genome.wustl.edu	37	11	27363058	27363058	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:27363058C>G	ENST00000328697.6	-	4	1319	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	216										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						gctttttcctccatttcttta	0.259																																						dbGAP											0													101.0	92.0	95.0					11																	27363058		1843	3575	5418	-	-	-	SO:0001583	missense	0			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.646G>C	11.37:g.27363058C>G	ENSP00000330240:p.Glu216Gln		B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	NULL	p.E216Q	ENST00000328697.6	37	c.646	CCDS31448.1	11	.	.	.	.	.	.	.	.	.	.	C	10.19	1.280803	0.23392	.	.	ENSG00000109881	ENST00000328697	T	0.21191	2.02	3.84	2.93	0.34026	.	0.319059	0.26800	N	0.022436	T	0.17066	0.0410	L	0.27053	0.805	0.80722	D	1	P	0.47677	0.899	P	0.48952	0.596	T	0.04413	-1.0953	10	0.20519	T	0.43	-5.0606	7.4782	0.27390	0.0:0.883:0.0:0.117	.	216	Q96HJ3	CCD34_HUMAN	Q	216	ENSP00000330240:E216Q	ENSP00000330240:E216Q	E	-	1	0	CCDC34	27319634	0.999000	0.42202	0.998000	0.56505	0.960000	0.62799	1.529000	0.35996	1.208000	0.43306	0.591000	0.81541	GAG	CCDC34	-	NULL	ENSG00000109881		0.259	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC34	HGNC	protein_coding	OTTHUMT00000388396.2	184	0.00	0	C	NM_030771		27363058	27363058	-1	no_errors	ENST00000328697	ensembl	human	known	69_37n	missense	209	36.28	119	SNP	0.998	G
CCDC39	339829	genome.wustl.edu	37	3	180372690	180372690	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:180372690C>T	ENST00000442201.2	-	7	909	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	CCDC39_ENST00000273654.4_Missense_Mutation_p.E348K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	264					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGATCTTTTCTTTAACCAAA	0.299																																						dbGAP											0													147.0	127.0	133.0					3																	180372690		1794	4070	5864	-	-	-	SO:0001583	missense	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.790G>A	3.37:g.180372690C>T	ENSP00000405708:p.Glu264Lys		B4E2H1	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E264K	ENST00000442201.2	37	c.790	CCDS46964.1	3	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862610	0.71949	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.23348	1.91;1.91	5.5	4.61	0.57282	.	0.050558	0.85682	D	0.000000	T	0.51770	0.1694	M	0.80847	2.515	0.46631	D	0.999139	D	0.89917	1.0	D	0.77557	0.99	T	0.53173	-0.8476	10	0.22109	T	0.4	-20.4543	16.4947	0.84236	0.0:0.8688:0.1312:0.0	.	264	Q9UFE4	CCD39_HUMAN	K	348;264	ENSP00000273654:E348K;ENSP00000405708:E264K	ENSP00000273654:E348K	E	-	1	0	CCDC39	181855384	1.000000	0.71417	0.937000	0.37676	0.454000	0.32378	5.637000	0.67854	1.411000	0.46957	0.563000	0.77884	GAA	CCDC39	-	NULL	ENSG00000145075		0.299	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	190	0.00	0	C	XM_291028		180372690	180372690	-1	no_errors	ENST00000442201	ensembl	human	known	69_37n	missense	225	34.97	121	SNP	1.000	T
CCDC62	84660	genome.wustl.edu	37	12	123285986	123285986	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:123285986C>T	ENST00000253079.6	+	9	1637	c.1293C>T	c.(1291-1293)caC>caT	p.H431H	CCDC62_ENST00000537566.1_Silent_p.H192H|CCDC62_ENST00000392441.4_Silent_p.H431H|CCDC62_ENST00000392440.2_Silent_p.H192H	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	431					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GCAAGATCCACACAAAATCAC	0.428																																						dbGAP											0													82.0	76.0	78.0					12																	123285986		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1293C>T	12.37:g.123285986C>T			A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Silent	SNP	superfamily_Prefoldin	p.H431	ENST00000253079.6	37	c.1293	CCDS9238.1	12																																																																																			CCDC62	-	NULL	ENSG00000130783		0.428	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1	57	0.00	0	C	NM_032573		123285986	123285986	+1	no_errors	ENST00000253079	ensembl	human	known	69_37n	silent	38	42.65	29	SNP	0.000	T
CCND3	896	genome.wustl.edu	37	6	41903792	41903792	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:41903792G>A	ENST00000372991.4	-	5	963	c.765C>T	c.(763-765)ctC>ctT	p.L255L	CCND3_ENST00000511642.1_Silent_p.L174L|CCND3_ENST00000511686.1_5'UTR|CCND3_ENST00000415497.2_Silent_p.L59L|CCND3_ENST00000414200.2_Silent_p.L183L|CCND3_ENST00000372987.4_Silent_p.L205L|CCND3_ENST00000372988.4_Silent_p.L174L|CCND3_ENST00000510503.1_Nonsense_Mutation_p.Q129*	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	255					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGCTTCCCTGAGGCTCTCCC	0.637			T	IGH@	MM																																	dbGAP		Dom	yes		6	6p21	896	cyclin D3		L	0													45.0	50.0	48.0					6																	41903792		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.765C>T	6.37:g.41903792G>A			B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Nonsense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like	p.Q129*	ENST00000372991.4	37	c.385	CCDS4863.1	6	.	.	.	.	.	.	.	.	.	.	g	29.8	5.032838	0.93575	.	.	ENSG00000112576	ENST00000510503	.	.	.	5.47	2.53	0.30540	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.7182	0.69286	0.0:0.6428:0.3572:0.0	.	.	.	.	X	129	.	ENSP00000425986:Q129X	Q	-	1	0	CCND3	42011770	0.997000	0.39634	1.000000	0.80357	0.939000	0.58152	0.651000	0.24873	0.638000	0.30545	0.467000	0.42956	CAG	CCND3	-	NULL	ENSG00000112576		0.637	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND3	HGNC	protein_coding	OTTHUMT00000040540.2	64	0.00	0	G	NM_001760		41903792	41903792	-1	no_errors	ENST00000510503	ensembl	human	putative	69_37n	nonsense	14	39.13	9	SNP	0.996	A
CD22	933	genome.wustl.edu	37	19	35826997	35826997	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:35826997C>T	ENST00000085219.5	+	4	537	c.471C>T	c.(469-471)gtC>gtT	p.V157V	CD22_ENST00000270311.6_Silent_p.V37V|CD22_ENST00000419549.2_Intron|CD22_ENST00000594250.1_Silent_p.V157V|CD22_ENST00000544992.2_Silent_p.V157V|CD22_ENST00000536635.2_Silent_p.V157V|CD22_ENST00000341773.6_Silent_p.V157V	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	157	Ig-like C2-type 1.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCAGGAAGTCACTCTGACCT	0.542																																					Ovarian(42;1009 1133 23674 26041)	dbGAP											0													101.0	109.0	106.0					19																	35826997		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.471C>T	19.37:g.35826997C>T			F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V157	ENST00000085219.5	37	c.471	CCDS12457.1	19																																																																																			CD22	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000012124		0.542	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	72	0.00	0	C	NM_001771		35826997	35826997	+1	no_errors	ENST00000085219	ensembl	human	known	69_37n	silent	23	28.12	9	SNP	0.101	T
CD40	958	genome.wustl.edu	37	20	44751308	44751308	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:44751308G>A	ENST00000372285.3	+	4	388	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	CD40_ENST00000372276.3_Missense_Mutation_p.E106K|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	106					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				CTGCACCTGTGAAGAAGGCTG	0.587									Immune Deficiency with Hyper-IgM																													dbGAP											0													120.0	106.0	111.0					20																	44751308		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.316G>A	20.37:g.44751308G>A	ENSP00000361359:p.Glu106Lys		E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt	p.E106K	ENST00000372285.3	37	c.316	CCDS13393.1	20	.	.	.	.	.	.	.	.	.	.	g	2.593	-0.294664	0.05568	.	.	ENSG00000101017	ENST00000372285;ENST00000372276	D;D	0.93906	-3.31;-3.31	4.05	-2.92	0.05615	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.944296	0.08845	N	0.885354	T	0.74612	0.3739	N	0.01454	-0.855	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.68187	-0.5475	10	0.07030	T	0.85	1.7731	4.7172	0.12901	0.4143:0.3446:0.241:0.0	.	89;106;106;106	Q09LL4;P25942-2;P25942;Q6P2H9	.;.;TNR5_HUMAN;.	K	106	ENSP00000361359:E106K;ENSP00000361350:E106K	ENSP00000361350:E106K	E	+	1	0	CD40	44184715	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	-3.012000	0.00647	-0.416000	0.07473	-0.240000	0.12126	GAA	CD40	-	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt	ENSG00000101017		0.587	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40	HGNC	protein_coding	OTTHUMT00000080376.1	231	0.00	0	G	NM_001250		44751308	44751308	+1	no_errors	ENST00000372285	ensembl	human	known	69_37n	missense	51	32.47	25	SNP	0.000	A
CDCP1	64866	genome.wustl.edu	37	3	45127237	45127237	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:45127237C>G	ENST00000296129.1	-	9	2538	c.2404G>C	c.(2404-2406)Gag>Cag	p.E802Q		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	802						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGTTCACTCTCAGACTCAGGA	0.587																																						dbGAP											0													124.0	114.0	117.0					3																	45127237		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2404G>C	3.37:g.45127237C>G	ENSP00000296129:p.Glu802Gln		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	superfamily_CUB	p.E802Q	ENST00000296129.1	37	c.2404	CCDS2727.1	3	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276711	0.59758	.	.	ENSG00000163814	ENST00000296129	T	0.26067	1.76	5.67	4.8	0.61643	.	0.555896	0.20304	N	0.094969	T	0.31513	0.0799	L	0.60455	1.87	0.37762	D	0.92635	D	0.53885	0.963	P	0.48270	0.572	T	0.20739	-1.0266	10	0.45353	T	0.12	.	9.7747	0.40612	0.1386:0.7913:0.0:0.0701	.	802	Q9H5V8	CDCP1_HUMAN	Q	802	ENSP00000296129:E802Q	ENSP00000296129:E802Q	E	-	1	0	CDCP1	45102241	0.945000	0.32115	0.028000	0.17463	0.008000	0.06430	2.765000	0.47621	1.419000	0.47118	-0.217000	0.12591	GAG	CDCP1	-	NULL	ENSG00000163814		0.587	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	164	0.00	0	C	NM_022842		45127237	45127237	-1	no_errors	ENST00000296129	ensembl	human	known	69_37n	missense	60	29.41	25	SNP	0.188	G
CDH12	1010	genome.wustl.edu	37	5	21752076	21752076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:21752076G>A	ENST00000382254.1	-	15	3241	c.2155C>T	c.(2155-2157)Caa>Taa	p.Q719*	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Nonsense_Mutation_p.Q679*|CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q719*|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	719					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGTAGCCTTTGATGAATGAAA	0.483										HNSCC(59;0.17)																												dbGAP											0													263.0	226.0	238.0					5																	21752076		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2155C>T	5.37:g.21752076G>A	ENSP00000371689:p.Gln719*		B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q719*	ENST00000382254.1	37	c.2155	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	G	41	8.832452	0.98970	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.12	5.12	0.69794	.	0.374317	0.30356	N	0.009820	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	14.1987	0.65688	0.0:0.1496:0.8504:0.0	.	.	.	.	X	719;719;679	.	ENSP00000371689:Q719X	Q	-	1	0	CDH12	21787833	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	4.541000	0.60670	2.399000	0.81585	0.467000	0.42956	CAA	CDH12	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000154162		0.483	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	272	0.00	0	G	NM_004061		21752076	21752076	-1	no_errors	ENST00000382254	ensembl	human	known	69_37n	nonsense	190	39.94	127	SNP	1.000	A
CDK10	8558	genome.wustl.edu	37	16	89757939	89757939	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:89757939G>A	ENST00000353379.7	+	4	364	c.321G>A	c.(319-321)ggG>ggA	p.G107G	CDK10_ENST00000331006.8_Silent_p.G60G|CDK10_ENST00000505473.1_Silent_p.G36G	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGGTTGTGGGGAACCACCTGG	0.612																																						dbGAP											0													84.0	78.0	80.0					16																	89757939		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.321G>A	16.37:g.89757939G>A			A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G107	ENST00000353379.7	37	c.321	CCDS10984.2	16																																																																																			CDK10	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000185324		0.612	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	36	0.00	0	G			89757939	89757939	+1	no_errors	ENST00000353379	ensembl	human	known	69_37n	silent	20	31.03	9	SNP	0.977	A
CDK5	1020	genome.wustl.edu	37	7	150753678	150753678	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:150753678C>G	ENST00000485972.1	-	5	982	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	CDK5_ENST00000297518.4_Missense_Mutation_p.E101Q|SLC4A2_ENST00000413384.2_5'Flank|SLC4A2_ENST00000485713.1_5'Flank	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TTTACAATCTCAGGATCGAGG	0.532																																						dbGAP											0													70.0	70.0	70.0					7																	150753678		1918	4133	6051	-	-	-	SO:0001583	missense	0			X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"""Cyclin-dependent kinases"""	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.301G>C	7.37:g.150753678C>G	ENSP00000419782:p.Glu101Gln		A1XKG3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E101Q	ENST00000485972.1	37	c.301	CCDS47748.1	7	.	.	.	.	.	.	.	.	.	.	C	9.843	1.191638	0.21954	.	.	ENSG00000164885	ENST00000485972;ENST00000297518	T;T	0.66638	-0.22;0.92	4.49	4.49	0.54785	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.143577	0.48767	D	0.000163	T	0.44456	0.1294	N	0.19112	0.55	0.51767	D	0.999934	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.35699	-0.9778	10	0.02654	T	1	-20.89	10.6087	0.45408	0.0:0.8049:0.1951:0.0	.	101;101	Q00535-2;Q00535	.;CDK5_HUMAN	Q	101	ENSP00000419782:E101Q;ENSP00000297518:E101Q	ENSP00000297518:E101Q	E	-	1	0	CDK5	150384611	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.007000	0.63984	2.352000	0.79861	0.556000	0.70494	GAG	CDK5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000164885		0.532	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5	HGNC	protein_coding	OTTHUMT00000350965.3	37	0.00	0	C			150753678	150753678	-1	no_errors	ENST00000485972	ensembl	human	known	69_37n	missense	15	72.73	40	SNP	1.000	G
CDK7	1022	genome.wustl.edu	37	5	68568719	68568719	+	Splice_Site	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:68568719G>C	ENST00000256443.3	+	10	818	c.715G>C	c.(715-717)Gac>Cac	p.D239H	CDK7_ENST00000514676.1_Splice_Site_p.D202H|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_Splice_Site_p.D146H	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		ATTTTTACAGGACATGTGTAG	0.323								Nucleotide excision repair (NER)																														dbGAP											0													72.0	71.0	72.0					5																	68568719		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.715-1G>C	5.37:g.68568719G>C			Q9BS60|Q9UE19	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D239H	ENST00000256443.3	37	c.715	CCDS3999.1	5	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031423	0.54790	.	.	ENSG00000134058	ENST00000506563;ENST00000256443;ENST00000514676;ENST00000502604	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138785	0.64402	D	0.000005	T	0.57725	0.2073	L	0.52206	1.635	0.58432	D	0.999997	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.52200	-0.8607	9	.	.	.	.	17.9897	0.89165	0.0:0.0:1.0:0.0	.	202;239	D6RAD4;P50613	.;CDK7_HUMAN	H	146;239;202;146	ENSP00000425043:D146H;ENSP00000256443:D239H;ENSP00000422737:D202H;ENSP00000422121:D146H	.	D	+	1	0	CDK7	68604475	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.195000	0.94971	2.623000	0.88846	0.655000	0.94253	GAC	CDK7	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000134058		0.323	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK7	HGNC	protein_coding	OTTHUMT00000216802.3	64	0.00	0	G	NM_001799	Missense_Mutation	68568719	68568719	+1	no_errors	ENST00000256443	ensembl	human	known	69_37n	missense	21	50.00	21	SNP	1.000	C
CDKL4	344387	genome.wustl.edu	37	2	39456559	39456559	+	Missense_Mutation	SNP	C	C	G	rs141333215		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:39456559C>G	ENST00000395035.3	-	1	114	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q	CDKL4_ENST00000378803.1_Missense_Mutation_p.E39Q			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	39	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GGATCATCTTCAGATTCCACA	0.318																																						dbGAP											0													96.0	100.0	99.0					2																	39456559		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.115G>C	2.37:g.39456559C>G	ENSP00000378476:p.Glu39Gln		Q2NME9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E39Q	ENST00000395035.3	37	c.115		2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703390	0.48412	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.66815	-0.23;-0.23	5.34	4.47	0.54385	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000145	T	0.64034	0.2562	N	0.10972	0.075	0.53688	D	0.999978	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.995	T	0.63125	-0.6707	10	0.26408	T	0.33	-22.9055	11.8655	0.52490	0.0:0.9159:0.0:0.0841	.	39;39	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	Q	39	ENSP00000368080:E39Q;ENSP00000378476:E39Q	ENSP00000368080:E39Q	E	-	1	0	CDKL4	39310063	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	5.105000	0.64591	1.493000	0.48517	0.650000	0.86243	GAA	CDKL4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000205111		0.318	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	CDKL4	HGNC	protein_coding	OTTHUMT00000331655.1	94	0.00	0	C	XM_293029		39456559	39456559	-1	no_errors	ENST00000378803	ensembl	human	known	69_37n	missense	121	36.98	71	SNP	1.000	G
CELSR2	1952	genome.wustl.edu	37	1	109795443	109795443	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:109795443G>C	ENST00000271332.3	+	1	2803	c.2742G>C	c.(2740-2742)gtG>gtC	p.V914V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	914	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTTGGATGTGAATGACAATC	0.562																																					NSCLC(158;1285 2011 34800 34852 42084)	dbGAP											0													86.0	85.0	85.0					1																	109795443		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2742G>C	1.37:g.109795443G>C			Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V914	ENST00000271332.3	37	c.2742	CCDS796.1	1																																																																																			CELSR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000143126		0.562	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	16	0.00	0	G	NM_001408		109795443	109795443	+1	no_errors	ENST00000271332	ensembl	human	known	69_37n	silent	25	39.02	16	SNP	1.000	C
CELSR2	1952	genome.wustl.edu	37	1	109806318	109806318	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:109806318C>G	ENST00000271332.3	+	9	4981	c.4920C>G	c.(4918-4920)ctC>ctG	p.L1640L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1640	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTGGTACCTCAGCCTCATGT	0.652											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)	dbGAP											0													89.0	85.0	86.0					1																	109806318		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4920C>G	1.37:g.109806318C>G		1422	Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L1640	ENST00000271332.3	37	c.4920	CCDS796.1	1																																																																																			CELSR2	-	superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000143126		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	32	0.00	0	C	NM_001408		109806318	109806318	+1	no_errors	ENST00000271332	ensembl	human	known	69_37n	silent	10	56.52	13	SNP	1.000	G
CENPL	91687	genome.wustl.edu	37	1	173780430	173780430	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:173780430G>A	ENST00000345664.6	-	2	221	c.8C>T	c.(7-9)tCt>tTt	p.S3F	Y_RNA_ENST00000516548.1_RNA|CENPL_ENST00000356198.2_Missense_Mutation_p.S3F|CENPL_ENST00000367710.3_Missense_Mutation_p.S3F	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	3					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						TGCACTGTAAGAATCCATGGT	0.408																																						dbGAP											0													101.0	108.0	105.0					1																	173780430		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.8C>T	1.37:g.173780430G>A	ENSP00000323543:p.Ser3Phe		Q5TEL5|Q96ND4	Missense_Mutation	SNP	NULL	p.S3F	ENST00000345664.6	37	c.8	CCDS30938.1	1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808904	0.50421	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.50548	1.27;0.74;0.74	5.21	5.21	0.72293	.	0.902117	0.09622	N	0.777409	T	0.38585	0.1046	L	0.47716	1.5	0.09310	N	1	P;B	0.39624	0.681;0.214	P;B	0.45138	0.471;0.123	T	0.41698	-0.9494	10	0.87932	D	0	.	14.608	0.68495	0.0:0.0:1.0:0.0	.	3;3	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	F	3	ENSP00000348527:S3F;ENSP00000323543:S3F;ENSP00000356683:S3F	ENSP00000323543:S3F	S	-	2	0	CENPL	172047053	0.379000	0.25123	0.035000	0.18076	0.340000	0.28889	2.034000	0.41145	2.585000	0.87301	0.561000	0.74099	TCT	CENPL	-	NULL	ENSG00000120334		0.408	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPL	HGNC	protein_coding	OTTHUMT00000084213.1	108	0.00	0	G	NM_033319		173780430	173780430	-1	no_errors	ENST00000356198	ensembl	human	known	69_37n	missense	88	22.12	25	SNP	0.052	A
CEP350	9857	genome.wustl.edu	37	1	179989446	179989446	+	Nonsense_Mutation	SNP	T	T	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:179989446T>G	ENST00000367607.3	+	12	2955	c.2537T>G	c.(2536-2538)tTa>tGa	p.L846*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	846					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GCCAAGAAATTAGCTGGGGCC	0.468																																						dbGAP											0													139.0	143.0	142.0					1																	179989446		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2537T>G	1.37:g.179989446T>G	ENSP00000356579:p.Leu846*		O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.L846*	ENST00000367607.3	37	c.2537	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	T	44	10.829211	0.99474	.	.	ENSG00000135837	ENST00000367607	.	.	.	6.02	6.02	0.97574	.	0.000000	0.38381	N	0.001707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2061	0.82131	0.0:0.0:0.0:1.0	.	.	.	.	X	846	.	.	L	+	2	0	CEP350	178256069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.441000	0.80485	2.311000	0.77944	0.533000	0.62120	TTA	CEP350	-	NULL	ENSG00000135837		0.468	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	36	0.00	0	T	NM_014810		179989446	179989446	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	nonsense	41	31.67	19	SNP	1.000	G
CEP350	9857	genome.wustl.edu	37	1	180062885	180062885	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:180062885G>C	ENST00000367607.3	+	34	8063	c.7645G>C	c.(7645-7647)Gag>Cag	p.E2549Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2549	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGCATATTTTGAGTGCAAAGA	0.358																																						dbGAP											0													76.0	86.0	83.0					1																	180062885		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7645G>C	1.37:g.180062885G>C	ENSP00000356579:p.Glu2549Gln		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.E2549Q	ENST00000367607.3	37	c.7645	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.63|11.63	1.695716|1.695716	0.30052|0.30052	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000417046|ENST00000429851	D;D|.	0.91631|.	-2.88;-2.88|.	5.72|5.72	3.82|3.82	0.43975|0.43975	Cytoskeleton-associated protein, Gly-rich domain (4);|.	0.321548|.	0.21385|.	N|.	0.075419|.	T|.	0.27832|.	0.0685|.	N|N	0.13098|0.13098	0.295|0.295	0.29121|0.29121	N|N	0.880278|0.880278	B;B|.	0.26602|.	0.052;0.154|.	B;B|.	0.32980|.	0.091;0.156|.	T|.	0.18587|.	-1.0332|.	9|.	.|.	.|.	.|.	.|.	9.9835|9.9835	0.41828|0.41828	0.2109:0.0:0.7891:0.0|0.2109:0.0:0.7891:0.0	.|.	2549;2549|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Q|S	2549;13|723	ENSP00000356579:E2549Q;ENSP00000401608:E13Q|.	.|.	E|X	+|+	1|2	0|2	CEP350|CEP350	178329508|178329508	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	3.765000|3.765000	0.55272|0.55272	1.402000|1.402000	0.46780|0.46780	0.655000|0.655000	0.94253|0.94253	GAG|TGA	CEP350	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	ENSG00000135837		0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	49	0.00	0	G	NM_014810		180062885	180062885	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	66	29.03	27	SNP	1.000	C
CENPF	1063	genome.wustl.edu	37	1	214815502	214815502	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:214815502C>T	ENST00000366955.3	+	12	3989	c.3821C>T	c.(3820-3822)tCa>tTa	p.S1274L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGTATATTTCAGGGCCTCAT	0.393																																					Colon(80;575 1284 11000 14801 43496)	dbGAP											0													55.0	55.0	55.0					1																	214815502		2203	4300	6503	-	-	-	SO:0001583	missense	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3821C>T	1.37:g.214815502C>T	ENSP00000355922:p.Ser1274Leu		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.S1274L	ENST00000366955.3	37	c.3821	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	9.092	1.001893	0.19121	.	.	ENSG00000117724	ENST00000366955	T	0.27720	1.65	5.06	3.19	0.36642	.	0.000000	0.32357	N	0.006209	T	0.20495	0.0493	.	.	.	0.09310	N	0.999998	B	0.33549	0.417	B	0.28553	0.091	T	0.15292	-1.0442	9	0.66056	D	0.02	.	7.2178	0.25969	0.0:0.7188:0.1388:0.1424	.	1274	P49454	CENPF_HUMAN	L	1274	ENSP00000355922:S1274L	ENSP00000355922:S1274L	S	+	2	0	CENPF	212882125	0.000000	0.05858	0.005000	0.12908	0.351000	0.29236	0.516000	0.22817	0.547000	0.28938	0.511000	0.50034	TCA	CENPF	-	NULL	ENSG00000117724		0.393	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	20	0.00	0	C	NM_016343		214815502	214815502	+1	no_errors	ENST00000366955	ensembl	human	known	69_37n	missense	28	32.56	14	SNP	0.083	T
CETN3	1070	genome.wustl.edu	37	5	89705477	89705479	+	Start_Codon_Del	DEL	ATT	ATT	-			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	ATT	ATT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:89705477_89705479delATT	ENST00000283122.3	-	0	124_126				CETN3_ENST00000522864.1_Start_Codon_Del|CETN3_ENST00000522565.1_Start_Codon_Del|CETN3_ENST00000522083.1_Start_Codon_Del|CETN3_ENST00000522842.1_Start_Codon_Del	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3						centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		AGCTAAACTCATTATCTCTTCGC	0.581																																						dbGAP											0																																										-	-	-	SO:0001582	initiator_codon_variant	0			Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"""EF-hand domain containing"""	1868	protein-coding gene	gene with protein product	"""CDC31 yeast homolog"", ""EF-hand superfamily member"""	602907	"""centrin, EF-hand protein, 3 (CDC31 yeast homolog)"""			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326		5.37:g.89705477_89705479delATT			Q53YD2|Q9BS23	Frame_Shift_Del	DEL	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.M1fs	ENST00000283122.3	37	c.2_1	CCDS4066.1	5																																																																																			CETN3	-	NULL	ENSG00000153140		0.581	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN3	HGNC	protein_coding	OTTHUMT00000254097.1	34	0.00	0	ATT	NM_004365		89705477	89705479	-1	no_errors	ENST00000283122	ensembl	human	known	69_37n	frame_shift_del	22	30.30	10	DEL	1.000:1.000	-
CHAF1A	10036	genome.wustl.edu	37	19	4409318	4409318	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:4409318G>A	ENST00000301280.5	+	3	623	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	174	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCCTGGAGAGACCCTTTCAG	0.567								Chromatin Structure																														dbGAP											0													90.0	90.0	90.0					19																	4409318		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.522G>A	19.37:g.4409318G>A			Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	pfam_CAF1A,pfam_CAF-1_p150	p.E174	ENST00000301280.5	37	c.522	CCDS32875.1	19																																																																																			CHAF1A	-	NULL	ENSG00000167670		0.567	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	69	0.00	0	G	NM_005483		4409318	4409318	+1	no_errors	ENST00000301280	ensembl	human	known	69_37n	silent	48	38.46	30	SNP	0.939	A
CHD9	80205	genome.wustl.edu	37	16	53288467	53288467	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:53288467G>C	ENST00000398510.3	+	17	4066	c.3979G>C	c.(3979-3981)Gat>Cat	p.D1327H	CHD9_ENST00000566029.1_Missense_Mutation_p.D1327H|CHD9_ENST00000564845.1_Missense_Mutation_p.D1327H|CHD9_ENST00000447540.1_Missense_Mutation_p.D1327H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1327	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACTGGGCCTAGATAAAGCTGT	0.388																																						dbGAP											0													248.0	243.0	244.0					16																	53288467		1877	4107	5984	-	-	-	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3979G>C	16.37:g.53288467G>C	ENSP00000381522:p.Asp1327His		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D1327H	ENST00000398510.3	37	c.3979		16	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997942	0.93227	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.75938	-0.98;-0.98	5.39	5.39	0.77823	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000014	D	0.86657	0.5985	M	0.73430	2.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.996;1.0;0.995;0.998	D	0.87873	0.2672	10	0.87932	D	0	-20.392	19.1442	0.93458	0.0:0.0:1.0:0.0	.	853;1327;1327;1327	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	H	1327;1327;853	ENSP00000396345:D1327H;ENSP00000381522:D1327H	ENSP00000219084:D853H	D	+	1	0	CHD9	51845968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.533000	0.85409	0.585000	0.79938	GAT	CHD9	-	pfscan_Helicase_C	ENSG00000177200		0.388	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	67	0.00	0	G	NM_025134		53288467	53288467	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	missense	63	39.81	43	SNP	1.000	C
CHP1	11261	genome.wustl.edu	37	15	41571018	41571018	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:41571018C>T	ENST00000334660.5	+	6	705	c.465C>T	c.(463-465)atC>atT	p.I155I	CHP1_ENST00000560397.1_Intron|CHP1_ENST00000558351.1_3'UTR	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	155	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for nuclear export signal.				calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)										TGGGCAGCATCGCAGACAGGA	0.478																																						dbGAP											0													148.0	121.0	130.0					15																	41571018		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.465C>T	15.37:g.41571018C>T			B2R6H9|Q6FHZ9	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I155	ENST00000334660.5	37	c.465	CCDS10073.1	15																																																																																			CHP1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000187446		0.478	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP1	HGNC	protein_coding	OTTHUMT00000252554.2	157	0.00	0	C	NM_007236		41571018	41571018	+1	no_errors	ENST00000334660	ensembl	human	known	69_37n	silent	77	43.80	60	SNP	0.958	T
CHST4	10164	genome.wustl.edu	37	16	71571614	71571614	+	Missense_Mutation	SNP	G	G	A	rs570836136		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:71571614G>A	ENST00000338482.5	+	3	1377	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	CHST4_ENST00000572450.1_Missense_Mutation_p.R345Q|CHST4_ENST00000539698.3_Missense_Mutation_p.R345Q|ZNF19_ENST00000568446.1_Intron|RP11-510M2.5_ENST00000568523.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	345					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AAGGTTTCTCGACTTCAGAAA	0.527											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													63.0	58.0	59.0					16																	71571614		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.1034G>A	16.37:g.71571614G>A	ENSP00000341206:p.Arg345Gln	1131	Q8IV46|Q9Y5R3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.R345Q	ENST00000338482.5	37	c.1034	CCDS10902.1	16	.	.	.	.	.	.	.	.	.	.	G	7.481	0.648655	0.14516	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.82167	-1.58;-1.58	6.17	-0.497	0.12023	Sulfotransferase domain (1);	0.215461	0.40222	N	0.001150	T	0.66458	0.2791	L	0.27053	0.805	0.09310	N	1	B	0.28291	0.206	B	0.27380	0.079	T	0.52593	-0.8555	10	0.09338	T	0.73	-15.6179	10.2661	0.43455	0.5086:0.0:0.4914:0.0	.	345	Q8NCG5	CHST4_HUMAN	Q	345	ENSP00000341206:R345Q;ENSP00000441204:R345Q	ENSP00000341206:R345Q	R	+	2	0	CHST4	70129115	0.000000	0.05858	0.002000	0.10522	0.355000	0.29361	0.571000	0.23669	-0.036000	0.13669	-0.136000	0.14681	CGA	CHST4	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	ENSG00000140835		0.527	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4	36	0.00	0	G	NM_005769		71571614	71571614	+1	no_errors	ENST00000338482	ensembl	human	known	69_37n	missense	14	39.13	9	SNP	0.000	A
CHUK	1147	genome.wustl.edu	37	10	101967035	101967035	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:101967035C>T	ENST00000370397.7	-	11	1269	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	395					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AATGGCCCTTCATATACAGTT	0.313																																					Ovarian(159;52 1904 10536 35305 37148)	dbGAP											0													70.0	70.0	70.0					10																	101967035		2202	4296	6498	-	-	-	SO:0001583	missense	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1183G>A	10.37:g.101967035C>T	ENSP00000359424:p.Glu395Lys		O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E395K	ENST00000370397.7	37	c.1183	CCDS7488.1	10	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712767	0.68730	.	.	ENSG00000213341	ENST00000370397	T	0.49139	0.79	5.68	5.68	0.88126	.	0.312733	0.34507	N	0.003916	T	0.48169	0.1485	M	0.62723	1.935	0.35050	D	0.760541	B	0.26672	0.156	B	0.21917	0.037	T	0.57260	-0.7842	10	0.46703	T	0.11	-9.6176	17.2953	0.87169	0.0:1.0:0.0:0.0	.	395	O15111	IKKA_HUMAN	K	395	ENSP00000359424:E395K	ENSP00000359424:E395K	E	-	1	0	CHUK	101957025	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.794000	0.55492	2.678000	0.91216	0.650000	0.86243	GAA	CHUK	-	NULL	ENSG00000213341		0.313	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	34	0.00	0	C	NM_001278		101967035	101967035	-1	no_errors	ENST00000370397	ensembl	human	known	69_37n	missense	46	41.25	33	SNP	1.000	T
CKAP5	9793	genome.wustl.edu	37	11	46842741	46842741	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:46842741C>G	ENST00000529230.1	-	2	88	c.42G>C	c.(40-42)caG>caC	p.Q14H	CKAP5_ENST00000415402.1_Missense_Mutation_p.Q14H|CKAP5_ENST00000312055.5_Missense_Mutation_p.Q14H|CKAP5_ENST00000354558.3_Missense_Mutation_p.Q14H			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	14					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTTCACATTTCTGATCAACTG	0.388																																					Ovarian(4;85 273 2202 4844 13323)	dbGAP											0													239.0	209.0	219.0					11																	46842741		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.42G>C	11.37:g.46842741C>G	ENSP00000432768:p.Gln14His		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Q14H	ENST00000529230.1	37	c.42	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168150	0.78339	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558;ENST00000526496	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.77	4.87	0.63330	Armadillo-type fold (1);	0.108032	0.64402	D	0.000003	T	0.62146	0.2404	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.67145	0.994;0.996	D;D	0.78314	0.991;0.964	T	0.65717	-0.6100	10	0.87932	D	0	-2.0342	14.8408	0.70223	0.0:0.9313:0.0:0.0687	.	14;14	Q14008-2;Q14008	.;CKAP5_HUMAN	H	14	ENSP00000432768:Q14H;ENSP00000395302:Q14H;ENSP00000310227:Q14H;ENSP00000346566:Q14H;ENSP00000436769:Q14H	ENSP00000310227:Q14H	Q	-	3	2	CKAP5	46799317	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.645000	0.46621	1.468000	0.48064	0.552000	0.68991	CAG	CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.388	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	91	0.00	0	C	NM_014756		46842741	46842741	-1	no_errors	ENST00000415402	ensembl	human	known	69_37n	missense	115	31.14	52	SNP	1.000	G
CLCNKB	1188	genome.wustl.edu	37	1	16370994	16370994	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:16370994G>C	ENST00000375679.4	+	2	118	c.7G>C	c.(7-9)Gag>Cag	p.E3Q		NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	3					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGATGGAGGAGTTTGTGGG	0.667																																						dbGAP											0													67.0	65.0	65.0					1																	16370994		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.7G>C	1.37:g.16370994G>C	ENSP00000364831:p.Glu3Gln		B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.E3Q	ENST00000375679.4	37	c.7	CCDS168.1	1	.	.	.	.	.	.	.	.	.	.	g	16.38	3.106924	0.56291	.	.	ENSG00000184908	ENST00000375679;ENST00000331579	D	0.84730	-1.89	4.23	4.23	0.50019	.	0.365001	0.27096	N	0.020948	D	0.87799	0.6268	L	0.48877	1.53	0.80722	D	1	D	0.65815	0.995	P	0.61275	0.886	D	0.88829	0.3304	10	0.87932	D	0	.	12.4404	0.55621	0.0:0.0:1.0:0.0	.	3	P51801	CLCKB_HUMAN	Q	3	ENSP00000364831:E3Q	ENSP00000332055:E3Q	E	+	1	0	CLCNKB	16243581	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	4.480000	0.60243	2.053000	0.61076	0.462000	0.41574	GAG	CLCNKB	-	NULL	ENSG00000184908		0.667	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCNKB	HGNC	protein_coding	OTTHUMT00000026331.1	40	0.00	0	G	NM_000085		16370994	16370994	+1	no_errors	ENST00000375679	ensembl	human	known	69_37n	missense	11	57.69	15	SNP	1.000	C
CLEC4M	10332	genome.wustl.edu	37	19	7833782	7833782	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:7833782G>C	ENST00000327325.5	+	7	1226	c.1108G>C	c.(1108-1110)Gaa>Caa	p.E370Q	CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000595496.1_Missense_Mutation_p.E234Q|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000359059.5_Missense_Mutation_p.E303Q|CLEC4M_ENST00000596707.1_Missense_Mutation_p.E303Q|CLEC4M_ENST00000248228.4_Missense_Mutation_p.E348Q|CLEC4M_ENST00000334806.5_Missense_Mutation_p.E319Q|CLEC4M_ENST00000394122.2_Missense_Mutation_p.E358Q|CLEC4M_ENST00000596363.1_3'UTR	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	370	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGACTGTGCGGAATTTAGTGG	0.517																																						dbGAP											0													182.0	165.0	171.0					19																	7833782		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1108G>C	19.37:g.7833782G>C	ENSP00000316228:p.Glu370Gln		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E370Q	ENST00000327325.5	37	c.1108	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267690	0.40095	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	2.46	2.46	0.29980	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.36303	0.0962	M	0.67397	2.05	0.22811	N	0.998703	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0;0.995	D;D;D;D;D;P	0.91635	0.996;0.99;0.999;0.979;0.957;0.846	T	0.03493	-1.1031	9	0.72032	D	0.01	.	8.5871	0.33664	0.0:0.0:1.0:0.0	.	319;303;370;358;347;234	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	Q	370;358;348;319;303	ENSP00000316228:E370Q;ENSP00000377680:E358Q;ENSP00000248228:E348Q;ENSP00000335228:E319Q;ENSP00000351954:E303Q	ENSP00000248228:E348Q	E	+	1	0	CLEC4M	7739782	0.046000	0.20272	0.004000	0.12327	0.028000	0.11728	2.154000	0.42291	1.700000	0.51204	0.306000	0.20318	GAA	CLEC4M	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000104938		0.517	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	HGNC	protein_coding	OTTHUMT00000461161.1	115	0.00	0	G	NM_014257		7833782	7833782	+1	no_errors	ENST00000327325	ensembl	human	known	69_37n	missense	43	51.69	46	SNP	0.004	C
CLSTN1	22883	genome.wustl.edu	37	1	9790616	9790616	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:9790616C>T	ENST00000377298.4	-	19	3688	c.2896G>A	c.(2896-2898)Gca>Aca	p.A966T	CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_Missense_Mutation_p.A947T|CLSTN1_ENST00000361311.4_Missense_Mutation_p.A956T	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	966					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCGGGTTGCGTTCTGGGGG	0.642																																						dbGAP											0													92.0	82.0	85.0					1																	9790616		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2896G>A	1.37:g.9790616C>T	ENSP00000366513:p.Ala966Thr		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A966T	ENST00000377298.4	37	c.2896	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	C	3.603	-0.081149	0.07141	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	5.19	2.18	0.27775	.	1.619370	0.03450	N	0.210494	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B;B;B;B	0.11235	0.002;0.004;0.002;0.001	B;B;B;B	0.09377	0.002;0.004;0.002;0.001	T	0.41963	-0.9479	10	0.22109	T	0.4	-1.0249	5.8742	0.18820	0.273:0.5847:0.0:0.1423	.	947;956;966;321	B4E3Q1;O94985-2;O94985;B3KMD3	.;.;CSTN1_HUMAN;.	T	966;956;767;947;947	ENSP00000366513:A966T;ENSP00000354997:A956T;ENSP00000401934:A767T;ENSP00000366502:A947T	ENSP00000354997:A956T	A	-	1	0	CLSTN1	9713203	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	1.507000	0.35758	0.169000	0.19679	0.655000	0.94253	GCA	CLSTN1	-	NULL	ENSG00000171603		0.642	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	36	0.00	0	C			9790616	9790616	-1	no_errors	ENST00000377298	ensembl	human	known	69_37n	missense	14	48.28	14	SNP	0.000	T
CLUAP1	23059	genome.wustl.edu	37	16	3586146	3586146	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:3586146G>T	ENST00000576634.1	+	12	1261	c.1117G>T	c.(1117-1119)Gac>Tac	p.D373Y	CLUAP1_ENST00000341633.5_Missense_Mutation_p.D392Y|NLRC3_ENST00000419350.2_RNA|CLUAP1_ENST00000445795.2_Missense_Mutation_p.D151Y|NLRC3_ENST00000359128.5_RNA|CLUAP1_ENST00000571025.1_3'UTR|NLRC3_ENST00000301749.7_RNA|NLRC3_ENST00000448023.2_RNA|CLUAP1_ENST00000417763.2_Missense_Mutation_p.D207Y|CLUAP1_ENST00000572600.1_Missense_Mutation_p.D207Y	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	373	Asp-rich.				cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GAGTGAAATTGACATGGAAGA	0.493																																						dbGAP											0													110.0	99.0	102.0					16																	3586146		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.1117G>T	16.37:g.3586146G>T	ENSP00000460850:p.Asp373Tyr		O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	pfam_Clusterin-associated_protein-1,superfamily_CH-domain	p.D373Y	ENST00000576634.1	37	c.1117	CCDS32381.1	16	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585324	0.46110	.	.	ENSG00000103351	ENST00000341633;ENST00000417763;ENST00000445795	T;T	0.54675	0.56;0.72	5.82	4.86	0.63082	.	0.085843	0.85682	D	0.000000	T	0.65048	0.2654	M	0.70275	2.135	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.59761	0.863;0.733	T	0.65071	-0.6257	10	0.37606	T	0.19	-28.5678	11.2439	0.48985	0.0854:0.0:0.9146:0.0	.	207;373	Q96AJ1-2;Q96AJ1	.;CLUA1_HUMAN	Y	373;207;151	ENSP00000388642:D207Y;ENSP00000397710:D151Y	ENSP00000344392:D373Y	D	+	1	0	CLUAP1	3526147	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	4.918000	0.63376	1.444000	0.47605	0.484000	0.47621	GAC	CLUAP1	-	NULL	ENSG00000103351		0.493	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUAP1	HGNC	protein_coding	OTTHUMT00000437883.2	79	0.00	0	G	NM_024793		3586146	3586146	+1	no_errors	ENST00000576634	ensembl	human	known	69_37n	missense	70	38.05	43	SNP	1.000	T
CMAS	55907	genome.wustl.edu	37	12	22213810	22213810	+	Silent	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:22213810G>T	ENST00000229329.2	+	5	868	c.738G>T	c.(736-738)gtG>gtT	p.V246V		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	246					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						AACATAGTGTGGATATAGATG	0.299																																						dbGAP											0													124.0	130.0	128.0					12																	22213810		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.738G>T	12.37:g.22213810G>T			Q96AX5|Q9NQZ0	Silent	SNP	pfam_Cytidylyl_trans,superfamily_HAD-like_dom	p.V246	ENST00000229329.2	37	c.738	CCDS8696.1	12																																																																																			CMAS	-	pfam_Cytidylyl_trans	ENSG00000111726		0.299	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMAS	HGNC	protein_coding	OTTHUMT00000402235.1	31	0.00	0	G	NM_018686		22213810	22213810	+1	no_errors	ENST00000229329	ensembl	human	known	69_37n	silent	43	38.57	27	SNP	1.000	T
CNOT1	23019	genome.wustl.edu	37	16	58573836	58573836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:58573836G>A	ENST00000317147.5	-	35	5160	c.4828C>T	c.(4828-4830)Cag>Tag	p.Q1610*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q1605*|CNOT1_ENST00000245138.4_Nonsense_Mutation_p.Q461*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1610					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCATAAATCTGAGCTACATCA	0.398																																						dbGAP											0													136.0	111.0	119.0					16																	58573836		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4828C>T	16.37:g.58573836G>A	ENSP00000320949:p.Gln1610*		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Nonsense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.Q1610*	ENST00000317147.5	37	c.4828	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	G	48	14.069372	0.99778	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	.	.	.	5.68	5.68	0.88126	.	0.051177	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-27.7817	19.7923	0.96464	0.0:0.0:1.0:0.0	.	.	.	.	X	1610;461;1605	.	ENSP00000245138:Q461X	Q	-	1	0	CNOT1	57131337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.876000	0.87215	2.693000	0.91896	0.655000	0.94253	CAG	CNOT1	-	NULL	ENSG00000125107		0.398	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	42	0.00	0	G	NM_016284		58573836	58573836	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	nonsense	39	44.29	31	SNP	1.000	A
CNRIP1	25927	genome.wustl.edu	37	2	68511565	68511565	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:68511565C>G	ENST00000409559.3	-	3	381	c.382G>C	c.(382-384)Gaa>Caa	p.E128Q		NM_001111101.1	NP_001104571.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	0										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						TGTGCTTATTCTTCACATTCA	0.378																																						dbGAP											0													138.0	117.0	123.0					2																	68511565		692	1591	2283	-	-	-	SO:0001583	missense	0			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000409559.3:c.382G>C	2.37:g.68511565C>G	ENSP00000386883:p.Glu128Gln		B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	NULL	p.E128Q	ENST00000409559.3	37	c.382	CCDS46311.1	2	.	.	.	.	.	.	.	.	.	.	C	3.405	-0.121389	0.06838	.	.	ENSG00000119865	ENST00000409559	.	.	.	2.74	0.907	0.19321	.	.	.	.	.	T	0.29882	0.0747	.	.	.	0.09310	N	1	B	0.20368	0.044	B	0.20767	0.031	T	0.30822	-0.9965	7	0.87932	D	0	.	4.6348	0.12520	0.0:0.6875:0.0:0.3125	.	128	Q96F85-2	.	Q	128	.	ENSP00000386883:E128Q	E	-	1	0	CNRIP1	68365069	.	.	0.001000	0.08648	0.009000	0.06853	.	.	0.251000	0.21505	0.436000	0.28706	GAA	CNRIP1	-	NULL	ENSG00000119865		0.378	CNRIP1-002	KNOWN	basic|CCDS	protein_coding	CNRIP1	HGNC	protein_coding	OTTHUMT00000326817.2	47	0.00	0	C	NM_015463		68511565	68511565	-1	no_errors	ENST00000409559	ensembl	human	known	69_37n	missense	35	50.70	36	SNP	0.001	G
CNTFR	1271	genome.wustl.edu	37	9	34557648	34557648	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:34557648G>C	ENST00000378980.3	-	6	773	c.480C>G	c.(478-480)ctC>ctG	p.L160L	CNTFR_ENST00000351266.4_Silent_p.L160L	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	160	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGCGGTTCTTGAGGGCTGGGT	0.547																																						dbGAP											0													148.0	124.0	132.0					9																	34557648		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.480C>G	9.37:g.34557648G>C			Q5U050	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L160	ENST00000378980.3	37	c.480	CCDS6558.1	9																																																																																			CNTFR	-	superfamily_Fibronectin_type3	ENSG00000122756		0.547	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNTFR	HGNC	protein_coding	OTTHUMT00000052176.1	113	0.00	0	G			34557648	34557648	-1	no_errors	ENST00000351266	ensembl	human	known	69_37n	silent	18	64.00	32	SNP	1.000	C
CNTN1	1272	genome.wustl.edu	37	12	41419117	41419117	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:41419117G>C	ENST00000551295.2	+	21	2806	c.2689G>C	c.(2689-2691)Gag>Cag	p.E897Q	CNTN1_ENST00000347616.1_Missense_Mutation_p.E897Q|CNTN1_ENST00000348761.2_Missense_Mutation_p.E886Q|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	897	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGACATGATTGAGGCTTTCAC	0.448																																						dbGAP											0													156.0	166.0	162.0					12																	41419117		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2689G>C	12.37:g.41419117G>C	ENSP00000447006:p.Glu897Gln		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E897Q	ENST00000551295.2	37	c.2689	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	8.880	0.951512	0.18431	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.54479	0.57;0.57;0.57	5.15	5.15	0.70609	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.650417	0.16413	N	0.215514	T	0.39462	0.1079	L	0.27053	0.805	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.15870	0.014;0.006	T	0.13072	-1.0523	10	0.23302	T	0.38	.	12.8489	0.57846	0.076:0.0:0.924:0.0	.	886;897	Q12860-2;Q12860	.;CNTN1_HUMAN	Q	897;897;886	ENSP00000447006:E897Q;ENSP00000325660:E897Q;ENSP00000261160:E886Q	ENSP00000325660:E897Q	E	+	1	0	CNTN1	39705384	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	2.996000	0.49449	2.780000	0.95670	0.655000	0.94253	GAG	CNTN1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000018236		0.448	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	33	0.00	0	G	NM_001843		41419117	41419117	+1	no_errors	ENST00000347616	ensembl	human	known	69_37n	missense	13	56.67	17	SNP	0.957	C
CNTN4	152330	genome.wustl.edu	37	3	3085365	3085365	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:3085365G>C	ENST00000397461.1	+	22	3172	c.2788G>C	c.(2788-2790)Gag>Cag	p.E930Q	CNTN4_ENST00000397459.2_Missense_Mutation_p.E602Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.E930Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.E930Q|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.E602Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.E711Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	930	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCTGGATAATGAGTCGGAAGT	0.413																																						dbGAP											0													66.0	66.0	66.0					3																	3085365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2788G>C	3.37:g.3085365G>C	ENSP00000380602:p.Glu930Gln		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E930Q	ENST00000397461.1	37	c.2788	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814143	0.90790	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.61	5.61	0.85477	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.83835	0.0254	10	0.72032	D	0.01	.	19.6476	0.95789	0.0:0.0:1.0:0.0	.	929;930	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	Q	930;930;930;711;602;602	ENSP00000396010:E930Q;ENSP00000380602:E930Q;ENSP00000413642:E930Q;ENSP00000351267:E711Q;ENSP00000380600:E602Q;ENSP00000392077:E602Q	ENSP00000351267:E711Q	E	+	1	0	CNTN4	3060365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.640000	0.98453	2.653000	0.90120	0.655000	0.94253	GAG	CNTN4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144619		0.413	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	34	0.00	0	G			3085365	3085365	+1	no_errors	ENST00000397461	ensembl	human	known	69_37n	missense	64	31.91	30	SNP	1.000	C
CNTNAP5	129684	genome.wustl.edu	37	2	125521645	125521645	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:125521645C>G	ENST00000431078.1	+	16	2815	c.2451C>G	c.(2449-2451)ttC>ttG	p.F817L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	817	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATATTTCCTTCTTTTTTAAAA	0.413																																						dbGAP											0													138.0	130.0	132.0					2																	125521645		1824	4079	5903	-	-	-	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2451C>G	2.37:g.125521645C>G	ENSP00000399013:p.Phe817Leu		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F817L	ENST00000431078.1	37	c.2451	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852284	0.71719	.	.	ENSG00000155052	ENST00000431078	T	0.79033	-1.23	5.9	2.94	0.34122	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.116291	0.38381	N	0.001713	T	0.68705	0.3030	L	0.49126	1.545	0.50171	D	0.999851	B	0.24920	0.114	B	0.24974	0.057	T	0.66348	-0.5946	10	0.42905	T	0.14	.	7.7221	0.28738	0.1248:0.6861:0.1207:0.0684	.	817	Q8WYK1	CNTP5_HUMAN	L	817	ENSP00000399013:F817L	ENSP00000399013:F817L	F	+	3	2	CNTNAP5	125238115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.225000	0.32551	1.466000	0.48025	0.655000	0.94253	TTC	CNTNAP5	-	superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.413	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	146	0.00	0	C			125521645	125521645	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	missense	114	30.91	51	SNP	1.000	G
COG8	84342	genome.wustl.edu	37	16	69369072	69369072	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:69369072G>C	ENST00000306875.4	-	3	879	c.765C>G	c.(763-765)ctC>ctG	p.L255L	RP11-343C2.9_ENST00000563634.1_Silent_p.L130L|COG8_ENST00000562081.1_Silent_p.L255L|RP11-343C2.12_ENST00000562949.1_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	255					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGATGGACCGGAGCCAAGCAT	0.522																																						dbGAP											0													81.0	67.0	72.0					16																	69369072		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.765C>G	16.37:g.69369072G>C			Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	pfam_Dor1,superfamily_Cullin_repeat-like_dom,pirsf_COG_su8	p.L255	ENST00000306875.4	37	c.765	CCDS10876.1	16																																																																																			COG8	-	pfam_Dor1,superfamily_Cullin_repeat-like_dom,pirsf_COG_su8	ENSG00000213380		0.522	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG8	HGNC	protein_coding	OTTHUMT00000268948.2	29	0.00	0	G	NM_032382		69369072	69369072	-1	no_errors	ENST00000306875	ensembl	human	known	69_37n	silent	26	35.00	14	SNP	1.000	C
COL11A1	1301	genome.wustl.edu	37	1	103343701	103343701	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:103343701C>G	ENST00000370096.3	-	67	5607	c.5295G>C	c.(5293-5295)aaG>aaC	p.K1765N	COL11A1_ENST00000358392.2_Missense_Mutation_p.K1777N|COL11A1_ENST00000512756.1_Missense_Mutation_p.K1649N|COL11A1_ENST00000353414.4_Missense_Mutation_p.K1726N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1765	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAATGACAGTCTTTTCATAGC	0.299																																						dbGAP											0													82.0	76.0	78.0					1																	103343701		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5295G>C	1.37:g.103343701C>G	ENSP00000359114:p.Lys1765Asn		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.K1777N	ENST00000370096.3	37	c.5331	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546005	0.45383	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.5	1.46	0.22682	Fibrillar collagen, C-terminal (4);	0.051233	0.85682	N	0.000000	T	0.67869	0.2939	M	0.92649	3.33	0.52501	D	0.999951	B;B;B;B;B	0.11235	0.004;0.003;0.003;0.004;0.0	B;B;B;B;B	0.12156	0.004;0.004;0.004;0.007;0.002	T	0.64956	-0.6285	10	0.72032	D	0.01	.	4.4684	0.11700	0.2686:0.5176:0.0:0.2138	.	1649;1726;1777;1765;985	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	N	1765;1777;1726;985;1649	ENSP00000359114:K1765N;ENSP00000351163:K1777N;ENSP00000302551:K1726N;ENSP00000426533:K1649N	ENSP00000302551:K1726N	K	-	3	2	COL11A1	103116289	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	2.612000	0.46343	0.112000	0.17975	-0.857000	0.03018	AAG	COL11A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000060718		0.299	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	54	0.00	0	C	NM_080630		103343701	103343701	-1	no_errors	ENST00000358392	ensembl	human	known	69_37n	missense	53	23.19	16	SNP	1.000	G
COL13A1	1305	genome.wustl.edu	37	10	71562459	71562459	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:71562459C>G	ENST00000398978.3	+	1	772	c.280C>G	c.(280-282)Caa>Gaa	p.Q94E	COL13A1_ENST00000398972.3_Missense_Mutation_p.Q94E|COL13A1_ENST00000354547.3_Missense_Mutation_p.Q94E|COL13A1_ENST00000398966.3_Missense_Mutation_p.Q94E|COL13A1_ENST00000398969.3_Missense_Mutation_p.Q94E|COL13A1_ENST00000398968.3_Missense_Mutation_p.Q94E|COL13A1_ENST00000517713.1_Missense_Mutation_p.Q94E|COL13A1_ENST00000398971.3_Missense_Mutation_p.Q94E|COL13A1_ENST00000356340.3_Missense_Mutation_p.Q94E|COL13A1_ENST00000522165.1_Missense_Mutation_p.Q94E|COL13A1_ENST00000398974.3_Missense_Mutation_p.Q94E|COL13A1_ENST00000357811.3_Missense_Mutation_p.Q94E|COL13A1_ENST00000520267.1_Missense_Mutation_p.Q94E|COL13A1_ENST00000398973.3_Missense_Mutation_p.Q94E|COL13A1_ENST00000520133.1_Missense_Mutation_p.Q94E|COL13A1_ENST00000398964.3_Missense_Mutation_p.Q94E	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						ACGAGTCAATCAACTGCTGGA	0.662																																						dbGAP											0													169.0	174.0	173.0					10																	71562459		2004	4177	6181	-	-	-	SO:0001583	missense	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.280C>G	10.37:g.71562459C>G	ENSP00000381949:p.Gln94Glu			Missense_Mutation	SNP	pfam_Collagen	p.Q94E	ENST00000398978.3	37	c.280	CCDS44419.1	10	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895800	0.33442	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91996	-2.85;-2.66;-2.71;-2.76;-2.95;-2.72;-2.77;-2.63;-2.74;-2.75;-2.72;-2.74;-2.69;-2.62;-2.69;-2.65	5.36	4.44	0.53790	.	0.190725	0.25964	N	0.027174	D	0.86826	0.6026	N	0.25245	0.725	0.26881	N	0.967533	P;P;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B	0.46064	0.798;0.872;0.206;0.131;0.131;0.131;0.131;0.131;0.131;0.131;0.206;0.206;0.49;0.206;0.206;0.206;0.131;0.206	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.41088	0.188;0.347;0.085;0.039;0.039;0.039;0.039;0.039;0.039;0.039;0.085;0.085;0.083;0.085;0.085;0.085;0.039;0.085	T	0.81566	-0.0874	10	0.72032	D	0.01	-1.8935	14.673	0.68958	0.146:0.854:0.0:0.0	.	94;94;94;94;94;94;94;94;94;94;94;94;94;94;94;94;94;94	Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	E	94	ENSP00000381946:Q94E;ENSP00000381943:Q94E;ENSP00000381940:Q94E;ENSP00000381938:Q94E;ENSP00000381936:Q94E;ENSP00000381941:Q94E;ENSP00000348695:Q94E;ENSP00000381944:Q94E;ENSP00000381945:Q94E;ENSP00000381949:Q94E;ENSP00000346553:Q94E;ENSP00000350463:Q94E;ENSP00000428057:Q94E;ENSP00000430061:Q94E;ENSP00000428342:Q94E;ENSP00000430173:Q94E	ENSP00000346553:Q94E	Q	+	1	0	COL13A1	71232465	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.331000	0.52075	1.242000	0.43836	0.456000	0.33151	CAA	COL13A1	-	NULL	ENSG00000197467		0.662	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	18	0.00	0	C	NM_005203		71562459	71562459	+1	no_errors	ENST00000356340	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	1.000	G
COL13A1	1305	genome.wustl.edu	37	10	71705450	71705450	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:71705450G>A	ENST00000398978.3	+	36	2451	c.1959G>A	c.(1957-1959)atG>atA	p.M653I	COL13A1_ENST00000398972.3_Missense_Mutation_p.M639I|COL13A1_ENST00000354547.3_Missense_Mutation_p.M631I|COL13A1_ENST00000398966.3_Missense_Mutation_p.M631I|COL13A1_ENST00000398969.3_Missense_Mutation_p.M581I|COL13A1_ENST00000398968.3_Missense_Mutation_p.M634I|COL13A1_ENST00000517713.1_Missense_Mutation_p.M604I|COL13A1_ENST00000398971.3_Missense_Mutation_p.M638I|COL13A1_ENST00000356340.3_Missense_Mutation_p.M653I|COL13A1_ENST00000522165.1_Missense_Mutation_p.M622I|COL13A1_ENST00000398974.3_Missense_Mutation_p.M641I|COL13A1_ENST00000357811.3_Missense_Mutation_p.M619I|COL13A1_ENST00000520267.1_Missense_Mutation_p.M581I|COL13A1_ENST00000398973.3_Missense_Mutation_p.M627I|COL13A1_ENST00000520133.1_Missense_Mutation_p.M575I|COL13A1_ENST00000398964.3_Missense_Mutation_p.M624I	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						ACCCTGGGATGACAGGACCAA	0.542																																						dbGAP											0													48.0	55.0	53.0					10																	71705450		1972	4160	6132	-	-	-	SO:0001583	missense	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1959G>A	10.37:g.71705450G>A	ENSP00000381949:p.Met653Ile			Missense_Mutation	SNP	pfam_Collagen	p.M653I	ENST00000398978.3	37	c.1959	CCDS44419.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.18|11.18	1.562314|1.562314	0.27915|0.27915	.|.	.|.	ENSG00000197467|ENSG00000197467	ENST00000456019|ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.94092	.|-3.35;-3.17;-3.35;-3.35;-3.35;-3.17;-3.35;-3.17;-3.35;-3.35;-3.35;-3.35;-3.17;-3.35;-3.35;-3.35	5.39|5.39	2.46|2.46	0.29980|0.29980	.|.	.|0.458104	.|0.23874	.|N	.|0.043709	D|D	0.82618|0.82618	0.5076|0.5076	N|N	0.17838|0.17838	0.53|0.53	0.23943|0.23943	N|N	0.996396|0.996396	.|B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.12630	.|0.0;0.006;0.0;0.0;0.004;0.0;0.0;0.001;0.006;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.004	.|B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.12837	.|0.0;0.006;0.0;0.0;0.008;0.0;0.0;0.002;0.003;0.0;0.001;0.0;0.0;0.004;0.0;0.0;0.0;0.003	T|T	0.65656|0.65656	-0.6115|-0.6115	5|10	.|0.21014	.|T	.|0.42	0.0061|0.0061	1.0017|1.0017	0.01479|0.01479	0.1817:0.1642:0.3824:0.2718|0.1817:0.1642:0.3824:0.2718	.|.	.|581;653;638;639;627;631;634;639;641;638;575;619;604;627;622;631;624;653	.|B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	.|.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N|I	110|641;638;634;631;624;581;653;639;627;653;631;619;581;604;622;575	.|ENSP00000381946:M641I;ENSP00000381943:M638I;ENSP00000381940:M634I;ENSP00000381938:M631I;ENSP00000381936:M624I;ENSP00000381941:M581I;ENSP00000348695:M653I;ENSP00000381944:M639I;ENSP00000381945:M627I;ENSP00000381949:M653I;ENSP00000346553:M631I;ENSP00000350463:M619I;ENSP00000428057:M581I;ENSP00000430061:M604I;ENSP00000428342:M622I;ENSP00000430173:M575I	.|ENSP00000346553:M631I	D|M	+|+	1|3	0|0	COL13A1|COL13A1	71375456|71375456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.375000|1.375000	0.34295|0.34295	0.679000|0.679000	0.31345|0.31345	-0.142000|-0.142000	0.14014|0.14014	GAC|ATG	COL13A1	-	pfam_Collagen	ENSG00000197467		0.542	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	48	0.00	0	G	NM_005203		71705450	71705450	+1	no_errors	ENST00000356340	ensembl	human	known	69_37n	missense	33	34.00	17	SNP	0.992	A
COL22A1	169044	genome.wustl.edu	37	8	139614391	139614391	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:139614391C>G	ENST00000303045.6	-	60	4598	c.4152G>C	c.(4150-4152)ggG>ggC	p.G1384G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1364G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1384	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTCCAGGCTTCCCAGGGACCC	0.572										HNSCC(7;0.00092)																												dbGAP											0													124.0	102.0	110.0					8																	139614391		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4152G>C	8.37:g.139614391C>G			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G1384	ENST00000303045.6	37	c.4152	CCDS6376.1	8																																																																																			COL22A1	-	pfam_Collagen	ENSG00000169436		0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	109	0.00	0	C	XM_291257		139614391	139614391	-1	no_errors	ENST00000303045	ensembl	human	known	69_37n	silent	40	39.39	26	SNP	1.000	G
COL5A1	1289	genome.wustl.edu	37	9	137702139	137702139	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:137702139G>C	ENST00000371817.3	+	44	3927	c.3513G>C	c.(3511-3513)ggG>ggC	p.G1171G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1171	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAAGCAAGGGGGACAAAGGAG	0.622																																						dbGAP											0													63.0	80.0	74.0					9																	137702139		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3513G>C	9.37:g.137702139G>C			Q15094|Q5SUX4	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.G1171	ENST00000371817.3	37	c.3513	CCDS6982.1	9																																																																																			COL5A1	-	NULL	ENSG00000130635		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	9	0.00	0	G	NM_000093		137702139	137702139	+1	no_errors	ENST00000371817	ensembl	human	known	69_37n	silent	20	37.50	12	SNP	0.259	C
COL5A2	1290	genome.wustl.edu	37	2	189910542	189910542	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:189910542C>G	ENST00000374866.3	-	46	3567	c.3293G>C	c.(3292-3294)gGa>gCa	p.G1098A		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1098					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTCTTTGTCCTGCATCTCC	0.537																																						dbGAP											0													89.0	82.0	84.0					2																	189910542		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3293G>C	2.37:g.189910542C>G	ENSP00000364000:p.Gly1098Ala		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G1098A	ENST00000374866.3	37	c.3293	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112446	0.77210	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99607	-6.27	5.21	5.21	0.72293	.	0.000000	0.49916	D	0.000134	D	0.99849	0.9930	H	0.99104	4.43	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.91635	0.995;0.999	D	0.96526	0.9389	10	0.87932	D	0	.	18.9674	0.92701	0.0:1.0:0.0:0.0	.	738;1098	Q5PR22;P05997	.;CO5A2_HUMAN	A	1098;738	ENSP00000364000:G1098A	ENSP00000364000:G1098A	G	-	2	0	COL5A2	189618787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.720000	0.93068	0.650000	0.86243	GGA	COL5A2	-	NULL	ENSG00000204262		0.537	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	64	0.00	0	C	NM_000393		189910542	189910542	-1	no_errors	ENST00000374866	ensembl	human	known	69_37n	missense	32	25.58	11	SNP	1.000	G
COL6A2	1292	genome.wustl.edu	37	21	47546424	47546424	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr21:47546424G>C	ENST00000300527.4	+	27	2534	c.2430G>C	c.(2428-2430)caG>caC	p.Q810H	COL6A2_ENST00000397763.1_Missense_Mutation_p.Q810H|COL6A2_ENST00000310645.5_Missense_Mutation_p.Q810H|COL6A2_ENST00000357838.4_Missense_Mutation_p.Q810H|COL6A2_ENST00000409416.1_Missense_Mutation_p.Q810H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	810	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGACCCTCAGATCGTGTGCC	0.627																																						dbGAP											0													79.0	77.0	78.0					21																	47546424		2203	4300	6503	-	-	-	SO:0001583	missense	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2430G>C	21.37:g.47546424G>C	ENSP00000300527:p.Gln810His		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.Q810H	ENST00000300527.4	37	c.2430	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573854	0.28092	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;D;D;D;D	0.90133	-1.13;-2.58;-2.62;-2.62;-2.58	3.91	3.91	0.45181	.	0.229843	0.36740	U	0.002422	D	0.86104	0.5853	N	0.24115	0.695	0.43489	D	0.995725	B;P;P	0.47677	0.24;0.899;0.899	B;P;P	0.45138	0.155;0.471;0.471	D	0.86942	0.2080	10	0.44086	T	0.13	-16.0231	15.897	0.79341	0.0:0.0:1.0:0.0	.	810;810;810	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	810	ENSP00000300527:Q810H;ENSP00000350497:Q810H;ENSP00000312529:Q810H;ENSP00000387115:Q810H;ENSP00000380870:Q810H	ENSP00000300527:Q810H	Q	+	3	2	COL6A2	46370852	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.066000	0.57520	1.702000	0.51228	0.491000	0.48974	CAG	COL6A2	-	NULL	ENSG00000142173		0.627	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	16	0.00	0	G			47546424	47546424	+1	no_errors	ENST00000300527	ensembl	human	known	69_37n	missense	5	80.77	21	SNP	1.000	C
COL6A3	1293	genome.wustl.edu	37	2	238285970	238285970	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:238285970G>A	ENST00000295550.4	-	7	2967	c.2515C>T	c.(2515-2517)Ctg>Ttg	p.L839L	COL6A3_ENST00000353578.4_Silent_p.L633L|COL6A3_ENST00000392003.2_Silent_p.L432L|COL6A3_ENST00000347401.3_Silent_p.L638L|COL6A3_ENST00000346358.4_Silent_p.L639L|COL6A3_ENST00000409809.1_Silent_p.L633L|COL6A3_ENST00000472056.1_Silent_p.L232L|COL6A3_ENST00000392004.3_Silent_p.L633L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	839	Nonhelical region.|VWFA 5. {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)		AAGAGGAACAGAATGTCTCGC	0.488																																						dbGAP											0													88.0	91.0	90.0					2																	238285970		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.2515C>T	2.37:g.238285970G>A			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	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.L839	ENST00000295550.4	37	c.2515	CCDS33412.1	2																																																																																			COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.488	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	55	0.00	0	G	NM_004369		238285970	238285970	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	silent	8	60.00	12	SNP	0.981	A
COL6A5	256076	genome.wustl.edu	37	3	130095171	130095171	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:130095171C>G	ENST00000432398.2	+	3	653	c.159C>G	c.(157-159)atC>atG	p.I53M	COL6A5_ENST00000265379.6_Missense_Mutation_p.I53M	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	53	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAACGTTCATCAACAAAATGA	0.498																																						dbGAP											0													115.0	94.0	101.0					3																	130095171		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.159C>G	3.37:g.130095171C>G	ENSP00000390895:p.Ile53Met		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.I53M	ENST00000432398.2	37	c.159		3	.	.	.	.	.	.	.	.	.	.	C	6.124	0.391075	0.11581	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.85339	-1.97;-1.97	5.14	-0.208	0.13185	.	.	.	.	.	D	0.85401	0.5688	L	0.53249	1.67	0.09310	N	0.999997	D	0.55800	0.973	P	0.61592	0.891	T	0.72606	-0.4242	9	0.44086	T	0.13	.	2.1038	0.03686	0.128:0.38:0.2822:0.2097	.	53	A8TX70-2	.	M	53	ENSP00000390895:I53M;ENSP00000265379:I53M	ENSP00000265379:I53M	I	+	3	3	COL6A5	131577861	0.000000	0.05858	0.167000	0.22817	0.001000	0.01503	-0.724000	0.04947	0.245000	0.21373	-0.252000	0.11476	ATC	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.498	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		77	0.00	0	C	NM_153264		130095171	130095171	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	83	29.06	34	SNP	0.128	G
COMMD4	54939	genome.wustl.edu	37	15	75631366	75631366	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:75631366C>A	ENST00000267935.8	+	5	421	c.222C>A	c.(220-222)ttC>ttA	p.F74L	COMMD4_ENST00000338995.6_Missense_Mutation_p.F74L|COMMD4_ENST00000567195.1_Missense_Mutation_p.F74L|COMMD4_ENST00000564815.1_Missense_Mutation_p.F52L|COMMD4_ENST00000562789.1_Missense_Mutation_p.F80L	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	74						cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						TGCTGAGTTTCATCCTCTCCA	0.627																																						dbGAP											0													96.0	77.0	84.0					15																	75631366		2197	4294	6491	-	-	-	SO:0001583	missense	0			AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.222C>A	15.37:g.75631366C>A	ENSP00000267935:p.Phe74Leu		B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	pfam_HCaRG	p.F74L	ENST00000267935.8	37	c.222	CCDS10277.1	15	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130935	0.77549	.	.	ENSG00000140365	ENST00000267935;ENST00000338995	T;T	0.10192	2.9;2.9	5.03	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	M	0.80982	2.52	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.19224	-1.0312	10	0.14252	T	0.57	.	9.1448	0.36925	0.0:0.7482:0.0:0.2518	.	74;74	Q9H0A8-2;Q9H0A8	.;COMD4_HUMAN	L	74	ENSP00000267935:F74L;ENSP00000340867:F74L	ENSP00000267935:F74L	F	+	3	2	COMMD4	73418419	0.999000	0.42202	0.998000	0.56505	0.969000	0.65631	0.661000	0.25023	0.494000	0.27859	0.597000	0.82753	TTC	COMMD4	-	pfam_HCaRG	ENSG00000140365		0.627	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD4	HGNC	protein_coding	OTTHUMT00000286414.1	73	0.00	0	C	NM_017828		75631366	75631366	+1	no_errors	ENST00000267935	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	A
COQ9	57017	genome.wustl.edu	37	16	57490419	57490419	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:57490419C>T	ENST00000262507.6	+	4	451	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	COQ9_ENST00000567072.1_Silent_p.L128L|COQ9_ENST00000567933.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	128					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.L128L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TTTGTAGTCTCTGGGTCTCTC	0.517																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											120.0	107.0	111.0					16																	57490419		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.382C>T	16.37:g.57490419C>T			A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Silent	SNP	pfam_COQ9,superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9	p.L128	ENST00000262507.6	37	c.382	CCDS32459.1	16																																																																																			COQ9	-	superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9	ENSG00000088682		0.517	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ9	HGNC	protein_coding	OTTHUMT00000432598.3	162	0.00	0	C	NM_020312		57490419	57490419	+1	no_errors	ENST00000262507	ensembl	human	known	69_37n	silent	73	31.78	34	SNP	1.000	T
COX15	1355	genome.wustl.edu	37	10	101483766	101483766	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:101483766G>A	ENST00000016171.5	-	5	747	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F	COX15_ENST00000370483.5_Missense_Mutation_p.L233F|CUTC_ENST00000493385.1_Intron			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	233					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GCACAATAAAGAACCAGGGCT	0.502																																						dbGAP											0													134.0	132.0	133.0					10																	101483766		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.697C>T	10.37:g.101483766G>A	ENSP00000016171:p.Leu233Phe		A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	pfam_HemeA_syn,superfamily_Pept_cys/ser_Trypsin-like	p.L233F	ENST00000016171.5	37	c.697	CCDS7482.1	10	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669312	0.47677	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.85339	-1.97;-1.97	4.75	2.86	0.33363	.	0.000000	0.85682	D	0.000000	D	0.84804	0.5553	M	0.79123	2.44	0.80722	D	1	P;B	0.39424	0.673;0.245	B;B	0.41202	0.331;0.35	D	0.85071	0.0940	10	0.62326	D	0.03	-6.8323	10.2307	0.43253	0.1617:0.0:0.8383:0.0	.	233;233	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	F	233	ENSP00000359514:L233F;ENSP00000016171:L233F	ENSP00000016171:L233F	L	-	1	0	COX15	101473756	1.000000	0.71417	0.993000	0.49108	0.449000	0.32228	5.145000	0.64839	1.119000	0.41883	0.563000	0.77884	CTT	COX15	-	pfam_HemeA_syn	ENSG00000014919		0.502	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX15	HGNC	protein_coding	OTTHUMT00000049818.1	71	0.00	0	G	NP_510870		101483766	101483766	-1	no_errors	ENST00000016171	ensembl	human	known	69_37n	missense	56	28.21	22	SNP	1.000	A
CPEB1	64506	genome.wustl.edu	37	15	83218294	83218294	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:83218294C>G	ENST00000562019.1	-	9	1646	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	CPEB1_ENST00000261723.6_Missense_Mutation_p.E442Q|CPEB1_ENST00000568128.1_Missense_Mutation_p.E439Q|CPEB1_ENST00000450751.2_Missense_Mutation_p.E364Q|CPEB1_ENST00000564522.1_Missense_Mutation_p.E364Q|CPEB1_ENST00000398592.2_Missense_Mutation_p.E213Q|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000563800.1_Missense_Mutation_p.E466Q|RP11-152F13.10_ENST00000562833.1_Silent_p.L173L|CPEB1_ENST00000423133.2_Missense_Mutation_p.E364Q|CPEB1_ENST00000398591.2_Missense_Mutation_p.E369Q|CPEB1_ENST00000568757.1_Missense_Mutation_p.E364Q			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	444	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCCAGGGCCTCAGCATTTAGC	0.527																																						dbGAP											0													86.0	84.0	85.0					15																	83218294		2037	4182	6219	-	-	-	SO:0001583	missense	0			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1330G>C	15.37:g.83218294C>G	ENSP00000457836:p.Glu444Gln		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	pfscan_RRM_dom	p.E444Q	ENST00000562019.1	37	c.1330		15	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741750	0.89573	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	6.02	6.02	0.97574	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	U	0.000000	T	0.42921	0.1224	L	0.43598	1.365	0.80722	D	1	P;P;B;P	0.51537	0.946;0.946;0.104;0.946	P;P;B;P	0.52672	0.637;0.706;0.237;0.706	T	0.02713	-1.1120	10	0.39692	T	0.17	-13.7543	20.5407	0.99260	0.0:1.0:0.0:0.0	.	442;439;444;439	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	Q	439;439;364;369;442;213	ENSP00000397526:E364Q;ENSP00000381591:E369Q;ENSP00000261723:E442Q;ENSP00000381592:E213Q	ENSP00000261723:E442Q	E	-	1	0	CPEB1	81015349	1.000000	0.71417	0.980000	0.43619	0.971000	0.66376	7.760000	0.85248	2.865000	0.98341	0.655000	0.94253	GAG	CPEB1	-	pfscan_RRM_dom	ENSG00000214575		0.527	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	CPEB1	HGNC	protein_coding	OTTHUMT00000421102.1	47	0.00	0	C	NM_030594		83218294	83218294	-1	no_errors	ENST00000562019	ensembl	human	known	69_37n	missense	49	10.91	6	SNP	1.000	G
CPED1	79974	genome.wustl.edu	37	7	120737824	120737824	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:120737824C>T	ENST00000310396.5	+	6	1155	c.688C>T	c.(688-690)Cac>Tac	p.H230Y	CPED1_ENST00000450913.2_Missense_Mutation_p.H230Y|CPED1_ENST00000423795.1_Missense_Mutation_p.H10Y	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	230						endoplasmic reticulum (GO:0005783)											TACTTCGAGTCACCTTTTAAA	0.443																																						dbGAP											0													130.0	127.0	128.0					7																	120737824		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.688C>T	7.37:g.120737824C>T	ENSP00000309772:p.His230Tyr		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.H230Y	ENST00000310396.5	37	c.688	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470046	0.84533	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.45668	2.21;0.89;1.88;1.83;1.41	5.75	5.75	0.90469	.	0.174961	0.47852	D	0.000202	T	0.62551	0.2437	M	0.72118	2.19	0.80722	D	1	D;D;D	0.71674	0.998;0.969;0.977	D;P;P	0.80764	0.994;0.698;0.551	T	0.57700	-0.7766	10	0.30078	T	0.28	-6.3623	15.4536	0.75297	0.0:1.0:0.0:0.0	.	10;230;230	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	Y	230;230;230;10;10	ENSP00000309772:H230Y;ENSP00000398082:H230Y;ENSP00000406122:H230Y;ENSP00000415573:H10Y;ENSP00000391952:H10Y	ENSP00000309772:H230Y	H	+	1	0	C7orf58	120525060	0.426000	0.25506	0.996000	0.52242	0.866000	0.49608	0.790000	0.26900	2.710000	0.92621	0.557000	0.71058	CAC	CPED1	-	NULL	ENSG00000106034		0.443	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	59	0.00	0	C	NM_024913		120737824	120737824	+1	no_errors	ENST00000310396	ensembl	human	known	69_37n	missense	48	46.07	41	SNP	0.981	T
CPED1	79974	genome.wustl.edu	37	7	120935667	120935667	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:120935667C>G	ENST00000310396.5	+	23	3509	c.3042C>G	c.(3040-3042)atC>atG	p.I1014M		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	1014						endoplasmic reticulum (GO:0005783)											GTTCTGAAATCCTTCTCAGCA	0.443																																						dbGAP											0													103.0	96.0	99.0					7																	120935667		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.3042C>G	7.37:g.120935667C>G	ENSP00000309772:p.Ile1014Met		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.I1014M	ENST00000310396.5	37	c.3042	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378376	0.61735	.	.	ENSG00000106034	ENST00000310396	T	0.20332	2.08	5.65	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11494	-1.0585	10	0.87932	D	0	.	5.7835	0.18320	0.1285:0.5974:0.0:0.2741	.	1014	A4D0V7	CG058_HUMAN	M	1014	ENSP00000309772:I1014M	ENSP00000309772:I1014M	I	+	3	3	C7orf58	120722903	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.427000	0.21379	0.863000	0.35553	0.655000	0.94253	ATC	CPED1	-	NULL	ENSG00000106034		0.443	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	43	0.00	0	C	NM_024913		120935667	120935667	+1	no_errors	ENST00000310396	ensembl	human	known	69_37n	missense	23	42.50	17	SNP	1.000	G
CRISP1	167	genome.wustl.edu	37	6	49819840	49819840	+	Silent	SNP	C	C	T	rs138699394		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:49819840C>T	ENST00000335847.4	-	3	170	c.69G>A	c.(67-69)aaG>aaA	p.K23K	CRISP1_ENST00000505118.1_Silent_p.K23K|CRISP1_ENST00000329411.5_Silent_p.K23K|CRISP1_ENST00000355791.2_Silent_p.K23K|CRISP1_ENST00000507853.1_Silent_p.K23K|CRISP1_ENST00000536021.1_Silent_p.K23K	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	23					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TAGCTGATTTCTTCTGTTACC	0.333																																						dbGAP											0													136.0	138.0	137.0					6																	49819840		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.69G>A	6.37:g.49819840C>T			B5BU98|O00698|Q13248|Q14082|Q96SF6	Silent	SNP	pfam_Cysteine_rich_secretory,pfam_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.K23	ENST00000335847.4	37	c.69	CCDS4931.1	6																																																																																			CRISP1	-	NULL	ENSG00000124812		0.333	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP1	HGNC	protein_coding	OTTHUMT00000040875.2	155	0.00	0	C	NM_001131		49819840	49819840	-1	no_errors	ENST00000335847	ensembl	human	known	69_37n	silent	59	48.70	56	SNP	0.001	T
CRYGD	1421	genome.wustl.edu	37	2	208986459	208986459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:208986459G>A	ENST00000264376.4	-	3	490	c.463C>T	c.(463-465)Cag>Tag	p.Q155*		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	155	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CCCCAGTCCTGGTAGCGCCTA	0.537																																						dbGAP											0													65.0	63.0	63.0					2																	208986459		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.463C>T	2.37:g.208986459G>A	ENSP00000264376:p.Gln155*		Q17RF7|Q53R51|Q99681	Nonsense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	p.Q155*	ENST00000264376.4	37	c.463	CCDS2378.1	2	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304977	0.40795	.	.	ENSG00000118231	ENST00000264376	.	.	.	4.25	3.37	0.38596	.	0.622737	0.17134	N	0.185716	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	5.1906	0.15207	0.1054:0.0:0.6921:0.2025	.	.	.	.	X	155	.	ENSP00000264376:Q155X	Q	-	1	0	CRYGD	208694704	0.002000	0.14202	0.188000	0.23233	0.663000	0.39108	0.579000	0.23788	1.007000	0.39238	0.555000	0.69702	CAG	CRYGD	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000118231		0.537	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGD	HGNC	protein_coding	OTTHUMT00000256476.2	21	0.00	0	G	NM_006891		208986459	208986459	-1	no_errors	ENST00000264376	ensembl	human	known	69_37n	nonsense	27	34.15	14	SNP	0.005	A
CSF3R	1441	genome.wustl.edu	37	1	36932330	36932330	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:36932330G>C	ENST00000373106.1	-	17	2686	c.2139C>G	c.(2137-2139)aaC>aaG	p.N713K	CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Missense_Mutation_p.N713K|CSF3R_ENST00000373104.1_Missense_Mutation_p.N713K|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000331941.5_Missense_Mutation_p.N713K|CSF3R_ENST00000373103.1_Missense_Mutation_p.N740K|CSF3R_ENST00000338937.5_Missense_Mutation_p.T682R|CSF3R_ENST00000440588.2_Missense_Mutation_p.N740K|CSF3R_ENST00000361632.4_Missense_Mutation_p.N713K	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	713					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCTCTGAGCTGTTATGGGACT	0.617																																						dbGAP											0													74.0	80.0	78.0					1																	36932330		2203	4300	6503	-	-	-	SO:0001583	missense	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2139C>G	1.37:g.36932330G>C	ENSP00000362198:p.Asn713Lys			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.N740K	ENST00000373106.1	37	c.2220	CCDS413.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.713|0.713	-0.786580|-0.786580	0.02907|0.02907	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000440588|ENST00000464465;ENST00000338937	T;T;T;T;T;T;T|T	0.47528|0.32515	0.97;0.84;0.86;0.97;0.84;0.97;0.86|1.45	5.48|5.48	-0.133|-0.133	0.13485|0.13485	.|.	1.419220|.	0.04497|.	N|.	0.380522|.	T|T	0.18593|0.18593	0.0446|0.0446	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B|B	0.22480|0.12630	0.001;0.002;0.001;0.07|0.006	B;B;B;B|B	0.18871|0.10450	0.002;0.006;0.002;0.023|0.005	T|T	0.24404|0.24404	-1.0161|-1.0161	10|9	0.21540|0.62326	T|D	0.41|0.03	-7.3273|-7.3273	5.9887|5.9887	0.19448|0.19448	0.0786:0.4791:0.3142:0.1281|0.0786:0.4791:0.3142:0.1281	.|.	713;740;713;713|682	Q1ZYL6;Q99062-3;Q99062;Q99062-4|E1B6W6	.;.;CSF3R_HUMAN;.|.	K|R	713;713;740;713;713;713;740|265;682	ENSP00000362198:N713K;ENSP00000362196:N713K;ENSP00000362195:N740K;ENSP00000355406:N713K;ENSP00000332180:N713K;ENSP00000401588:N713K;ENSP00000397568:N740K|ENSP00000345013:T682R	ENSP00000332180:N713K|ENSP00000345013:T682R	N|T	-|-	3|2	2|0	CSF3R|CSF3R	36704917|36704917	0.001000|0.001000	0.12720|0.12720	0.033000|0.033000	0.17914|0.17914	0.033000|0.033000	0.12548|0.12548	0.233000|0.233000	0.17911|0.17911	0.072000|0.072000	0.16694|0.16694	0.655000|0.655000	0.94253|0.94253	AAC|ACA	CSF3R	-	NULL	ENSG00000119535		0.617	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	50	0.00	0	G	NM_156039		36932330	36932330	-1	no_errors	ENST00000373103	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	0.002	C
CSMD1	64478	genome.wustl.edu	37	8	2975929	2975929	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:2975929C>T	ENST00000520002.1	-	43	6980	c.6425G>A	c.(6424-6426)aGa>aAa	p.R2142K	CSMD1_ENST00000542608.1_Missense_Mutation_p.R2141K|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2142K|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2142K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2141K|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2142K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2142	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R2141I(1)|p.R1870I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCATCACATCTTGGAAAAGG	0.378																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											109.0	103.0	105.0					8																	2975929		1974	4151	6125	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6425G>A	8.37:g.2975929C>T	ENSP00000430733:p.Arg2142Lys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R2142K	ENST00000520002.1	37	c.6425		8	.	.	.	.	.	.	.	.	.	.	C	8.170	0.791525	0.16258	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.85	4.85	0.62838	CUB (1);Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	N	0.21617	0.685	0.80722	D	1	D;B;B	0.54601	0.967;0.001;0.008	D;B;B	0.69307	0.963;0.052;0.024	T	0.54655	-0.8261	10	0.07813	T	0.8	.	12.7634	0.57378	0.0:0.9203:0.0:0.0797	.	2142;2142;2141	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	K	2142;2142;2003;2141;2141	ENSP00000383047:R2142K;ENSP00000430733:R2142K;ENSP00000441462:R2141K;ENSP00000446243:R2141K	ENSP00000320445:R2003K	R	-	2	0	CSMD1	2963336	1.000000	0.71417	0.949000	0.38748	0.151000	0.21798	3.755000	0.55197	2.378000	0.81104	0.563000	0.77884	AGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	47	0.00	0	C	NM_033225		2975929	2975929	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	42	40.00	28	SNP	0.633	T
CSMD1	64478	genome.wustl.edu	37	8	3224589	3224589	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:3224589G>A	ENST00000520002.1	-	21	3638	c.3083C>T	c.(3082-3084)tCa>tTa	p.S1028L	CSMD1_ENST00000539096.1_Missense_Mutation_p.S1027L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1027L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1028L|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1028L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1027L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1028L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1028	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTACGAAATTGAGAAGTCTGA	0.478																																						dbGAP											0													65.0	70.0	69.0					8																	3224589		1909	4125	6034	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3083C>T	8.37:g.3224589G>A	ENSP00000430733:p.Ser1028Leu		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S1028L	ENST00000520002.1	37	c.3083		8	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333980	0.81801	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.09	5.09	0.68999	CUB (5);	0.000000	0.64402	D	0.000001	T	0.58206	0.2106	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.964	D;D;P	0.97110	0.993;1.0;0.835	T	0.69907	-0.5018	10	0.66056	D	0.02	.	18.4811	0.90812	0.0:0.0:1.0:0.0	.	1028;1028;1028	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	L	1028;1028;890;1027;1027;1027	ENSP00000383047:S1028L;ENSP00000430733:S1028L;ENSP00000441462:S1027L;ENSP00000446243:S1027L;ENSP00000441675:S1027L	ENSP00000320445:S890L	S	-	2	0	CSMD1	3211996	1.000000	0.71417	0.528000	0.27938	0.456000	0.32438	9.632000	0.98428	2.366000	0.80165	0.455000	0.32223	TCA	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000183117		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	68	0.00	0	G	NM_033225		3224589	3224589	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	39	33.90	20	SNP	1.000	A
CSPP1	79848	genome.wustl.edu	37	8	68062107	68062107	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:68062107C>G	ENST00000262210.5	+	16	2081	c.2050C>G	c.(2050-2052)Cta>Gta	p.L684V	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	719					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTTGTATCTCTAGACCCAAA	0.333																																						dbGAP											0													206.0	205.0	205.0					8																	68062107		1860	4089	5949	-	-	-	SO:0001583	missense	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2050C>G	8.37:g.68062107C>G	ENSP00000262210:p.Leu684Val		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	NULL	p.L684V	ENST00000262210.5	37	c.2050	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840251	0.32513	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.74209	-0.82	5.96	4.02	0.46733	.	0.996520	0.08104	U	0.997261	T	0.61324	0.2338	L	0.29908	0.895	0.80722	D	1	B;B;B	0.27625	0.183;0.065;0.065	B;B;B	0.26770	0.071;0.073;0.073	T	0.44436	-0.9328	10	0.10902	T	0.67	-4.1639	9.4156	0.38519	0.1266:0.5607:0.3126:0.0	.	684;719;719	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	V	684;719	ENSP00000262210:L684V	ENSP00000262210:L684V	L	+	1	2	CSPP1	68224661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.682000	0.25335	1.469000	0.48083	0.650000	0.86243	CTA	CSPP1	-	NULL	ENSG00000104218		0.333	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	58	0.00	0	C	NM_024790		68062107	68062107	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	missense	61	34.41	32	SNP	1.000	G
CTNND1	1500	genome.wustl.edu	37	11	57564298	57564298	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:57564298C>T	ENST00000399050.4	+	6	1326	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000428599.2_Missense_Mutation_p.R264W|CTNND1_ENST00000399039.4_Missense_Mutation_p.R264W|CTNND1_ENST00000361796.4_Missense_Mutation_p.R264W|CTNND1_ENST00000426142.2_Missense_Mutation_p.R163W|CTNND1_ENST00000360682.6_Missense_Mutation_p.R264W|CTNND1_ENST00000528621.1_Missense_Mutation_p.R210W|CTNND1_ENST00000530094.1_Missense_Mutation_p.R163W|CTNND1_ENST00000524630.1_Missense_Mutation_p.R264W|CTNND1_ENST00000361332.4_Missense_Mutation_p.R264W|CTNND1_ENST00000526357.1_Missense_Mutation_p.R210W|CTNND1_ENST00000529919.1_Missense_Mutation_p.R264W|CTNND1_ENST00000532844.1_Missense_Mutation_p.R210W|CTNND1_ENST00000532649.1_Missense_Mutation_p.R210W|CTNND1_ENST00000532245.1_Missense_Mutation_p.R163W|CTNND1_ENST00000529986.1_Missense_Mutation_p.R163W|CTNND1_ENST00000526938.1_Missense_Mutation_p.R264W|CTNND1_ENST00000529873.1_Missense_Mutation_p.R210W|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.R264W|CTNND1_ENST00000534579.1_Missense_Mutation_p.R210W|CTNND1_ENST00000532463.1_Missense_Mutation_p.R163W|CTNND1_ENST00000530748.1_Missense_Mutation_p.R210W|CTNND1_ENST00000415361.2_Missense_Mutation_p.R163W|CTNND1_ENST00000532787.1_Missense_Mutation_p.R163W|CTNND1_ENST00000529526.1_Missense_Mutation_p.R210W|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000528232.1_Missense_Mutation_p.R163W|CTNND1_ENST00000358694.6_Missense_Mutation_p.R264W	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	264					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACCCCAGGTTCGGGTAGGTGG	0.577																																						dbGAP											0													139.0	145.0	143.0					11																	57564298		2087	4239	6326	-	-	-	SO:0001583	missense	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.790C>T	11.37:g.57564298C>T	ENSP00000382004:p.Arg264Trp		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R264W	ENST00000399050.4	37	c.790	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757678	0.69648	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000528232;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73047	-0.33;-0.33;-0.33;-0.71;-0.33;-0.34;-0.25;-0.35;-0.71;-0.34;-0.25;-0.25;-0.33;-0.59;-0.34;-0.34;-0.34;-0.33;-0.25;-0.71;-0.35;-0.35;-0.34;-0.34;-0.25;-0.34;-0.7;2.12	5.92	5.0	0.66597	Armadillo-like helical (1);	0.196102	0.45361	D	0.000364	T	0.77205	0.4096	L	0.40543	1.245	0.33993	D	0.649325	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.68765	0.96;0.96;0.913;0.96;0.96;0.933;0.96;0.913	D	0.84341	0.0527	10	0.66056	D	0.02	-13.9564	13.6498	0.62304	0.2818:0.7182:0.0:0.0	.	264;264;264;210;210;264;264;264	O60716-3;O60716-2;O60716;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.	W	264;264;264;264;264;210;163;264;264;264;163;163;264;163;210;210;210;264;163;210;210;210;163;163;163;210;264;186	ENSP00000436543:R264W;ENSP00000434808:R264W;ENSP00000381996:R264W;ENSP00000353902:R264W;ENSP00000354907:R264W;ENSP00000436323:R210W;ENSP00000409930:R163W;ENSP00000382004:R264W;ENSP00000354785:R264W;ENSP00000354823:R264W;ENSP00000432075:R163W;ENSP00000437156:R163W;ENSP00000351527:R264W;ENSP00000434949:R163W;ENSP00000435379:R210W;ENSP00000432243:R210W;ENSP00000436744:R210W;ENSP00000413586:R264W;ENSP00000435266:R163W;ENSP00000435494:R210W;ENSP00000433276:R210W;ENSP00000433334:R210W;ENSP00000437327:R163W;ENSP00000403518:R163W;ENSP00000434017:R163W;ENSP00000435789:R210W;ENSP00000432041:R264W;ENSP00000434202:R186W	ENSP00000351527:R264W	R	+	1	2	CTNND1	57320874	0.983000	0.35010	1.000000	0.80357	0.995000	0.86356	1.781000	0.38644	1.467000	0.48044	0.655000	0.94253	CGG	CTNND1	-	NULL	ENSG00000198561		0.577	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	36	0.00	0	C	NM_001331		57564298	57564298	+1	no_errors	ENST00000399050	ensembl	human	known	69_37n	missense	26	38.10	16	SNP	0.942	T
CTSV	1515	genome.wustl.edu	37	9	99795261	99795261	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:99795261G>A	ENST00000259470.5	-	8	1224	c.975C>T	c.(973-975)atC>atT	p.I325I	CTSV_ENST00000538255.1_Silent_p.I325I	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	325					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)	p.I325I(2)									CTGCTGTGGCGATTCCACAGT	0.473																																						dbGAP											2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)											142.0	118.0	126.0					9																	99795261		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.975C>T	9.37:g.99795261G>A			O60233|Q2TB86|Q5T1U0	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.I325	ENST00000259470.5	37	c.975	CCDS6723.1	9																																																																																			CTSL2	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000136943		0.473	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL2	HGNC	protein_coding	OTTHUMT00000053301.2	68	0.00	0	G	NM_001333		99795261	99795261	-1	no_errors	ENST00000259470	ensembl	human	known	69_37n	silent	79	34.71	42	SNP	0.991	A
CWH43	80157	genome.wustl.edu	37	4	48988454	48988454	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:48988454C>T	ENST00000226432.4	+	1	191	c.8C>T	c.(7-9)tCg>tTg	p.S3L	CWH43_ENST00000513409.1_5'Flank	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	3					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCGATGCCCTCGCTGTGGAGA	0.721																																						dbGAP											0													13.0	14.0	14.0					4																	48988454		2132	4174	6306	-	-	-	SO:0001583	missense	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.8C>T	4.37:g.48988454C>T	ENSP00000226432:p.Ser3Leu		B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.S3L	ENST00000226432.4	37	c.8	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080100	0.36662	.	.	ENSG00000109182	ENST00000226432	T	0.33654	1.4	3.07	1.24	0.21308	.	0.487970	0.16978	N	0.191801	T	0.18509	0.0444	L	0.27053	0.805	0.09310	N	0.999995	P	0.35700	0.516	B	0.28139	0.086	T	0.11060	-1.0603	9	.	.	.	.	6.2253	0.20703	0.0:0.6899:0.1986:0.1115	.	3	Q9H720	PG2IP_HUMAN	L	3	ENSP00000226432:S3L	.	S	+	2	0	CWH43	48683211	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	0.461000	0.21940	0.298000	0.22638	0.563000	0.77884	TCG	CWH43	-	NULL	ENSG00000109182		0.721	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	8	0.00	0	C	NM_025087		48988454	48988454	+1	no_errors	ENST00000226432	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	0.006	T
CWH43	80157	genome.wustl.edu	37	4	49009315	49009315	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:49009315C>T	ENST00000226432.4	+	8	1341	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	CWH43_ENST00000513409.1_Silent_p.F359F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	386					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AAGTGCTTTTCAGAAAGAGTG	0.269																																						dbGAP											0													69.0	68.0	68.0					4																	49009315		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1158C>T	4.37:g.49009315C>T			B2RPD7	Silent	SNP	superfamily_Endo/exonuclease/phosphatase	p.F386	ENST00000226432.4	37	c.1158	CCDS3486.1	4																																																																																			CWH43	-	NULL	ENSG00000109182		0.269	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	91	0.00	0	C	NM_025087		49009315	49009315	+1	no_errors	ENST00000226432	ensembl	human	known	69_37n	silent	67	39.09	43	SNP	0.993	T
CYP1A2	1544	genome.wustl.edu	37	15	75042574	75042574	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:75042574G>C	ENST00000343932.4	+	2	558	c.495G>C	c.(493-495)gtG>gtC	p.V165V		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	165					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	AGGAGCATGTGAGCAAGGAGG	0.622																																						dbGAP											0													130.0	115.0	120.0					15																	75042574		2197	4296	6493	-	-	-	SO:0001819	synonymous_variant	0			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.495G>C	15.37:g.75042574G>C			Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.V165	ENST00000343932.4	37	c.495	CCDS32293.1	15																																																																																			CYP1A2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000140505		0.622	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	HGNC	protein_coding	OTTHUMT00000421263.2	134	0.00	0	G	NM_000761		75042574	75042574	+1	no_errors	ENST00000343932	ensembl	human	known	69_37n	silent	40	34.43	21	SNP	0.989	C
CYP4A11	1579	genome.wustl.edu	37	1	47395897	47395897	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:47395897G>C	ENST00000310638.4	-	12	1481	c.1450C>G	c.(1450-1452)Ccc>Gcc	p.P484A	CYP4A11_ENST00000371904.4_Missense_Mutation_p.P485A|CYP4A11_ENST00000462347.1_Missense_Mutation_p.P386A	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	484					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	ATCCTGGTGGGATCAGGCAGC	0.562																																						dbGAP											0													127.0	114.0	118.0					1																	47395897		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1450C>G	1.37:g.47395897G>C	ENSP00000311095:p.Pro484Ala		Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.P485A	ENST00000310638.4	37	c.1453	CCDS543.1	1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438756	0.62955	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.70869	-0.52;-0.52	4.41	4.41	0.53225	.	0.291036	0.39083	N	0.001472	T	0.65502	0.2697	L	0.37697	1.125	0.80722	D	1	B	0.24132	0.098	B	0.35688	0.208	T	0.62426	-0.6857	10	0.30854	T	0.27	.	14.646	0.68762	0.0:0.1461:0.8538:0.0	.	484	Q02928	CP4AB_HUMAN	A	484;485	ENSP00000311095:P484A;ENSP00000360971:P485A	ENSP00000311095:P484A	P	-	1	0	CYP4A11	47168484	1.000000	0.71417	0.131000	0.22000	0.797000	0.45037	6.148000	0.71788	2.181000	0.69327	0.550000	0.68814	CCC	CYP4A11	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000187048		0.562	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	HGNC	protein_coding	OTTHUMT00000022022.1	134	0.00	0	G	NM_000778		47395897	47395897	-1	no_errors	ENST00000371904	ensembl	human	known	69_37n	missense	52	38.82	33	SNP	0.982	C
CYP4A11	1579	genome.wustl.edu	37	1	47398430	47398430	+	Intron	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:47398430C>G	ENST00000310638.4	-	11	1396				CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371904.4_Intron|CYP4A11_ENST00000462347.1_Intron|CYP4A11_ENST00000371905.1_Nonstop_Mutation_p.*456S	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11						arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CAGGACGTCTCACCTTGATCC	0.517																																						dbGAP											0													241.0	250.0	247.0					1																	47398430		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1364+2G>C	1.37:g.47398430C>G			Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Nonstop_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.*456S	ENST00000310638.4	37	c.1367	CCDS543.1	1	.	.	.	.	.	.	.	.	.	.	N	9.662	1.144367	0.21205	.	.	ENSG00000187048	ENST00000371905	.	.	.	5.11	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3658	0.21453	0.1483:0.6869:0.0:0.1647	.	.	.	.	S	456	.	.	X	-	2	2	CYP4A11	47171017	0.015000	0.18098	0.997000	0.53966	0.331000	0.28603	-0.043000	0.12043	1.300000	0.44818	0.650000	0.86243	TGA	CYP4A11	-	NULL	ENSG00000187048		0.517	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	HGNC	protein_coding	OTTHUMT00000022022.1	157	0.00	0	C	NM_000778		47398430	47398430	-1	no_errors	ENST00000371905	ensembl	human	known	69_37n	nonstop	97	34.01	50	SNP	0.981	G
CYP4F3	4051	genome.wustl.edu	37	19	15770099	15770099	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:15770099C>G	ENST00000221307.8	+	13	1514	c.1467C>G	c.(1465-1467)ttC>ttG	p.F489L	CYP4F3_ENST00000585846.1_Missense_Mutation_p.F489L|CYP4F3_ENST00000591058.1_Missense_Mutation_p.F489L|CYP4F3_ENST00000586182.2_Missense_Mutation_p.F489L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	489					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGCTGCGCTTCCGCGTCCTGC	0.672																																						dbGAP											0													27.0	28.0	28.0					19																	15770099		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1467C>G	19.37:g.15770099C>G	ENSP00000221307:p.Phe489Leu		B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F489L	ENST00000221307.8	37	c.1467	CCDS12332.1	19	.	.	.	.	.	.	.	.	.	.	.	15.42	2.829781	0.50845	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	D	0.84730	-1.89	3.48	3.48	0.39840	.	0.000000	0.64402	U	0.000002	D	0.90786	0.7107	M	0.83312	2.635	0.53005	D	0.999961	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.986;0.996;0.996	D	0.90454	0.4441	10	0.87932	D	0	.	6.5807	0.22591	0.0:0.8687:0.0:0.1313	.	199;489;489	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	L	416;489	ENSP00000221307:F489L	ENSP00000221307:F489L	F	+	3	2	CYP4F3	15631099	0.534000	0.26362	0.991000	0.47740	0.367000	0.29736	0.279000	0.18771	1.773000	0.52216	0.305000	0.20034	TTC	CYP4F3	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000186529		0.672	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP4F3	HGNC	protein_coding	OTTHUMT00000460819.3	29	0.00	0	C	NM_000896		15770099	15770099	+1	no_errors	ENST00000221307	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	0.977	G
CYR61	3491	genome.wustl.edu	37	1	86048233	86048233	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:86048233G>C	ENST00000451137.2	+	4	993	c.769G>C	c.(769-771)Gag>Cag	p.E257Q		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	257	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TGACAACCCTGAGTGCCGCCT	0.493											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													76.0	70.0	72.0					1																	86048233		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.769G>C	1.37:g.86048233G>C	ENSP00000398736:p.Glu257Gln	1241	O14934|O43775|Q9BZL7	Missense_Mutation	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.E257Q	ENST00000451137.2	37	c.769	CCDS706.1	1	.	.	.	.	.	.	.	.	.	.	G	7.315	0.615771	0.14129	.	.	ENSG00000142871	ENST00000451137;ENST00000536321;ENST00000360431	T	0.51071	0.72	5.81	4.85	0.62838	.	0.229089	0.51477	D	0.000081	T	0.08758	0.0217	N	0.04387	-0.21	0.41657	D	0.989167	B	0.09022	0.002	B	0.15870	0.014	T	0.23368	-1.0190	10	0.06099	T	0.92	-11.0542	9.1526	0.36973	0.1392:0.1394:0.7214:0.0	.	257	O00622	CYR61_HUMAN	Q	257;233;257	ENSP00000398736:E257Q	ENSP00000353612:E257Q	E	+	1	0	CYR61	85820821	1.000000	0.71417	0.965000	0.40720	0.934000	0.57294	5.730000	0.68546	2.746000	0.94184	0.655000	0.94253	GAG	CYR61	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt	ENSG00000142871		0.493	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYR61	HGNC	protein_coding	OTTHUMT00000029187.1	43	0.00	0	G	NM_001554		86048233	86048233	+1	no_errors	ENST00000451137	ensembl	human	known	69_37n	missense	36	38.98	23	SNP	0.973	C
DAAM1	23002	genome.wustl.edu	37	14	59830428	59830428	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:59830428C>T	ENST00000395125.1	+	23	2807	c.2784C>T	c.(2782-2784)gtC>gtT	p.V928V	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Silent_p.V918V|DAAM1_ENST00000351081.1_Silent_p.V928V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	928	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGTCTGTTGTCAGCCAGTTCA	0.463																																						dbGAP											0													130.0	117.0	122.0					14																	59830428		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2784C>T	14.37:g.59830428C>T			Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.V928	ENST00000395125.1	37	c.2784	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466319	0.26335	.	.	ENSG00000100592	ENST00000358498	.	.	.	5.8	3.93	0.45458	.	.	.	.	.	T	0.59293	0.2183	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55276	-0.8166	5	0.27082	T	0.32	.	11.9112	0.52739	0.0:0.8121:0.1214:0.0665	.	.	.	.	L	877	.	ENSP00000351287:S877L	S	+	2	0	DAAM1	58900181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.889000	0.48601	1.430000	0.47334	0.563000	0.77884	TCA	DAAM1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000100592		0.463	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	151	0.00	0	C	NM_014992		59830428	59830428	+1	no_errors	ENST00000351081	ensembl	human	known	69_37n	silent	58	38.30	36	SNP	1.000	T
DAG1	1605	genome.wustl.edu	37	3	49547891	49547891	+	5'UTR	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:49547891G>C	ENST00000539901.1	+	0	482				DAG1_ENST00000479935.1_3'UTR|DAG1_ENST00000308775.2_5'UTR|DAG1_ENST00000538711.1_5'UTR|DAG1_ENST00000541308.1_5'UTR|DAG1_ENST00000545947.1_5'UTR|DAG1_ENST00000515359.2_5'UTR	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)						basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGCAGAGGGTGAGAACCCAGC	0.498																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.-77G>C	3.37:g.49547891G>C			A8K6M7|Q969J9	RNA	SNP	-	NULL	ENST00000539901.1	37	NULL	CCDS2799.1	3																																																																																			DAG1	-	-	ENSG00000173402		0.498	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	17	0.00	0	G			49547891	49547891	+1	no_errors	ENST00000466701	ensembl	human	known	69_37n	rna	12	47.83	11	SNP	1.000	C
DBH	1621	genome.wustl.edu	37	9	136507373	136507373	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:136507373C>T	ENST00000393056.2	+	3	543	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	177					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	AGGAGCCGTTCCGGTCACTGG	0.647																																						dbGAP											0													37.0	40.0	39.0					9																	136507373		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.531C>T	9.37:g.136507373C>T			Q5T381|Q96AG2	Silent	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.F177	ENST00000393056.2	37	c.531	CCDS6977.2	9																																																																																			DBH	-	smart_DOMON_domain	ENSG00000123454		0.647	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	20	0.00	0	C	NM_000787		136507373	136507373	+1	no_errors	ENST00000393056	ensembl	human	known	69_37n	silent	13	35.00	7	SNP	0.000	T
DCAF6	55827	genome.wustl.edu	37	1	167973911	167973911	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:167973911C>G	ENST00000312263.6	+	10	1462	c.1258C>G	c.(1258-1260)Cag>Gag	p.Q420E	DCAF6_ENST00000367843.3_Missense_Mutation_p.Q420E|DCAF6_ENST00000432587.2_Missense_Mutation_p.Q389E|DCAF6_ENST00000367840.3_Missense_Mutation_p.Q420E	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	420					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						aatgtcagctcaggctcaTTC	0.458																																						dbGAP											0													97.0	88.0	91.0					1																	167973911		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1258C>G	1.37:g.167973911C>G	ENSP00000311949:p.Gln420Glu		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.Q420E	ENST00000312263.6	37	c.1258	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114122	0.37339	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.80994	-1.44;0.34;-1.41;-1.4	5.17	5.17	0.71159	WD40 repeat-like-containing domain (1);	0.400112	0.26227	N	0.025590	T	0.54255	0.1847	L	0.29908	0.895	0.30245	N	0.794599	B;B;B;B	0.25850	0.034;0.136;0.049;0.001	B;B;B;B	0.26864	0.023;0.074;0.022;0.004	T	0.56372	-0.7990	9	0.05436	T	0.98	.	17.2269	0.86973	0.0:1.0:0.0:0.0	.	389;420;420;420	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	E	420;389;420;420	ENSP00000356817:Q420E;ENSP00000396238:Q389E;ENSP00000311949:Q420E;ENSP00000356814:Q420E	ENSP00000311949:Q420E	Q	+	1	0	DCAF6	166240535	1.000000	0.71417	0.607000	0.28956	0.979000	0.70002	5.214000	0.65236	2.552000	0.86080	0.555000	0.69702	CAG	DCAF6	-	superfamily_WD40_repeat_dom	ENSG00000143164		0.458	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	129	0.00	0	C	NM_018442		167973911	167973911	+1	no_errors	ENST00000367840	ensembl	human	known	69_37n	missense	108	26.03	38	SNP	0.997	G
DCTN4	51164	genome.wustl.edu	37	5	150095128	150095128	+	Splice_Site	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:150095128C>G	ENST00000447998.2	-	12	1283	c.1168G>C	c.(1168-1170)Gac>Cac	p.D390H	DCTN4_ENST00000446090.2_Splice_Site_p.D397H|DCTN4_ENST00000424236.1_Splice_Site_p.D333H	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	390					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCACTCACTCAGGATCGTCC	0.433																																						dbGAP											0													125.0	101.0	109.0					5																	150095128		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1169+1G>C	5.37:g.150095128C>G			B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	pfam_Dynactin_p62	p.D397H	ENST00000447998.2	37	c.1189	CCDS4310.1	5	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446889	0.63178	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	T;T;T	0.27256	1.68;1.68;1.68	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.87578	0.838;0.998	T	0.24225	-1.0166	10	0.52906	T	0.07	-15.8198	20.5632	0.99335	0.0:1.0:0.0:0.0	.	397;390	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	H	390;333;397	ENSP00000416968:D390H;ENSP00000411251:D333H;ENSP00000414906:D397H	ENSP00000411251:D333H	D	-	1	0	DCTN4	150075321	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.309000	0.78937	2.937000	0.99478	0.650000	0.86243	GAC	DCTN4	-	pfam_Dynactin_p62	ENSG00000132912		0.433	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCTN4	HGNC	protein_coding	OTTHUMT00000252372.1	62	0.00	0	C		Missense_Mutation	150095128	150095128	-1	no_errors	ENST00000446090	ensembl	human	known	69_37n	missense	49	35.90	28	SNP	1.000	G
DDX20	11218	genome.wustl.edu	37	1	112303409	112303409	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:112303409G>C	ENST00000369702.4	+	5	1382	c.762G>C	c.(760-762)ttG>ttC	p.L254F	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	254	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAATGCTTTGACAAAGTACA	0.368																																						dbGAP											0													135.0	134.0	134.0					1																	112303409		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.762G>C	1.37:g.112303409G>C	ENSP00000358716:p.Leu254Phe		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L254F	ENST00000369702.4	37	c.762	CCDS842.1	1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428358	0.62844	.	.	ENSG00000064703	ENST00000369702	T	0.05649	3.41	5.26	4.35	0.52113	DEAD-like helicase (2);	0.000000	0.64402	D	0.000001	T	0.14056	0.0340	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00804	-1.1559	10	0.62326	D	0.03	-8.6169	13.7403	0.62845	0.0752:0.0:0.9248:0.0	.	254	Q9UHI6	DDX20_HUMAN	F	254	ENSP00000358716:L254F	ENSP00000358716:L254F	L	+	3	2	DDX20	112104932	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.634000	0.46528	1.362000	0.46000	-0.339000	0.08088	TTG	DDX20	-	smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000064703		0.368	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX20	HGNC	protein_coding	OTTHUMT00000033063.2	79	0.00	0	G	NM_007204		112303409	112303409	+1	no_errors	ENST00000369702	ensembl	human	known	69_37n	missense	110	38.55	69	SNP	1.000	C
DDX24	57062	genome.wustl.edu	37	14	94545820	94545820	+	Missense_Mutation	SNP	C	C	G	rs550657596	byFrequency	TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:94545820C>G	ENST00000330836.5	-	2	400	c.269G>C	c.(268-270)gGa>gCa	p.G90A	IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|DDX24_ENST00000555054.1_Missense_Mutation_p.G47A|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	90					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCTAGACTTTCCCTCCTCCTC	0.443																																						dbGAP											0													172.0	167.0	168.0					14																	94545820		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.269G>C	14.37:g.94545820C>G	ENSP00000328690:p.Gly90Ala		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G90A	ENST00000330836.5	37	c.269	CCDS9918.1	14	.	.	.	.	.	.	.	.	.	.	C	3.569	-0.088094	0.07097	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.03124	4.05;4.04	6.05	2.88	0.33553	.	0.430687	0.29178	N	0.012909	T	0.03053	0.0090	L	0.47716	1.5	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46498	-0.9187	10	0.09590	T	0.72	-10.2834	4.5261	0.11981	0.0:0.5412:0.1928:0.2659	.	90	Q9GZR7	DDX24_HUMAN	A	90;90;47;47	ENSP00000328690:G90A;ENSP00000452145:G47A	ENSP00000328690:G90A	G	-	2	0	DDX24	93615573	0.990000	0.36364	0.577000	0.28562	0.928000	0.56348	2.488000	0.45276	0.883000	0.36040	0.650000	0.86243	GGA	DDX24	-	NULL	ENSG00000089737		0.443	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX24	HGNC	protein_coding	OTTHUMT00000412861.1	123	0.00	0	C	NM_020414		94545820	94545820	-1	no_errors	ENST00000330836	ensembl	human	known	69_37n	missense	196	42.65	148	SNP	0.007	G
DDX31	64794	genome.wustl.edu	37	9	135537890	135537890	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:135537890C>T	ENST00000372159.3	-	2	734	c.583G>A	c.(583-585)Gag>Aag	p.E195K	DDX31_ENST00000310532.2_Missense_Mutation_p.E195K|DDX31_ENST00000438527.3_Missense_Mutation_p.E66K|DDX31_ENST00000544003.1_Missense_Mutation_p.E99K|DDX31_ENST00000372153.1_Missense_Mutation_p.E195K|DDX31_ENST00000480876.1_5'UTR	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	195						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CACTGTCTCTCCTCCTGGTTT	0.423																																						dbGAP											0													187.0	179.0	182.0					9																	135537890		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.583G>A	9.37:g.135537890C>T	ENSP00000361232:p.Glu195Lys		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E195K	ENST00000372159.3	37	c.583	CCDS6951.1	9	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637837	0.29157	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532;ENST00000544003	T;T;T;T;T	0.46063	4.36;3.91;4.35;3.5;0.88	5.6	2.74	0.32292	.	0.860006	0.10576	N	0.658523	T	0.23451	0.0567	L	0.27053	0.805	0.09310	N	1	P;P;B	0.38440	0.631;0.631;0.179	B;B;B	0.36608	0.229;0.229;0.033	T	0.11591	-1.0581	10	0.11182	T	0.66	-3.6507	2.8554	0.05571	0.1285:0.5247:0.1699:0.177	.	195;195;195	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	K	195;195;195;66;195;99	ENSP00000361232:E195K;ENSP00000361226:E195K;ENSP00000387730:E66K;ENSP00000310539:E195K;ENSP00000442425:E99K	ENSP00000310539:E195K	E	-	1	0	DDX31	134527711	0.006000	0.16342	0.299000	0.25016	0.039000	0.13416	1.394000	0.34509	0.298000	0.22638	0.655000	0.94253	GAG	DDX31	-	NULL	ENSG00000125485		0.423	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DDX31	HGNC	protein_coding	OTTHUMT00000054794.1	164	0.61	1	C	NM_138620		135537890	135537890	-1	no_errors	ENST00000372159	ensembl	human	known	69_37n	missense	147	43.24	112	SNP	0.034	T
DDX3X	1654	genome.wustl.edu	37	X	41196696	41196696	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:41196696G>C	ENST00000399959.2	+	2	936	c.81G>C	c.(79-81)caG>caC	p.Q27H	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Missense_Mutation_p.Q27H|DDX3X_ENST00000542215.1_Missense_Mutation_p.Q71H|DDX3X_ENST00000457138.2_Missense_Mutation_p.Q27H	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	27	Interaction with EIF4E.|Required for TBK1 and IKBKE-dependent IFN-beta activation.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CAGATAATCAGAGTGGAGGAA	0.383										HNSCC(61;0.18)																												dbGAP											0													132.0	119.0	123.0					X																	41196696		1892	4113	6005	-	-	-	SO:0001583	missense	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.81G>C	X.37:g.41196696G>C	ENSP00000382840:p.Gln27His		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q27H	ENST00000399959.2	37	c.81	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687763	0.68157	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000441189;ENST00000542215	T;T;T	0.48836	2.02;1.97;0.8	5.28	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.69358	2.11	0.53688	D	0.99997	D;B;P;D;D;P	0.64830	0.994;0.11;0.943;0.992;0.989;0.94	D;B;D;D;P;P	0.75484	0.986;0.085;0.948;0.976;0.737;0.462	T	0.56117	-0.8032	10	0.13108	T	0.6	-6.104	10.475	0.44659	0.159:0.0:0.841:0.0	.	27;27;27;27;39;27	B4DLA0;B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;.;DDX3X_HUMAN	H	27;27;27;71	ENSP00000382840:Q27H;ENSP00000392494:Q27H;ENSP00000439799:Q71H	ENSP00000382840:Q27H	Q	+	3	2	DDX3X	41081640	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.940000	0.56599	2.341000	0.79615	0.513000	0.50165	CAG	DDX3X	-	NULL	ENSG00000215301		0.383	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	71	0.00	0	G	NM_024005		41196696	41196696	+1	no_errors	ENST00000399959	ensembl	human	known	69_37n	missense	84	40.56	58	SNP	1.000	C
DDX49	54555	genome.wustl.edu	37	19	19035063	19035063	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:19035063G>A	ENST00000247003.4	+	7	865	c.798G>A	c.(796-798)atG>atA	p.M266I	DDX49_ENST00000599156.1_3'UTR|DDX49_ENST00000438170.2_Missense_Mutation_p.M159I|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	266	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			TTCTGTGCATGATGCTGCGCA	0.632																																						dbGAP											0													127.0	75.0	92.0					19																	19035063		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"""DEAD-boxes"""	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.798G>A	19.37:g.19035063G>A	ENSP00000247003:p.Met266Ile		E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.M266I	ENST00000247003.4	37	c.798	CCDS12390.1	19	.	.	.	.	.	.	.	.	.	.	G	17.52	3.408970	0.62399	.	.	ENSG00000105671	ENST00000247003;ENST00000438170	T;T	0.04502	3.61;3.61	5.03	5.03	0.67393	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.02649	0.0080	N	0.01640	-0.785	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.25987	0.065;0.065	T	0.57271	-0.7840	10	0.18710	T	0.47	-53.0244	17.3314	0.87265	0.0:0.0:1.0:0.0	.	266;266	A8K7A1;Q9Y6V7	.;DDX49_HUMAN	I	266;159	ENSP00000247003:M266I;ENSP00000395377:M159I	ENSP00000247003:M266I	M	+	3	0	DDX49	18896063	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.431000	0.97494	2.345000	0.79718	0.491000	0.48974	ATG	DDX49	-	smart_Helicase_C,pfscan_Helicase_C	ENSG00000105671		0.632	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX49	HGNC	protein_coding	OTTHUMT00000464593.1	17	0.00	0	G	NM_019070		19035063	19035063	+1	no_errors	ENST00000247003	ensembl	human	known	69_37n	missense	17	39.29	11	SNP	1.000	A
DDX6	1656	genome.wustl.edu	37	11	118627886	118627886	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:118627886C>G	ENST00000526070.2	-	10	1464	c.1104G>C	c.(1102-1104)atG>atC	p.M368I	DDX6_ENST00000534980.1_Missense_Mutation_p.M368I|DDX6_ENST00000264018.4_Missense_Mutation_p.M368I	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	368	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TCACCTGCCTCATTTTAGCAT	0.323			T	IGH@	B-NHL																																	dbGAP		Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	0													42.0	37.0	39.0					11																	118627886		1793	4062	5855	-	-	-	SO:0001583	missense	0			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1104G>C	11.37:g.118627886C>G	ENSP00000433704:p.Met368Ile		Q5D048	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.M368I	ENST00000526070.2	37	c.1104	CCDS44751.1	11	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987091	0.93106	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.76316	-1.01;-1.01;-1.01	5.79	5.79	0.91817	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.84433	0.5471	L	0.37507	1.11	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.85409	0.1136	10	0.87932	D	0	.	19.6352	0.95728	0.0:1.0:0.0:0.0	.	368	P26196	DDX6_HUMAN	I	368	ENSP00000264018:M368I;ENSP00000442266:M368I;ENSP00000433704:M368I	ENSP00000264018:M368I	M	-	3	0	DDX6	118133096	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.716000	0.92895	0.591000	0.81541	ATG	DDX6	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000110367		0.323	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DDX6	HGNC	protein_coding	OTTHUMT00000389647.2	35	0.00	0	C	NM_004397		118627886	118627886	-1	no_errors	ENST00000264018	ensembl	human	known	69_37n	missense	20	57.45	27	SNP	1.000	G
DEFB125	245938	genome.wustl.edu	37	20	76674	76674	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:76674G>C	ENST00000382410.2	+	2	87	c.87G>C	c.(85-87)aaG>aaC	p.K29N	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	29					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			AATGTTGGAAGAATAATGTAG	0.323																																						dbGAP											0													109.0	105.0	107.0					20																	76674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.87G>C	20.37:g.76674G>C	ENSP00000371847:p.Lys29Asn		A1A502|Q7Z7B9	Missense_Mutation	SNP	NULL	p.K29N	ENST00000382410.2	37	c.87	CCDS12989.2	20	.	.	.	.	.	.	.	.	.	.	.	5.665	0.307236	0.10733	.	.	ENSG00000178591	ENST00000382410	T	0.10573	2.86	3.32	1.31	0.21738	.	0.000000	0.37715	N	0.001976	T	0.15565	0.0375	L	0.35414	1.06	0.28548	N	0.911753	D	0.76494	0.999	D	0.75020	0.985	T	0.04216	-1.0968	10	0.52906	T	0.07	-9.3959	3.8478	0.08942	0.1286:0.0:0.6333:0.2381	.	29	Q8N687	DB125_HUMAN	N	29	ENSP00000371847:K29N	ENSP00000371847:K29N	K	+	3	2	DEFB125	24674	0.936000	0.31750	0.941000	0.38009	0.210000	0.24377	1.038000	0.30254	0.405000	0.25532	0.655000	0.94253	AAG	DEFB125	-	NULL	ENSG00000178591		0.323	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB125	HGNC	protein_coding	OTTHUMT00000077426.2	27	0.00	0	G	NM_153325		76674	76674	+1	no_errors	ENST00000382410	ensembl	human	known	69_37n	missense	37	37.29	22	SNP	0.948	C
DEFB125	245938	genome.wustl.edu	37	20	76792	76792	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:76792G>C	ENST00000382410.2	+	2	205	c.205G>C	c.(205-207)Gca>Cca	p.A69P	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	69					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TCGACGACCAGCATTTCCTGT	0.363																																						dbGAP											0													192.0	181.0	184.0					20																	76792		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.205G>C	20.37:g.76792G>C	ENSP00000371847:p.Ala69Pro		A1A502|Q7Z7B9	Missense_Mutation	SNP	NULL	p.A69P	ENST00000382410.2	37	c.205	CCDS12989.2	20	.	.	.	.	.	.	.	.	.	.	.	1.560	-0.536824	0.04082	.	.	ENSG00000178591	ENST00000382410	T	0.10860	2.83	3.49	-4.59	0.03400	.	2.186010	0.02247	N	0.066272	T	0.04815	0.0130	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30650	-0.9971	10	0.25106	T	0.35	0.0479	3.2461	0.06797	0.3832:0.1773:0.3523:0.0872	.	69	Q8N687	DB125_HUMAN	P	69	ENSP00000371847:A69P	ENSP00000371847:A69P	A	+	1	0	DEFB125	24792	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.735000	0.04888	-1.327000	0.02264	-2.140000	0.00339	GCA	DEFB125	-	NULL	ENSG00000178591		0.363	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB125	HGNC	protein_coding	OTTHUMT00000077426.2	57	0.00	0	G	NM_153325		76792	76792	+1	no_errors	ENST00000382410	ensembl	human	known	69_37n	missense	60	37.50	36	SNP	0.000	C
DEK	7913	genome.wustl.edu	37	6	18236826	18236826	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:18236826C>T	ENST00000397239.3	-	9	1351	c.904G>A	c.(904-906)Gag>Aag	p.E302K	DEK_ENST00000244776.7_Missense_Mutation_p.E268K	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	302	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TCCTCAGACTCACTTTCTAAA	0.284			T	NUP214	AML																																	dbGAP		Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0													46.0	48.0	47.0					6																	18236826		2199	4293	6492	-	-	-	SO:0001583	missense	0			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.904G>A	6.37:g.18236826C>T	ENSP00000380414:p.Glu302Lys		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	pfam_DEK_C,pfam_SAP_DNA-bd,smart_SAP_DNA-bd	p.E302K	ENST00000397239.3	37	c.904	CCDS34344.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.217504	0.95104	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000507591	T;T	0.46451	0.87;0.87	5.74	5.74	0.90152	.	0.275968	0.39475	N	0.001346	T	0.26376	0.0644	L	0.46157	1.445	0.58432	D	0.999999	P;B	0.34562	0.457;0.189	B;B	0.32465	0.146;0.112	T	0.04752	-1.0929	10	0.21014	T	0.42	-9.3649	20.2982	0.98569	0.0:1.0:0.0:0.0	.	268;302	B4DN37;P35659	.;DEK_HUMAN	K	302;268;78	ENSP00000380414:E302K;ENSP00000244776:E268K	ENSP00000244776:E268K	E	-	1	0	DEK	18344805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.324000	0.59228	2.873000	0.98535	0.563000	0.77884	GAG	DEK	-	NULL	ENSG00000124795		0.284	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEK	HGNC	protein_coding	OTTHUMT00000039962.4	43	0.00	0	C			18236826	18236826	-1	no_errors	ENST00000397239	ensembl	human	known	69_37n	missense	48	34.25	25	SNP	1.000	T
DENND4A	10260	genome.wustl.edu	37	15	65994124	65994124	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:65994124G>C	ENST00000431932.2	-	18	2743	c.2535C>G	c.(2533-2535)gcC>gcG	p.A845A	DENND4A_ENST00000443035.3_Silent_p.A845A	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	845					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CATAAGTAATGGCATTGGGGT	0.358																																						dbGAP											0													89.0	84.0	86.0					15																	65994124		1834	4076	5910	-	-	-	SO:0001819	synonymous_variant	0			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2535C>G	15.37:g.65994124G>C			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.A845	ENST00000431932.2	37	c.2535	CCDS45285.1	15																																																																																			DENND4A	-	tigrfam_Pentatricopeptide_repeat	ENSG00000174485		0.358	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	40	0.00	0	G	NM_005848		65994124	65994124	-1	no_errors	ENST00000443035	ensembl	human	known	69_37n	silent	94	22.95	28	SNP	1.000	C
DENND4B	9909	genome.wustl.edu	37	1	153906685	153906685	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:153906685C>T	ENST00000361217.4	-	19	3285	c.2867G>A	c.(2866-2868)gGa>gAa	p.G956E	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	956					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACCAGGCGTCCAGGGGGTGA	0.642																																						dbGAP											0													17.0	18.0	18.0					1																	153906685		1861	4093	5954	-	-	-	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2867G>A	1.37:g.153906685C>T	ENSP00000354597:p.Gly956Glu		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G956E	ENST00000361217.4	37	c.2867	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855751	0.51376	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.09911	2.93;2.94	4.76	4.76	0.60689	.	0.351940	0.28847	N	0.013949	T	0.12987	0.0315	L	0.27053	0.805	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.10268	-1.0637	10	0.37606	T	0.19	-23.8308	15.3188	0.74105	0.0:1.0:0.0:0.0	.	956	O75064	DEN4B_HUMAN	E	956;967	ENSP00000354597:G956E;ENSP00000357635:G967E	ENSP00000354597:G956E	G	-	2	0	DENND4B	152173309	0.992000	0.36948	0.997000	0.53966	0.952000	0.60782	2.568000	0.45965	2.460000	0.83146	0.462000	0.41574	GGA	DENND4B	-	NULL	ENSG00000198837		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	34	0.00	0	C	XM_375806		153906685	153906685	-1	no_errors	ENST00000361217	ensembl	human	known	69_37n	missense	16	37.04	10	SNP	1.000	T
DEPDC5	9681	genome.wustl.edu	37	22	32275716	32275716	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:32275716G>C	ENST00000382105.2	+	35	3810	c.3668G>C	c.(3667-3669)gGa>gCa	p.G1223A	DEPDC5_ENST00000400246.1_Silent_p.R1337R|DEPDC5_ENST00000400248.2_Silent_p.R1306R|DEPDC5_ENST00000539165.1_Silent_p.R154R|DEPDC5_ENST00000535622.1_Silent_p.R1237R|DEPDC5_ENST00000266091.3_Silent_p.R1315R|DEPDC5_ENST00000400249.2_Silent_p.R1306R|DEPDC5_ENST00000382112.3_Silent_p.R1328R|DEPDC5_ENST00000382111.2_Silent_p.R1337R			O75140	DEPD5_HUMAN	DEP domain containing 5	0	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTGGAGGACGGAGCCAGGCGG	0.592																																						dbGAP											0													41.0	40.0	41.0					22																	32275716		2021	4177	6198	-	-	-	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382105.2:c.3668G>C	22.37:g.32275716G>C	ENSP00000371539:p.Gly1223Ala		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608	p.G1223A	ENST00000382105.2	37	c.3668		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.76|15.76	2.927493|2.927493	0.52759|0.52759	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000382105	.|T	.|0.32753	.|1.44	5.72|5.72	3.58|3.58	0.41010|0.41010	.|.	.|.	.|.	.|.	.|.	T|T	0.25531|0.25531	0.0621|0.0621	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.01972|0.01972	-1.1237|-1.1237	4|6	.|0.10902	.|T	.|0.67	.|.	12.0035|12.0035	0.53246|0.53246	0.0:0.1317:0.7312:0.1371|0.0:0.1317:0.7312:0.1371	.|.	.|.	.|.	.|.	Q|A	713|1223	.|ENSP00000371539:G1223A	.|ENSP00000371539:G1223A	E|G	+|+	1|2	0|0	DEPDC5|DEPDC5	30605716|30605716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.709000|1.709000	0.37909|0.37909	0.727000|0.727000	0.32360|0.32360	0.651000|0.651000	0.88453|0.88453	GAG|GGA	DEPDC5	-	NULL	ENSG00000100150		0.592	DEPDC5-202	KNOWN	basic	protein_coding	DEPDC5	HGNC	protein_coding		76	0.00	0	G	NM_014662		32275716	32275716	+1	no_errors	ENST00000382105	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	1.000	C
DGKB	1607	genome.wustl.edu	37	7	14613986	14613986	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:14613986C>T	ENST00000403951.2	-	20	2043	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	DGKB_ENST00000402815.1_Missense_Mutation_p.E541K|DGKB_ENST00000258767.5_Missense_Mutation_p.E542K|DGKB_ENST00000399322.3_Missense_Mutation_p.E542K|DGKB_ENST00000407950.1_Missense_Mutation_p.E534K|DGKB_ENST00000444700.2_Missense_Mutation_p.E523K|DGKB_ENST00000406247.3_Missense_Mutation_p.E542K|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	542	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						ATCAGATTCTCACCTTCGTAA	0.333																																						dbGAP											0													145.0	129.0	134.0					7																	14613986		1826	4092	5918	-	-	-	SO:0001583	missense	0			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1624G>A	7.37:g.14613986C>T	ENSP00000385780:p.Glu542Lys		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E542K	ENST00000403951.2	37	c.1624	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134814	0.77662	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.43	5.43	0.79202	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	L	0.49778	1.585	0.80722	D	1	P;B;B;P	0.40197	0.706;0.182;0.182;0.656	P;B;B;B	0.44921	0.464;0.193;0.193;0.412	T	0.02138	-1.1207	10	0.37606	T	0.19	.	19.2459	0.93902	0.0:1.0:0.0:0.0	.	541;523;542;542	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	K	542;542;542;541;534;523;542	ENSP00000385780:E542K;ENSP00000382260:E542K;ENSP00000258767:E542K;ENSP00000384909:E541K;ENSP00000385031:E534K;ENSP00000388451:E523K;ENSP00000386066:E542K	ENSP00000258767:E542K	E	-	1	0	DGKB	14580511	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.071000	0.71229	2.551000	0.86045	0.655000	0.94253	GAG	DGKB	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000136267		0.333	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	135	0.00	0	C	NM_004080		14613986	14613986	-1	no_errors	ENST00000258767	ensembl	human	known	69_37n	missense	122	36.13	69	SNP	1.000	T
DFNA5	1687	genome.wustl.edu	37	7	24756892	24756892	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:24756892C>G	ENST00000342947.3	-	5	1103	c.678G>C	c.(676-678)gtG>gtC	p.V226V	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Silent_p.V62V|DFNA5_ENST00000409775.3_Silent_p.V226V|DFNA5_ENST00000545231.1_Silent_p.V62V|DFNA5_ENST00000419307.1_Silent_p.V62V	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	226					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGTCCAGTTTCACGTATAACT	0.572																																					GBM(78;184 1250 20134 20900 23600)	dbGAP											0													151.0	110.0	124.0					7																	24756892		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.678G>C	7.37:g.24756892C>G			A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Nonstop_Mutation	SNP	pfam_Gasdermin	p.*51S	ENST00000342947.3	37	c.152	CCDS5389.1	7	.	.	.	.	.	.	.	.	.	.	C	1.779	-0.482523	0.04383	.	.	ENSG00000105928	ENST00000415480;ENST00000446822	.	.	.	5.7	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.8403	7.1235	0.25458	0.0:0.6768:0.1659:0.1573	.	.	.	.	S	15;51	.	.	X	-	2	2	DFNA5	24723417	1.000000	0.71417	0.969000	0.41365	0.261000	0.26267	1.503000	0.35715	2.676000	0.91093	0.655000	0.94253	TGA	DFNA5	-	pfam_Gasdermin	ENSG00000105928		0.572	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	HGNC	protein_coding	OTTHUMT00000214060.2	63	0.00	0	C	NM_004403		24756892	24756892	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000446822	ensembl	human	putative	69_37n	nonstop	21	44.74	17	SNP	0.991	G
DGKD	8527	genome.wustl.edu	37	2	234346099	234346099	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:234346099C>T	ENST00000264057.2	+	8	908	c.896C>T	c.(895-897)aCg>aTg	p.T299M	DGKD_ENST00000409813.3_Missense_Mutation_p.T255M	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	299					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATCCCACCCACGGCTCTCAAC	0.542																																						dbGAP											0													156.0	130.0	139.0					2																	234346099		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.896C>T	2.37:g.234346099C>T	ENSP00000264057:p.Thr299Met		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.T299M	ENST00000264057.2	37	c.896	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406907	0.62399	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;D	0.81739	-1.37;-1.53	4.96	4.08	0.47627	.	0.000000	0.64402	D	0.000001	D	0.83431	0.5253	L	0.52364	1.645	0.53688	D	0.999975	P;D;P	0.67145	0.955;0.996;0.923	B;P;B	0.56916	0.402;0.809;0.295	D	0.85252	0.1045	10	0.72032	D	0.01	.	13.4043	0.60903	0.0:0.9247:0.0:0.0752	.	183;255;299	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	M	299;255	ENSP00000264057:T299M;ENSP00000386455:T255M	ENSP00000264057:T299M	T	+	2	0	DGKD	234010838	1.000000	0.71417	0.833000	0.33012	0.841000	0.47740	5.924000	0.70054	1.462000	0.47948	0.655000	0.94253	ACG	DGKD	-	NULL	ENSG00000077044		0.542	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	73	0.00	0	C	NM_003648		234346099	234346099	+1	no_errors	ENST00000264057	ensembl	human	known	69_37n	missense	26	55.93	33	SNP	0.998	T
DGKI	9162	genome.wustl.edu	37	7	137308281	137308281	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:137308281G>C	ENST00000288490.5	-	7	824	c.824C>G	c.(823-825)tCc>tGc	p.S275C	DGKI_ENST00000424189.2_Missense_Mutation_p.S275C|DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.S275C	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	275					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACTGTGGAAGGAGAACTTTTG	0.448																																						dbGAP											0													184.0	175.0	178.0					7																	137308281		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.824C>G	7.37:g.137308281G>C	ENSP00000288490:p.Ser275Cys		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S275C	ENST00000288490.5	37	c.824	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563256	0.86335	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.37411	1.2;1.39	5.76	5.76	0.90799	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.104270	0.64402	D	0.000002	T	0.58395	0.2119	L	0.58810	1.83	0.50171	D	0.999859	D	0.76494	0.999	D	0.74674	0.984	T	0.51466	-0.8702	10	0.39692	T	0.17	.	19.9596	0.97236	0.0:0.0:1.0:0.0	.	275	O75912	DGKI_HUMAN	C	223;275;275;275	ENSP00000288490:S275C;ENSP00000399131:S275C	ENSP00000288490:S275C	S	-	2	0	DGKI	136958821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.439000	0.90308	2.726000	0.93360	0.655000	0.94253	TCC	DGKI	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000157680		0.448	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	159	0.00	0	G	NM_004717		137308281	137308281	-1	no_errors	ENST00000424189	ensembl	human	known	69_37n	missense	88	37.14	52	SNP	1.000	C
DHPS	1725	genome.wustl.edu	37	19	12792434	12792434	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:12792434G>C	ENST00000210060.7	-	1	282	c.147C>G	c.(145-147)ttC>ttG	p.F49L	DHPS_ENST00000599481.1_5'Flank|DHPS_ENST00000351660.5_Missense_Mutation_p.F49L|DHPS_ENST00000594424.1_5'Flank|CTD-2192J16.26_ENST00000593554.1_lincRNA	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						CGGTGGTGCCGAAGGCCTCCA	0.632																																						dbGAP											0													59.0	60.0	60.0					19																	12792434		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.147C>G	19.37:g.12792434G>C	ENSP00000210060:p.Phe49Leu		A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	p.F49L	ENST00000210060.7	37	c.147	CCDS12276.1	19	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163283	0.38217	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.42900	0.96;0.96	5.53	3.38	0.38709	.	0.343803	0.32015	N	0.006708	T	0.28863	0.0716	L	0.33339	1.005	0.38094	D	0.937041	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.18871	0.023;0.002;0.002	T	0.10359	-1.0633	10	0.19590	T	0.45	-11.7203	9.2865	0.37760	0.0813:0.1556:0.7631:0.0	.	49;49;49	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	L	49	ENSP00000210060:F49L;ENSP00000221303:F49L	ENSP00000210060:F49L	F	-	3	2	DHPS	12653434	0.995000	0.38212	0.598000	0.28837	0.266000	0.26442	2.501000	0.45389	0.691000	0.31592	0.313000	0.20887	TTC	DHPS	-	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	ENSG00000095059		0.632	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHPS	HGNC	protein_coding	OTTHUMT00000462708.1	73	0.00	0	G	NM_001930		12792434	12792434	-1	no_errors	ENST00000210060	ensembl	human	known	69_37n	missense	29	39.58	19	SNP	0.838	C
DLGAP5	9787	genome.wustl.edu	37	14	55643837	55643837	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:55643837C>T	ENST00000247191.2	-	8	1208	c.992G>A	c.(991-993)aGa>aAa	p.R331K	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R331K	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	331					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATTGGCACTTCTGGGAGTCAT	0.383																																						dbGAP											0													92.0	92.0	92.0					14																	55643837		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.992G>A	14.37:g.55643837C>T	ENSP00000247191:p.Arg331Lys		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.R331K	ENST00000247191.2	37	c.992	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	C	3.607	-0.080419	0.07141	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.17213	2.29;2.29	5.76	0.324	0.15898	.	0.705821	0.13963	N	0.350662	T	0.16938	0.0407	M	0.67953	2.075	0.09310	N	1	B;P	0.36837	0.428;0.571	B;B	0.36608	0.229;0.151	T	0.16928	-1.0386	10	0.22706	T	0.39	.	9.0141	0.36159	0.0934:0.352:0.488:0.0665	.	331;331	A8MTM6;Q15398	.;DLGP5_HUMAN	K	331	ENSP00000378815:R331K;ENSP00000247191:R331K	ENSP00000247191:R331K	R	-	2	0	DLGAP5	54713590	0.454000	0.25728	0.971000	0.41717	0.067000	0.16453	0.305000	0.19254	0.405000	0.25532	0.591000	0.81541	AGA	DLGAP5	-	pfam_GKAP	ENSG00000126787		0.383	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	106	0.00	0	C	NM_014750		55643837	55643837	-1	no_errors	ENST00000247191	ensembl	human	known	69_37n	missense	73	42.06	53	SNP	0.000	T
DMD	1756	genome.wustl.edu	37	X	31241177	31241177	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:31241177C>T	ENST00000357033.4	-	64	9554	c.9348G>A	c.(9346-9348)caG>caA	p.Q3116Q	DMD_ENST00000378723.3_Silent_p.Q48Q|DMD_ENST00000378702.4_Silent_p.Q48Q|DMD_ENST00000361471.4_Silent_p.Q48Q|DMD_ENST00000378680.2_Silent_p.Q48Q|DMD_ENST00000343523.2_Silent_p.Q656Q|DMD_ENST00000541735.1_Silent_p.Q656Q|DMD_ENST00000378677.2_Silent_p.Q3112Q|DMD_ENST00000474231.1_Silent_p.Q656Q|DMD_ENST00000378707.3_Silent_p.Q656Q|DMD_ENST00000359836.1_Silent_p.Q656Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3116	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAAGGGCCTTCTGCAGTCTTC	0.388																																						dbGAP											0													91.0	87.0	88.0					X																	31241177		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9348G>A	X.37:g.31241177C>T			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_Spectrin_repeat,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E845K	ENST00000357033.4	37	c.2533	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	8.230	0.804467	0.16467	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.23	4.37	0.52481	.	.	.	.	.	T	0.58864	0.2152	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55412	-0.8145	4	.	.	.	.	8.5509	0.33451	0.0:0.8161:0.0:0.1839	.	.	.	.	K	845	.	.	E	-	1	0	DMD	31151098	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.171000	0.50824	1.009000	0.39289	0.540000	0.68198	GAA	DMD	-	pfam_EF-hand_dom_typ1	ENSG00000198947		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	48	0.00	0	C	NM_004006		31241177	31241177	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000465285	ensembl	human	novel	69_37n	missense	37	33.93	19	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	32662403	32662403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:32662403G>A	ENST00000357033.4	-	11	1383	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	DMD_ENST00000288447.4_Nonsense_Mutation_p.Q385*|MIR548F5_ENST00000408421.1_RNA|DMD_ENST00000378677.2_Nonsense_Mutation_p.Q389*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	393					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACCCGGCCCTGATGGGCTGTC	0.378																																						dbGAP											0													101.0	89.0	93.0					X																	32662403		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1177C>T	X.37:g.32662403G>A	ENSP00000354923:p.Gln393*		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q393*	ENST00000357033.4	37	c.1177	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	38	6.773368	0.97829	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.77	5.77	0.91146	.	0.000000	0.33401	U	0.004953	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0074	0.92857	0.0:0.0:1.0:0.0	.	.	.	.	X	385;389;393;393;270;385	.	ENSP00000288447:Q385X	Q	-	1	0	DMD	32572324	1.000000	0.71417	0.997000	0.53966	0.307000	0.27823	9.869000	0.99810	2.438000	0.82558	0.594000	0.82650	CAG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	72	0.00	0	G	NM_004006		32662403	32662403	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	nonsense	140	13.04	21	SNP	1.000	A
DMXL2	23312	genome.wustl.edu	37	15	51773348	51773348	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:51773348G>A	ENST00000251076.5	-	24	6242	c.5955C>T	c.(5953-5955)gcC>gcT	p.A1985A	DMXL2_ENST00000543779.2_Silent_p.A1985A|DMXL2_ENST00000449909.3_Silent_p.A1349A|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1985						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTTCATCTAAGGCACTGTCGT	0.418																																						dbGAP											0													215.0	213.0	213.0					15																	51773348		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5955C>T	15.37:g.51773348G>A			B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P110L	ENST00000251076.5	37	c.329	CCDS10141.1	15																																																																																			DMXL2	-	NULL	ENSG00000104093		0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	121	0.00	0	G	NM_015263		51773348	51773348	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000560891	ensembl	human	novel	69_37n	missense	101	36.08	57	SNP	0.999	A
DMXL2	23312	genome.wustl.edu	37	15	51828902	51828902	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:51828902G>C	ENST00000251076.5	-	12	2062	c.1775C>G	c.(1774-1776)tCa>tGa	p.S592*	DMXL2_ENST00000449909.3_Nonsense_Mutation_p.S592*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.S592*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	592						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTGTGGCTGTGATCCGTGAGG	0.428																																						dbGAP											0													156.0	129.0	138.0					15																	51828902		2195	4293	6488	-	-	-	SO:0001587	stop_gained	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1775C>G	15.37:g.51828902G>C	ENSP00000251076:p.Ser592*		B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S592*	ENST00000251076.5	37	c.1775	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.447911	0.96205	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.29	4.35	0.52113	.	0.335304	0.32563	N	0.005925	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	11.1828	0.48638	0.0:0.3287:0.5474:0.1238	.	.	.	.	X	592	.	ENSP00000251076:S592X	S	-	2	0	DMXL2	49616194	0.110000	0.22057	0.041000	0.18516	0.728000	0.41692	1.766000	0.38491	1.176000	0.42840	0.561000	0.74099	TCA	DMXL2	-	NULL	ENSG00000104093		0.428	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	108	0.00	0	G	NM_015263		51828902	51828902	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	nonsense	37	41.27	26	SNP	0.005	C
DNA2	1763	genome.wustl.edu	37	10	70192010	70192010	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:70192010G>C	ENST00000358410.3	-	12	1876	c.1826C>G	c.(1825-1827)tCt>tGt	p.S609C	DNA2_ENST00000399180.2_Missense_Mutation_p.S695C|DNA2_ENST00000399179.2_Missense_Mutation_p.S609C	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	609	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGGAAGAACAGAACTAAGGTA	0.328																																						dbGAP											0													148.0	142.0	144.0					10																	70192010		1836	4086	5922	-	-	-	SO:0001583	missense	0			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1826C>G	10.37:g.70192010G>C	ENSP00000351185:p.Ser609Cys		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2	p.S695C	ENST00000358410.3	37	c.2084		10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980115	0.74474	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.94537	-2.96;-3.45;-2.94	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	M	0.78637	2.42	0.45837	D	0.998708	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.976	D	0.96586	0.9434	10	0.48119	T	0.1	.	20.3397	0.98756	0.0:0.0:1.0:0.0	.	609;609	F8VR31;P51530	.;DNA2L_HUMAN	C	609;695;609;609	ENSP00000382133:S695C;ENSP00000382132:S609C;ENSP00000351185:S609C	ENSP00000351185:S609C	S	-	2	0	DNA2	69862016	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.078000	0.64425	2.811000	0.96726	0.558000	0.71614	TCT	DNA2	-	NULL	ENSG00000138346		0.328	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	52	0.00	0	G			70192010	70192010	-1	no_errors	ENST00000399180	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	C
DNAH11	8701	genome.wustl.edu	37	7	21818711	21818711	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:21818711G>A	ENST00000409508.3	+	57	9503	c.9472G>A	c.(9472-9474)Gag>Aag	p.E3158K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E3165K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3165	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGCTGATGCTGAGGAGCGAAA	0.463									Kartagener syndrome																													dbGAP											0													60.0	58.0	59.0					7																	21818711		1902	4134	6036	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9472G>A	7.37:g.21818711G>A	ENSP00000475939:p.Glu3158Lys		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3165K	ENST00000409508.3	37	c.9493		7	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167135	0.78339	.	.	ENSG00000105877	ENST00000328843	T	0.80123	-1.34	6.03	6.03	0.97812	Dynein heavy chain, coiled coil stalk (1);	0.269298	0.41097	D	0.000950	D	0.89798	0.6819	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86619	0.1878	9	0.31617	T	0.26	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	3165	Q96DT5	DYH11_HUMAN	K	3165	ENSP00000330671:E3165K	ENSP00000330671:E3165K	E	+	1	0	DNAH11	21785236	1.000000	0.71417	0.970000	0.41538	0.347000	0.29111	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GAG	DNAH11	-	NULL	ENSG00000105877		0.463	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	34	0.00	0	G	NM_003777		21818711	21818711	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	26	39.53	17	SNP	1.000	A
DNAH14	127602	genome.wustl.edu	37	1	225239443	225239443	+	Intron	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:225239443G>C	ENST00000445597.2	+	13	2226				DNAH14_ENST00000439375.2_Missense_Mutation_p.M790I|DNAH14_ENST00000430092.1_Missense_Mutation_p.M790I			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TCATACATATGAGCCACACCC	0.303																																						dbGAP											0													53.0	42.0	45.0					1																	225239443		692	1586	2278	-	-	-	SO:0001627	intron_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.2226+57G>C	1.37:g.225239443G>C			A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.M790I	ENST00000445597.2	37	c.2370		1	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156411	0.09236	.	.	ENSG00000185842	ENST00000430092;ENST00000439375	T;T	0.28255	1.62;1.62	5.51	-2.85	0.05734	.	.	.	.	.	T	0.10594	0.0259	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.27157	-1.0082	8	.	.	.	.	0.6229	0.00781	0.2715:0.1129:0.27:0.3456	.	790	Q0VDD8-4	.	I	790	ENSP00000414402:M790I;ENSP00000392061:M790I	.	M	+	3	0	DNAH14	223306066	0.001000	0.12720	0.000000	0.03702	0.118000	0.20060	0.065000	0.14466	-0.932000	0.03742	0.609000	0.83330	ATG	DNAH14	-	NULL	ENSG00000185842		0.303	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	23	0.00	0	G	XM_059166		225239443	225239443	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	missense	26	39.53	17	SNP	0.000	C
DNAH3	55567	genome.wustl.edu	37	16	20996513	20996513	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:20996513G>C	ENST00000261383.3	-	48	7550	c.7551C>G	c.(7549-7551)atC>atG	p.I2517M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2517	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGCAGGGAAGATGTTAGGCA	0.502																																						dbGAP											0													132.0	110.0	117.0					16																	20996513		2201	4300	6501	-	-	-	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7551C>G	16.37:g.20996513G>C	ENSP00000261383:p.Ile2517Met		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.I2517M	ENST00000261383.3	37	c.7551	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903810	0.33628	.	.	ENSG00000158486	ENST00000261383	T	0.44881	0.91	5.33	4.38	0.52667	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	D	0.000001	T	0.50990	0.1648	L	0.49699	1.58	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	T	0.52094	-0.8621	10	0.59425	D	0.04	.	5.6898	0.17823	0.15:0.0:0.5844:0.2656	.	2517	Q8TD57	DYH3_HUMAN	M	2517	ENSP00000261383:I2517M	ENSP00000261383:I2517M	I	-	3	3	DNAH3	20904014	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	0.465000	0.22004	1.251000	0.43983	0.655000	0.94253	ATC	DNAH3	-	NULL	ENSG00000158486		0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	83	0.00	0	G	NM_017539		20996513	20996513	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	missense	47	31.88	22	SNP	0.998	C
DNAH7	56171	genome.wustl.edu	37	2	196674589	196674589	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:196674589C>G	ENST00000312428.6	-	52	9868	c.9768G>C	c.(9766-9768)caG>caC	p.Q3256H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3256					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTTGAGAATCTGAAGCCTAA	0.313																																						dbGAP											0													53.0	47.0	49.0					2																	196674589		1827	4078	5905	-	-	-	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9768G>C	2.37:g.196674589C>G	ENSP00000311273:p.Gln3256His		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.Q3256H	ENST00000312428.6	37	c.9768	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832843	0.16820	.	.	ENSG00000118997	ENST00000312428	D	0.87491	-2.26	5.29	-4.98	0.03019	.	0.360611	0.31685	N	0.007231	T	0.70962	0.3284	N	0.16790	0.44	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.32981	-0.9886	10	0.49607	T	0.09	.	8.3073	0.32049	0.1866:0.566:0.0:0.2475	.	3256	Q8WXX0	DYH7_HUMAN	H	3256	ENSP00000311273:Q3256H	ENSP00000311273:Q3256H	Q	-	3	2	DNAH7	196382834	0.006000	0.16342	0.875000	0.34327	0.166000	0.22503	-0.874000	0.04210	-1.004000	0.03421	-0.150000	0.13652	CAG	DNAH7	-	NULL	ENSG00000118997		0.313	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	45	0.00	0	C	NM_018897		196674589	196674589	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	missense	32	31.91	15	SNP	0.834	G
DNAH9	1770	genome.wustl.edu	37	17	11778415	11778415	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:11778415C>G	ENST00000262442.4	+	53	10460	c.10392C>G	c.(10390-10392)ctC>ctG	p.L3464L	DNAH9_ENST00000454412.2_Silent_p.L3464L|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3464	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGGCCACTCATGGTTGACC	0.537																																						dbGAP											0													88.0	79.0	82.0					17																	11778415		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10392C>G	17.37:g.11778415C>G			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3464	ENST00000262442.4	37	c.10392	CCDS11160.1	17																																																																																			DNAH9	-	NULL	ENSG00000007174		0.537	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	66	0.00	0	C	NM_001372		11778415	11778415	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	silent	19	57.78	26	SNP	1.000	G
DNAJC1	64215	genome.wustl.edu	37	10	22045637	22045637	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:22045637C>G	ENST00000376980.3	-	12	1934	c.1644G>C	c.(1642-1644)aaG>aaC	p.K548N	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	548					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTTGTTTTTTCTTTTGGACCA	0.363																																						dbGAP											0													157.0	145.0	149.0					10																	22045637		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1644G>C	10.37:g.22045637C>G	ENSP00000366179:p.Lys548Asn		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.K548N	ENST00000376980.3	37	c.1644	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907886	0.72868	.	.	ENSG00000136770	ENST00000376980	T	0.67171	-0.25	5.44	5.44	0.79542	Homeodomain-like (1);	0.101886	0.64402	D	0.000003	T	0.70579	0.3240	L	0.31294	0.92	0.80722	D	1	D;P	0.56968	0.978;0.954	P;P	0.58266	0.836;0.563	T	0.66988	-0.5784	10	0.30854	T	0.27	-5.3708	19.611	0.95606	0.0:1.0:0.0:0.0	.	269;548	Q96NY3;Q96KC8	.;DNJC1_HUMAN	N	548	ENSP00000366179:K548N	ENSP00000366179:K548N	K	-	3	2	DNAJC1	22085643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.366000	0.66122	2.712000	0.92718	0.561000	0.74099	AAG	DNAJC1	-	superfamily_Homeodomain-like	ENSG00000136770		0.363	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	203	0.49	1	C	NM_022365		22045637	22045637	-1	no_errors	ENST00000376980	ensembl	human	known	69_37n	missense	121	38.58	76	SNP	1.000	G
DNMBP	23268	genome.wustl.edu	37	10	101715753	101715753	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:101715753C>T	ENST00000324109.4	-	4	1569	c.1478G>A	c.(1477-1479)aGa>aAa	p.R493K	DNMBP_ENST00000342239.3_Missense_Mutation_p.R493K|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	493					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACTTGATTGTCTGGGTTTGAC	0.463																																						dbGAP											0													108.0	117.0	114.0					10																	101715753		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1478G>A	10.37:g.101715753C>T	ENSP00000315659:p.Arg493Lys		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.R493K	ENST00000324109.4	37	c.1478	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868329	0.32977	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.10382	2.93;2.88	5.92	-0.265	0.12946	.	0.203971	0.34777	N	0.003686	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.45411	-0.9263	10	0.09084	T	0.74	-7.158	6.9267	0.24419	0.0:0.5612:0.1135:0.3253	.	493	Q6XZF7	DNMBP_HUMAN	K	493	ENSP00000344914:R493K;ENSP00000315659:R493K	ENSP00000315659:R493K	R	-	2	0	DNMBP	101705743	0.003000	0.15002	0.017000	0.16124	0.238000	0.25445	0.230000	0.17852	0.126000	0.18424	0.561000	0.74099	AGA	DNMBP	-	NULL	ENSG00000107554		0.463	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	52	0.00	0	C	NM_015221		101715753	101715753	-1	no_errors	ENST00000342239	ensembl	human	known	69_37n	missense	23	37.84	14	SNP	0.002	T
DNMT3A	1788	genome.wustl.edu	37	2	25467060	25467060	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:25467060G>A	ENST00000264709.3	-	15	2152	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	DNMT3A_ENST00000402667.1_Silent_p.L382L|DNMT3A_ENST00000380746.4_Silent_p.L416L|DNMT3A_ENST00000321117.5_Silent_p.L605L|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	605	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAACATCTGGAGCCGGGAGG	0.627			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													30.0	36.0	34.0					2																	25467060		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1815C>T	2.37:g.25467060G>A			E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.L605	ENST00000264709.3	37	c.1815	CCDS33157.1	2																																																																																			DNMT3A	-	superfamily_Znf_FYVE_PHD	ENSG00000119772		0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	21	0.00	0	G	NM_022552		25467060	25467060	-1	no_errors	ENST00000264709	ensembl	human	known	69_37n	silent	4	63.64	7	SNP	0.998	A
DOCK5	80005	genome.wustl.edu	37	8	25156537	25156537	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:25156537C>T	ENST00000276440.7	+	8	728	c.684C>T	c.(682-684)ttC>ttT	p.F228F	DOCK5_ENST00000481100.1_Silent_p.F228F	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	228					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATGTGAACTTCAAGAACTTTG	0.498																																					Pancreas(145;34 1887 3271 10937 30165)	dbGAP											0													116.0	93.0	100.0					8																	25156537		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.684C>T	8.37:g.25156537C>T			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S27L	ENST00000276440.7	37	c.80	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889969	0.91889	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.09	2.3	0.28687	.	.	.	.	.	T	0.59473	0.2196	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55205	-0.8177	4	.	.	.	.	10.4337	0.44421	0.0:0.786:0.0:0.214	.	.	.	.	L	27	.	.	S	+	2	0	DOCK5	25212454	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.557000	0.36299	0.744000	0.32741	0.555000	0.69702	TCA	DOCK5	-	NULL	ENSG00000147459		0.498	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	84	0.00	0	C	NM_024940		25156537	25156537	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000444569	ensembl	human	novel	69_37n	missense	91	32.59	44	SNP	1.000	T
DTX3L	151636	genome.wustl.edu	37	3	122288505	122288505	+	Silent	SNP	T	T	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:122288505T>G	ENST00000296161.4	+	3	1758	c.1569T>G	c.(1567-1569)ggT>ggG	p.G523G	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	523					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TGAAAGAGGGTCATGAAACAC	0.468																																						dbGAP											0													89.0	90.0	90.0					3																	122288505		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1569T>G	3.37:g.122288505T>G			B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.G523	ENST00000296161.4	37	c.1569	CCDS3015.1	3																																																																																			DTX3L	-	NULL	ENSG00000163840		0.468	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	66	0.00	0	T	NM_138287		122288505	122288505	+1	no_errors	ENST00000296161	ensembl	human	known	69_37n	silent	39	33.90	20	SNP	0.000	G
DUSP10	11221	genome.wustl.edu	37	1	221875834	221875834	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:221875834C>G	ENST00000366899.3	-	4	1607	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q	DUSP10_ENST00000323825.3_Missense_Mutation_p.E115Q|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.E115Q	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	457					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCCTCGAACTCTAGCAACTGC	0.473																																						dbGAP											0													237.0	218.0	224.0					1																	221875834		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1369G>C	1.37:g.221875834C>G	ENSP00000355866:p.Glu457Gln		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.E457Q	ENST00000366899.3	37	c.1369	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148087	0.37923	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	D;D;D	0.87334	-2.24;-2.24;-2.24	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	L	0.41710	1.295	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.84930	0.0859	10	0.13108	T	0.6	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	457	Q9Y6W6	DUS10_HUMAN	Q	457;402;115;115	ENSP00000355866:E457Q;ENSP00000322015:E115Q;ENSP00000441302:E115Q	ENSP00000322015:E115Q	E	-	1	0	DUSP10	219942457	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	5.959000	0.70339	2.865000	0.98341	0.655000	0.94253	GAG	DUSP10	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000143507		0.473	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	130	0.00	0	C	NM_007207		221875834	221875834	-1	no_errors	ENST00000366899	ensembl	human	known	69_37n	missense	144	24.21	46	SNP	1.000	G
DYNC2H1	79659	genome.wustl.edu	37	11	103128449	103128449	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:103128449G>A	ENST00000375735.2	+	69	10718	c.10574G>A	c.(10573-10575)cGa>cAa	p.R3525Q	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3532Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3525					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTTTTCTCCGACTTTTCCAA	0.398																																						dbGAP											0													108.0	96.0	100.0					11																	103128449		1829	4086	5915	-	-	-	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10574G>A	11.37:g.103128449G>A	ENSP00000364887:p.Arg3525Gln		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R3532Q	ENST00000375735.2	37	c.10595	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498747	0.64298	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.53857	0.6;0.6	6.06	6.06	0.98353	.	0.069272	0.56097	D	0.000021	T	0.50463	0.1617	M	0.65975	2.015	0.51012	D	0.999904	B;P	0.36125	0.226;0.538	B;B	0.29353	0.03;0.101	T	0.49322	-0.8952	10	0.13853	T	0.58	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	3525;3532	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Q	3525;3532	ENSP00000364887:R3525Q;ENSP00000381167:R3532Q	ENSP00000364887:R3525Q	R	+	2	0	DYNC2H1	102633659	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.907000	0.87430	2.882000	0.98803	0.655000	0.94253	CGA	DYNC2H1	-	NULL	ENSG00000187240		0.398	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	83	0.00	0	G	XM_370652		103128449	103128449	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	missense	96	37.25	57	SNP	1.000	A
ECD	11319	genome.wustl.edu	37	10	74897829	74897829	+	Splice_Site	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:74897829C>G	ENST00000372979.4	-	12	1628		c.e12-1		ECD_ENST00000430082.2_Splice_Site|ECD_ENST00000454759.2_Splice_Site	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)						cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AGAAGGTTCTCTGCAATATTA	0.308																																						dbGAP											0													45.0	45.0	45.0					10																	74897829		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1422-1G>C	10.37:g.74897829C>G			C9JX46|E9PAW8	Splice_Site	SNP	-	e12-1	ENST00000372979.4	37	c.1521-1	CCDS7321.1	10	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793250	0.70452	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8878	0.88862	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ECD	74567835	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.141000	0.64814	2.815000	0.96918	0.650000	0.86243	.	ECD	-	-	ENSG00000122882		0.308	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECD	HGNC	protein_coding	OTTHUMT00000048606.1	40	0.00	0	C	NM_007265	Intron	74897829	74897829	-1	no_errors	ENST00000430082	ensembl	human	known	69_37n	splice_site	59	45.37	49	SNP	1.000	G
EDA2R	60401	genome.wustl.edu	37	X	65824937	65824937	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:65824937G>C	ENST00000374719.3	-	3	275	c.219C>G	c.(217-219)gtC>gtG	p.V73V	EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000456230.2_Silent_p.V73V|EDA2R_ENST00000253392.5_Silent_p.V73V|EDA2R_ENST00000396050.1_Silent_p.V73V|EDA2R_ENST00000450752.1_Silent_p.V73V	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	73					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CTGTGCAGTTGACCTTCTGAA	0.532																																						dbGAP											0													132.0	79.0	97.0					X																	65824937		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.219C>G	X.37:g.65824937G>C			Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27,pfscan_TNFR/NGFR_Cys_rich_reg	p.V73	ENST00000374719.3	37	c.219	CCDS14386.1	X																																																																																			EDA2R	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg	ENSG00000131080		0.532	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDA2R	HGNC	protein_coding	OTTHUMT00000057002.1	113	0.00	0	G	NM_021783		65824937	65824937	-1	no_errors	ENST00000253392	ensembl	human	known	69_37n	silent	44	26.67	16	SNP	0.991	C
EDC3	80153	genome.wustl.edu	37	15	74948281	74948281	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:74948281C>G	ENST00000315127.4	-	4	794	c.613G>C	c.(613-615)Gat>Cat	p.D205H	EDC3_ENST00000568176.1_Missense_Mutation_p.D205H|EDC3_ENST00000426797.3_Missense_Mutation_p.D205H	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	205	DFDF. {ECO:0000255|PROSITE- ProRule:PRU00845}.|Required for interaction with DDX6. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CCTTCAAAATCAAAATCTGTG	0.458																																						dbGAP											0													105.0	104.0	104.0					15																	74948281		2197	4296	6493	-	-	-	SO:0001583	missense	0			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.613G>C	15.37:g.74948281C>G	ENSP00000320503:p.Asp205His		B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	pfam_YjeF_N,pfam_FDF_dom,superfamily_YjeF_N	p.D205H	ENST00000315127.4	37	c.613	CCDS10267.1	15	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745430	0.89663	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.54	5.54	0.83059	DFDF motif (1);	0.049129	0.85682	D	0.000000	T	0.79924	0.4530	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.82135	-0.0607	9	0.87932	D	0	-12.2218	18.4544	0.90714	0.0:1.0:0.0:0.0	.	205	Q96F86	EDC3_HUMAN	H	205	.	ENSP00000320503:D205H	D	-	1	0	EDC3	72735334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.274000	0.78538	2.592000	0.87571	0.655000	0.94253	GAT	EDC3	-	pfam_FDF_dom	ENSG00000179151		0.458	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC3	HGNC	protein_coding	OTTHUMT00000286399.1	113	0.00	0	C	NM_025083		74948281	74948281	-1	no_errors	ENST00000315127	ensembl	human	known	69_37n	missense	103	57.72	142	SNP	1.000	G
CRACR2B	283229	genome.wustl.edu	37	11	829410	829410	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:829410C>T	ENST00000525077.1	+	3	429	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000528542.2_Missense_Mutation_p.P110S|EFCAB4A_ENST00000450448.1_Missense_Mutation_p.P110S			Q8N4Y2	EFC4A_HUMAN		110					cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAGGACTCCCGAGGAGAC	0.667																																						dbGAP											0													21.0	26.0	24.0					11																	829410		2034	4179	6213	-	-	-	SO:0001583	missense	0																														ENST00000525077.1:c.328C>T	11.37:g.829410C>T	ENSP00000435299:p.Pro110Ser		D5LPR2|Q8NBW8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.P110S	ENST00000525077.1	37	c.328		11	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762232	0.31228	.	.	ENSG00000177685	ENST00000528542;ENST00000450448;ENST00000321883;ENST00000525077	T;T;T	0.06687	3.27;3.27;3.36	4.88	-3.94	0.04130	.	0.875034	0.09696	N	0.767668	T	0.04543	0.0124	L	0.28556	0.865	0.09310	N	1	B;B;B	0.26363	0.147;0.021;0.002	B;B;B	0.21546	0.035;0.023;0.003	T	0.45381	-0.9265	10	0.19147	T	0.46	-0.3201	4.7837	0.13215	0.4955:0.311:0.0:0.1935	.	110;17;110	Q8N4Y2-3;E7EU41;Q8N4Y2	.;.;EFC4A_HUMAN	S	110	ENSP00000432334:P110S;ENSP00000409256:P110S;ENSP00000435299:P110S	ENSP00000324024:P110S	P	+	1	0	EFCAB4A	819410	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.565000	0.05929	-0.239000	0.09710	0.561000	0.74099	CCC	EFCAB4A	-	NULL	ENSG00000177685		0.667	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	EFCAB4A	HGNC	protein_coding	OTTHUMT00000383097.1	10	0.00	0	C			829410	829410	+1	no_errors	ENST00000450448	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	0.000	T
EFCAB5	374786	genome.wustl.edu	37	17	28380671	28380671	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:28380671G>C	ENST00000394835.3	+	10	1891	c.1699G>C	c.(1699-1701)Gaa>Caa	p.E567Q	EFCAB5_ENST00000320856.5_Missense_Mutation_p.E567Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.E511Q|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E567Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E567Q|EFCAB5_ENST00000541045.1_Missense_Mutation_p.E224Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	567							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACAGAACAAGAAACACACAG	0.438																																						dbGAP											0													145.0	137.0	140.0					17																	28380671		2041	4186	6227	-	-	-	SO:0001583	missense	0			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1699G>C	17.37:g.28380671G>C	ENSP00000378312:p.Glu567Gln		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E567Q	ENST00000394835.3	37	c.1699	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459100	0.43634	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.76	-1.82	0.07857	.	3.950560	0.00465	N	0.000110	T	0.28830	0.0715	N	0.14661	0.345	0.09310	N	1	P;P;P;P;P;P	0.47910	0.704;0.804;0.763;0.902;0.589;0.589	B;B;B;B;B;B	0.43301	0.17;0.32;0.229;0.415;0.293;0.229	T	0.29640	-1.0005	10	0.16896	T	0.51	0.7359	10.5074	0.44842	0.4806:0.0:0.5194:0.0	.	511;511;567;567;567;567	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	Q	511;310;224;567;567;567;567;511;373	ENSP00000440619:E511Q;ENSP00000445575:E224Q;ENSP00000378312:E567Q;ENSP00000322003:E567Q;ENSP00000378309:E567Q;ENSP00000368012:E567Q;ENSP00000417009:E373Q	ENSP00000322003:E567Q	E	+	1	0	EFCAB5	25404797	0.003000	0.15002	0.001000	0.08648	0.025000	0.11179	-0.605000	0.05661	-0.264000	0.09365	0.655000	0.94253	GAA	EFCAB5	-	NULL	ENSG00000176927		0.438	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	141	0.00	0	G	NM_198529		28380671	28380671	+1	no_errors	ENST00000394835	ensembl	human	known	69_37n	missense	128	37.86	78	SNP	0.000	C
EFEMP2	30008	genome.wustl.edu	37	11	65635373	65635373	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:65635373G>C	ENST00000307998.6	-	10	1359	c.1129C>G	c.(1129-1131)Cag>Gag	p.Q377E	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.Q377E	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	377					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCACGGATCTGAAAGGCATTG	0.557																																						dbGAP											0													100.0	98.0	99.0					11																	65635373		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1129C>G	11.37:g.65635373G>C	ENSP00000309953:p.Gln377Glu		A8K7R4|B3KM31|B3KQT1|O75967	Nonsense_Mutation	SNP	NULL	p.S2*	ENST00000307998.6	37	c.5	CCDS8116.1	11	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874884	0.51695	.	.	ENSG00000172638	ENST00000526911;ENST00000531645;ENST00000528176;ENST00000307998;ENST00000530806	D;T;D;T;T	0.83075	-1.68;-1.46;-1.52;-1.41;-0.75	5.37	4.43	0.53597	.	0.126953	0.35805	N	0.002972	T	0.73953	0.3653	L	0.42245	1.32	0.36664	D	0.878099	P;B	0.47762	0.9;0.055	B;B	0.41764	0.366;0.023	T	0.75082	-0.3443	10	0.05351	T	0.99	.	13.0248	0.58808	0.0:0.0:0.8375:0.1625	.	377;377	E9PRU1;O95967	.;FBLN4_HUMAN	E	36;93;377;377;30	ENSP00000436536:Q36E;ENSP00000436521:Q93E;ENSP00000434151:Q377E;ENSP00000309953:Q377E;ENSP00000436526:Q30E	ENSP00000309953:Q377E	Q	-	1	0	EFEMP2	65391949	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.280000	0.65603	1.223000	0.43536	0.455000	0.32223	CAG	EFEMP2	-	NULL	ENSG00000172638		0.557	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP2	HGNC	protein_coding	OTTHUMT00000391047.4	41	0.00	0	G	NM_016938		65635373	65635373	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000524408	ensembl	human	known	69_37n	nonsense	25	34.21	13	SNP	1.000	C
EIF3I	8668	genome.wustl.edu	37	1	32692099	32692099	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:32692099G>A	ENST00000373586.1	+	6	568	c.496G>A	c.(496-498)Gag>Aag	p.E166K	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CGCTGGCCATGAGAGTGGAGA	0.468																																					Colon(102;1138 2140 2180 17876)	dbGAP											0													171.0	183.0	179.0					1																	32692099		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.496G>A	1.37:g.32692099G>A	ENSP00000362688:p.Glu166Lys			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E166K	ENST00000373586.1	37	c.496	CCDS357.1	1	.	.	.	.	.	.	.	.	.	.	g	28.9	4.963805	0.92791	.	.	ENSG00000084623	ENST00000373586	T	0.81247	-1.47	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88343	0.6411	M	0.82056	2.57	0.80722	D	1	D	0.55605	0.972	P	0.58660	0.843	D	0.89599	0.3833	10	0.51188	T	0.08	-14.1093	17.4525	0.87596	0.0:0.0:1.0:0.0	.	166	Q13347	EIF3I_HUMAN	K	166	ENSP00000362688:E166K	ENSP00000362688:E166K	E	+	1	0	EIF3I	32464686	1.000000	0.71417	0.740000	0.30986	0.978000	0.69477	9.392000	0.97252	2.187000	0.69744	0.457000	0.33378	GAG	EIF3I	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000084623		0.468	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3I	HGNC	protein_coding	OTTHUMT00000019282.2	34	0.00	0	G	NM_003757		32692099	32692099	+1	no_errors	ENST00000373586	ensembl	human	known	69_37n	missense	72	22.58	21	SNP	1.000	A
ELMO1	9844	genome.wustl.edu	37	7	37354490	37354490	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:37354490C>G	ENST00000310758.4	-	4	803	c.156G>C	c.(154-156)caG>caC	p.Q52H	ELMO1_ENST00000448602.1_Missense_Mutation_p.Q52H|ELMO1_ENST00000442504.1_Missense_Mutation_p.Q52H	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	52					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TATCGGCATGCTGGAGTGCAA	0.318																																						dbGAP											0													105.0	100.0	102.0					7																	37354490		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.156G>C	7.37:g.37354490C>G	ENSP00000312185:p.Gln52His		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.Q52H	ENST00000310758.4	37	c.156	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377599	0.61735	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.72835	2.36;2.36;2.36;1.31;1.31;-0.69;0.28	4.85	0.875	0.19130	.	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	L	0.61036	1.89	0.80722	D	1	D	0.64830	0.994	P	0.60345	0.873	T	0.73585	-0.3936	10	0.72032	D	0.01	.	8.5435	0.33406	0.0:0.7148:0.0:0.2852	.	52	Q92556	ELMO1_HUMAN	H	52	ENSP00000312185:Q52H;ENSP00000406952:Q52H;ENSP00000394458:Q52H;ENSP00000406610:Q52H;ENSP00000416090:Q52H;ENSP00000391734:Q52H;ENSP00000397857:Q52H	ENSP00000312185:Q52H	Q	-	3	2	ELMO1	37321015	0.990000	0.36364	0.998000	0.56505	0.992000	0.81027	0.065000	0.14466	0.052000	0.16007	0.650000	0.86243	CAG	ELMO1	-	NULL	ENSG00000155849		0.318	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	85	0.00	0	C	NM_130442		37354490	37354490	-1	no_errors	ENST00000310758	ensembl	human	known	69_37n	missense	104	35.00	56	SNP	1.000	G
EMILIN1	11117	genome.wustl.edu	37	2	27306468	27306468	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:27306468G>A	ENST00000380320.4	+	4	2528	c.2029G>A	c.(2029-2031)Gac>Aac	p.D677N		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	677					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATCTGGCTGACCTGGGGGC	0.562																																						dbGAP											0													64.0	65.0	64.0					2																	27306468		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2029G>A	2.37:g.27306468G>A	ENSP00000369677:p.Asp677Asn		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.D677N	ENST00000380320.4	37	c.2029	CCDS1733.1	2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421634	0.83559	.	.	ENSG00000138080	ENST00000380320;ENST00000544143	T	0.64260	-0.09	4.89	4.89	0.63831	.	0.203321	0.39909	N	0.001233	T	0.67126	0.2860	L	0.27053	0.805	0.51767	D	0.999936	D	0.76494	0.999	D	0.69654	0.965	T	0.66921	-0.5801	10	0.40728	T	0.16	-32.0895	15.5879	0.76499	0.0:0.0:1.0:0.0	.	677	Q9Y6C2	EMIL1_HUMAN	N	677;3	ENSP00000369677:D677N	ENSP00000369677:D677N	D	+	1	0	EMILIN1	27159972	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	4.941000	0.63540	2.534000	0.85438	0.555000	0.69702	GAC	EMILIN1	-	NULL	ENSG00000138080		0.562	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN1	HGNC	protein_coding	OTTHUMT00000214185.1	20	0.00	0	G	NM_007046		27306468	27306468	+1	no_errors	ENST00000380320	ensembl	human	known	69_37n	missense	22	43.59	17	SNP	1.000	A
EML1	2009	genome.wustl.edu	37	14	100405619	100405619	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:100405619C>G	ENST00000262233.6	+	21	2416	c.2277C>G	c.(2275-2277)gaC>gaG	p.D759E	EML1_ENST00000327921.9_Missense_Mutation_p.D747E|EML1_ENST00000334192.4_Missense_Mutation_p.D778E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	759	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAGGCGACGACTTTGGCAAAG	0.527																																						dbGAP											0													127.0	116.0	120.0					14																	100405619		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2277C>G	14.37:g.100405619C>G	ENSP00000262233:p.Asp759Glu		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D778E	ENST00000262233.6	37	c.2334	CCDS32155.1	14	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385677	0.61956	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.40476	1.03;1.03;1.03	4.56	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.85630	2.765	0.58432	D	0.999999	P;P;P	0.50819	0.825;0.939;0.897	B;P;B	0.46850	0.346;0.529;0.346	T	0.59600	-0.7424	10	0.87932	D	0	-28.9602	8.5844	0.33649	0.0:0.761:0.0:0.239	.	747;759;778	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	E	747;759;778;778	ENSP00000327384:D747E;ENSP00000262233:D759E;ENSP00000334314:D778E	ENSP00000262233:D759E	D	+	3	2	EML1	99475372	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.065000	0.30592	2.240000	0.73641	0.561000	0.74099	GAC	EML1	-	NULL	ENSG00000066629		0.527	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1	30	0.00	0	C	NM_001008707		100405619	100405619	+1	no_errors	ENST00000334192	ensembl	human	known	69_37n	missense	31	40.38	21	SNP	1.000	G
EML1	2009	genome.wustl.edu	37	14	100406371	100406371	+	Silent	SNP	C	C	T	rs113496186		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:100406371C>T	ENST00000262233.6	+	22	2509	c.2370C>T	c.(2368-2370)gtC>gtT	p.V790V	EML1_ENST00000327921.9_Silent_p.V778V|EML1_ENST00000334192.4_Silent_p.V809V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	790	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCACCAATGTCGATTTCCTCT	0.557																																						dbGAP											0													131.0	98.0	109.0					14																	100406371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2370C>T	14.37:g.100406371C>T			Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V809	ENST00000262233.6	37	c.2427	CCDS32155.1	14																																																																																			EML1	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000066629		0.557	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1	23	0.00	0	C	NM_001008707		100406371	100406371	+1	no_errors	ENST00000334192	ensembl	human	known	69_37n	silent	31	38.00	19	SNP	0.019	T
ENPP4	22875	genome.wustl.edu	37	6	46107941	46107941	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:46107941G>C	ENST00000321037.4	+	2	851	c.621G>C	c.(619-621)ttG>ttC	p.L207F		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	207					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCAGAGTGTTGAAAAAAATAG	0.403																																						dbGAP											0													113.0	110.0	111.0					6																	46107941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.621G>C	6.37:g.46107941G>C	ENSP00000318066:p.Leu207Phe		A8K5G1|Q7L2N1	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.L207F	ENST00000321037.4	37	c.621	CCDS34468.1	6	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916928	0.52546	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.77358	-1.09	5.91	5.91	0.95273	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	M	0.91459	3.21	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.90128	0.4204	10	0.72032	D	0.01	-13.4383	13.0156	0.58754	0.1135:0.0:0.8865:0.0	.	207	Q9Y6X5	ENPP4_HUMAN	F	207	ENSP00000318066:L207F	ENSP00000318066:L207F	L	+	3	2	ENPP4	46215900	0.998000	0.40836	0.883000	0.34634	0.766000	0.43426	1.293000	0.33353	2.793000	0.96121	0.655000	0.94253	TTG	ENPP4	-	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000001561		0.403	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2	30	0.00	0	G			46107941	46107941	+1	no_errors	ENST00000321037	ensembl	human	known	69_37n	missense	48	42.17	35	SNP	0.966	C
RP1-274L7.1	0	genome.wustl.edu	37	X	129629128	129629128	+	lincRNA	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:129629128G>A	ENST00000458525.1	-	0	1067				FAM45B_ENST00000592932.1_RNA																							CCGCGGCGGCGGAAGATGGCT	0.542													-|||	1	0.000264901	0.0	0.0	3775	,	,		12899	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													46.0	48.0	47.0					X																	129629128		2203	4300	6503	-	-	-			0																															X.37:g.129629128G>A				RNA	SNP	-	NULL	ENST00000458525.1	37	NULL		X																																																																																			RP1-274L7.1	-	-	ENSG00000229702		0.542	RP1-274L7.1-001	KNOWN	basic	lincRNA	ENSG00000229702	Clone_based_vega_gene	lincRNA	OTTHUMT00000058271.1	124	0.00	0	G			129629128	129629128	-1	no_errors	ENST00000458525	ensembl	human	known	69_37n	rna	47	43.37	36	SNP	0.086	A
CTNS	1497	genome.wustl.edu	37	17	3567567	3567567	+	IGR	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:3567567C>G	ENST00000046640.3	+	0	2866				P2RX5-TAX1BP3_ENST00000550383.1_Splice_Site|TAX1BP3_ENST00000225525.3_Splice_Site	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter						adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CATAAATACCCTGGAAAGGGG	0.572																																						dbGAP											0													60.0	58.0	59.0					17																	3567567		2203	4299	6502	-	-	-	SO:0001628	intergenic_variant	0			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693		17.37:g.3567567C>G			D3DTJ5|Q8IZ01|Q9UNK6	Splice_Site	SNP	-	e13-1	ENST00000046640.3	37	c.1299-1	CCDS11031.1	17	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220978	0.79464	.	.	ENSG00000213977	ENST00000225525	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0822	0.89444	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAX1BP3	3514316	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.408000	0.80041	2.688000	0.91661	0.561000	0.74099	.	RP11-48B14.2	-	-	ENSG00000257950		0.572	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENSG00000257950	Clone_based_vega_gene	protein_coding	OTTHUMT00000317696.1	29	0.00	0	C	NM_004937		3567567	3567567	-1	no_errors	ENST00000550383	ensembl	human	known	69_37n	splice_site	22	43.59	17	SNP	1.000	G
ENTHD1	150350	genome.wustl.edu	37	22	40161418	40161418	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:40161418G>C	ENST00000325157.6	-	6	1279	c.1029C>G	c.(1027-1029)atC>atG	p.I343M		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	343										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGTCGGGGCTGATAAACTCCT	0.403																																						dbGAP											0													111.0	106.0	107.0					22																	40161418		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1029C>G	22.37:g.40161418G>C	ENSP00000317431:p.Ile343Met		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.I343M	ENST00000325157.6	37	c.1029	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587661	0.46110	.	.	ENSG00000176177	ENST00000325157	T	0.54279	0.58	5.91	2.73	0.32206	.	0.575458	0.16501	N	0.211658	T	0.53270	0.1786	L	0.32530	0.975	0.09310	N	1	D	0.63880	0.993	P	0.61397	0.888	T	0.32375	-0.9909	10	0.36615	T	0.2	-6.1271	7.8681	0.29549	0.2365:0.0:0.7635:0.0	.	343	Q8IYW4	ENTD1_HUMAN	M	343	ENSP00000317431:I343M	ENSP00000317431:I343M	I	-	3	3	ENTHD1	38491364	0.000000	0.05858	0.023000	0.16930	0.776000	0.43924	0.093000	0.15086	1.507000	0.48752	0.655000	0.94253	ATC	ENTHD1	-	NULL	ENSG00000176177		0.403	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	88	0.00	0	G	NM_152512		40161418	40161418	-1	no_errors	ENST00000325157	ensembl	human	known	69_37n	missense	54	33.33	27	SNP	0.011	C
ENTPD7	57089	genome.wustl.edu	37	10	101460771	101460771	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:101460771C>G	ENST00000370489.4	+	11	1555	c.1377C>G	c.(1375-1377)ttC>ttG	p.F459L		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	459						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTCAGAGATTCAAGAATGGCC	0.428																																						dbGAP											0													360.0	319.0	333.0					10																	101460771		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1377C>G	10.37:g.101460771C>G	ENSP00000359520:p.Phe459Leu		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.F459L	ENST00000370489.4	37	c.1377	CCDS7480.1	10	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736774	0.49045	.	.	ENSG00000198018	ENST00000370489	T	0.11063	2.81	5.21	4.3	0.51218	.	0.056019	0.64402	D	0.000001	T	0.11067	0.0270	L	0.50333	1.59	0.46631	D	0.999136	B	0.21381	0.055	B	0.24006	0.05	T	0.08576	-1.0715	10	0.29301	T	0.29	-26.5929	9.7377	0.40397	0.0:0.8414:0.0:0.1586	.	459	Q9NQZ7	ENTP7_HUMAN	L	459	ENSP00000359520:F459L	ENSP00000359520:F459L	F	+	3	2	ENTPD7	101450761	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.509000	0.35780	1.422000	0.47177	0.643000	0.83706	TTC	ENTPD7	-	pfam_GDA1_CD39_NTPase	ENSG00000198018		0.428	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD7	HGNC	protein_coding	OTTHUMT00000049809.2	184	0.00	0	C	NM_020354		101460771	101460771	+1	no_errors	ENST00000370489	ensembl	human	known	69_37n	missense	115	42.21	84	SNP	1.000	G
EPG5	57724	genome.wustl.edu	37	18	43440250	43440250	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr18:43440250C>G	ENST00000282041.5	-	40	6862	c.6828G>C	c.(6826-6828)atG>atC	p.M2276I	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2276					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CGTTGTTCATCATCATCAGGA	0.517																																						dbGAP											0													95.0	96.0	95.0					18																	43440250		2078	4207	6285	-	-	-	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6828G>C	18.37:g.43440250C>G	ENSP00000282041:p.Met2276Ile		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.M2276I	ENST00000282041.5	37	c.6828	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	9.531	1.110828	0.20714	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.09445	2.98	5.59	5.59	0.84812	.	.	.	.	.	T	0.11153	0.0272	L	0.46157	1.445	0.38929	D	0.957897	B	0.30146	0.27	B	0.27500	0.08	T	0.15492	-1.0435	9	0.20519	T	0.43	-17.5924	14.4348	0.67274	0.1473:0.8527:0.0:0.0	.	2276	Q9HCE0	EPG5_HUMAN	I	2276;204;1151	ENSP00000282041:M2276I	ENSP00000282041:M2276I	M	-	3	0	EPG5	41694248	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	3.861000	0.56002	2.608000	0.88229	0.655000	0.94253	ATG	EPG5	-	NULL	ENSG00000152223		0.517	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	149	0.00	0	C	NM_020964		43440250	43440250	-1	no_errors	ENST00000282041	ensembl	human	known	69_37n	missense	21	70.42	50	SNP	1.000	G
EPHA7	2045	genome.wustl.edu	37	6	93979356	93979356	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:93979356G>C	ENST00000369303.4	-	7	1656	c.1472C>G	c.(1471-1473)tCa>tGa	p.S491*		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	491	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTTACTGTTGAGTAGGTCCG	0.368																																						dbGAP											0													146.0	147.0	147.0					6																	93979356		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1472C>G	6.37:g.93979356G>C	ENSP00000358309:p.Ser491*		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.S491*	ENST00000369303.4	37	c.1472	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.016446	0.98610	.	.	ENSG00000135333	ENST00000369303	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	X	491	.	ENSP00000358309:S491X	S	-	2	0	EPHA7	94036077	1.000000	0.71417	0.973000	0.42090	0.975000	0.68041	6.261000	0.72509	2.840000	0.97914	0.655000	0.94253	TCA	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000135333		0.368	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	52	0.00	0	G			93979356	93979356	-1	no_errors	ENST00000369303	ensembl	human	known	69_37n	nonsense	73	37.07	43	SNP	1.000	C
EPHX2	2053	genome.wustl.edu	37	8	27358452	27358452	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:27358452G>C	ENST00000521400.1	+	2	541	c.111G>C	c.(109-111)ctG>ctC	p.L37L	EPHX2_ENST00000518379.1_Silent_p.L37L|EPHX2_ENST00000380476.3_Intron|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Intron|EPHX2_ENST00000517536.1_Silent_p.L37L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	37	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		GAGGACTTCTGAATGATGCTT	0.478																																						dbGAP											0													109.0	112.0	111.0					8																	27358452		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.111G>C	8.37:g.27358452G>C			B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Nonstop_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.*37S	ENST00000521400.1	37	c.110	CCDS6060.1	8	.	.	.	.	.	.	.	.	.	.	G	0.380	-0.929138	0.02359	.	.	ENSG00000120915	ENST00000521684	.	.	.	4.33	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.4706	6.4202	0.21740	0.2231:0.0:0.7769:0.0	.	.	.	.	S	37	.	.	X	+	2	2	EPHX2	27414369	0.285000	0.24296	0.752000	0.31206	0.109000	0.19521	0.306000	0.19279	1.131000	0.42111	0.467000	0.42956	TGA	EPHX2	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom	ENSG00000120915		0.478	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX2	HGNC	protein_coding	OTTHUMT00000219954.4	76	0.00	0	G			27358452	27358452	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000521684	ensembl	human	putative	69_37n	nonstop	47	41.98	34	SNP	0.780	C
EPRS	2058	genome.wustl.edu	37	1	220198564	220198564	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:220198564C>T	ENST00000366923.3	-	7	929	c.660G>A	c.(658-660)ctG>ctA	p.L220L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	220	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AGTGCTGGTTCAGAAGAGCAG	0.313																																						dbGAP											0													113.0	108.0	110.0					1																	220198564		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.660G>A	1.37:g.220198564C>T			A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_synth_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.L220	ENST00000366923.3	37	c.660	CCDS31027.1	1																																																																																			EPRS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Glu-tRNA-synth_Ib_arc/euk	ENSG00000136628		0.313	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	70	0.00	0	C	NM_004446		220198564	220198564	-1	no_errors	ENST00000366923	ensembl	human	known	69_37n	silent	175	23.25	53	SNP	1.000	T
EPT1	85465	genome.wustl.edu	37	2	26609336	26609336	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:26609336G>C	ENST00000260585.7	+	9	1146	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	343					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										CTCTTACGTTGAGAGCATTCT	0.428																																						dbGAP											0													143.0	134.0	137.0					2																	26609336		1879	4119	5998	-	-	-	SO:0001583	missense	0				CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.1027G>C	2.37:g.26609336G>C	ENSP00000260585:p.Glu343Gln		Q63ZE3	Missense_Mutation	SNP	pfam_CDP-OH_P_trans,pirsf_CHOPT	p.E343Q	ENST00000260585.7	37	c.1027	CCDS46240.1	2	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576803	0.65878	.	.	ENSG00000138018	ENST00000260585	T	0.49720	0.77	6.06	6.06	0.98353	.	0.054903	0.64402	D	0.000001	T	0.72382	0.3453	M	0.85630	2.765	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.74179	-0.3749	10	0.54805	T	0.06	-4.9692	16.1209	0.81357	0.0:0.0:1.0:0.0	.	343	Q9C0D9	EPT1_HUMAN	Q	343	ENSP00000260585:E343Q	ENSP00000260585:E343Q	E	+	1	0	EPT1	26462840	1.000000	0.71417	0.961000	0.40146	0.037000	0.13140	8.153000	0.89640	2.882000	0.98803	0.655000	0.94253	GAG	EPT1	-	pirsf_CHOPT	ENSG00000138018		0.428	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	EPT1	HGNC	protein_coding	OTTHUMT00000324484.3	83	0.00	0	G	NM_033505.2		26609336	26609336	+1	pseudogene	ENST00000260585	ensembl	human	known	69_37n	missense	98	40.96	68	SNP	0.999	C
ERC2	26059	genome.wustl.edu	37	3	55922574	55922574	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:55922574C>G	ENST00000288221.6	-	14	2662	c.2407G>C	c.(2407-2409)Gag>Cag	p.E803Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	803						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATCAGTTCCTCTATCTGAAAG	0.488																																						dbGAP											0													204.0	206.0	206.0					3																	55922574		2045	4196	6241	-	-	-	SO:0001583	missense	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2407G>C	3.37:g.55922574C>G	ENSP00000288221:p.Glu803Gln		Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.E803Q	ENST00000288221.6	37	c.2407	CCDS46851.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.887358|4.887358	0.91814|0.91814	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.41400|.	1.0|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.109870|.	0.64402|.	D|.	0.000010|.	T|.	0.75968|.	0.3922|.	M|M	0.65975|0.65975	2.015|2.015	0.51012|0.51012	D|D	0.999906|0.999906	D|.	0.62365|.	0.991|.	D|.	0.74023|.	0.982|.	T|.	0.72239|.	-0.4351|.	10|.	0.33940|.	T|.	0.23|.	-21.1951|-21.1951	20.3312|20.3312	0.98718|0.98718	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	803|.	O15083|.	ERC2_HUMAN|.	Q|Y	803|449	ENSP00000288221:E803Q|.	ENSP00000288221:E803Q|.	E|X	-|-	1|3	0|2	ERC2|ERC2	55897614|55897614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.487000|7.487000	0.81328|0.81328	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	GAG|TAG	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000187672		0.488	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	238	0.00	0	C	NM_015576		55922574	55922574	-1	no_errors	ENST00000288221	ensembl	human	known	69_37n	missense	103	42.46	76	SNP	1.000	G
ERCC6	2074	genome.wustl.edu	37	10	50668447	50668447	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:50668447G>A	ENST00000355832.5	-	20	4112	c.4034C>T	c.(4033-4035)tCa>tTa	p.S1345L	ERCC6_ENST00000465653.1_5'UTR|ERCC6_ENST00000542458.1_Missense_Mutation_p.S715L|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1345					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGATGTTGATGAAGGATGCTG	0.368								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													118.0	117.0	118.0					10																	50668447		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4034C>T	10.37:g.50668447G>A	ENSP00000348089:p.Ser1345Leu		D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1345L	ENST00000355832.5	37	c.4034	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	G	8.195	0.796920	0.16327	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83755	-1.76;-1.49	5.45	3.59	0.41128	.	.	.	.	.	T	0.80560	0.4646	M	0.74881	2.28	0.09310	N	1	B;B	0.30763	0.294;0.294	B;B	0.22152	0.038;0.038	T	0.69584	-0.5106	9	0.34782	T	0.22	-2.0691	12.0291	0.53388	0.1419:0.0:0.8581:0.0	.	1345;722	Q03468;Q59FF6	ERCC6_HUMAN;.	L	1345;722;715	ENSP00000348089:S1345L;ENSP00000445134:S715L	ENSP00000348089:S1345L	S	-	2	0	ERCC6	50338453	0.170000	0.23016	0.045000	0.18777	0.036000	0.12997	0.976000	0.29462	1.312000	0.45043	0.561000	0.74099	TCA	ERCC6	-	NULL	ENSG00000225830		0.368	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	92	0.00	0	G	NM_000124		50668447	50668447	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	missense	38	39.68	25	SNP	0.107	A
ERMAP	114625	genome.wustl.edu	37	1	43296734	43296734	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:43296734G>C	ENST00000372517.2	+	4	625	c.381G>C	c.(379-381)ctG>ctC	p.L127L	ERMAP_ENST00000372514.3_Silent_p.L127L|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000328249.3_Silent_p.L37L	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	127	Ig-like V-type.		Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGATGTCTGATCCAAGTTG	0.517																																						dbGAP											0													119.0	103.0	108.0					1																	43296734		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.381G>C	1.37:g.43296734G>C			D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.L127	ENST00000372517.2	37	c.381	CCDS475.1	1																																																																																			ERMAP	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000164010		0.517	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMAP	HGNC	protein_coding	OTTHUMT00000020180.1	63	0.00	0	G	NM_018538		43296734	43296734	+1	no_errors	ENST00000372514	ensembl	human	known	69_37n	silent	57	20.55	15	SNP	0.129	C
EVPL	2125	genome.wustl.edu	37	17	74004966	74004966	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:74004966C>T	ENST00000301607.3	-	22	4573	c.4320G>A	c.(4318-4320)cgG>cgA	p.R1440R	EVPL_ENST00000586740.1_Silent_p.R1462R|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1440	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGTCAGCTGCCGCAGCTCCC	0.647																																						dbGAP											0													70.0	73.0	72.0					17																	74004966		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4320G>A	17.37:g.74004966C>T			A0AUV5	Silent	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R1440	ENST00000301607.3	37	c.4320	CCDS11737.1	17																																																																																			EVPL	-	NULL	ENSG00000167880		0.647	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	40	0.00	0	C	NM_001988		74004966	74004966	-1	no_errors	ENST00000301607	ensembl	human	known	69_37n	silent	37	27.45	14	SNP	0.995	T
EXOC2	55770	genome.wustl.edu	37	6	491139	491139	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:491139C>T	ENST00000230449.4	-	26	2742	c.2607G>A	c.(2605-2607)ctG>ctA	p.L869L	EXOC2_ENST00000448181.3_Silent_p.L464L	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	869					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTCGGGTGTCAGGTAAACAG	0.373																																						dbGAP											0													146.0	150.0	149.0					6																	491139		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2607G>A	6.37:g.491139C>T			B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.L869	ENST00000230449.4	37	c.2607	CCDS34327.1	6																																																																																			EXOC2	-	NULL	ENSG00000112685		0.373	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	HGNC	protein_coding	OTTHUMT00000039627.1	63	0.00	0	C	NM_018303		491139	491139	-1	no_errors	ENST00000230449	ensembl	human	known	69_37n	silent	37	40.32	25	SNP	0.997	T
EXOC2	55770	genome.wustl.edu	37	6	637808	637808	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:637808G>C	ENST00000230449.4	-	2	146	c.11C>G	c.(10-12)tCa>tGa	p.S4*	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	4					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GGGTTGTCGTGATCGAGACAT	0.478																																						dbGAP											0													116.0	115.0	115.0					6																	637808		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.11C>G	6.37:g.637808G>C	ENSP00000230449:p.Ser4*		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Nonsense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.S4*	ENST00000230449.4	37	c.11	CCDS34327.1	6	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066930	0.55539	.	.	ENSG00000112685	ENST00000230449;ENST00000443083	.	.	.	5.29	1.55	0.23275	.	0.406926	0.27773	N	0.017905	.	.	.	.	.	.	0.23685	N	0.997118	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-0.0811	9.7591	0.40522	0.2773:0.0:0.7227:0.0	.	.	.	.	X	4	.	ENSP00000230449:S4X	S	-	2	0	EXOC2	582808	0.717000	0.27966	0.001000	0.08648	0.298000	0.27526	3.644000	0.54381	0.064000	0.16427	-0.253000	0.11424	TCA	EXOC2	-	superfamily_Ig_E-set	ENSG00000112685		0.478	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	HGNC	protein_coding	OTTHUMT00000039627.1	34	0.00	0	G	NM_018303		637808	637808	-1	no_errors	ENST00000230449	ensembl	human	known	69_37n	nonsense	12	45.45	10	SNP	0.038	C
FAAH	2166	genome.wustl.edu	37	1	46871175	46871175	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:46871175C>G	ENST00000243167.8	+	4	660	c.576C>G	c.(574-576)ttC>ttG	p.F192L	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	192					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	AGTCCATGTTCAGGTTGGGTC	0.637																																						dbGAP											0													76.0	79.0	78.0					1																	46871175		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.576C>G	1.37:g.46871175C>G	ENSP00000243167:p.Phe192Leu		D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	p.F192L	ENST00000243167.8	37	c.576	CCDS535.1	1	.	.	.	.	.	.	.	.	.	.	C	0.395	-0.921515	0.02396	.	.	ENSG00000117480	ENST00000243167	T	0.54866	0.55	4.19	3.23	0.37069	Amidase signature domain (2);	0.393060	0.27778	N	0.017895	T	0.18923	0.0454	N	0.01789	-0.72	0.33279	D	0.562067	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	10	0.02654	T	1	-25.4642	7.0183	0.24900	0.4314:0.3452:0.2234:0.0	.	192	O00519	FAAH1_HUMAN	L	192	ENSP00000243167:F192L	ENSP00000243167:F192L	F	+	3	2	FAAH	46643762	0.971000	0.33674	1.000000	0.80357	0.499000	0.33736	0.110000	0.15437	0.909000	0.36697	0.313000	0.20887	TTC	FAAH	-	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	ENSG00000117480		0.637	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH	HGNC	protein_coding	OTTHUMT00000021443.1	33	0.00	0	C	NM_001441		46871175	46871175	+1	no_errors	ENST00000243167	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.999	G
FABP12	646486	genome.wustl.edu	37	8	82441796	82441796	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:82441796C>T	ENST00000360464.4	-	2	185	c.123G>A	c.(121-123)gtG>gtA	p.V41V	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	41							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						TACTGATGGTCACAGTGGGTT	0.378																																						dbGAP											0													104.0	97.0	99.0					8																	82441796		1845	4093	5938	-	-	-	SO:0001819	synonymous_variant	0				CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.123G>A	8.37:g.82441796C>T			B7SUN0	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	p.D26N	ENST00000360464.4	37	c.76	CCDS47882.1	8																																																																																			FABP12	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000197416		0.378	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP12	HGNC	protein_coding	OTTHUMT00000379720.1	87	0.00	0	C	NM_001105281		82441796	82441796	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000519696	ensembl	human	known	69_37n	missense	81	35.20	44	SNP	0.949	T
FABP7	2173	genome.wustl.edu	37	6	123101495	123101495	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:123101495C>G	ENST00000368444.3	+	2	453	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	FABP7_ENST00000356535.4_Missense_Mutation_p.Q45E	NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	45					cell proliferation in forebrain (GO:0021846)|epithelial cell proliferation (GO:0050673)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|prepulse inhibition (GO:0060134)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Dihomo-gamma-linolenic acid(DB00154)|Icosapent(DB00159)	AATTATCAGTCAAGAAGGAGA	0.473																																						dbGAP											0													96.0	91.0	93.0					6																	123101495		2203	4300	6503	-	-	-	SO:0001583	missense	0			D88648	CCDS5127.1	6q22-q23	2013-03-01			ENSG00000164434	ENSG00000164434		"""Fatty acid binding protein family"""	3562	protein-coding gene	gene with protein product	"""brain lipid binding protein"""	602965				9375786	Standard	NM_001446		Approved	B-FABP, BLBP	uc003pzf.3	O15540	OTTHUMG00000015489	ENST00000368444.3:c.133C>G	6.37:g.123101495C>G	ENSP00000357429:p.Gln45Glu		B2R4L1|O14951|Q6IAU7|Q9H047	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.Q45E	ENST00000368444.3	37	c.133	CCDS5127.1	6	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173589	0.21704	.	.	ENSG00000164434	ENST00000368444;ENST00000356535	T;T	0.08896	3.04;3.04	5.54	5.54	0.83059	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.309654	0.37053	N	0.002269	T	0.03477	0.0100	L	0.46947	1.48	0.34519	D	0.707943	B;B;B	0.27823	0.002;0.131;0.19	B;B;B	0.32393	0.021;0.145;0.135	T	0.10870	-1.0611	10	0.05959	T	0.93	.	15.5398	0.76035	0.1464:0.8536:0.0:0.0	.	45;51;45	O15540;Q59HE4;Q9H047	FABP7_HUMAN;.;.	E	45	ENSP00000357429:Q45E;ENSP00000348931:Q45E	ENSP00000348931:Q45E	Q	+	1	0	FABP7	123143194	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	2.554000	0.45845	2.751000	0.94390	0.563000	0.77884	CAA	FABP7	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000164434		0.473	FABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP7	HGNC	protein_coding	OTTHUMT00000042037.1	58	0.00	0	C	NM_001446		123101495	123101495	+1	no_errors	ENST00000356535	ensembl	human	known	69_37n	missense	43	36.76	25	SNP	1.000	G
FABP9	646480	genome.wustl.edu	37	8	82371455	82371455	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:82371455G>C	ENST00000379071.2	-	2	246	c.191C>G	c.(190-192)tCc>tGc	p.S64C	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	64					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			CAGCTTGAAGGAGATCTTAGT	0.408																																						dbGAP											0													197.0	190.0	193.0					8																	82371455		2203	4300	6503	-	-	-	SO:0001583	missense	0					8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"""Fatty acid binding protein family"""	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.191C>G	8.37:g.82371455G>C	ENSP00000368362:p.Ser64Cys			Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.S64C	ENST00000379071.2	37	c.191		8	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547344	0.45383	.	.	ENSG00000205186	ENST00000379071	T	0.09445	2.98	5.11	3.28	0.37604	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.174758	0.48286	N	0.000196	T	0.30039	0.0752	M	0.67569	2.06	0.34144	D	0.666729	D	0.89917	1.0	D	0.79784	0.993	T	0.46359	-0.9197	10	0.62326	D	0.03	.	14.2234	0.65843	0.0:0.4325:0.5675:0.0	.	64	Q0Z7S8	FABP9_HUMAN	C	64	ENSP00000368362:S64C	ENSP00000368362:S64C	S	-	2	0	FABP9	82534010	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	2.761000	0.47589	0.705000	0.31890	0.655000	0.94253	TCC	FABP9	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	ENSG00000205186		0.408	FABP9-001	KNOWN	basic|appris_principal	protein_coding	FABP9	HGNC	protein_coding	OTTHUMT00000379367.2	83	0.00	0	G	NM_001080526		82371455	82371455	-1	no_errors	ENST00000379071	ensembl	human	known	69_37n	missense	96	36.42	55	SNP	1.000	C
FAM111B	374393	genome.wustl.edu	37	11	58877147	58877147	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:58877147G>C	ENST00000343597.3	+	3	240	c.49G>C	c.(49-51)Gat>Cat	p.D17H	FAM111B_ENST00000411426.1_Intron|FAM111B_ENST00000529618.1_Intron	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	17							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CGCTATGGAAGATGACCAGAG	0.373																																						dbGAP											0													111.0	100.0	104.0					11																	58877147		2201	4295	6496	-	-	-	SO:0001583	missense	0			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.49G>C	11.37:g.58877147G>C	ENSP00000341565:p.Asp17His		B4E2G2|Q6P661	Missense_Mutation	SNP	superfamily_Pept_cys/ser_Trypsin-like	p.D17H	ENST00000343597.3	37	c.49	CCDS7972.1	11	.	.	.	.	.	.	.	.	.	.	G	2.906	-0.226455	0.06022	.	.	ENSG00000189057	ENST00000343597	T	0.32753	1.44	1.65	-2.82	0.05787	.	.	.	.	.	T	0.11750	0.0286	N	0.08118	0	0.09310	N	0.999999	B	0.21753	0.06	B	0.11329	0.006	T	0.18366	-1.0339	9	0.42905	T	0.14	.	2.1013	0.03681	0.318:0.0:0.1928:0.4893	.	17	Q6SJ93	F111B_HUMAN	H	17	ENSP00000341565:D17H	ENSP00000341565:D17H	D	+	1	0	FAM111B	58633723	0.012000	0.17670	0.016000	0.15963	0.003000	0.03518	-0.254000	0.08781	-0.794000	0.04468	-0.378000	0.06908	GAT	FAM111B	-	NULL	ENSG00000189057		0.373	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	HGNC	protein_coding	OTTHUMT00000393974.1	40	0.00	0	G	NM_198947		58877147	58877147	+1	no_errors	ENST00000343597	ensembl	human	known	69_37n	missense	43	52.22	47	SNP	0.017	C
FAM117B	150864	genome.wustl.edu	37	2	203630268	203630268	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:203630268C>T	ENST00000392238.2	+	8	1551	c.1551C>T	c.(1549-1551)atC>atT	p.I517I	FAM117B_ENST00000303116.6_Silent_p.I273I			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	517										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCGTCAGCATCCTCAAGCCAC	0.498																																						dbGAP											0													128.0	121.0	123.0					2																	203630268		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1551C>T	2.37:g.203630268C>T			Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Silent	SNP	NULL	p.I517	ENST00000392238.2	37	c.1551	CCDS33362.2	2																																																																																			FAM117B	-	NULL	ENSG00000138439		0.498	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117B	HGNC	protein_coding	OTTHUMT00000335888.3	61	0.00	0	C	NM_173511		203630268	203630268	+1	no_errors	ENST00000392238	ensembl	human	known	69_37n	silent	38	30.91	17	SNP	1.000	T
FAM160A1	729830	genome.wustl.edu	37	4	152498781	152498781	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:152498781G>A	ENST00000505231.1	+	3	444	c.285G>A	c.(283-285)gaG>gaA	p.E95E	FAM160A1_ENST00000435205.1_Silent_p.E95E|RN7SKP35_ENST00000517210.1_RNA			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	95										endometrium(2)|kidney(1)	3						TGGTCTCTGAGAACATCATGG	0.438																																						dbGAP											0													128.0	106.0	113.0					4																	152498781		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.285G>A	4.37:g.152498781G>A			Q6ZUS2	Silent	SNP	pfam_RetinoicA-induced_16-like	p.E95	ENST00000505231.1	37	c.285	CCDS47146.1	4																																																																																			FAM160A1	-	pfam_RetinoicA-induced_16-like	ENSG00000164142		0.438	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160A1	HGNC	protein_coding	OTTHUMT00000365691.1	124	0.00	0	G	NM_001109977		152498781	152498781	+1	no_errors	ENST00000435205	ensembl	human	known	69_37n	silent	23	56.60	30	SNP	1.000	A
FAM171A2	284069	genome.wustl.edu	37	17	42432501	42432501	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:42432501C>T	ENST00000293443.7	-	8	1241	c.1081G>A	c.(1081-1083)Gac>Aac	p.D361N		NM_198475.2	NP_940877.2	A8MVW0	F1712_HUMAN	family with sequence similarity 171, member A2	361						integral component of membrane (GO:0016021)											TTGTTACCGTCAGAGGGCCCC	0.682																																						dbGAP											0													30.0	29.0	29.0					17																	42432501		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45701.1	17q21.31	2008-06-16			ENSG00000161682	ENSG00000161682			30480	protein-coding gene	gene with protein product						12477932	Standard	NM_198475		Approved	MGC34829	uc002igs.2	A8MVW0	OTTHUMG00000132421	ENST00000293443.7:c.1081G>A	17.37:g.42432501C>T	ENSP00000293443:p.Asp361Asn		A8MQB4	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171,superfamily_Collagen-bd_Cna_B-typ_dom	p.D361N	ENST00000293443.7	37	c.1081	CCDS45701.1	17	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237257	0.39498	.	.	ENSG00000161682	ENST00000293443	T	0.35236	1.32	5.25	5.25	0.73442	.	0.403701	0.21470	U	0.074001	T	0.26702	0.0653	N	0.16656	0.425	0.38589	D	0.950384	B	0.15141	0.012	B	0.21360	0.034	T	0.08534	-1.0717	10	0.24483	T	0.36	-23.2233	17.6259	0.88093	0.0:1.0:0.0:0.0	.	361	A8MVW0	F1712_HUMAN	N	361	ENSP00000293443:D361N	ENSP00000293443:D361N	D	-	1	0	FAM171A2	39788027	1.000000	0.71417	0.136000	0.22124	0.924000	0.55760	4.755000	0.62198	2.459000	0.83118	0.448000	0.29417	GAC	FAM171A2	-	pfam_Uncharacterised_FAM171	ENSG00000161682		0.682	FAM171A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A2	HGNC	protein_coding	OTTHUMT00000255559.2	16	0.00	0	C	NM_198475		42432501	42432501	-1	no_errors	ENST00000293443	ensembl	human	known	69_37n	missense	1	83.33	5	SNP	0.921	T
FAM189A1	23359	genome.wustl.edu	37	15	29674025	29674025	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:29674025G>A	ENST00000261275.4	-	2	229	c.230C>T	c.(229-231)tCg>tTg	p.S77L	FAM189A1_ENST00000560050.1_5'UTR	NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1	77						integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						TATGAGTCCCGACAGCAGCAC	0.542																																						dbGAP											0													75.0	73.0	73.0					15																	29674025		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.230C>T	15.37:g.29674025G>A	ENSP00000261275:p.Ser77Leu		A0PK09	Missense_Mutation	SNP	pfam_CD20-like	p.S77L	ENST00000261275.4	37	c.230	CCDS45198.1	15	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226540	0.39300	.	.	ENSG00000104059	ENST00000261275	T	0.03272	3.99	4.93	4.93	0.64822	.	.	.	.	.	T	0.15825	0.0381	M	0.66939	2.045	0.44627	D	0.997603	D	0.89917	1.0	D	0.85130	0.997	T	0.00098	-1.2070	9	0.87932	D	0	.	13.6257	0.62163	0.0:0.0:1.0:0.0	.	77	O60320	F1891_HUMAN	L	77	ENSP00000261275:S77L	ENSP00000261275:S77L	S	-	2	0	FAM189A1	27461317	1.000000	0.71417	0.957000	0.39632	0.230000	0.25150	5.143000	0.64826	2.276000	0.75962	0.655000	0.94253	TCG	FAM189A1	-	pfam_CD20-like	ENSG00000104059		0.542	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A1	HGNC	protein_coding	OTTHUMT00000417254.1	81	0.00	0	G	NM_015307		29674025	29674025	-1	no_errors	ENST00000261275	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	0.986	A
FAM212B	55924	genome.wustl.edu	37	1	112270146	112270146	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:112270146C>T	ENST00000357260.5	-	2	519	c.338G>A	c.(337-339)gGa>gAa	p.G113E	FAM212B_ENST00000444059.2_Missense_Mutation_p.G98E|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	113										cervix(1)|endometrium(1)	2						TAAATCCCTTCCACAGACACT	0.592																																						dbGAP											0													82.0	73.0	76.0					1																	112270146		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.338G>A	1.37:g.112270146C>T	ENSP00000349805:p.Gly113Glu		B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	NULL	p.G113E	ENST00000357260.5	37	c.338	CCDS841.1	1	.	.	.	.	.	.	.	.	.	.	C	9.417	1.082128	0.20309	.	.	ENSG00000197852	ENST00000357260;ENST00000444059;ENST00000527621	.	.	.	4.66	1.66	0.24008	.	0.407958	0.23345	N	0.049193	T	0.13243	0.0321	L	0.42245	1.32	0.09310	N	1	B;B	0.18461	0.028;0.01	B;B	0.23018	0.043;0.018	T	0.24870	-1.0148	9	0.39692	T	0.17	-15.8288	5.1667	0.15088	0.1497:0.6237:0.1447:0.0819	.	98;113	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	E	113;98;122	.	ENSP00000349805:G113E	G	-	2	0	C1orf183	112071669	0.000000	0.05858	0.035000	0.18076	0.180000	0.23129	0.513000	0.22770	0.164000	0.19529	-0.350000	0.07774	GGA	FAM212B	-	NULL	ENSG00000197852		0.592	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM212B	HGNC	protein_coding	OTTHUMT00000033060.2	75	0.00	0	C	NM_019099		112270146	112270146	-1	no_errors	ENST00000357260	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.041	T
FAM219B	57184	genome.wustl.edu	37	15	75198649	75198649	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:75198649G>A	ENST00000357635.5	-	2	592	c.272C>T	c.(271-273)tCg>tTg	p.S91L	FAM219B_ENST00000457294.2_Missense_Mutation_p.S91L|FAM219B_ENST00000565772.1_Missense_Mutation_p.S5L|FAM219B_ENST00000563706.1_5'Flank|FAM219B_ENST00000563119.1_Missense_Mutation_p.S91L	NM_020447.3	NP_065180.1	Q5XKK7	F219B_HUMAN	family with sequence similarity 219, member B	91																	GCGGTTCGGCGAGGCCCCCAG	0.622																																						dbGAP											0													29.0	28.0	28.0					15																	75198649		2197	4295	6492	-	-	-	SO:0001583	missense	0			AK000005	CCDS32295.1	15q23	2012-03-06	2012-03-06	2012-03-06	ENSG00000178761	ENSG00000178761			24695	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 17"""	C15orf17		11214971	Standard	NM_020447		Approved	FLJ00005	uc002azh.4	Q5XKK7	OTTHUMG00000172715	ENST00000357635.5:c.272C>T	15.37:g.75198649G>A	ENSP00000350260:p.Ser91Leu		A8K4Q5|B4DK57|Q9NXY0	Missense_Mutation	SNP	NULL	p.S91L	ENST00000357635.5	37	c.272	CCDS32295.1	15	.	.	.	.	.	.	.	.	.	.	G	14.08	2.430130	0.43122	.	.	ENSG00000178761	ENST00000357635;ENST00000457294	.	.	.	5.35	4.38	0.52667	.	1.628090	0.03488	N	0.216183	T	0.29256	0.0728	N	0.12182	0.205	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.06405	0.002;0.001	T	0.18777	-1.0326	9	0.33141	T	0.24	-0.0472	8.2556	0.31754	0.1252:0.0:0.8748:0.0	.	91;91	D3DW69;Q5XKK7	.;CO017_HUMAN	L	91	.	ENSP00000350260:S91L	S	-	2	0	C15orf17	72985702	0.050000	0.20438	0.124000	0.21820	0.964000	0.63967	1.787000	0.38704	1.099000	0.41499	0.555000	0.69702	TCG	FAM219B	-	NULL	ENSG00000178761		0.622	FAM219B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM219B	HGNC	protein_coding	OTTHUMT00000420165.1	12	0.00	0	G	NM_020447		75198649	75198649	-1	no_errors	ENST00000357635	ensembl	human	known	69_37n	missense	9	60.87	14	SNP	0.111	A
NUTM2F	54754	genome.wustl.edu	37	9	97083438	97083438	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:97083438G>C	ENST00000253262.4	-	4	939	c.919C>G	c.(919-921)Cct>Gct	p.P307A	NUTM2F_ENST00000335456.7_Missense_Mutation_p.P307A|NUTM2F_ENST00000341207.4_Missense_Mutation_p.P307A	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	307	Pro-rich.																GGGGCTGGAGGAGGCAGGCTC	0.612																																						dbGAP											0													3.0	3.0	3.0					9																	97083438		905	1997	2902	-	-	-	SO:0001583	missense	0				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.919C>G	9.37:g.97083438G>C	ENSP00000253262:p.Pro307Ala		B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	NULL	p.P307A	ENST00000253262.4	37	c.919	CCDS47994.1	9	.	.	.	.	.	.	.	.	.	.	.	9.662	1.144317	0.21205	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	T;T;T	0.25085	1.82;1.82;1.82	1.2	1.2	0.21068	Nuclear Testis  protein, N-terminal (1);	1.130310	0.06590	N	0.751849	T	0.34687	0.0906	M	0.71036	2.16	0.09310	N	1	P	0.49358	0.923	P	0.48368	0.575	T	0.29518	-1.0009	10	0.62326	D	0.03	.	5.8356	0.18605	0.0:0.0:1.0:0.0	.	307	A1L443	FA22F_HUMAN	A	307	ENSP00000335067:P307A;ENSP00000253262:P307A;ENSP00000343865:P307A	ENSP00000253262:P307A	P	-	1	0	FAM22F	96123259	0.749000	0.28305	0.006000	0.13384	0.016000	0.09150	1.792000	0.38754	0.992000	0.38840	0.456000	0.33151	CCT	FAM22F	-	NULL	ENSG00000130950		0.612	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22F	HGNC	protein_coding	OTTHUMT00000053173.2	32	0.00	0	G	NM_017561		97083438	97083438	-1	no_errors	ENST00000253262	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	0.007	C
FAM63A	55793	genome.wustl.edu	37	1	150970156	150970156	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:150970156G>C	ENST00000361936.5	-	10	2227	c.1273C>G	c.(1273-1275)Caa>Gaa	p.Q425E	FAM63A_ENST00000361738.6_Missense_Mutation_p.Q473E|FAM63A_ENST00000312210.5_Missense_Mutation_p.Q283E|FAM63A_ENST00000470877.1_5'Flank|FAM63A_ENST00000493834.2_Missense_Mutation_p.Q330E	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	425	Gln-rich.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGCTGTTGATACTCCTCT	0.647																																						dbGAP											0													36.0	35.0	36.0					1																	150970156		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.1273C>G	1.37:g.150970156G>C	ENSP00000354814:p.Gln425Glu		B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	pfam_DUF544	p.Q473E	ENST00000361936.5	37	c.1417	CCDS976.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.07|13.07	2.127813|2.127813	0.37533|0.37533	.|.	.|.	ENSG00000143409|ENSG00000143409	ENST00000497067|ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	.|T;T;T;T	.|0.42131	.|1.05;1.01;0.98;1.05	4.45|4.45	3.53|3.53	0.40419|0.40419	.|.	.|0.200937	.|0.44285	.|N	.|0.000479	T|T	0.20536|0.20536	0.0494|0.0494	L|L	0.28556|0.28556	0.865|0.865	0.44579|0.44579	D|D	0.997549|0.997549	.|P;P	.|0.52170	.|0.94;0.951	.|P;P	.|0.53062	.|0.717;0.501	T|T	0.09907|0.09907	-1.0653|-1.0653	5|10	.|0.02654	.|T	.|1	-6.9682|-6.9682	12.2811|12.2811	0.54765|0.54765	0.0:0.1722:0.8278:0.0|0.0:0.1722:0.8278:0.0	.|.	.|473;425	.|Q8N5J2-3;Q8N5J2	.|.;FA63A_HUMAN	M|E	63|283;425;473;330	.|ENSP00000310923:Q283E;ENSP00000354814:Q425E;ENSP00000354669:Q473E;ENSP00000437174:Q330E	.|ENSP00000310923:Q283E	I|Q	-|-	3|1	3|0	FAM63A|FAM63A	149236780|149236780	1.000000|1.000000	0.71417|0.71417	0.761000|0.761000	0.31378|0.31378	0.184000|0.184000	0.23303|0.23303	5.776000|5.776000	0.68924|0.68924	1.096000|1.096000	0.41439|0.41439	-0.171000|-0.171000	0.13296|0.13296	ATC|CAA	FAM63A	-	NULL	ENSG00000143409		0.647	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	30	0.00	0	G	NM_018379		150970156	150970156	-1	no_errors	ENST00000361738	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	1.000	C
SPATA31D1	389763	genome.wustl.edu	37	9	84608774	84608774	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:84608774G>C	ENST00000344803.2	+	4	3436	c.3389G>C	c.(3388-3390)aGa>aCa	p.R1130T		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1130					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGGATAAGAGAAAGAGTTCC	0.473																																						dbGAP											0													69.0	69.0	69.0					9																	84608774		1968	4157	6125	-	-	-	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3389G>C	9.37:g.84608774G>C	ENSP00000341988:p.Arg1130Thr			Missense_Mutation	SNP	NULL	p.R1130T	ENST00000344803.2	37	c.3389	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.109220	0.00353	.	.	ENSG00000214929	ENST00000344803	T	0.04862	3.54	2.17	-1.3	0.09259	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	P	0.40282	0.711	B	0.33690	0.168	T	0.44997	-0.9291	9	0.13853	T	0.58	-0.4955	5.378	0.16176	0.5613:0.0:0.4387:0.0	.	1130	Q6ZQQ2	F75D1_HUMAN	T	1130	ENSP00000341988:R1130T	ENSP00000341988:R1130T	R	+	2	0	FAM75D1	83798594	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.403000	0.02497	-0.323000	0.08602	-0.480000	0.04831	AGA	FAM75D1	-	NULL	ENSG00000214929		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	29	0.00	0	G	NM_001001670		84608774	84608774	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	0.000	C
FAM73B	84895	genome.wustl.edu	37	9	131804681	131804681	+	Silent	SNP	G	G	A	rs145905348		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:131804681G>A	ENST00000358369.4	+	3	421	c.195G>A	c.(193-195)ctG>ctA	p.L65L	FAM73B_ENST00000277475.5_Silent_p.L65L|FAM73B_ENST00000474534.1_3'UTR|FAM73B_ENST00000406926.2_Silent_p.L65L	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	65					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CCCACCAGCTGAAGAGGCGAC	0.652																																						dbGAP											0													44.0	35.0	38.0					9																	131804681		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.195G>A	9.37:g.131804681G>A			Q8NBM3|Q8TEJ6|Q969E6	Silent	SNP	pfam_DUF2217	p.L65	ENST00000358369.4	37	c.195	CCDS6917.1	9																																																																																			FAM73B	-	pfam_DUF2217	ENSG00000148343		0.652	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7	40	0.00	0	G	NM_032809		131804681	131804681	+1	no_errors	ENST00000358369	ensembl	human	known	69_37n	silent	15	42.31	11	SNP	1.000	A
RMDN2	151393	genome.wustl.edu	37	2	38202433	38202433	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:38202433G>C	ENST00000406384.1	+	4	900	c.706G>C	c.(706-708)Gaa>Caa	p.E236Q	RMDN2_ENST00000417700.2_Missense_Mutation_p.E91Q|RMDN2_ENST00000354545.2_Missense_Mutation_p.E236Q|RMDN2_ENST00000407257.1_Missense_Mutation_p.E414Q|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Missense_Mutation_p.E414Q	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	236						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAACACACAAGAAAAGAAACA	0.323																																						dbGAP											0													109.0	109.0	109.0					2																	38202433		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.706G>C	2.37:g.38202433G>C	ENSP00000386004:p.Glu236Gln		A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	NULL	p.E414Q	ENST00000406384.1	37	c.1240	CCDS54351.1	2	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013711	0.35511	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	4.95	4.03	0.46877	.	0.061497	0.64402	D	0.000006	T	0.42223	0.1193	L	0.58669	1.825	0.46725	D	0.999173	B;P;P;P	0.39535	0.383;0.54;0.54;0.677	B;B;B;B	0.36959	0.237;0.23;0.23;0.23	T	0.41787	-0.9489	10	0.44086	T	0.13	.	11.3026	0.49316	0.0:0.1831:0.8169:0.0	.	414;91;236;91	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	Q	236;236;414;91;414;91	ENSP00000346549:E236Q;ENSP00000386004:E236Q;ENSP00000385049:E414Q;ENSP00000392977:E91Q;ENSP00000234195:E414Q;ENSP00000416367:E91Q	ENSP00000234195:E414Q	E	+	1	0	FAM82A1	38055937	1.000000	0.71417	0.967000	0.41034	0.702000	0.40608	3.685000	0.54678	2.569000	0.86673	0.467000	0.42956	GAA	FAM82A1	-	NULL	ENSG00000115841		0.323	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM82A1	HGNC	protein_coding	OTTHUMT00000325577.1	93	0.00	0	G	NM_144713		38202433	38202433	+1	no_errors	ENST00000234195	ensembl	human	known	69_37n	missense	80	46.67	70	SNP	0.913	C
RMDN3	55177	genome.wustl.edu	37	15	41037426	41037426	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:41037426C>T	ENST00000260385.6	-	4	1623	c.556G>A	c.(556-558)Gag>Aag	p.E186K	RMDN3_ENST00000338376.3_Missense_Mutation_p.E186K|RMDN3_ENST00000558560.1_5'UTR			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	186					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GAGTCCCGCTCATTGTCAGAC	0.498																																						dbGAP											0													162.0	133.0	143.0					15																	41037426		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.556G>A	15.37:g.41037426C>T	ENSP00000260385:p.Glu186Lys		A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	NULL	p.E186K	ENST00000260385.6	37	c.556	CCDS10063.1	15	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716645	0.89205	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.48201	0.82;0.82	5.93	5.93	0.95920	.	0.533493	0.22413	N	0.060385	T	0.49372	0.1553	L	0.57536	1.79	0.45284	D	0.998286	P	0.42692	0.787	B	0.39379	0.298	T	0.46789	-0.9166	10	0.38643	T	0.18	-14.2004	19.936	0.97142	0.0:1.0:0.0:0.0	.	186	Q96TC7	RMD3_HUMAN	K	186;186;123	ENSP00000260385:E186K;ENSP00000342493:E186K	ENSP00000260385:E186K	E	-	1	0	FAM82A2	38824718	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	6.321000	0.72881	2.814000	0.96858	0.655000	0.94253	GAG	FAM82A2	-	NULL	ENSG00000137824		0.498	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM82A2	HGNC	protein_coding	OTTHUMT00000252357.1	122	0.00	0	C	NM_018145		41037426	41037426	-1	no_errors	ENST00000260385	ensembl	human	known	69_37n	missense	78	40.00	52	SNP	1.000	T
FAM84A	151354	genome.wustl.edu	37	2	14774939	14774939	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:14774939G>C	ENST00000295092.2	+	2	1124	c.836G>C	c.(835-837)cGa>cCa	p.R279P	FAM84A_ENST00000331243.4_Missense_Mutation_p.R279P|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	279										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GGCCGCCTGCGAGTGCTCCAG	0.677																																						dbGAP											0													24.0	26.0	26.0					2																	14774939		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.836G>C	2.37:g.14774939G>C	ENSP00000295092:p.Arg279Pro		A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.R279P	ENST00000295092.2	37	c.836	CCDS1684.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.987380|3.987380	0.74589|0.74589	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000359969|ENST00000295092;ENST00000331243	.|T;T	.|0.03272	.|3.99;3.99	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.602473|.	0.18169|.	N|.	0.149531|.	T|T	0.05640|0.05640	0.0148|0.0148	L|L	0.40543|0.40543	1.245|1.245	0.44899|0.44899	D|D	0.997919|0.997919	.|P	.|0.48911	.|0.917	.|B	.|0.43623	.|0.425	T|T	0.51624|0.51624	-0.8682|-0.8682	7|9	0.26408|0.34782	T|T	0.33|0.22	-1.0978|-1.0978	16.9067|16.9067	0.86130|0.86130	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|279	.|Q96KN4	.|FA84A_HUMAN	Q|P	224|279	.|ENSP00000295092:R279P;ENSP00000330681:R279P	ENSP00000353054:E224Q|ENSP00000295092:R279P	E|R	+|+	1|2	0|0	FAM84A|FAM84A	14692390|14692390	0.998000|0.998000	0.40836|0.40836	0.946000|0.946000	0.38457|0.38457	0.979000|0.979000	0.70002|0.70002	3.397000|3.397000	0.52572|0.52572	2.295000|2.295000	0.77249|0.77249	0.455000|0.455000	0.32223|0.32223	GAG|CGA	FAM84A	-	NULL	ENSG00000162981		0.677	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84A	HGNC	protein_coding	OTTHUMT00000239308.2	14	0.00	0	G	NM_145175		14774939	14774939	+1	no_errors	ENST00000295092	ensembl	human	known	69_37n	missense	6	50.00	6	SNP	0.988	C
FBN1	2200	genome.wustl.edu	37	15	48818444	48818444	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:48818444C>T	ENST00000316623.5	-	9	1326	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	291	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGCTGCATTCATCAATATCT	0.383																																						dbGAP											0													75.0	73.0	74.0					15																	48818444		2197	4296	6493	-	-	-	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.871G>A	15.37:g.48818444C>T	ENSP00000325527:p.Glu291Lys		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.E291K	ENST00000316623.5	37	c.871	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.399687	0.96030	.	.	ENSG00000166147	ENST00000316623	D	0.98849	-5.18	5.63	5.63	0.86233	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	H	0.94925	3.6	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.98645	1.0677	10	0.87932	D	0	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	291	P35555	FBN1_HUMAN	K	291	ENSP00000325527:E291K	ENSP00000325527:E291K	E	-	1	0	FBN1	46605736	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.776000	0.85560	2.814000	0.96858	0.655000	0.94253	GAA	FBN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000166147		0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	87	0.00	0	C			48818444	48818444	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	missense	34	37.04	20	SNP	1.000	T
FBXL18	80028	genome.wustl.edu	37	7	5540850	5540850	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:5540850G>A	ENST00000382368.3	-	3	1173	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	FBXL18_ENST00000453700.3_Silent_p.L350L	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	350									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CGCAGCCGCTGAGGTTCAAGC	0.632																																						dbGAP											0													20.0	27.0	25.0					7																	5540850		2073	4219	6292	-	-	-	SO:0001819	synonymous_variant	0			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1050C>T	7.37:g.5540850G>A			Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	NULL	p.S234L	ENST00000382368.3	37	c.701	CCDS43546.1	7	.	.	.	.	.	.	.	.	.	.	G	6.450	0.451189	0.12223	.	.	ENSG00000155034	ENST00000458142	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	T	0.64778	0.2629	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62599	-0.6820	4	.	.	.	.	12.9633	0.58470	0.0:0.0:0.8383:0.1617	.	.	.	.	L	234	.	.	S	-	2	0	FBXL18	5507376	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.433000	0.34947	2.553000	0.86117	0.650000	0.86243	TCA	FBXL18	-	NULL	ENSG00000155034		0.632	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL18	HGNC	protein_coding	OTTHUMT00000324093.1	32	0.00	0	G	NM_024963		5540850	5540850	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000458142	ensembl	human	putative	69_37n	missense	9	50.00	9	SNP	1.000	A
FBXO18	84893	genome.wustl.edu	37	10	5969465	5969465	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:5969465C>G	ENST00000362091.4	+	19	2905	c.2790C>G	c.(2788-2790)atC>atG	p.I930M	FBXO18_ENST00000397269.3_Missense_Mutation_p.I434M|FBXO18_ENST00000379999.5_Missense_Mutation_p.I981M	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	930					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGCGTCTCATCATGACCAAAT	0.388																																						dbGAP											0													142.0	126.0	131.0					10																	5969465		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2790C>G	10.37:g.5969465C>G	ENSP00000355415:p.Ile930Met		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.I981M	ENST00000362091.4	37	c.2943	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439015	0.63067	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	D;D;D	0.82984	-1.67;-1.67;-1.67	5.46	2.49	0.30216	.	0.164672	0.49916	D	0.000124	D	0.85535	0.5719	L	0.58428	1.81	0.33468	D	0.585828	D;D;D	0.76494	0.999;0.995;0.995	D;D;D	0.67900	0.954;0.917;0.919	D	0.85159	0.0991	10	0.56958	D	0.05	-17.9212	5.0264	0.14387	0.3516:0.4808:0.0:0.1676	.	981;930;856	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	M	434;930;981	ENSP00000380439:I434M;ENSP00000355415:I930M;ENSP00000369335:I981M	ENSP00000355415:I930M	I	+	3	3	FBXO18	6009471	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	0.562000	0.23531	0.220000	0.20860	0.558000	0.71614	ATC	FBXO18	-	NULL	ENSG00000134452		0.388	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	115	0.00	0	C	NM_032807		5969465	5969465	+1	no_errors	ENST00000379999	ensembl	human	known	69_37n	missense	116	37.30	69	SNP	1.000	G
FBXO3	26273	genome.wustl.edu	37	11	33795989	33795989	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:33795989C>T	ENST00000265651.3	-	1	73	c.55G>A	c.(55-57)Gat>Aat	p.D19N	RP11-646J21.5_ENST00000533046.1_RNA|FBXO3_ENST00000448981.2_Missense_Mutation_p.D19N|FBXO3_ENST00000534136.1_Missense_Mutation_p.D19N|RP11-646J21.6_ENST00000528779.1_RNA|FBXO3_ENST00000530401.1_Missense_Mutation_p.D19N|FBXO3_ENST00000533103.1_5'Flank|FBXO3_ENST00000526785.1_5'Flank|RP11-646J21.5_ENST00000530352.1_RNA	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	19	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				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)		AGCAGGGGATCGGTGGGCAGC	0.657																																						dbGAP											0													62.0	53.0	56.0					11																	33795989		2202	4298	6500	-	-	-	SO:0001583	missense	0			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.55G>A	11.37:g.33795989C>T	ENSP00000265651:p.Asp19Asn		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	pfam_ApaG_domain,pfam_F-box_dom_cyclin-like,superfamily_ApaG_domain,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cell_wall_assmbl_KNR4-like,pfscan_ApaG_domain,pfscan_F-box_dom_cyclin-like	p.D19N	ENST00000265651.3	37	c.55	CCDS7887.1	11	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484376	0.84854	.	.	ENSG00000110429	ENST00000265651;ENST00000321458;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T	0.58060	0.91;0.36;0.91;0.91	4.31	3.37	0.38596	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.054935	0.64402	D	0.000001	T	0.60248	0.2254	L	0.45470	1.425	0.43852	D	0.996446	D;D;D	0.89917	0.994;0.999;1.0	P;P;D	0.68765	0.721;0.905;0.96	T	0.57751	-0.7757	10	0.39692	T	0.17	-21.1329	9.9116	0.41408	0.0:0.8982:0.0:0.1018	.	19;19;19	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	N	19;16;19;19;19	ENSP00000265651:D19N;ENSP00000433781:D19N;ENSP00000431745:D19N;ENSP00000408836:D19N	ENSP00000265651:D19N	D	-	1	0	FBXO3	33752565	0.999000	0.42202	1.000000	0.80357	0.965000	0.64279	1.577000	0.36515	2.222000	0.72286	0.462000	0.41574	GAT	FBXO3	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	ENSG00000110429		0.657	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO3	HGNC	protein_coding	OTTHUMT00000388665.1	30	0.00	0	C	NM_012175		33795989	33795989	-1	no_errors	ENST00000265651	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	1.000	T
FER1L6	654463	genome.wustl.edu	37	8	125072857	125072857	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:125072857C>T	ENST00000522917.1	+	24	3260	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L1018L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1018						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCAGGCTCTCATTGAGTGCG	0.547																																						dbGAP											0													147.0	127.0	134.0					8																	125072857		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3054C>T	8.37:g.125072857C>T				Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L1018	ENST00000522917.1	37	c.3054	CCDS43767.1	8																																																																																			FER1L6	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000214814		0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	124	0.00	0	C	NM_001039112		125072857	125072857	+1	no_errors	ENST00000399018	ensembl	human	known	69_37n	silent	92	32.85	45	SNP	1.000	T
FGD4	121512	genome.wustl.edu	37	12	32793347	32793347	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:32793347G>A	ENST00000427716.2	+	17	2605	c.2181G>A	c.(2179-2181)ctG>ctA	p.L727L	FGD4_ENST00000525053.1_Silent_p.L839L|FGD4_ENST00000531134.1_Silent_p.L812L|FGD4_ENST00000534526.2_Silent_p.L864L|FGD4_ENST00000546442.1_Silent_p.L634L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	727	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GTGAGGAACTGAAGCAGAAGT	0.507																																						dbGAP											0													125.0	104.0	111.0					12																	32793347		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2181G>A	12.37:g.32793347G>A			Q6ULS2|Q8TCP6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.L727	ENST00000427716.2	37	c.2181	CCDS8727.1	12																																																																																			FGD4	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000139132		0.507	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	HGNC	protein_coding	OTTHUMT00000268017.1	87	0.00	0	G	NM_139241		32793347	32793347	+1	no_errors	ENST00000427716	ensembl	human	known	69_37n	silent	25	50.00	25	SNP	1.000	A
FGF10	2255	genome.wustl.edu	37	5	44305146	44305146	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:44305146C>T	ENST00000264664.4	-	3	692	c.578G>A	c.(577-579)cGa>cAa	p.R193Q		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	193					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					GTTTTTCCTTCGTGTTTTCTG	0.443																																						dbGAP											0													294.0	253.0	267.0					5																	44305146		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.578G>A	5.37:g.44305146C>T	ENSP00000264664:p.Arg193Gln		C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.R193Q	ENST00000264664.4	37	c.578	CCDS3950.1	5	.	.	.	.	.	.	.	.	.	.	C	19.75	3.884863	0.72410	.	.	ENSG00000070193	ENST00000264664	D	0.82526	-1.62	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	M	0.69823	2.125	0.58432	D	0.999999	P	0.52842	0.956	B	0.36608	0.229	D	0.84538	0.0637	10	0.52906	T	0.07	.	20.2013	0.98260	0.0:1.0:0.0:0.0	.	193	O15520	FGF10_HUMAN	Q	193	ENSP00000264664:R193Q	ENSP00000264664:R193Q	R	-	2	0	FGF10	44340903	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.763000	0.94921	0.655000	0.94253	CGA	FGF10	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF	ENSG00000070193		0.443	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF10	HGNC	protein_coding	OTTHUMT00000253845.2	199	0.00	0	C	NM_004465		44305146	44305146	-1	no_errors	ENST00000264664	ensembl	human	known	69_37n	missense	168	33.86	86	SNP	1.000	T
FGFR1	2260	genome.wustl.edu	37	8	38272342	38272342	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:38272342G>A	ENST00000447712.2	-	14	2873	c.1932C>T	c.(1930-1932)ctC>ctT	p.L644L	FGFR1_ENST00000397091.5_Silent_p.L642L|FGFR1_ENST00000397103.1_Silent_p.L555L|FGFR1_ENST00000397113.2_Silent_p.L642L|FGFR1_ENST00000532791.1_Silent_p.L642L|FGFR1_ENST00000425967.3_Silent_p.L675L|FGFR1_ENST00000397108.4_Silent_p.L642L|FGFR1_ENST00000335922.5_Silent_p.L634L|FGFR1_ENST00000356207.5_Silent_p.L555L|FGFR1_ENST00000341462.5_Silent_p.L644L|FGFR1_ENST00000326324.6_Silent_p.L553L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	644	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGTCCCGTGCGAGGCCAAAGT	0.532		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	dbGAP		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													121.0	126.0	124.0					8																	38272342		2142	4277	6419	-	-	-	SO:0001819	synonymous_variant	0			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1932C>T	8.37:g.38272342G>A			A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L675	ENST00000447712.2	37	c.2025	CCDS6107.2	8	.	.	.	.	.	.	.	.	.	.	G	6.655	0.489413	0.12641	.	.	ENSG00000077782	ENST00000310729	.	.	.	5.9	-11.8	0.00035	.	.	.	.	.	T	0.50820	0.1638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73291	-0.4029	5	0.87932	D	0	.	4.1268	0.10131	0.2421:0.2798:0.3552:0.1228	.	.	.	.	C	653	.	ENSP00000311337:R653C	R	-	1	0	FGFR1	38391499	0.000000	0.05858	0.003000	0.11579	0.838000	0.47535	-3.384000	0.00489	-5.092000	0.00022	-1.058000	0.02302	CGC	FGFR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom	ENSG00000077782		0.532	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		98	0.00	0	G			38272342	38272342	-1	no_errors	ENST00000425967	ensembl	human	known	69_37n	silent	56	34.12	29	SNP	0.004	A
FGFR2	2263	genome.wustl.edu	37	10	123274822	123274822	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:123274822C>G	ENST00000358487.5	-	9	1368	c.1096G>C	c.(1096-1098)Gaa>Caa	p.E366Q	FGFR2_ENST00000357555.5_Missense_Mutation_p.E277Q|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000360144.3_Missense_Mutation_p.E278Q|FGFR2_ENST00000490349.1_5'Flank|FGFR2_ENST00000369056.1_Missense_Mutation_p.E367Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.E252Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.E366Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.E138Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.E251Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.E254Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.E366Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.E367Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	366					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ATCTCCTTTTCTCTTCCAGGC	0.493		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													dbGAP		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0													87.0	91.0	90.0					10																	123274822		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1096G>C	10.37:g.123274822C>G	ENSP00000351276:p.Glu366Gln		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E367Q	ENST00000358487.5	37	c.1099	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449544	0.26074	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	T;T;T;T;T;T;T;T;T;T;T;T	0.79554	-1.2;-1.28;-1.2;-1.18;-1.19;-1.21;-1.22;-1.21;-1.21;-1.21;-1.21;-1.19	5.83	4.94	0.65067	.	0.205283	0.51477	D	0.000092	T	0.66218	0.2767	N	0.19112	0.55	0.42602	D	0.993281	B;B;B;B;B;B;B	0.33345	0.007;0.409;0.016;0.062;0.001;0.007;0.005	B;B;B;B;B;B;B	0.34536	0.007;0.185;0.015;0.062;0.004;0.013;0.015	T	0.62450	-0.6852	10	0.19147	T	0.46	.	10.4369	0.44441	0.0:0.7965:0.1336:0.0698	.	385;367;277;251;366;278;367	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17	.;.;.;.;FGFR2_HUMAN;.;.	Q	277;369;254;366;251;252;366;367;366;278;367;367;277	ENSP00000350166:E277Q;ENSP00000358057:E254Q;ENSP00000351276:E366Q;ENSP00000348559:E251Q;ENSP00000358055:E252Q;ENSP00000263451:E366Q;ENSP00000410294:E367Q;ENSP00000309878:E366Q;ENSP00000353262:E278Q;ENSP00000358052:E367Q;ENSP00000358054:E367Q;ENSP00000337665:E277Q	ENSP00000337665:E277Q	E	-	1	0	FGFR2	123264812	1.000000	0.71417	0.997000	0.53966	0.456000	0.32438	1.613000	0.36900	1.470000	0.48102	0.655000	0.94253	GAA	FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt	ENSG00000066468		0.493	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	49	0.00	0	C	NM_022976, NM_000141		123274822	123274822	-1	no_errors	ENST00000457416	ensembl	human	known	69_37n	missense	52	27.40	20	SNP	1.000	G
FHIT	2272	genome.wustl.edu	37	3	59999791	59999791	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:59999791C>G	ENST00000468189.1	-	6	561	c.191G>C	c.(190-192)aGa>aCa	p.R64T	FHIT_ENST00000492590.1_Missense_Mutation_p.R64T|FHIT_ENST00000341848.4_Missense_Mutation_p.R64T|FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000476844.1_Missense_Mutation_p.R64T			P49789	FHIT_HUMAN	fragile histidine triad	64	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		TGTCCCGACTCTCTGGGTCGT	0.512			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																													dbGAP		Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	0													99.0	98.0	98.0					3																	59999791		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.191G>C	3.37:g.59999791C>G	ENSP00000417480:p.Arg64Thr		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT	p.R64T	ENST00000468189.1	37	c.191	CCDS2894.1	3	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513834	0.27123	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	5.96	4.17	0.49024	Histidine triad motif (1);Histidine triad-like motif (1);	0.144833	0.64402	D	0.000015	D	0.87553	0.6206	L	0.54908	1.71	0.40561	D	0.981219	B	0.20671	0.047	B	0.22753	0.041	T	0.81994	-0.0677	9	.	.	.	-22.5353	6.5165	0.22250	0.147:0.7047:0.0:0.1483	.	64	P49789	FHIT_HUMAN	T	64	ENSP00000418582:R64T;ENSP00000417557:R64T;ENSP00000417480:R64T;ENSP00000342087:R64T;ENSP00000418596:R64T	.	R	-	2	0	FHIT	59974831	0.997000	0.39634	0.999000	0.59377	0.055000	0.15305	1.177000	0.31969	1.527000	0.49086	0.655000	0.94253	AGA	FHIT	-	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT	ENSG00000189283		0.512	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FHIT	HGNC	protein_coding	OTTHUMT00000351648.1	70	0.00	0	C	NM_002012		59999791	59999791	-1	no_errors	ENST00000341848	ensembl	human	known	69_37n	missense	38	37.70	23	SNP	1.000	G
FHOD1	29109	genome.wustl.edu	37	16	67268019	67268019	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:67268019G>C	ENST00000258201.4	-	13	1834	c.1587C>G	c.(1585-1587)atC>atG	p.I529M		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	529	FH1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGAGCTCCCAGATGGGCTCAG	0.612																																						dbGAP											0													83.0	91.0	88.0					16																	67268019		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1587C>G	16.37:g.67268019G>C	ENSP00000258201:p.Ile529Met		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.I529M	ENST00000258201.4	37	c.1587	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	G	5.041	0.193290	0.09599	.	.	ENSG00000135723	ENST00000258201	T	0.38240	1.15	5.2	-0.442	0.12253	.	1.417560	0.04124	N	0.316711	T	0.21347	0.0514	N	0.19112	0.55	0.09310	N	1	B;B	0.24483	0.104;0.001	B;B	0.23716	0.048;0.004	T	0.13683	-1.0500	10	0.34782	T	0.22	.	1.2821	0.02043	0.3488:0.1381:0.3714:0.1416	.	108;529	B4DVN5;Q9Y613	.;FHOD1_HUMAN	M	529	ENSP00000258201:I529M	ENSP00000258201:I529M	I	-	3	3	FHOD1	65825520	0.000000	0.05858	0.010000	0.14722	0.132000	0.20833	-0.122000	0.10627	-0.311000	0.08754	-0.367000	0.07326	ATC	FHOD1	-	NULL	ENSG00000135723		0.612	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	25	0.00	0	G			67268019	67268019	-1	no_errors	ENST00000258201	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	0.008	C
FKBP15	23307	genome.wustl.edu	37	9	115983586	115983586	+	5'UTR	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:115983586C>T	ENST00000238256.3	-	0	55				SLC31A1_ENST00000374212.4_5'Flank|SLC31A1_ENST00000374210.6_5'Flank	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa						endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CAGGGCCTGTCACCGCCGACG	0.632																																						dbGAP											0													19.0	22.0	21.0					9																	115983586		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.-63G>A	9.37:g.115983586C>T			Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.D5N	ENST00000238256.3	37	c.13	CCDS48007.1	9	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020506	0.75275	.	.	ENSG00000119321	ENST00000446284;ENST00000414250	T;T	0.34667	1.86;1.35	5.25	1.15	0.20763	.	.	.	.	.	T	0.33585	0.0868	.	.	.	0.20307	N	0.999915	.	.	.	.	.	.	T	0.32402	-0.9908	6	0.87932	D	0	0.6818	4.5128	0.11919	0.2994:0.5268:0.0:0.1738	.	.	.	.	N	5	ENSP00000416158:D5N;ENSP00000415733:D5N	ENSP00000415733:D5N	D	-	1	0	FKBP15	115023407	0.000000	0.05858	0.001000	0.08648	0.598000	0.36846	0.221000	0.17680	0.305000	0.22832	0.655000	0.94253	GAC	FKBP15	-	NULL	ENSG00000119321		0.632	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		25	0.00	0	C	NM_015258		115983586	115983586	-1	no_start_codon	ENST00000446284	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.000	T
FKBP8	23770	genome.wustl.edu	37	19	18652654	18652654	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:18652654C>G	ENST00000596558.2	-	2	236	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	FKBP8_ENST00000222308.4_Missense_Mutation_p.E43Q|FKBP8_ENST00000608443.1_Missense_Mutation_p.E43Q|FKBP8_ENST00000597960.3_Missense_Mutation_p.E43Q|FKBP8_ENST00000610101.1_Missense_Mutation_p.E43Q|FKBP8_ENST00000453489.2_Missense_Mutation_p.E72Q			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	43	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						tcttcctcctcttcctcctcc	0.667																																						dbGAP											0													37.0	31.0	33.0					19																	18652654		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.127G>C	19.37:g.18652654C>G	ENSP00000472302:p.Glu43Gln		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.E72Q	ENST00000596558.2	37	c.214		19	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179797	0.38511	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.37411	1.2;1.4;1.43	2.91	2.91	0.33838	.	.	.	.	.	T	0.19167	0.0460	N	0.08118	0	0.21416	N	0.999693	B;B;B	0.21688	0.059;0.017;0.029	B;B;B	0.19391	0.019;0.011;0.025	T	0.12218	-1.0556	9	0.15499	T	0.54	.	12.7795	0.57469	0.0:1.0:0.0:0.0	.	72;43;43	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	Q	43;43;72	ENSP00000222308:E43Q;ENSP00000441267:E43Q;ENSP00000388891:E72Q	ENSP00000222308:E43Q	E	-	1	0	FKBP8	18513654	0.689000	0.27690	0.969000	0.41365	0.918000	0.54935	3.036000	0.49767	1.643000	0.50594	0.491000	0.48974	GAG	FKBP8	-	NULL	ENSG00000105701		0.667	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	HGNC	protein_coding	OTTHUMT00000466374.3	23	0.00	0	C	NM_012181		18652654	18652654	-1	no_errors	ENST00000453489	ensembl	human	known	69_37n	missense	14	50.00	15	SNP	1.000	G
FKTN	2218	genome.wustl.edu	37	9	108397331	108397331	+	Splice_Site	SNP	G	G	C	rs557699482		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:108397331G>C	ENST00000223528.2	+	10	1296		c.e10-1		FKTN_ENST00000357998.5_Splice_Site|FKTN_ENST00000448551.2_Splice_Site|FKTN_ENST00000540160.1_Splice_Site|FKTN_ENST00000602661.1_Splice_Site	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin						muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TTTTGCTGCAGATACCTGTTT	0.458													G|||	0	0.0	0.0	0.0	5008	,	,		21595	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													150.0	135.0	140.0					9																	108397331		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1173-1G>C	9.37:g.108397331G>C			B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Splice_Site	SNP	-	e9-1	ENST00000223528.2	37	c.1173-1	CCDS6766.1	9	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616121	0.46631	.	.	ENSG00000106692	ENST00000223528;ENST00000540160;ENST00000357998;ENST00000457847	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FKTN	107437152	1.000000	0.71417	0.927000	0.36925	0.219000	0.24729	9.411000	0.97342	2.941000	0.99782	0.655000	0.94253	.	FKTN	-	-	ENSG00000106692		0.458	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKTN	HGNC	protein_coding	OTTHUMT00000053505.1	129	0.00	0	G	NM_006731	Intron	108397331	108397331	+1	no_errors	ENST00000223528	ensembl	human	known	69_37n	splice_site	67	37.38	40	SNP	1.000	C
FLAD1	80308	genome.wustl.edu	37	1	154956531	154956531	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:154956531G>C	ENST00000292180.3	+	1	683	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	FLAD1_ENST00000315144.10_Missense_Mutation_p.E24Q|FLAD1_ENST00000368432.1_Missense_Mutation_p.E24Q|FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000368433.1_Missense_Mutation_p.E121Q|FLAD1_ENST00000487371.1_3'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	121	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|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)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.E121K(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTTGGAGATGAGATCCTTAA	0.582																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											23.0	22.0	22.0					1																	154956531		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.361G>C	1.37:g.154956531G>C	ENSP00000292180:p.Glu121Gln		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd	p.E121Q	ENST00000292180.3	37	c.361	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.467762	0.96257	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000292180	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.63	5.63	0.86233	Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.94453	0.8215	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96084	0.9056	10	0.87932	D	0	-19.3695	17.4665	0.87634	0.0:0.0:1.0:0.0	.	121	Q8NFF5	FAD1_HUMAN	Q	121;24;24;121	ENSP00000357418:E121Q;ENSP00000317296:E24Q;ENSP00000357417:E24Q;ENSP00000292180:E121Q	ENSP00000292180:E121Q	E	+	1	0	FLAD1	153223155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.135000	0.89608	2.655000	0.90218	0.555000	0.69702	GAG	FLAD1	-	pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd	ENSG00000160688		0.582	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	32	0.00	0	G	NM_025207		154956531	154956531	+1	no_errors	ENST00000292180	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	C
FLRT2	23768	genome.wustl.edu	37	14	86088200	86088200	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:86088200C>G	ENST00000330753.4	+	2	1109	c.342C>G	c.(340-342)ctC>ctG	p.L114L	FLRT2_ENST00000554746.1_Silent_p.L114L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	114					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCAGAGTTCTCCATTTGCAGG	0.493																																						dbGAP											0													99.0	98.0	99.0					14																	86088200		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.342C>G	14.37:g.86088200C>G			A0AV84|B7ZLP3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.L114	ENST00000330753.4	37	c.342	CCDS9877.1	14																																																																																			FLRT2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000185070		0.493	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	65	0.00	0	C			86088200	86088200	+1	no_errors	ENST00000330753	ensembl	human	known	69_37n	silent	30	34.78	16	SNP	1.000	G
FLT3LG	2323	genome.wustl.edu	37	19	49979435	49979435	+	Missense_Mutation	SNP	G	G	C	rs367551792		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:49979435G>C	ENST00000594009.1	+	3	257	c.178G>C	c.(178-180)Gtg>Ctg	p.V60L	CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000344019.3_Missense_Mutation_p.V60L|FLT3LG_ENST00000600429.1_Missense_Mutation_p.V60L|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_Missense_Mutation_p.V60L|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000596435.1_Missense_Mutation_p.V60L	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	60					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCCAGTCACCGTGGCCTCCAA	0.567											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													165.0	165.0	165.0					19																	49979435		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.178G>C	19.37:g.49979435G>C	ENSP00000469613:p.Val60Leu	966	A0AVC2|B9EGH2|Q05C96	Missense_Mutation	SNP	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	p.V60L	ENST00000594009.1	37	c.178	CCDS12767.1	19	.	.	.	.	.	.	.	.	.	.	G	8.591	0.884629	0.17467	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.04	2.95	0.34219	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.227351	0.35436	U	0.003217	T	0.33235	0.0856	L	0.34521	1.04	0.09310	N	1	B	0.28783	0.222	B	0.34093	0.175	T	0.32693	-0.9897	9	0.72032	D	0.01	-12.4909	9.7282	0.40344	0.0:0.2126:0.7873:0.0	.	60	P49771	FLT3L_HUMAN	L	60	.	ENSP00000204637:V60L	V	+	1	0	FLT3LG	54671247	0.833000	0.29383	0.201000	0.23476	0.130000	0.20726	1.303000	0.33470	0.761000	0.33130	0.542000	0.68232	GTG	FLT3LG	-	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	ENSG00000090554		0.567	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FLT3LG	HGNC	protein_coding	OTTHUMT00000465305.1	47	0.00	0	G			49979435	49979435	+1	no_errors	ENST00000204637	ensembl	human	known	69_37n	missense	35	41.67	25	SNP	0.093	C
FLT4	2324	genome.wustl.edu	37	5	180049834	180049834	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:180049834C>T	ENST00000261937.6	-	12	1632	c.1554G>A	c.(1552-1554)gtG>gtA	p.V518V	FLT4_ENST00000393347.3_Silent_p.V518V|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.V518V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	518	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGCTTGCTCACAGTCTGGG	0.562																																					Colon(97;1075 1466 27033 27547 35871)	dbGAP											0													136.0	108.0	118.0					5																	180049834		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1554G>A	5.37:g.180049834C>T			A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.V518	ENST00000261937.6	37	c.1554	CCDS4457.1	5																																																																																			FLT4	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000037280		0.562	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	18	0.00	0	C			180049834	180049834	-1	no_errors	ENST00000261937	ensembl	human	known	69_37n	silent	37	38.33	23	SNP	1.000	T
FMR1	2332	genome.wustl.edu	37	X	147010189	147010189	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:147010189G>A	ENST00000370475.4	+	5	411	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	FMR1_ENST00000439526.2_Missense_Mutation_p.E95K|FMR1_ENST00000370470.1_Missense_Mutation_p.E95K|FMR1_ENST00000370471.3_Missense_Mutation_p.E95K|FMR1_ENST00000370477.1_Missense_Mutation_p.E95K|FMR1_ENST00000334557.6_Missense_Mutation_p.E95K|FMR1_ENST00000218200.8_Missense_Mutation_p.E95K|FMR1_ENST00000440235.2_5'Flank	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	95	Agenet-like 2.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TTATGTGATAGAATATGCAGC	0.284									Fragile X syndrome																													dbGAP											0													70.0	67.0	68.0					X																	147010189		2203	4297	6500	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.283G>A	X.37:g.147010189G>A	ENSP00000359506:p.Glu95Lys		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1	p.E95K	ENST00000370475.4	37	c.283	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099466	0.76983	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.57107	1.16;0.42;1.19;1.18;1.5;1.2;1.21	5.3	5.3	0.74995	Agenet (1);	0.043821	0.85682	N	0.000000	T	0.61825	0.2378	M	0.82056	2.57	0.80722	D	1	B;B;B;B	0.17268	0.021;0.004;0.005;0.0	B;B;B;B	0.32149	0.141;0.039;0.029;0.004	T	0.61773	-0.6994	10	0.45353	T	0.12	-18.1851	17.1111	0.86675	0.0:0.0:1.0:0.0	.	95;95;95;95	Q8IXW7;Q06787;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.	K	95	ENSP00000218200:E95K;ENSP00000359502:E95K;ENSP00000359508:E95K;ENSP00000359506:E95K;ENSP00000355115:E95K;ENSP00000395923:E95K;ENSP00000359501:E95K	ENSP00000218200:E95K	E	+	1	0	FMR1	146817881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.679000	0.98649	2.337000	0.79520	0.590000	0.80494	GAA	FMR1	-	pfam_Agenet	ENSG00000102081		0.284	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	48	0.00	0	G	NM_002024		147010189	147010189	+1	no_errors	ENST00000370475	ensembl	human	known	69_37n	missense	31	39.22	20	SNP	1.000	A
FNDC7	163479	genome.wustl.edu	37	1	109284421	109284421	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:109284421G>C	ENST00000370017.3	+	12	2474	c.2197G>C	c.(2197-2199)Gaa>Caa	p.E733Q	FNDC7_ENST00000271311.2_Missense_Mutation_p.E734Q	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	733						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GAGAAATGAAGAATGACAAAG	0.338																																						dbGAP											0													86.0	81.0	83.0					1																	109284421		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2197G>C	1.37:g.109284421G>C	ENSP00000359034:p.Glu733Gln		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E734Q	ENST00000370017.3	37	c.2200	CCDS44185.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.946|9.946	1.218813|1.218813	0.22373|0.22373	.|.	.|.	ENSG00000143107|ENSG00000143107	ENST00000370017;ENST00000271311|ENST00000445274	T;T|.	0.25912|.	2.04;1.77|.	4.26|4.26	3.32|3.32	0.38043|0.38043	.|.	0.709834|.	0.14173|.	N|.	0.336577|.	T|T	0.14098|0.14098	0.0341|0.0341	N|N	0.22421|0.22421	0.69|0.69	0.27514|0.27514	N|N	0.951597|0.951597	B;B|.	0.23650|.	0.037;0.089|.	B;B|.	0.27076|.	0.048;0.076|.	T|T	0.15321|0.15321	-1.0441|-1.0441	10|5	0.62326|.	D|.	0.03|.	.|.	8.1234|8.1234	0.30984|0.30984	0.0845:0.0:0.7573:0.1582|0.0845:0.0:0.7573:0.1582	.|.	734;733|.	Q5VTL7;E9PAZ5|.	FNDC7_HUMAN;.|.	Q|T	733;734|498	ENSP00000359034:E733Q;ENSP00000271311:E734Q|.	ENSP00000271311:E734Q|.	E|R	+|+	1|2	0|0	FNDC7|FNDC7	109085944|109085944	1.000000|1.000000	0.71417|0.71417	0.464000|0.464000	0.27143|0.27143	0.372000|0.372000	0.29890|0.29890	2.008000|2.008000	0.40893|0.40893	1.347000|1.347000	0.45714|0.45714	0.655000|0.655000	0.94253|0.94253	GAA|AGA	FNDC7	-	NULL	ENSG00000143107		0.338	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	HGNC	protein_coding	OTTHUMT00000030589.4	51	0.00	0	G	NM_173532		109284421	109284421	+1	no_errors	ENST00000271311	ensembl	human	known	69_37n	missense	46	41.77	33	SNP	0.919	C
FOCAD	54914	genome.wustl.edu	37	9	20990281	20990281	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:20990281C>T	ENST00000380249.1	+	44	5528	c.5164C>T	c.(5164-5166)Cac>Tac	p.H1722Y	FOCAD_ENST00000338382.6_Missense_Mutation_p.H1722Y|FOCAD_ENST00000605086.1_Missense_Mutation_p.H1158Y	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1722						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GAGTCCAATGCACAGGGTCAC	0.587																																						dbGAP											0													53.0	50.0	51.0					9																	20990281		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.5164C>T	9.37:g.20990281C>T	ENSP00000369599:p.His1722Tyr		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.H1722Y	ENST00000380249.1	37	c.5164	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468781	0.43839	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.23552	1.9;1.9	6.17	4.18	0.49190	.	0.345456	0.32918	N	0.005485	T	0.20129	0.0484	L	0.34521	1.04	0.25506	N	0.98751	P	0.42078	0.77	B	0.41271	0.352	T	0.08680	-1.0710	10	0.46703	T	0.11	-26.8282	9.4029	0.38444	0.1678:0.4235:0.4087:0.0	.	1722	Q5VW36	K1797_HUMAN	Y	1722	ENSP00000369599:H1722Y;ENSP00000344307:H1722Y	ENSP00000344307:H1722Y	H	+	1	0	KIAA1797	20980281	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	2.135000	0.42112	1.604000	0.50143	0.655000	0.94253	CAC	FOCAD	-	pfam_DUF3028	ENSG00000188352		0.587	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	23	0.00	0	C	NM_017794		20990281	20990281	+1	no_errors	ENST00000338382	ensembl	human	known	69_37n	missense	138	15.15	25	SNP	0.929	T
FRAS1	80144	genome.wustl.edu	37	4	79359817	79359817	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:79359817G>C	ENST00000325942.6	+	39	5751	c.5311G>C	c.(5311-5313)Gag>Cag	p.E1771Q	FRAS1_ENST00000264895.6_Missense_Mutation_p.E1771Q	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1771					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						tgaggtggaagagctctcaga	0.368																																						dbGAP											0													59.0	54.0	56.0					4																	79359817		1836	4079	5915	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5311G>C	4.37:g.79359817G>C	ENSP00000326330:p.Glu1771Gln		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.E1771Q	ENST00000325942.6	37	c.5311	CCDS54772.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.45|16.45	3.127677|3.127677	0.56721|0.56721	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316|ENST00000510944	T;T|.	0.17370|.	2.28;2.68|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.107347|.	0.64402|.	D|.	0.000008|.	T|T	0.60287|0.60287	0.2257|0.2257	L|L	0.35593|0.35593	1.075|1.075	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.66196|.	0.919;0.942|.	T|T	0.53194|0.53194	-0.8473|-0.8473	10|5	0.23302|.	T|.	0.38|.	.|.	18.4085|18.4085	0.90542|0.90542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1771;1771|.	E9PHH6;A2RRR8|.	.;.|.	Q|T	1771;1771;191|220	ENSP00000326330:E1771Q;ENSP00000264895:E1771Q|.	ENSP00000264895:E1771Q|.	E|R	+|+	1|2	0|0	FRAS1|FRAS1	79578841|79578841	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.239000|0.239000	0.25481|0.25481	7.249000|7.249000	0.78278|0.78278	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAG|AGA	FRAS1	-	NULL	ENSG00000138759		0.368	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	45	0.00	0	G			79359817	79359817	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	53	43.75	42	SNP	1.000	C
FRMD3	257019	genome.wustl.edu	37	9	85924483	85924483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:85924483C>T	ENST00000304195.3	-	10	1100	c.894G>A	c.(892-894)tgG>tgA	p.W298*	FRMD3_ENST00000376434.1_Nonsense_Mutation_p.W104*|FRMD3_ENST00000376438.1_Nonsense_Mutation_p.W298*	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	298	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTCCACACTTCCAAAGATGTT	0.338																																						dbGAP											0													52.0	50.0	50.0					9																	85924483		1804	4070	5874	-	-	-	SO:0001587	stop_gained	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.894G>A	9.37:g.85924483C>T	ENSP00000303508:p.Trp298*		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Nonsense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.W298*	ENST00000304195.3	37	c.894	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.254537	0.98727	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195;ENST00000431299;ENST00000376422	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.295	0.94118	0.0:1.0:0.0:0.0	.	.	.	.	X	298;104;298;67;194	.	ENSP00000303508:W298X	W	-	3	0	FRMD3	85114303	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.588000	0.82629	2.726000	0.93360	0.655000	0.94253	TGG	FRMD3	-	pfam_FERM_PH-like_C,pfscan_FERM_domain	ENSG00000172159		0.338	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	34	0.00	0	C	NM_174938		85924483	85924483	-1	no_errors	ENST00000304195	ensembl	human	known	69_37n	nonsense	21	34.38	11	SNP	1.000	T
FSHR	2492	genome.wustl.edu	37	2	49210299	49210299	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:49210299C>G	ENST00000406846.2	-	7	650	c.531G>C	c.(529-531)ctG>ctC	p.L177L	FSHR_ENST00000346173.3_Silent_p.L177L|FSHR_ENST00000304421.4_Silent_p.L151L|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	177					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CATTCTTATTCAGCCATCTGA	0.398									Gonadal Dysgenesis, 46 XX																													dbGAP											0													79.0	78.0	78.0					2																	49210299		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.531G>C	2.37:g.49210299C>G			A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt	p.L177	ENST00000406846.2	37	c.531	CCDS1843.1	2																																																																																			FSHR	-	NULL	ENSG00000170820		0.398	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	149	0.00	0	C			49210299	49210299	-1	no_errors	ENST00000406846	ensembl	human	known	69_37n	silent	52	40.91	36	SNP	1.000	G
DDX42	11325	genome.wustl.edu	37	17	61897324	61897324	+	IGR	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:61897324C>G	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.E794D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CATGGCGTTTCTCCTTGCCAA	0.537																																						dbGAP											0													127.0	120.0	122.0					17																	61897324		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897324C>G			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.E794D	ENST00000578681.1	37	c.2382	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430854	0.43122	.	.	ENSG00000108592	ENST00000427159	T	0.32023	1.47	4.77	3.78	0.43462	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	0.000000	0.64402	D	0.000004	T	0.42040	0.1185	L	0.43701	1.375	0.46376	D	0.99901	D	0.76494	0.999	D	0.70016	0.967	T	0.05954	-1.0854	10	0.29301	T	0.29	-31.3758	11.0985	0.48160	0.0:0.9069:0.0:0.0931	.	794	Q8IY81	RRMJ3_HUMAN	D	794	ENSP00000396673:E794D	ENSP00000396673:E794D	E	-	3	2	FTSJ3	59251056	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	1.151000	0.31651	2.475000	0.83589	0.467000	0.42956	GAG	FTSJ3	-	pfam_rRNA_MeTfrase_Spb1_C	ENSG00000108592		0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444368.1	419	0.00	0	C	NM_007372		61897324	61897324	-1	no_errors	ENST00000427159	ensembl	human	known	69_37n	missense	121	38.89	77	SNP	1.000	G
FUT11	170384	genome.wustl.edu	37	10	75533554	75533554	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:75533554G>C	ENST00000372841.3	+	2	1358	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q	AC022400.2_ENST00000595757.1_5'Flank|FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Missense_Mutation_p.E439Q|RMRPP1_ENST00000517236.1_RNA	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	439					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CAATGTGGAAGAGATTCCTGA	0.552																																						dbGAP											0													60.0	64.0	63.0					10																	75533554		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1315G>C	10.37:g.75533554G>C	ENSP00000361932:p.Glu439Gln		Q495W7|Q8IYE4	Missense_Mutation	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.E439Q	ENST00000372841.3	37	c.1315	CCDS7333.1	10	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642423	0.47153	.	.	ENSG00000196968	ENST00000372841;ENST00000394790	T;T	0.38240	1.33;1.15	5.68	5.68	0.88126	.	0.492646	0.24070	N	0.041840	T	0.37972	0.1023	L	0.60455	1.87	0.46185	D	0.998915	B;B	0.28291	0.044;0.206	B;B	0.23852	0.029;0.049	T	0.12785	-1.0534	10	0.23302	T	0.38	-15.7945	19.786	0.96437	0.0:0.0:1.0:0.0	.	439;439	Q495W5;Q495W5-2	FUT11_HUMAN;.	Q	439	ENSP00000361932:E439Q;ENSP00000378270:E439Q	ENSP00000361932:E439Q	E	+	1	0	FUT11	75203560	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.430000	0.73391	2.676000	0.91093	0.563000	0.77884	GAG	FUT11	-	pirsf_Alpha-1_3-FUT_met	ENSG00000196968		0.552	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT11	HGNC	protein_coding	OTTHUMT00000048689.1	21	0.00	0	G	NM_173540		75533554	75533554	+1	no_errors	ENST00000372841	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	C
FYCO1	79443	genome.wustl.edu	37	3	46010171	46010171	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:46010171C>G	ENST00000296137.2	-	8	860	c.655G>C	c.(655-657)Gac>Cac	p.D219H	FYCO1_ENST00000535325.1_Missense_Mutation_p.D219H	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	219					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGGTCAAAGTTGGAC	0.493																																						dbGAP											0													54.0	53.0	54.0					3																	46010171		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.655G>C	3.37:g.46010171C>G	ENSP00000296137:p.Asp219His		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.D219H	ENST00000296137.2	37	c.655	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923845	0.73213	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.22134	2.0;1.97	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.44871	0.1314	M	0.74258	2.255	0.46437	D	0.999041	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.979	T	0.40515	-0.9559	10	0.72032	D	0.01	-33.4843	11.8712	0.52520	0.0:0.9197:0.0:0.0803	.	219;219	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	H	219	ENSP00000296137:D219H;ENSP00000441178:D219H	ENSP00000296137:D219H	D	-	1	0	FYCO1	45985175	1.000000	0.71417	0.995000	0.50966	0.854000	0.48673	3.728000	0.54991	2.547000	0.85894	0.563000	0.77884	GAC	FYCO1	-	NULL	ENSG00000163820		0.493	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	25	0.00	0	C	NM_024513		46010171	46010171	-1	no_errors	ENST00000535325	ensembl	human	known	69_37n	missense	30	28.57	12	SNP	0.990	G
FZD6	8323	genome.wustl.edu	37	8	104337379	104337379	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:104337379G>A	ENST00000358755.4	+	4	1362	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	FZD6_ENST00000523739.1_Missense_Mutation_p.E317K|FZD6_ENST00000540287.1_Missense_Mutation_p.E44K|FZD6_ENST00000522566.1_Missense_Mutation_p.E349K	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	349					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GAACAAAGTTGAAGGAGACAA	0.453																																						dbGAP											0													208.0	193.0	198.0					8																	104337379		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1045G>A	8.37:g.104337379G>A	ENSP00000351605:p.Glu349Lys		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.E349K	ENST00000358755.4	37	c.1045	CCDS6298.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.245680	0.95272	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	6.17	6.17	0.99709	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92701	0.7680	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;0.998;1.0	D	0.92479	0.5991	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	294;44;349;349	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	K	349;349;317;44;294	ENSP00000429055:E349K;ENSP00000351605:E349K;ENSP00000429528:E317K;ENSP00000443757:E44K	ENSP00000351605:E349K	E	+	1	0	FZD6	104406555	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAA	FZD6	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000164930		0.453	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	HGNC	protein_coding	OTTHUMT00000380560.1	130	0.76	1	G	NM_003506		104337379	104337379	+1	no_errors	ENST00000358755	ensembl	human	known	69_37n	missense	108	36.63	63	SNP	1.000	A
GABBR2	9568	genome.wustl.edu	37	9	101133761	101133761	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:101133761C>T	ENST00000259455.2	-	12	2214	c.1755G>A	c.(1753-1755)gtG>gtA	p.V585V		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	585					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCTTCATTTTCACATTTTTGA	0.458																																						dbGAP											0													132.0	122.0	125.0					9																	101133761		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1755G>A	9.37:g.101133761C>T			O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.V585	ENST00000259455.2	37	c.1755	CCDS6736.1	9																																																																																			GABBR2	-	pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C	ENSG00000136928		0.458	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	145	0.00	0	C			101133761	101133761	-1	no_errors	ENST00000259455	ensembl	human	known	69_37n	silent	47	46.59	41	SNP	1.000	T
GABRA4	2557	genome.wustl.edu	37	4	46930718	46930718	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:46930718C>T	ENST00000264318.3	-	9	2171	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	397					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ACATCAGATTCAGAGTGAACC	0.358																																					Ovarian(6;283 369 8234 12290 33402)	dbGAP											0													62.0	62.0	62.0					4																	46930718		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1189G>A	4.37:g.46930718C>T	ENSP00000264318:p.Glu397Lys		Q8IYR7	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.E397K	ENST00000264318.3	37	c.1189	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136889	0.56936	.	.	ENSG00000109158	ENST00000264318	D	0.85702	-2.02	5.72	5.72	0.89469	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.530910	0.03727	N	0.252885	T	0.82093	0.4962	L	0.29908	0.895	0.36945	D	0.892558	B	0.22276	0.067	B	0.23852	0.049	T	0.52102	-0.8620	10	0.15952	T	0.53	.	17.0312	0.86461	0.0:1.0:0.0:0.0	.	397	P48169	GBRA4_HUMAN	K	397	ENSP00000264318:E397K	ENSP00000264318:E397K	E	-	1	0	GABRA4	46625475	0.994000	0.37717	0.814000	0.32528	0.985000	0.73830	4.524000	0.60552	2.711000	0.92665	0.655000	0.94253	GAA	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000109158		0.358	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	31	0.00	0	C			46930718	46930718	-1	no_errors	ENST00000264318	ensembl	human	known	69_37n	missense	21	44.74	17	SNP	0.670	T
GABRA5	2558	genome.wustl.edu	37	15	27185190	27185190	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:27185190G>A	ENST00000335625.5	+	9	1731	c.843G>A	c.(841-843)ctG>ctA	p.L281L	GABRB3_ENST00000541819.2_5'Flank|GABRA5_ENST00000355395.5_Silent_p.L281L|GABRA5_ENST00000400081.3_Silent_p.L281L	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	281					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCTTTTGGCTGAACCGGGAAT	0.517																																						dbGAP											0													92.0	85.0	87.0					15																	27185190		1938	4162	6100	-	-	-	SO:0001819	synonymous_variant	0				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.843G>A	15.37:g.27185190G>A			A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L281	ENST00000335625.5	37	c.843	CCDS45194.1	15																																																																																			GABRA5	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000186297		0.517	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1	92	0.00	0	G			27185190	27185190	+1	no_errors	ENST00000335625	ensembl	human	known	69_37n	silent	43	44.87	35	SNP	0.998	A
GABRG1	2565	genome.wustl.edu	37	4	46043085	46043085	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:46043085C>T	ENST00000295452.4	-	9	1485	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	440					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAATAAGAGTCAATTTTGGCA	0.393																																						dbGAP											0													122.0	124.0	123.0					4																	46043085		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1318G>A	4.37:g.46043085C>T	ENSP00000295452:p.Asp440Asn		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D440N	ENST00000295452.4	37	c.1318	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.410269	0.96072	.	.	ENSG00000163285	ENST00000295452	D	0.87966	-2.32	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95360	0.8494	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96400	0.9296	10	0.87932	D	0	.	17.9991	0.89193	0.0:1.0:0.0:0.0	.	440	Q8N1C3	GBRG1_HUMAN	N	440	ENSP00000295452:D440N	ENSP00000295452:D440N	D	-	1	0	GABRG1	45737842	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.741000	0.84997	2.495000	0.84180	0.460000	0.39030	GAC	GABRG1	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt	ENSG00000163285		0.393	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	46	0.00	0	C	NM_173536		46043085	46043085	-1	no_errors	ENST00000295452	ensembl	human	known	69_37n	missense	37	56.47	48	SNP	1.000	T
GABRB1	2560	genome.wustl.edu	37	4	47405379	47405379	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:47405379G>A	ENST00000295454.3	+	6	881	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	GABRB1_ENST00000538619.1_Missense_Mutation_p.E127K	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	197					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAATGGAGGAGAAGGGGCAGT	0.378																																						dbGAP											0													145.0	138.0	140.0					4																	47405379		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.589G>A	4.37:g.47405379G>A	ENSP00000295454:p.Glu197Lys		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.E197K	ENST00000295454.3	37	c.589	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839261	0.51057	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.78481	-1.18;-1.18	5.42	5.42	0.78866	Neurotransmitter-gated ion-channel ligand-binding (3);	0.559402	0.18519	N	0.138826	T	0.58666	0.2138	N	0.04297	-0.235	0.45439	D	0.99841	B;B	0.17038	0.016;0.02	B;B	0.15870	0.013;0.014	T	0.54609	-0.8268	10	0.29301	T	0.29	-24.4599	14.653	0.68811	0.0712:0.0:0.9287:0.0	.	127;197	F5GXV5;P18505	.;GBRB1_HUMAN	K	197;127	ENSP00000295454:E197K;ENSP00000440330:E127K	ENSP00000295454:E197K	E	+	1	0	GABRB1	47100136	1.000000	0.71417	0.997000	0.53966	0.684000	0.39900	4.774000	0.62339	2.820000	0.97059	0.650000	0.86243	GAA	GABRB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000163288		0.378	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	118	0.00	0	G			47405379	47405379	+1	no_errors	ENST00000295454	ensembl	human	known	69_37n	missense	157	36.29	90	SNP	1.000	A
GABRG2	2566	genome.wustl.edu	37	5	161524772	161524772	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:161524772C>T	ENST00000361925.4	+	4	676	c.456C>T	c.(454-456)ttC>ttT	p.F152F	GABRG2_ENST00000414552.2_Silent_p.F152F|GABRG2_ENST00000356592.3_Silent_p.F152F|GABRG2_ENST00000393933.4_Silent_p.F57F			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	152					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACACTTTCTTCAGAAATTCCA	0.433																																						dbGAP											0													95.0	96.0	96.0					5																	161524772		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.456C>T	5.37:g.161524772C>T			F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F152	ENST00000361925.4	37	c.456	CCDS4358.1	5																																																																																			GABRG2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000113327		0.433	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1	73	0.00	0	C			161524772	161524772	+1	no_errors	ENST00000356592	ensembl	human	known	69_37n	silent	62	40.38	42	SNP	1.000	T
GALNT5	11227	genome.wustl.edu	37	2	158162339	158162339	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:158162339G>C	ENST00000259056.4	+	8	3003	c.2518G>C	c.(2518-2520)Gag>Cag	p.E840Q		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	840	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|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)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TGGGAGCAAAGAGGTATGCTA	0.383																																						dbGAP											0													147.0	130.0	136.0					2																	158162339		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2518G>C	2.37:g.158162339G>C	ENSP00000259056:p.Glu840Gln		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E840Q	ENST00000259056.4	37	c.2518	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	G	3.049	-0.195806	0.06259	.	.	ENSG00000136542	ENST00000259056	T	0.26660	1.72	5.71	-7.72	0.01250	Ricin B-related lectin (1);Ricin B lectin (3);	0.899592	0.09474	N	0.797278	T	0.06142	0.0159	N	0.00707	-1.245	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.44620	-0.9316	10	0.36615	T	0.2	.	9.1461	0.36933	0.2445:0.5522:0.2033:0.0	.	840	Q7Z7M9	GALT5_HUMAN	Q	840	ENSP00000259056:E840Q	ENSP00000259056:E840Q	E	+	1	0	GALNT5	157870585	0.025000	0.19082	0.004000	0.12327	0.184000	0.23303	-0.028000	0.12350	-1.806000	0.01237	-0.302000	0.09304	GAG	GALNT5	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000136542		0.383	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	180	0.00	0	G	NM_014568		158162339	158162339	+1	no_errors	ENST00000259056	ensembl	human	known	69_37n	missense	156	42.44	115	SNP	0.009	C
GAPVD1	26130	genome.wustl.edu	37	9	128117073	128117073	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:128117073G>C	ENST00000495955.1	+	24	4054	c.3764G>C	c.(3763-3765)aGa>aCa	p.R1255T	GAPVD1_ENST00000394105.2_Missense_Mutation_p.R1264T|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R1237T|GAPVD1_ENST00000470056.1_Missense_Mutation_p.R1210T|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R1229T|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R1255T|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R1189T|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R1216T			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1255					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTCTGTGTGAGATTACTGCTT	0.423																																						dbGAP											0													171.0	171.0	171.0					9																	128117073		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3764G>C	9.37:g.128117073G>C	ENSP00000419063:p.Arg1255Thr		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.R1264T	ENST00000495955.1	37	c.3791		9	.	.	.	.	.	.	.	.	.	.	G	33	5.222782	0.95139	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	L	0.54323	1.7	0.80722	D	1	B;D;P;P;P;P	0.55172	0.369;0.97;0.502;0.84;0.694;0.741	B;P;P;P;P;P	0.52267	0.37;0.625;0.574;0.694;0.574;0.694	T	0.72043	-0.4409	9	0.87932	D	0	.	19.6603	0.95864	0.0:0.0:1.0:0.0	.	1255;270;1210;1216;1237;1264	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	T	1210;1264;1255;1229;1189;1255;1237;1216	.	ENSP00000265956:R1229T	R	+	2	0	GAPVD1	127156894	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	AGA	GAPVD1	-	NULL	ENSG00000165219		0.423	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	45	0.00	0	G			128117073	128117073	+1	no_errors	ENST00000394105	ensembl	human	known	69_37n	missense	66	25.00	22	SNP	1.000	C
GAS2L3	283431	genome.wustl.edu	37	12	101018195	101018195	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:101018195C>G	ENST00000539410.1	+	9	1998	c.1612C>G	c.(1612-1614)Caa>Gaa	p.Q538E	GAS2L3_ENST00000266754.5_Missense_Mutation_p.Q538E|GAS2L3_ENST00000547754.1_Missense_Mutation_p.Q538E|GAS2L3_ENST00000537247.1_Missense_Mutation_p.Q434E			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	538					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)	p.Q538E(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AACACAGTCTCAACCATCCGA	0.453																																						dbGAP											1	Substitution - Missense(1)	pancreas(1)											48.0	48.0	48.0					12																	101018195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1612C>G	12.37:g.101018195C>G	ENSP00000439672:p.Gln538Glu		B2RCN2	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.Q538E	ENST00000539410.1	37	c.1612	CCDS9079.1	12	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344006	0.24339	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.23754	1.92;1.92;1.89;1.92	5.53	4.62	0.57501	.	0.469554	0.21003	N	0.081821	T	0.23965	0.0580	M	0.61703	1.905	0.24939	N	0.991867	B	0.30406	0.278	B	0.27887	0.084	T	0.14671	-1.0464	10	0.24483	T	0.36	-1.3118	9.0749	0.36515	0.1482:0.7788:0.0:0.073	.	538	Q86XJ1	GA2L3_HUMAN	E	538;538;434;538	ENSP00000266754:Q538E;ENSP00000448955:Q538E;ENSP00000442406:Q434E;ENSP00000439672:Q538E	ENSP00000266754:Q538E	Q	+	1	0	GAS2L3	99542326	0.001000	0.12720	0.260000	0.24451	0.215000	0.24574	0.598000	0.24074	1.297000	0.44761	0.655000	0.94253	CAA	GAS2L3	-	NULL	ENSG00000139354		0.453	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	HGNC	protein_coding	OTTHUMT00000409143.1	43	0.00	0	C	NM_174942		101018195	101018195	+1	no_errors	ENST00000266754	ensembl	human	known	69_37n	missense	38	39.68	25	SNP	0.980	G
GFPT2	9945	genome.wustl.edu	37	5	179763566	179763566	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:179763566C>T	ENST00000253778.8	-	3	296	c.127G>A	c.(127-129)Gat>Aat	p.D43N		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	43	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TTATTCCCATCGATCGCCACA	0.473																																						dbGAP											0													204.0	211.0	209.0					5																	179763566		2030	4198	6228	-	-	-	SO:0001583	missense	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.127G>A	5.37:g.179763566C>T	ENSP00000253778:p.Asp43Asn		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.D43N	ENST00000253778.8	37	c.127	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326688	0.81690	.	.	ENSG00000131459	ENST00000253778	T	0.76709	-1.04	6.17	6.17	0.99709	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	D	0.87849	0.6281	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85531	0.1209	9	.	.	.	-32.798	20.4898	0.99202	0.0:1.0:0.0:0.0	.	43	O94808	GFPT2_HUMAN	N	43	ENSP00000253778:D43N	.	D	-	1	0	GFPT2	179696172	1.000000	0.71417	0.970000	0.41538	0.068000	0.16541	7.432000	0.80349	2.941000	0.99782	0.655000	0.94253	GAT	GFPT2	-	pfam_GATase_dom	ENSG00000131459		0.473	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	56	0.00	0	C	NM_005110		179763566	179763566	-1	no_errors	ENST00000253778	ensembl	human	known	69_37n	missense	114	34.48	60	SNP	1.000	T
GJB4	127534	genome.wustl.edu	37	1	35227506	35227506	+	Silent	SNP	C	C	T	rs565502726		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:35227506C>T	ENST00000339480.1	+	2	1021	c.651C>T	c.(649-651)ttC>ttT	p.F217F	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	217					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGGAGATCTTCGGCCCCAGGC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20436	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													68.0	64.0	65.0					1																	35227506		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.651C>T	1.37:g.35227506C>T			B3KQ82	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303	p.F217	ENST00000339480.1	37	c.651	CCDS383.1	1																																																																																			GJB4	-	NULL	ENSG00000189433		0.602	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB4	HGNC	protein_coding	OTTHUMT00000011560.1	39	0.00	0	C	NM_153212		35227506	35227506	+1	no_errors	ENST00000339480	ensembl	human	known	69_37n	silent	16	33.33	8	SNP	0.000	T
GGPS1	9453	genome.wustl.edu	37	1	235505413	235505413	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:235505413C>T	ENST00000282841.5	+	4	461	c.229C>T	c.(229-231)Cca>Tca	p.P77S	GGPS1_ENST00000391855.2_Missense_Mutation_p.P23S|GGPS1_ENST00000488594.1_Missense_Mutation_p.P77S|GGPS1_ENST00000476121.1_Missense_Mutation_p.P77S|GGPS1_ENST00000358966.2_Missense_Mutation_p.P77S			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	77					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	ACGTGGCTTTCCAGTGGCCCA	0.393																																						dbGAP											0													56.0	52.0	53.0					1																	235505413		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.229C>T	1.37:g.235505413C>T	ENSP00000282841:p.Pro77Ser		A8MVQ8|Q5T2C8|Q6NW19	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.P77S	ENST00000282841.5	37	c.229	CCDS1604.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929427	0.92389	.	.	ENSG00000152904	ENST00000488594;ENST00000471812;ENST00000358966;ENST00000282841;ENST00000391855;ENST00000476121;ENST00000497327	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	6.17	6.17	0.99709	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.90277	0.6959	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90369	0.4379	10	0.54805	T	0.06	-15.1139	20.8794	0.99867	0.0:1.0:0.0:0.0	.	77	O95749	GGPPS_HUMAN	S	77;77;77;77;23;77;77	ENSP00000418690:P77S;ENSP00000417772:P77S;ENSP00000351852:P77S;ENSP00000282841:P77S;ENSP00000375728:P23S;ENSP00000420183:P77S;ENSP00000417865:P77S	ENSP00000282841:P77S	P	+	1	0	GGPS1	233572036	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCA	GGPS1	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000152904		0.393	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGPS1	HGNC	protein_coding	OTTHUMT00000092656.1	29	0.00	0	C	NM_004837		235505413	235505413	+1	no_errors	ENST00000282841	ensembl	human	known	69_37n	missense	55	21.43	15	SNP	1.000	T
GLCE	26035	genome.wustl.edu	37	15	69561130	69561130	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:69561130C>T	ENST00000261858.2	+	5	1629	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	GLCE_ENST00000559420.2_Silent_p.L403L	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	467					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ATATATTCCTCAATTCAGCTT	0.408																																						dbGAP											0													57.0	63.0	61.0					15																	69561130		2200	4298	6498	-	-	-	SO:0001819	synonymous_variant	0			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1401C>T	15.37:g.69561130C>T			Q6GUQ2	Silent	SNP	pfam_C5-epim	p.L467	ENST00000261858.2	37	c.1401	CCDS32277.1	15																																																																																			GLCE	-	pfam_C5-epim	ENSG00000138604		0.408	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding		25	0.00	0	C	NM_015554		69561130	69561130	+1	no_errors	ENST00000261858	ensembl	human	known	69_37n	silent	29	56.06	37	SNP	0.974	T
GLI2	2736	genome.wustl.edu	37	2	121712909	121712909	+	Silent	SNP	C	C	G	rs200028917		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:121712909C>G	ENST00000452319.1	+	5	606	c.546C>G	c.(544-546)ctC>ctG	p.L182L	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.L182L					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGATGACCCTCGTGGCAGGCC	0.662																																						dbGAP											0													54.0	50.0	51.0					2																	121712909		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.546C>G	2.37:g.121712909C>G				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L182	ENST00000452319.1	37	c.546	CCDS33283.1	2																																																																																			GLI2	-	NULL	ENSG00000074047		0.662	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	21	0.00	0	C	NM_005270		121712909	121712909	+1	no_errors	ENST00000361492	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	1.000	G
GLRX2	51022	genome.wustl.edu	37	1	193074729	193074729	+	5'Flank	SNP	G	G	C	rs1075661		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:193074729G>C	ENST00000367439.3	-	0	0				GLRX2_ENST00000472197.1_Intron|GLRX2_ENST00000367440.3_Missense_Mutation_p.L14V	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)	p.L14L(1)		breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	ACATCCTTTAGAGGGGAGAAG	0.617																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											57.0	59.0	59.0					1																	193074729		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"""bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"""	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677		1.37:g.193074729G>C	Exception_encountered		Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir	p.L14V	ENST00000367439.3	37	c.40	CCDS1381.1	1	.	.	.	.	.	.	.	.	.	.	G	6.328	0.428632	0.11987	.	.	ENSG00000023572	ENST00000367440	T	0.36340	1.26	1.63	-0.895	0.10560	.	7742.900000	0.00166	U	0.000000	T	0.26593	0.0650	.	.	.	0.09310	N	1	B	0.19706	0.038	B	0.12837	0.008	T	0.25537	-1.0129	9	0.87932	D	0	0.0663	3.2862	0.06932	0.2183:0.4112:0.3706:0.0	rs1075661;rs7412768	14	Q9NS18-2	.	V	14	ENSP00000356410:L14V	ENSP00000356410:L14V	L	-	1	2	GLRX2	191341352	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.015000	0.13355	-0.220000	0.09988	0.195000	0.17529	CTA	GLRX2	-	NULL	ENSG00000023572		0.617	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLRX2	HGNC	protein_coding	OTTHUMT00000086699.1	20	0.00	0	G	NM_016066		193074729	193074729	-1	no_errors	ENST00000367440	ensembl	human	known	69_37n	missense	37	20.83	10	SNP	0.001	C
GMNN	51053	genome.wustl.edu	37	6	24784392	24784392	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:24784392G>C	ENST00000230056.3	+	5	684	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	GMNN_ENST00000356509.3_Missense_Mutation_p.E118Q	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	118	Necessary and sufficient for interaction with IDAS and CDT1.				mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						TAAGGAAAATGAGAAAGTATG	0.313																																						dbGAP											0													44.0	47.0	46.0					6																	24784392		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.352G>C	6.37:g.24784392G>C	ENSP00000230056:p.Glu118Gln		B3KMM8|Q9H1Z1	Missense_Mutation	SNP	pfam_Geminin_fam	p.E118Q	ENST00000230056.3	37	c.352	CCDS4560.1	6	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608928	0.87258	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054	T;T;T	0.26518	1.73;1.73;1.73	5.77	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50491	-0.8822	10	0.54805	T	0.06	-13.4891	16.2652	0.82574	0.0:0.0:0.8663:0.1337	.	118	O75496	GEMI_HUMAN	Q	118	ENSP00000348902:E118Q;ENSP00000230056:E118Q;ENSP00000367293:E118Q	ENSP00000230056:E118Q	E	+	1	0	GMNN	24892371	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.238000	0.89809	1.517000	0.48917	0.650000	0.86243	GAG	GMNN	-	pfam_Geminin_fam	ENSG00000112312		0.313	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNN	HGNC	protein_coding	OTTHUMT00000040021.2	23	0.00	0	G	NM_015895		24784392	24784392	+1	no_errors	ENST00000230056	ensembl	human	known	69_37n	missense	38	28.30	15	SNP	1.000	C
GNAZ	2781	genome.wustl.edu	37	22	23465379	23465379	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:23465379G>C	ENST00000248996.4	+	3	1495	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	277					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCTGCTGGCAGAGAAGATCCG	0.547																																						dbGAP											0													89.0	83.0	85.0					22																	23465379		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.829G>C	22.37:g.23465379G>C	ENSP00000248996:p.Glu277Gln		B2R6C1|Q4QRJ6	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.E277Q	ENST00000248996.4	37	c.829	CCDS13804.1	22	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204588	0.58234	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.89875	-2.58	5.14	4.11	0.48088	.	0.056722	0.64402	D	0.000001	D	0.91710	0.7379	L	0.47078	1.49	0.80722	D	1	P	0.49862	0.929	D	0.65140	0.932	D	0.92057	0.5653	10	0.56958	D	0.05	.	15.0207	0.71630	0.0:0.1431:0.8569:0.0	.	277	P19086	GNAZ_HUMAN	Q	277;225	ENSP00000248996:E277Q	ENSP00000248996:E277Q	E	+	1	0	GNAZ	21795379	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.705000	0.84606	1.303000	0.44873	0.655000	0.94253	GAG	GNAZ	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su	ENSG00000128266		0.547	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAZ	HGNC	protein_coding	OTTHUMT00000319073.1	39	0.00	0	G	NM_002073		23465379	23465379	+1	no_errors	ENST00000248996	ensembl	human	known	69_37n	missense	52	42.22	38	SNP	1.000	C
GOLGA6L2	283685	genome.wustl.edu	37	15	23686032	23686032	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:23686032C>G	ENST00000567107.1	-	8	1642	c.1590G>C	c.(1588-1590)gaG>gaC	p.E530D	GOLGA6L2_ENST00000345070.5_Missense_Mutation_p.E257D|GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.E530D			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	530	Glu-rich.									breast(1)|endometrium(7)	8						acatcttcttctcctgccccc	0.582																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1590G>C	15.37:g.23686032C>G	ENSP00000454407:p.Glu530Asp		A1L301	Missense_Mutation	SNP	prints_Tropomyosin	p.E257D	ENST00000567107.1	37	c.771		15	.	.	.	.	.	.	.	.	.	.	N	7.185	0.590362	0.13812	.	.	ENSG00000174450	ENST00000345070;ENST00000312015	T;T	0.56444	0.46;2.78	.	.	.	.	.	.	.	.	T	0.30665	0.0772	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.23150	0.044	T	0.16453	-1.0402	6	0.23891	T	0.37	.	.	.	.	.	530	Q8N9W4	GG6L2_HUMAN	D	257;530	ENSP00000344626:E257D;ENSP00000307928:E530D	ENSP00000307928:E530D	E	-	3	2	GOLGA6L2	21237125	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.271000	0.18626	-0.437000	0.07243	0.000000	0.15137	GAG	GOLGA6L2	-	NULL	ENSG00000174450		0.582	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	44	0.00	0	C	NM_182561		23686032	23686032	-1	no_errors	ENST00000345070	ensembl	human	known	69_37n	missense	182	34.06	94	SNP	0.001	G
GON4L	54856	genome.wustl.edu	37	1	155720476	155720476	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:155720476C>T	ENST00000368331.1	-	32	6673	c.6625G>A	c.(6625-6627)Gaa>Aaa	p.E2209K	GON4L_ENST00000437809.1_Missense_Mutation_p.E2208K|GON4L_ENST00000271883.5_Missense_Mutation_p.E2208K	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2209					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAGCTGGCTTCACAGGCAGTG	0.488																																						dbGAP											0													40.0	40.0	40.0					1																	155720476		1923	4120	6043	-	-	-	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.6625G>A	1.37:g.155720476C>T	ENSP00000357315:p.Glu2209Lys		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E2209K	ENST00000368331.1	37	c.6625		1	.	.	.	.	.	.	.	.	.	.	-	25.5	4.645602	0.87958	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10960	2.82;2.82;2.82	4.88	3.96	0.45880	Homeodomain-like (1);	0.171732	0.40728	N	0.001034	T	0.11793	0.0287	L	0.57536	1.79	0.33403	D	0.577572	P;D	0.55605	0.953;0.972	P;P	0.53912	0.551;0.737	T	0.01988	-1.1234	10	0.52906	T	0.07	.	13.1656	0.59569	0.0:0.9217:0.0:0.0783	.	2209;2208	Q3T8J9;Q3T8J9-3	GON4L_HUMAN;.	K	2208;2209;2208	ENSP00000396117:E2208K;ENSP00000357315:E2209K;ENSP00000271883:E2208K	ENSP00000271883:E2208K	E	-	1	0	GON4L	153987100	0.990000	0.36364	0.992000	0.48379	0.994000	0.84299	2.831000	0.48144	1.283000	0.44513	0.549000	0.68633	GAA	GON4L	-	superfamily_Homeodomain-like	ENSG00000116580		0.488	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		132	0.00	0	C	NM_032292		155720476	155720476	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	134	31.12	61	SNP	0.995	T
GP6	51206	genome.wustl.edu	37	19	55525836	55525836	+	3'UTR	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:55525836G>C	ENST00000417454.1	-	0	1500				CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.H493D	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GAGATGGAGTGAGGGTGAGAG	0.493																																						dbGAP											0													93.0	93.0	93.0					19																	55525836		1960	4158	6118	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*453C>G	19.37:g.55525836G>C			Q9HCN7|Q9UIF2	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2	p.H493D	ENST00000417454.1	37	c.1477	CCDS46184.1	19	.	.	.	.	.	.	.	.	.	.	G	9.427	1.084602	0.20309	.	.	ENSG00000088053	ENST00000310373	T	0.00535	6.73	1.56	-1.16	0.09678	.	.	.	.	.	T	0.00440	0.0014	.	.	.	0.09310	N	1	B	0.19706	0.038	B	0.15052	0.012	T	0.42085	-0.9472	8	0.87932	D	0	.	5.9266	0.19116	0.0:0.0:0.4469:0.5531	.	493	Q9HCN6-3	.	D	493	ENSP00000308782:H493D	ENSP00000308782:H493D	H	-	1	0	GP6	60217648	0.000000	0.05858	0.020000	0.16555	0.021000	0.10359	-0.245000	0.08890	-0.369000	0.08028	-0.268000	0.10319	CAC	GP6	-	NULL	ENSG00000088053		0.493	GP6-001	KNOWN	basic|CCDS	protein_coding	GP6	HGNC	protein_coding	OTTHUMT00000357006.1	120	0.00	0	G			55525836	55525836	-1	no_errors	ENST00000310373	ensembl	human	known	69_37n	missense	34	38.18	21	SNP	0.029	C
GPATCH8	23131	genome.wustl.edu	37	17	42478352	42478352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:42478352G>A	ENST00000591680.1	-	8	1123	c.1093C>T	c.(1093-1095)Cag>Tag	p.Q365*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.Q287*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	365							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCTCCATCCTGAGGGTCTTCA	0.463											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													103.0	103.0	103.0					17																	42478352		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1093C>T	17.37:g.42478352G>A	ENSP00000467556:p.Gln365*	909	B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.Q365*	ENST00000591680.1	37	c.1093	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432082	0.83776	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	5.22	5.22	0.72569	.	0.217336	0.36338	N	0.002653	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-7.7785	18.9747	0.92731	0.0:0.0:1.0:0.0	.	.	.	.	X	365;287	.	ENSP00000335486:Q365X	Q	-	1	0	GPATCH8	39833878	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.675000	0.61619	2.701000	0.92244	0.557000	0.71058	CAG	GPATCH8	-	NULL	ENSG00000186566		0.463	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	68	0.00	0	G	NM_001002909		42478352	42478352	-1	no_errors	ENST00000591680	ensembl	human	known	69_37n	nonsense	19	62.00	31	SNP	0.999	A
GPR113	165082	genome.wustl.edu	37	2	26569092	26569092	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:26569092C>T	ENST00000333478.6	-	1	593	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	GPR113_ENST00000541401.1_5'UTR|EPT1_ENST00000462301.1_3'UTR|GPR113_ENST00000459892.1_5'Flank|EPT1_ENST00000260585.7_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	0					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCAGTTTTCGGGTCGTCAT	0.637																																						dbGAP											0													49.0	56.0	53.0					2																	26569092		2144	4241	6385	-	-	-	SO:0001583	missense	0			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000333478.6:c.11G>A	2.37:g.26569092C>T	ENSP00000327396:p.Arg4Gln		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R4Q	ENST00000333478.6	37	c.11	CCDS33159.2	2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218520	0.79464	.	.	ENSG00000173567	ENST00000333478;ENST00000433584	T	0.31247	1.5	5.82	5.82	0.92795	.	.	.	.	.	T	0.57272	0.2042	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.59989	-0.7350	8	0.87932	D	0	.	15.6093	0.76704	0.0:1.0:0.0:0.0	.	4	Q8IZF5-2	.	Q	4	ENSP00000327396:R4Q	ENSP00000327396:R4Q	R	-	2	0	GPR113	26422596	0.059000	0.20769	0.970000	0.41538	0.983000	0.72400	1.221000	0.32503	2.749000	0.94314	0.609000	0.83330	CGA	GPR113	-	NULL	ENSG00000173567		0.637	GPR113-009	KNOWN	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000317218.1	42	0.00	0	C	NM_153835		26569092	26569092	-1	no_errors	ENST00000333478	ensembl	human	known	69_37n	missense	46	37.84	28	SNP	0.975	T
GPR116	221395	genome.wustl.edu	37	6	46826994	46826994	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:46826994G>C	ENST00000283296.7	-	17	2934	c.2646C>G	c.(2644-2646)gtC>gtG	p.V882V	GPR116_ENST00000456426.2_Silent_p.V740V|GPR116_ENST00000545669.1_Silent_p.V311V|GPR116_ENST00000265417.7_Silent_p.V882V|GPR116_ENST00000362015.4_Silent_p.V882V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	882					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCTTGTCAATGACCACATTGC	0.468																																					NSCLC(59;410 1274 8751 36715 50546)	dbGAP											0													72.0	72.0	72.0					6																	46826994		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2646C>G	6.37:g.46826994G>C			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.V882	ENST00000283296.7	37	c.2646	CCDS4919.1	6																																																																																			GPR116	-	NULL	ENSG00000069122		0.468	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	91	0.00	0	G	NM_015234		46826994	46826994	-1	no_errors	ENST00000265417	ensembl	human	known	69_37n	silent	63	27.59	24	SNP	0.778	C
GPR42	2866	genome.wustl.edu	37	19	35862924	35862924	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:35862924G>C	ENST00000454971.1	+	2	864	c.663G>C	c.(661-663)agG>agC	p.R221S	GPR42_ENST00000597214.1_Missense_Mutation_p.R221S			O15529	GPR42_HUMAN	G protein-coupled receptor 42 (gene/pseudogene)	221						integral component of plasma membrane (GO:0005887)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCCGGCAGAGGAGGGTGGCGG	0.637																																						dbGAP											0													8.0	12.0	11.0					19																	35862924		1554	3113	4667	-	-	-	SO:0001583	missense	0			AF024689		19q13.12	2012-08-20	2010-02-09	2010-02-09	ENSG00000126251	ENSG00000126251		"""GPCR / Class A : Fatty acid receptors"""	4500	protein-coding gene	gene with protein product		603822	"""G protein-coupled receptor 42 pseudogene"""	GPR42P		9344866, 19630535	Standard	NG_008348		Approved	GPR41L, FFAR3L		O15529	OTTHUMG00000157124	ENST00000454971.1:c.663G>C	19.37:g.35862924G>C	ENSP00000410925:p.Arg221Ser			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.R221S	ENST00000454971.1	37	c.663		19	.	.	.	.	.	.	.	.	.	.	G	3.424	-0.117475	0.06838	.	.	ENSG00000126251	ENST00000454971	T	0.72942	-0.7	4.42	-0.346	0.12620	GPCR, rhodopsin-like superfamily (1);	1.034760	0.07643	N	0.930646	T	0.56337	0.1978	.	.	.	0.09310	N	1	B	0.33413	0.411	B	0.31946	0.138	T	0.43750	-0.9372	9	0.40728	T	0.16	-6.4697	6.9839	0.24718	0.3214:0.1228:0.5558:0.0	.	221	O15529	GPR42_HUMAN	S	221	ENSP00000410925:R221S	ENSP00000410925:R221S	R	+	3	2	GPR42	40554764	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.127000	0.10547	-0.136000	0.11475	-1.937000	0.00501	AGG	GPR42	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR40-rel_recept	ENSG00000126251		0.637	GPR42-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	GPR42	HGNC	protein_coding	OTTHUMT00000347518.1	25	0.00	0	G	NM_005305		35862924	35862924	+1	no_errors	ENST00000454971	ensembl	human	known	69_37n	missense	4	71.43	10	SNP	0.001	C
GRIN2B	2904	genome.wustl.edu	37	12	13906514	13906514	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:13906514C>T	ENST00000609686.1	-	3	956	c.747G>A	c.(745-747)ctG>ctA	p.L249L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	249					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CATAGCCAGTCAGCCCTACTG	0.512																																						dbGAP											0													105.0	103.0	104.0					12																	13906514		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.747G>A	12.37:g.13906514C>T			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L249	ENST00000609686.1	37	c.747	CCDS8662.1	12																																																																																			GRIN2B	-	pfam_ANF_lig-bd_rcpt	ENSG00000150086		0.512	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	194	0.00	0	C			13906514	13906514	-1	no_errors	ENST00000279593	ensembl	human	known	69_37n	silent	47	41.25	33	SNP	1.000	T
GRM6	2916	genome.wustl.edu	37	5	178418435	178418435	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:178418435C>G	ENST00000517717.1	-	4	885	c.847G>C	c.(847-849)Gat>Cat	p.D283H	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.D283H			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	283					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTGATGTCATCCTCATTGGCA	0.592																																						dbGAP											0													164.0	162.0	163.0					5																	178418435		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.847G>C	5.37:g.178418435C>G	ENSP00000430767:p.Asp283His			Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.D283H	ENST00000517717.1	37	c.847	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057711	0.76074	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.84223	-1.82;-1.82	5.35	5.35	0.76521	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.89525	0.6740	M	0.79805	2.47	0.80722	D	1	P	0.41710	0.76	P	0.47941	0.562	D	0.90724	0.4637	9	0.72032	D	0.01	.	16.9394	0.86213	0.0:1.0:0.0:0.0	.	283	O15303	GRM6_HUMAN	H	310;283;283	ENSP00000231188:D283H;ENSP00000430767:D283H	ENSP00000231188:D283H	D	-	1	0	GRM6	178351041	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	7.557000	0.82243	2.677000	0.91161	0.561000	0.74099	GAT	GRM6	-	pfam_ANF_lig-bd_rcpt	ENSG00000113262		0.592	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	52	0.00	0	C			178418435	178418435	-1	no_errors	ENST00000231188	ensembl	human	known	69_37n	missense	40	36.51	23	SNP	1.000	G
GSTA1	2938	genome.wustl.edu	37	6	52664036	52664036	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:52664036G>C	ENST00000334575.5	-	2	185	c.30C>G	c.(28-30)ttC>ttG	p.F10L	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	10	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	CCCGTGCATTGAAGTAGTGGA	0.458																																						dbGAP											0													117.0	110.0	113.0					6																	52664036		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.30C>G	6.37:g.52664036G>C	ENSP00000335620:p.Phe10Leu		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.F10L	ENST00000334575.5	37	c.30	CCDS4945.1	6	.	.	.	.	.	.	.	.	.	.	g	3.921	-0.018185	0.07681	.	.	ENSG00000243955	ENST00000334575	T	0.08282	3.11	2.68	1.74	0.24563	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.249428	0.39687	N	0.001298	T	0.04227	0.0117	M	0.84219	2.685	0.31520	N	0.662538	B	0.12013	0.005	B	0.20384	0.029	T	0.11867	-1.0570	10	0.52906	T	0.07	.	3.947	0.09352	0.2388:0.2055:0.5557:0.0	.	10	P08263	GSTA1_HUMAN	L	10	ENSP00000335620:F10L	ENSP00000335620:F10L	F	-	3	2	GSTA1	52771995	0.000000	0.05858	0.008000	0.14137	0.030000	0.12068	-0.843000	0.04350	0.184000	0.20083	0.313000	0.20887	TTC	GSTA1	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000243955		0.458	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA1	HGNC	protein_coding	OTTHUMT00000040922.1	87	0.00	0	G			52664036	52664036	-1	no_errors	ENST00000334575	ensembl	human	known	69_37n	missense	101	40.59	69	SNP	0.998	C
GSTA5	221357	genome.wustl.edu	37	6	52696672	52696672	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:52696672C>G	ENST00000370989.2	-	6	672	c.643G>C	c.(643-645)Gaa>Caa	p.E215Q	GSTA5_ENST00000284562.2_Missense_Mutation_p.E215Q|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	215					glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.E215K(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTCCTTGCTTCTTCTAAAGAT	0.448																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											142.0	137.0	138.0					6																	52696672		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.643G>C	6.37:g.52696672C>G	ENSP00000360028:p.Glu215Gln		Q5SZC2	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.E215Q	ENST00000370989.2	37	c.643	CCDS4946.1	6	.	.	.	.	.	.	.	.	.	.	C	1.813	-0.474265	0.04414	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.01572	4.76;4.76	2.37	-4.75	0.03239	Glutathione S-transferase, C-terminal-like (1);	0.889303	0.09686	N	0.769158	T	0.00524	0.0017	L	0.50919	1.6	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40608	-0.9554	10	0.25751	T	0.34	.	5.9242	0.19099	0.0:0.409:0.1309:0.4601	.	215	Q7RTV2	GSTA5_HUMAN	Q	215	ENSP00000360028:E215Q;ENSP00000284562:E215Q	ENSP00000284562:E215Q	E	-	1	0	GSTA5	52804631	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-3.082000	0.00613	-2.048000	0.00907	-1.206000	0.01644	GAA	GSTA5	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000182793		0.448	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA5	HGNC	protein_coding	OTTHUMT00000040917.1	239	0.00	0	C	NM_153699		52696672	52696672	-1	no_errors	ENST00000284562	ensembl	human	known	69_37n	missense	183	35.34	100	SNP	0.001	G
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72658156	72658156	+	RNA	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:72658156C>A	ENST00000425256.1	-	0	1755									GTF2I repeat domain containing 2 pseudogene 1																		ggtccatcttcaacttctgag	0.502																																						dbGAP											0																																										-	-	-			0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658156C>A				RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.502	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	37	0.00	0	C	NR_002164		72658156	72658156	-1	no_errors	ENST00000425256	ensembl	human	known	69_37n	rna	32	33.33	16	SNP	0.930	A
GTF2I	2969	genome.wustl.edu	37	7	74163414	74163414	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:74163414C>G	ENST00000324896.4	+	25	2612	c.2223C>G	c.(2221-2223)ttC>ttG	p.F741L	GTF2I_ENST00000353920.4_Missense_Mutation_p.F721L|GTF2I_ENST00000438130.2_3'UTR|GTF2I_ENST00000416070.1_Missense_Mutation_p.F700L|GTF2I_ENST00000346152.4_Missense_Mutation_p.F720L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	741					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAAATCTCTTCAATGAGAAAT	0.423																																						dbGAP											0													1.0	1.0	1.0					7																	74163414		21	55	76	-	-	-	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.2223C>G	7.37:g.74163414C>G	ENSP00000322542:p.Phe741Leu		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.F741L	ENST00000324896.4	37	c.2223	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400421	0.62177	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	4.95	3.85	0.44370	.	0.000000	0.64402	D	0.000001	T	0.75332	0.3835	L	0.61218	1.895	0.48830	D	0.999719	D;P;D;D;D	0.63046	0.992;0.885;0.982;0.99;0.985	D;P;D;D;D	0.76071	0.987;0.57;0.961;0.979;0.977	T	0.76468	-0.2948	10	0.87932	D	0	-14.0965	7.0977	0.25319	0.1617:0.6941:0.0:0.1443	.	719;700;721;720;741	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	L	741;736;721;720;700	ENSP00000322542:F741L;ENSP00000322671:F721L;ENSP00000322599:F720L;ENSP00000387651:F700L	ENSP00000322542:F741L	F	+	3	2	GTF2I	73801350	0.997000	0.39634	1.000000	0.80357	0.852000	0.48524	0.169000	0.16641	2.331000	0.79229	0.456000	0.33151	TTC	GTF2I	-	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	ENSG00000077809		0.423	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	19	0.00	0	C	NM_032999		74163414	74163414	+1	no_errors	ENST00000324896	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	G
GTF3C1	2975	genome.wustl.edu	37	16	27476706	27476706	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:27476706C>G	ENST00000356183.4	-	33	5245	c.5230G>C	c.(5230-5232)Gag>Cag	p.E1744Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1744Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1744					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCCAAGATCTCCAAGGCAGCA	0.562																																						dbGAP											0													100.0	91.0	94.0					16																	27476706		2197	4300	6497	-	-	-	SO:0001583	missense	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5230G>C	16.37:g.27476706C>G	ENSP00000348510:p.Glu1744Gln		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.E1744Q	ENST00000356183.4	37	c.5230	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326757	0.24080	.	.	ENSG00000077235	ENST00000356183	T	0.26810	1.71	4.98	4.98	0.66077	.	0.230092	0.38217	N	0.001771	T	0.48169	0.1485	M	0.61703	1.905	0.40246	D	0.978019	P;D	0.89917	0.816;1.0	B;D	0.87578	0.314;0.998	T	0.42447	-0.9451	10	0.38643	T	0.18	-23.9444	16.0507	0.80760	0.0:1.0:0.0:0.0	.	1744;1744	Q12789;Q12789-3	TF3C1_HUMAN;.	Q	1744	ENSP00000348510:E1744Q	ENSP00000348510:E1744Q	E	-	1	0	GTF3C1	27384207	1.000000	0.71417	0.842000	0.33263	0.067000	0.16453	4.066000	0.57520	2.309000	0.77851	0.585000	0.79938	GAG	GTF3C1	-	NULL	ENSG00000077235		0.562	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	52	0.00	0	C	NM_001520		27476706	27476706	-1	no_errors	ENST00000356183	ensembl	human	known	69_37n	missense	21	40.00	14	SNP	1.000	G
H1FNT	341567	genome.wustl.edu	37	12	48723142	48723142	+	Missense_Mutation	SNP	C	C	G	rs117292373	byFrequency	TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:48723142C>G	ENST00000335017.1	+	1	380	c.68C>G	c.(67-69)gCt>gGt	p.A23G		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	23					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGGGCCATGGCTGAGGCGCCT	0.652																																						dbGAP											0													14.0	17.0	16.0					12																	48723142		2201	4300	6501	-	-	-	SO:0001583	missense	0			AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.68C>G	12.37:g.48723142C>G	ENSP00000334805:p.Ala23Gly		Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	NULL	p.A23G	ENST00000335017.1	37	c.68	CCDS8762.1	12	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323127	0.60634	.	.	ENSG00000187166	ENST00000335017	T	0.30182	1.54	5.03	4.13	0.48395	.	.	.	.	.	T	0.44117	0.1278	L	0.43923	1.385	0.28010	N	0.934934	D	0.71674	0.998	D	0.68943	0.961	T	0.26883	-1.0090	9	0.87932	D	0	-6.486	9.1973	0.37235	0.0:0.8989:0.0:0.1011	.	23	Q75WM6	H1FNT_HUMAN	G	23	ENSP00000334805:A23G	ENSP00000334805:A23G	A	+	2	0	H1FNT	47009409	0.969000	0.33509	0.739000	0.30968	0.333000	0.28666	1.996000	0.40776	1.119000	0.41883	0.650000	0.86243	GCT	H1FNT	-	NULL	ENSG00000187166		0.652	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FNT	HGNC	protein_coding	OTTHUMT00000406516.1	21	0.00	0	C	NM_181788		48723142	48723142	+1	no_errors	ENST00000335017	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	0.924	G
HAS2	3037	genome.wustl.edu	37	8	122627209	122627209	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:122627209C>G	ENST00000303924.4	-	4	1336	c.799G>C	c.(799-801)Gaa>Caa	p.E267Q		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	267					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CAGGCCCTTTCTATATTAAAA	0.383																																						dbGAP											0													88.0	84.0	85.0					8																	122627209		2203	4300	6503	-	-	-	SO:0001583	missense	0			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.799G>C	8.37:g.122627209C>G	ENSP00000306991:p.Glu267Gln		Q32MM3	Missense_Mutation	SNP	pfam_Chitin_synth_fng	p.E267Q	ENST00000303924.4	37	c.799	CCDS6335.1	8	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900175	0.72754	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.59502	0.26	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85853	0.1405	10	0.87932	D	0	-24.5683	20.5596	0.99324	0.0:1.0:0.0:0.0	.	267	Q92819	HAS2_HUMAN	Q	267	ENSP00000306991:E267Q	ENSP00000306991:E267Q	E	-	1	0	HAS2	122696390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.808000	0.86044	2.868000	0.98415	0.555000	0.69702	GAA	HAS2	-	pfam_Chitin_synth_fng	ENSG00000170961		0.383	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS2	HGNC	protein_coding	OTTHUMT00000381150.2	40	0.00	0	C	NM_005328		122627209	122627209	-1	no_errors	ENST00000303924	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	1.000	G
HDX	139324	genome.wustl.edu	37	X	83724168	83724168	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:83724168G>C	ENST00000297977.5	-	3	674	c.563C>G	c.(562-564)tCa>tGa	p.S188*	HDX_ENST00000506585.2_Nonsense_Mutation_p.S130*|HDX_ENST00000373177.2_Nonsense_Mutation_p.S188*	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	188						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATTGAATACTGAGTTTCCAGC	0.393																																					Pancreas(53;231 1169 36156 43751 51139)	dbGAP											0													138.0	119.0	126.0					X																	83724168		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.563C>G	X.37:g.83724168G>C	ENSP00000297977:p.Ser188*		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S188*	ENST00000297977.5	37	c.563	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.574308	0.96553	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	.	.	.	4.9	4.9	0.64082	.	0.316428	0.31381	N	0.007748	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.2745	17.4912	0.87704	0.0:0.0:1.0:0.0	.	.	.	.	X	188;130;188;130	.	ENSP00000297977:S188X	S	-	2	0	HDX	83610824	1.000000	0.71417	0.968000	0.41197	0.984000	0.73092	6.210000	0.72176	2.402000	0.81655	0.513000	0.50165	TCA	HDX	-	NULL	ENSG00000165259		0.393	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	188	0.00	0	G	NM_144657		83724168	83724168	-1	no_errors	ENST00000297977	ensembl	human	known	69_37n	nonsense	107	35.93	60	SNP	0.997	C
HERC1	8925	genome.wustl.edu	37	15	63966589	63966589	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:63966589C>G	ENST00000443617.2	-	38	7885	c.7798G>C	c.(7798-7800)Gtg>Ctg	p.V2600L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2600					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCATGAACCACTAATTTATAG	0.413																																						dbGAP											0													54.0	54.0	54.0					15																	63966589		1867	4106	5973	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7798G>C	15.37:g.63966589C>G	ENSP00000390158:p.Val2600Leu		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.V2600L	ENST00000443617.2	37	c.7798	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996154	0.93167	.	.	ENSG00000103657	ENST00000443617	T	0.24908	1.83	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	T	0.20861	0.0502	N	0.24115	0.695	0.80722	D	1	P	0.36027	0.533	B	0.31946	0.138	T	0.02026	-1.1227	10	0.42905	T	0.14	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	2600	Q15751	HERC1_HUMAN	L	2600	ENSP00000390158:V2600L	ENSP00000390158:V2600L	V	-	1	0	HERC1	61753642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.775000	0.95449	0.650000	0.86243	GTG	HERC1	-	NULL	ENSG00000103657		0.413	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	45	0.00	0	C	NM_003922		63966589	63966589	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	26	58.06	36	SNP	1.000	G
HERC1	8925	genome.wustl.edu	37	15	64040012	64040012	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:64040012C>G	ENST00000443617.2	-	11	2352	c.2265G>C	c.(2263-2265)gaG>gaC	p.E755D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	755					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGAAGGTACTCTCTTCAAGAT	0.363																																						dbGAP											0													62.0	66.0	65.0					15																	64040012		1643	3432	5075	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2265G>C	15.37:g.64040012C>G	ENSP00000390158:p.Glu755Asp		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.E755D	ENST00000443617.2	37	c.2265	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928355	0.73327	.	.	ENSG00000103657	ENST00000443617	T	0.30448	1.53	5.54	3.67	0.42095	.	0.000000	0.64402	U	0.000001	T	0.47525	0.1450	M	0.65498	2.005	0.47819	D	0.999529	D	0.76494	0.999	D	0.73380	0.98	T	0.38351	-0.9665	10	0.51188	T	0.08	.	6.8299	0.23905	0.0:0.6117:0.0:0.3883	.	755	Q15751	HERC1_HUMAN	D	755	ENSP00000390158:E755D	ENSP00000390158:E755D	E	-	3	2	HERC1	61827065	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.926000	0.28804	0.714000	0.32081	0.484000	0.47621	GAG	HERC1	-	NULL	ENSG00000103657		0.363	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	36	0.00	0	C	NM_003922		64040012	64040012	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	32	56.16	41	SNP	1.000	G
HHLA1	10086	genome.wustl.edu	37	8	133088357	133088357	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:133088357C>G	ENST00000414222.1	-	13	1259	c.1260G>C	c.(1258-1260)tgG>tgC	p.W420C	HHLA1_ENST00000434736.2_Missense_Mutation_p.W456C|OC90_ENST00000262283.5_Missense_Mutation_p.W162C	NM_001145095.1	NP_001138567.1	C9JL84	HHLA1_HUMAN	HERV-H LTR-associating 1	420						extracellular region (GO:0005576)				endometrium(6)|kidney(1)|lung(2)|skin(1)|stomach(2)	12						CAGTGAATGGCCACTCTGCAG	0.453																																						dbGAP											0													118.0	110.0	112.0					8																	133088357		692	1591	2283	-	-	-	SO:0001583	missense	0			AF110315		8q24	2011-03-01			ENSG00000132297	ENSG00000132297			4904	protein-coding gene	gene with protein product		604109		PLA2L		10329003	Standard	NM_001145095		Approved		uc011liy.1	C9JL84	OTTHUMG00000140390	ENST00000414222.1:c.1260G>C	8.37:g.133088357C>G	ENSP00000388322:p.Trp420Cys			Missense_Mutation	SNP	NULL	p.W420C	ENST00000414222.1	37	c.1260		8	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477386	0.44044	.	.	ENSG00000258417;ENSG00000132297;ENSG00000132297	ENST00000262283;ENST00000414222;ENST00000434736	T	0.35421	1.31	4.1	3.2	0.36748	.	.	.	.	.	T	0.44222	0.1283	L	0.32530	0.975	0.39199	D	0.963117	D;D	0.89917	1.0;1.0	D;D	0.76071	0.967;0.987	T	0.34750	-0.9816	9	0.38643	T	0.18	0.0344	9.7854	0.40673	0.0:0.7903:0.2097:0.0	.	420;277	C9JL84;C9JL84-2	HHLA1_HUMAN;.	C	162;420;456	ENSP00000262283:W162C	ENSP00000388322:W420C	W	-	3	0	RP11-240B13.2;HHLA1	133157539	0.165000	0.22948	0.742000	0.31022	0.386000	0.30323	1.692000	0.37731	1.277000	0.44412	0.563000	0.77884	TGG	HHLA1	-	NULL	ENSG00000132297		0.453	HHLA1-201	KNOWN	basic|appris_principal	protein_coding	HHLA1	HGNC	protein_coding		26	0.00	0	C	XR_017860		133088357	133088357	-1	no_errors	ENST00000414222	ensembl	human	known	69_37n	missense	43	48.19	40	SNP	0.745	G
HIST1H4D	8360	genome.wustl.edu	37	6	26189187	26189187	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:26189187G>A	ENST00000340756.2	-	1	117	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	40					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)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CCGCCGCGGCGAGCCAGGCGG	0.557																																						dbGAP											0													37.0	43.0	41.0					6																	26189187		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.118C>T	6.37:g.26189187G>A	ENSP00000343282:p.Arg40Cys		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.R40C	ENST00000340756.2	37	c.118	CCDS4589.1	6	.	.	.	.	.	.	.	.	.	.	.	17.13	3.310295	0.60414	.	.	ENSG00000188987	ENST00000340756	T	0.77750	-1.12	5.32	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.80768	0.4686	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	D	0.83531	0.0091	7	0.66056	D	0.02	.	14.3555	0.66735	0.0:0.0:0.8507:0.1493	.	.	.	.	C	40	ENSP00000343282:R40C	ENSP00000343282:R40C	R	-	1	0	HIST1H4D	26297166	1.000000	0.71417	0.355000	0.25773	0.027000	0.11550	7.536000	0.82023	1.225000	0.43566	0.650000	0.86243	CGC	HIST1H4D	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000188987		0.557	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4D	HGNC	protein_coding	OTTHUMT00000040085.1	41	0.00	0	G	NM_003539		26189187	26189187	-1	no_errors	ENST00000340756	ensembl	human	known	69_37n	missense	31	50.79	32	SNP	1.000	A
HK1	3098	genome.wustl.edu	37	10	71158402	71158402	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:71158402G>C	ENST00000359426.6	+	17	2531	c.2427G>C	c.(2425-2427)ctG>ctC	p.L809L	HK1_ENST00000298649.3_Silent_p.L808L|HK1_ENST00000448642.2_Silent_p.L844L|HK1_ENST00000360289.2_Silent_p.L797L|HK1_ENST00000404387.2_Silent_p.L813L	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	809	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AGCTAGGTCTGAATAGCACCT	0.612																																						dbGAP											0													63.0	54.0	57.0					10																	71158402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2427G>C	10.37:g.71158402G>C			E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.L844	ENST00000359426.6	37	c.2532	CCDS7292.1	10																																																																																			HK1	-	pfam_Hexokinase_C	ENSG00000156515		0.612	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK1	HGNC	protein_coding	OTTHUMT00000048429.2	68	0.00	0	G	NM_000188		71158402	71158402	+1	no_errors	ENST00000448642	ensembl	human	known	69_37n	silent	20	37.50	12	SNP	0.997	C
ZNRD1-AS1	80862	genome.wustl.edu	37	6	29974803	29974803	+	RNA	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:29974803G>A	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		CTGACCGAGTGAACCTGCGGA	0.667																																						dbGAP											0																																										-	-	-			0			AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29974803G>A				RNA	SNP	-	NULL	ENST00000376797.3	37	NULL		6																																																																																			HLA-J	-	-	ENSG00000204622		0.667	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	HLA-J	HGNC	antisense	OTTHUMT00000253083.1	134	0.00	0	G	NR_026751		29974803	29974803	+1	no_errors	ENST00000462773	ensembl	human	known	69_37n	rna	73	39.17	47	SNP	0.021	A
HLA-DQA2	3118	genome.wustl.edu	37	6	32712977	32712977	+	Missense_Mutation	SNP	C	C	T	rs200745258		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:32712977C>T	ENST00000374940.3	+	2	226	c.124C>T	c.(124-126)Cac>Tac	p.H42Y		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	42	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)|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)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CTACCAGTCTCACGGTCCCTC	0.502																																						dbGAP											0													201.0	197.0	198.0					6																	32712977		1511	2709	4220	-	-	-	SO:0001583	missense	0				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.124C>T	6.37:g.32712977C>T	ENSP00000364076:p.His42Tyr		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.H42Y	ENST00000374940.3	37	c.124	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.971578	0.00048	.	.	ENSG00000237541	ENST00000374940	T	0.00664	5.92	3.16	0.282	0.15692	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.519966	0.16053	N	0.231889	T	0.00039	0.0001	N	0.00114	-2.085	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.10989	-1.0606	10	0.02654	T	1	.	5.3943	0.16261	0.0:0.2678:0.0:0.7322	rs1129749	42	P01906	DQA2_HUMAN	Y	42	ENSP00000364076:H42Y	ENSP00000364076:H42Y	H	+	1	0	HLA-DQA2	32820955	0.001000	0.12720	0.346000	0.25655	0.009000	0.06853	-0.549000	0.06041	-0.012000	0.14223	-0.820000	0.03113	CAC	HLA-DQA2	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N	ENSG00000237541		0.502	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	14	0.00	0	C	NM_020056		32712977	32712977	+1	no_errors	ENST00000374940	ensembl	human	known	69_37n	missense	34	30.61	15	SNP	0.484	T
HMG20A	10363	genome.wustl.edu	37	15	77769896	77769896	+	Splice_Site	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:77769896G>C	ENST00000381714.3	+	8	1043		c.e8-1		HMG20A_ENST00000336216.4_Splice_Site	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A						chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTGATTCACAGAAAGAAACAG	0.318																																						dbGAP											0													68.0	67.0	68.0					15																	77769896		2196	4294	6490	-	-	-	SO:0001630	splice_region_variant	0			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.616-1G>C	15.37:g.77769896G>C			A6NHY3|D3DW78|Q53G31|Q9NSF6	Splice_Site	SNP	-	e6-1	ENST00000381714.3	37	c.616-1	CCDS10295.1	15	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343441	0.82022	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMG20A	75556951	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.758000	0.94735	0.563000	0.77884	.	HMG20A	-	-	ENSG00000140382		0.318	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20A	HGNC	protein_coding	OTTHUMT00000419512.2	54	0.00	0	G	NM_018200	Intron	77769896	77769896	+1	no_errors	ENST00000336216	ensembl	human	known	69_37n	splice_site	94	30.88	42	SNP	1.000	C
HMGCLL1	54511	genome.wustl.edu	37	6	55441935	55441935	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:55441935G>C	ENST00000398661.2	-	2	270	c.139C>G	c.(139-141)Cag>Gag	p.Q47E	HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000358072.5_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Intron|HMGCLL1_ENST00000428842.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	47					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			acatcgggctgaaagcagtga	0.448																																					Ovarian(35;840 893 7837 15538 42887)	dbGAP											0													43.0	46.0	45.0					6																	55441935		1909	4136	6045	-	-	-	SO:0001583	missense	0			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.139C>G	6.37:g.55441935G>C	ENSP00000381654:p.Gln47Glu		B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	pfam_PYR_CT,pfscan_PYR_CT	p.Q47E	ENST00000398661.2	37	c.139	CCDS43475.1	6	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.047083	0.00398	.	.	ENSG00000146151	ENST00000398661	D	0.97731	-4.51	2.9	-5.37	0.02681	.	.	.	.	.	T	0.75295	0.3830	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.76751	-0.2844	9	0.02654	T	1	.	1.3387	0.02150	0.154:0.2931:0.3403:0.2125	.	47	Q8TB92	HMGC2_HUMAN	E	47	ENSP00000381654:Q47E	ENSP00000381654:Q47E	Q	-	1	0	HMGCLL1	55549894	0.008000	0.16893	0.000000	0.03702	0.004000	0.04260	-0.654000	0.05354	-1.259000	0.02468	-1.098000	0.02139	CAG	HMGCLL1	-	NULL	ENSG00000146151		0.448	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	HMGCLL1	HGNC	protein_coding	OTTHUMT00000360290.1	29	0.00	0	G	XM_166383		55441935	55441935	-1	no_errors	ENST00000398661	ensembl	human	known	69_37n	missense	22	42.11	16	SNP	0.000	C
HMGCR	3156	genome.wustl.edu	37	5	74650360	74650360	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:74650360C>T	ENST00000287936.4	+	12	1557	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	HMGCR_ENST00000511206.1_Silent_p.I467I|HMGCR_ENST00000343975.5_Silent_p.I467I	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	467	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	ATGCTGAGATCATCCAGTTAG	0.403																																						dbGAP											0													110.0	94.0	99.0					5																	74650360		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1401C>T	5.37:g.74650360C>T			B7Z3Y9|Q8N190	Silent	SNP	pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc	p.I467	ENST00000287936.4	37	c.1401	CCDS4027.1	5																																																																																			HMGCR	-	superfamily_HMG_CoA_Rdtase_sub-bd,pfscan_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc	ENSG00000113161		0.403	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCR	HGNC	protein_coding	OTTHUMT00000219877.2	48	0.00	0	C			74650360	74650360	+1	no_errors	ENST00000287936	ensembl	human	known	69_37n	silent	19	56.82	25	SNP	1.000	T
HNRNPH3	3189	genome.wustl.edu	37	10	70098408	70098408	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:70098408G>A	ENST00000265866.7	+	4	565	c.400G>A	c.(400-402)Gac>Aac	p.D134N	HNRNPH3_ENST00000441000.2_Intron|HNRNPH3_ENST00000354695.5_Intron|HNRNPH3_ENST00000469172.1_3'UTR	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	134	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						AAGTATGTATGACAGAATGCG	0.448																																						dbGAP											0													245.0	242.0	243.0					10																	70098408		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.400G>A	10.37:g.70098408G>A	ENSP00000265866:p.Asp134Asn		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D134N	ENST00000265866.7	37	c.400	CCDS7278.1	10	.	.	.	.	.	.	.	.	.	.	G	15.48	2.844845	0.51164	.	.	ENSG00000096746	ENST00000265866	T	0.10860	2.83	6.06	6.06	0.98353	.	0.246656	0.45126	D	0.000395	T	0.30792	0.0776	L	0.61218	1.895	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.00542	-1.1680	10	0.18276	T	0.48	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	134	P31942	HNRH3_HUMAN	N	134	ENSP00000265866:D134N	ENSP00000265866:D134N	D	+	1	0	HNRNPH3	69768414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.394000	0.59671	2.880000	0.98712	0.650000	0.86243	GAC	HNRNPH3	-	NULL	ENSG00000096746		0.448	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH3	HGNC	protein_coding	OTTHUMT00000090165.1	133	0.00	0	G			70098408	70098408	+1	no_errors	ENST00000265866	ensembl	human	known	69_37n	missense	134	35.58	74	SNP	1.000	A
HORMAD1	84072	genome.wustl.edu	37	1	150679148	150679148	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:150679148C>G	ENST00000361824.2	-	10	790	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	HORMAD1_ENST00000322343.7_Missense_Mutation_p.E222Q|HORMAD1_ENST00000368993.2_Missense_Mutation_p.E229Q|HORMAD1_ENST00000368995.4_Missense_Mutation_p.E149Q	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	229					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CGTTCTCTCTCAGTGGTCACT	0.348																																						dbGAP											0													185.0	177.0	179.0					1																	150679148		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.685G>C	1.37:g.150679148C>G	ENSP00000355167:p.Glu229Gln		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.E229Q	ENST00000361824.2	37	c.685	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567307	0.86439	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987;ENST00000442853	T;T;T;T	0.50548	0.74;1.35;1.34;1.35	5.72	4.8	0.61643	DNA-binding HORMA (2);	0.250759	0.45867	D	0.000330	T	0.43211	0.1237	L	0.36672	1.1	0.46044	D	0.998839	D;D;D	0.76494	0.999;0.997;0.996	D;P;D	0.71656	0.974;0.883;0.917	T	0.13282	-1.0515	10	0.16420	T	0.52	-10.8438	12.8759	0.57989	0.0:0.9213:0.0:0.0787	.	149;222;229	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	Q	149;229;158;149;222;229;158;151	ENSP00000357991:E149Q;ENSP00000357989:E229Q;ENSP00000326489:E222Q;ENSP00000355167:E229Q	ENSP00000326489:E222Q	E	-	1	0	HORMAD1	148945772	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.308000	0.59129	2.704000	0.92352	0.467000	0.42956	GAG	HORMAD1	-	superfamily_HORMA_DNA-bd	ENSG00000143452		0.348	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	225	0.00	0	C	NM_032132		150679148	150679148	-1	no_errors	ENST00000361824	ensembl	human	known	69_37n	missense	366	29.75	155	SNP	1.000	G
HOXB9	3219	genome.wustl.edu	37	17	46700309	46700309	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:46700309G>A	ENST00000311177.5	-	2	913	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_3'UTR	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	236					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R236W(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TTCATCCGCCGGTTCTGAAAC	0.463																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											158.0	161.0	160.0					17																	46700309		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.706C>T	17.37:g.46700309G>A	ENSP00000309439:p.Arg236Trp		B2RDB7|Q9H1I1	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R236W	ENST00000311177.5	37	c.706	CCDS11534.1	17	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945018	0.92593	.	.	ENSG00000170689	ENST00000311177	D	0.97831	-4.56	5.87	5.87	0.94306	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.99315	0.9760	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98655	1.0681	10	0.87932	D	0	.	20.2079	0.98282	0.0:0.0:1.0:0.0	.	236	P17482	HXB9_HUMAN	W	236	ENSP00000309439:R236W	ENSP00000309439:R236W	R	-	1	2	HOXB9	44055308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.671000	0.61590	2.781000	0.95711	0.655000	0.94253	CGG	HOXB9	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa	ENSG00000170689		0.463	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB9	HGNC	protein_coding	OTTHUMT00000358101.2	280	0.36	1	G			46700309	46700309	-1	no_errors	ENST00000311177	ensembl	human	known	69_37n	missense	1379	15.29	249	SNP	1.000	A
HOXD10	3236	genome.wustl.edu	37	2	176981648	176981648	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:176981648C>T	ENST00000249501.4	+	1	342	c.87C>T	c.(85-87)tcC>tcT	p.S29S	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	29					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTTTTTATTCCAGCAGCGCCA	0.488																																						dbGAP											0													109.0	117.0	114.0					2																	176981648		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.87C>T	2.37:g.176981648C>T			Q6NT10	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.S29	ENST00000249501.4	37	c.87	CCDS2266.1	2																																																																																			HOXD10	-	NULL	ENSG00000128710		0.488	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	HGNC	protein_coding	OTTHUMT00000255692.2	42	0.00	0	C			176981648	176981648	+1	no_errors	ENST00000249501	ensembl	human	known	69_37n	silent	53	25.00	18	SNP	1.000	T
HSPA4L	22824	genome.wustl.edu	37	4	128725013	128725013	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:128725013C>T	ENST00000296464.4	+	7	1304	c.893C>T	c.(892-894)tCt>tTt	p.S298F	HSPA4L_ENST00000439123.2_Missense_Mutation_p.S329F|HSPA4L_ENST00000505726.1_Missense_Mutation_p.S272F|HSPA4L_ENST00000508776.1_Missense_Mutation_p.S298F	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	298					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTTGATGTTTCTAGTAAAATG	0.308																																						dbGAP											0													58.0	61.0	60.0					4																	128725013		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.893C>T	4.37:g.128725013C>T	ENSP00000296464:p.Ser298Phe		A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.S329F	ENST00000296464.4	37	c.986	CCDS3734.1	4	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895714	0.72639	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01106	5.33;5.33;5.33;5.33;5.33	4.76	4.76	0.60689	.	0.287008	0.34268	N	0.004115	T	0.05502	0.0145	M	0.70595	2.14	0.52099	D	0.999946	P;P;P	0.50528	0.936;0.81;0.81	P;B;B	0.59889	0.865;0.343;0.343	T	0.47100	-0.9143	10	0.37606	T	0.19	.	17.9596	0.89081	0.0:1.0:0.0:0.0	.	272;298;298	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	F	298;329;298;257;272	ENSP00000422482:S298F;ENSP00000393926:S329F;ENSP00000296464:S298F;ENSP00000427305:S257F;ENSP00000425645:S272F	ENSP00000296464:S298F	S	+	2	0	HSPA4L	128944463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.138000	0.64795	2.488000	0.83962	0.585000	0.79938	TCT	HSPA4L	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000164070		0.308	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4L	HGNC	protein_coding	OTTHUMT00000257096.3	51	0.00	0	C	NM_014278		128725013	128725013	+1	no_errors	ENST00000439123	ensembl	human	known	69_37n	missense	54	28.95	22	SNP	1.000	T
HSPA5	3309	genome.wustl.edu	37	9	127999296	127999296	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:127999296C>G	ENST00000324460.6	-	8	1743	c.1540G>C	c.(1540-1542)Gaa>Caa	p.E514Q		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	514					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CCCTTGTCTTCAGCTGTCACT	0.438										Prostate(1;0.17)																												dbGAP											0													148.0	147.0	147.0					9																	127999296		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1540G>C	9.37:g.127999296C>G	ENSP00000324173:p.Glu514Gln		B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E514Q	ENST00000324460.6	37	c.1540	CCDS6863.1	9	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269689	0.80469	.	.	ENSG00000044574	ENST00000324460	T	0.01015	5.44	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.02888	0.0086	N	0.26162	0.8	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.67162	-0.5740	10	0.56958	D	0.05	-8.2595	17.816	0.88634	0.0:1.0:0.0:0.0	.	514	P11021	GRP78_HUMAN	Q	514	ENSP00000324173:E514Q	ENSP00000324173:E514Q	E	-	1	0	HSPA5	127039117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.449000	0.82847	0.585000	0.79938	GAA	HSPA5	-	pfam_Hsp_70_fam	ENSG00000044574		0.438	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA5	HGNC	protein_coding	OTTHUMT00000054062.1	104	0.00	0	C			127999296	127999296	-1	no_errors	ENST00000324460	ensembl	human	known	69_37n	missense	117	40.91	81	SNP	1.000	G
HSPD1	3329	genome.wustl.edu	37	2	198358179	198358179	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:198358179C>T	ENST00000388968.3	-	7	1005	c.738G>A	c.(736-738)ttG>ttA	p.L246L	HSPD1_ENST00000345042.2_Silent_p.L246L	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	246					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCTTTTCACTCAACAGAACAT	0.338																																						dbGAP											0													52.0	53.0	52.0					2																	198358179		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.738G>A	2.37:g.198358179C>T			B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60	p.L246	ENST00000388968.3	37	c.738	CCDS33357.1	2																																																																																			HSPD1	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60	ENSG00000144381		0.338	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPD1	HGNC	protein_coding	OTTHUMT00000335324.2	10	0.00	0	C	NM_002156		198358179	198358179	-1	no_errors	ENST00000345042	ensembl	human	known	69_37n	silent	45	30.77	20	SNP	0.502	T
HTATIP2	10553	genome.wustl.edu	37	11	20398235	20398235	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:20398235C>G	ENST00000451739.2	+	3	854	c.413C>G	c.(412-414)tCa>tGa	p.S138*	HTATIP2_ENST00000443524.2_Nonsense_Mutation_p.S138*|HTATIP2_ENST00000421577.2_Nonsense_Mutation_p.S138*|HTATIP2_ENST00000531058.1_Intron|HTATIP2_ENST00000419348.2_Nonsense_Mutation_p.S172*	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGATAAATCAAGCAATTTT	0.378																																						dbGAP											0													94.0	96.0	96.0					11																	20398235		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.413C>G	11.37:g.20398235C>G	ENSP00000394259:p.Ser138*			Nonsense_Mutation	SNP	pfam_Semialdehyde_DH_NAD-bd	p.S172*	ENST00000451739.2	37	c.515	CCDS7852.1	11	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319024	0.81469	.	.	ENSG00000109854	ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739	.	.	.	5.8	4.88	0.63580	.	0.376195	0.28921	N	0.013716	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-19.5263	7.4905	0.27458	0.0:0.745:0.1688:0.0862	.	.	.	.	X	138;138;172;138	.	ENSP00000392985:S172X	S	+	2	0	HTATIP2	20354811	0.004000	0.15560	0.982000	0.44146	0.435000	0.31806	0.606000	0.24194	2.729000	0.93468	0.561000	0.74099	TCA	HTATIP2	-	NULL	ENSG00000109854		0.378	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATIP2	HGNC	protein_coding	OTTHUMT00000387445.2	86	0.00	0	C	NM_001098521		20398235	20398235	+1	no_errors	ENST00000419348	ensembl	human	known	69_37n	nonsense	86	45.96	74	SNP	0.937	G
HTR1D	3352	genome.wustl.edu	37	1	23519904	23519904	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:23519904G>C	ENST00000374619.1	-	1	1318	c.809C>G	c.(808-810)tCc>tGc	p.S270C	HTR1D_ENST00000314113.3_Missense_Mutation_p.S270C	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	270					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AAAGAGAGGGGAGCCAGCCGA	0.572																																						dbGAP											0													62.0	68.0	66.0					1																	23519904		2203	4300	6503	-	-	-	SO:0001583	missense	0			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.809C>G	1.37:g.23519904G>C	ENSP00000363748:p.Ser270Cys			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.S270C	ENST00000374619.1	37	c.809	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598111	0.66332	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.70986	-0.53;-0.53	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.117271	0.64402	D	0.000012	D	0.83408	0.5248	M	0.75615	2.305	0.44485	D	0.997425	D	0.59767	0.986	D	0.65987	0.94	D	0.84731	0.0745	10	0.59425	D	0.04	.	18.0569	0.89366	0.0:0.0:1.0:0.0	.	270	P28221	5HT1D_HUMAN	C	270	ENSP00000313661:S270C;ENSP00000363748:S270C	ENSP00000313661:S270C	S	-	2	0	HTR1D	23392491	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.736000	0.74811	2.522000	0.85027	0.655000	0.94253	TCC	HTR1D	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000179546		0.572	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	41	0.00	0	G	NM_000864		23519904	23519904	-1	no_errors	ENST00000314113	ensembl	human	known	69_37n	missense	6	72.73	16	SNP	1.000	C
HTR3A	3359	genome.wustl.edu	37	11	113857358	113857358	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:113857358C>T	ENST00000504030.2	+	7	1269	c.824C>T	c.(823-825)tCt>tTt	p.S275F	HTR3A_ENST00000299961.5_Missense_Mutation_p.S260F|HTR3A_ENST00000355556.2_Missense_Mutation_p.S281F|HTR3A_ENST00000535865.1_Missense_Mutation_p.S19F|HTR3A_ENST00000506841.2_Missense_Mutation_p.S275F|HTR3A_ENST00000375498.2_Missense_Mutation_p.S281F			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	275					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GAGAGGGTCTCTTTCAAGATT	0.572																																						dbGAP											0													94.0	77.0	83.0					11																	113857358		2201	4296	6497	-	-	-	SO:0001583	missense	0			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.824C>T	11.37:g.113857358C>T	ENSP00000424189:p.Ser275Phe		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S281F	ENST00000504030.2	37	c.842		11	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770455	0.90108	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.94997	0.8381	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.97110	1.0;0.947;1.0	D	0.96045	0.9027	10	0.87932	D	0	-41.868	18.4412	0.90667	0.0:1.0:0.0:0.0	.	260;281;281	B4DSY6;G5E986;Q7KZM7	.;.;.	F	275;281;281;275;19;260	ENSP00000424189:S275F;ENSP00000347754:S281F;ENSP00000364648:S281F;ENSP00000424776:S275F;ENSP00000437776:S19F;ENSP00000299961:S260F	ENSP00000299961:S260F	S	+	2	0	HTR3A	113362568	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.776000	0.85560	2.421000	0.82119	0.561000	0.74099	TCT	HTR3A	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000166736		0.572	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	HTR3A	HGNC	protein_coding	OTTHUMT00000360822.2	89	0.00	0	C	NM_000869		113857358	113857358	+1	no_errors	ENST00000355556	ensembl	human	known	69_37n	missense	11	72.50	29	SNP	1.000	T
HUS1B	135458	genome.wustl.edu	37	6	656149	656149	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:656149G>C	ENST00000380907.2	-	1	814	c.796C>G	c.(796-798)Caa>Gaa	p.Q266E	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	266					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		ACATCTTCTTGAACCAAAACA	0.378																																						dbGAP											0													92.0	100.0	97.0					6																	656149		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.796C>G	6.37:g.656149G>C	ENSP00000370293:p.Gln266Glu		Q5T4Z2	Missense_Mutation	SNP	pfam_Hus1,pirsf_Cell_cycle_HUS1	p.Q266E	ENST00000380907.2	37	c.796	CCDS4470.1	6	.	.	.	.	.	.	.	.	.	.	G	8.388	0.839131	0.16891	.	.	ENSG00000188996	ENST00000380907	T	0.11063	2.81	3.79	2.87	0.33458	.	0.200906	0.41823	U	0.000816	T	0.01627	0.0052	L	0.29908	0.895	0.20489	N	0.999895	B	0.20052	0.041	B	0.17433	0.018	T	0.47262	-0.9131	10	0.02654	T	1	.	8.3416	0.32247	0.0:0.0:0.7642:0.2358	.	266	Q8NHY5	HUS1B_HUMAN	E	266	ENSP00000370293:Q266E	ENSP00000370293:Q266E	Q	-	1	0	HUS1B	601149	1.000000	0.71417	0.199000	0.23439	0.545000	0.35147	1.806000	0.38892	0.877000	0.35895	0.655000	0.94253	CAA	HUS1B	-	pfam_Hus1,pirsf_Cell_cycle_HUS1	ENSG00000188996		0.378	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUS1B	HGNC	protein_coding	OTTHUMT00000205617.2	70	0.00	0	G	NM_148959		656149	656149	-1	no_errors	ENST00000380907	ensembl	human	known	69_37n	missense	30	43.40	23	SNP	0.940	C
HUWE1	10075	genome.wustl.edu	37	X	53575140	53575140	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:53575140G>C	ENST00000342160.3	-	67	10587	c.10130C>G	c.(10129-10131)tCa>tGa	p.S3377*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S3377*|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3377					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGAGGACTGTGAGGAGCATGG	0.512																																						dbGAP											0													72.0	47.0	55.0					X																	53575140		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10130C>G	X.37:g.53575140G>C	ENSP00000340648:p.Ser3377*		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.S3377*	ENST00000342160.3	37	c.10130	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	53	21.618725	0.99942	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	.	.	.	5.75	4.87	0.63330	.	0.762019	0.12156	N	0.494437	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	13.1923	0.59717	0.0:0.244:0.756:0.0	.	.	.	.	X	3377	.	ENSP00000262854:S3377X	S	-	2	0	HUWE1	53591865	0.971000	0.33674	1.000000	0.80357	0.881000	0.50899	1.652000	0.37313	2.437000	0.82529	0.529000	0.55759	TCA	HUWE1	-	NULL	ENSG00000086758		0.512	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	124	0.00	0	G	XM_497119		53575140	53575140	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	nonsense	36	35.71	20	SNP	0.996	C
HVCN1	84329	genome.wustl.edu	37	12	111087993	111087993	+	Missense_Mutation	SNP	C	C	G	rs554508796		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:111087993C>G	ENST00000356742.5	-	6	1489	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	HVCN1_ENST00000439744.2_Missense_Mutation_p.E226Q|HVCN1_ENST00000548312.1_Missense_Mutation_p.E246Q|HVCN1_ENST00000242607.8_Missense_Mutation_p.E246Q			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	246					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CAGCTGAACTCAAGGTGTTGA	0.473																																						dbGAP											0													184.0	154.0	164.0					12																	111087993		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.736G>C	12.37:g.111087993C>G	ENSP00000349181:p.Glu246Gln		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E246Q	ENST00000356742.5	37	c.736	CCDS31900.1	12	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825248	0.50739	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	T;T;T;T	0.50277	0.75;0.87;0.87;0.89	6.06	6.06	0.98353	.	0.149471	0.64402	D	0.000013	T	0.42268	0.1195	N	0.19112	0.55	0.34641	D	0.720628	P;P	0.51537	0.911;0.946	B;P	0.48677	0.311;0.586	T	0.51919	-0.8644	10	0.39692	T	0.17	-23.721	15.0934	0.72215	0.0:0.8589:0.1411:0.0	.	246;246	Q96D96;Q96D96-3	HVCN1_HUMAN;.	Q	246;246;246;226	ENSP00000449601:E246Q;ENSP00000242607:E246Q;ENSP00000349181:E246Q;ENSP00000412052:E226Q	ENSP00000242607:E246Q	E	-	1	0	HVCN1	109572376	0.995000	0.38212	0.942000	0.38095	0.995000	0.86356	3.313000	0.51935	2.882000	0.98803	0.655000	0.94253	GAG	HVCN1	-	NULL	ENSG00000122986		0.473	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HVCN1	HGNC	protein_coding	OTTHUMT00000404653.1	146	0.00	0	C	NM_032369		111087993	111087993	-1	no_errors	ENST00000242607	ensembl	human	known	69_37n	missense	103	39.77	68	SNP	0.988	G
IARS2	55699	genome.wustl.edu	37	1	220273922	220273922	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:220273922G>T	ENST00000302637.5	+	3	585	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	IARS2_ENST00000366922.1_Nonsense_Mutation_p.E89*	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	161					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GTTGCCCATTGAAATAAAAGT	0.348																																						dbGAP											0													59.0	66.0	64.0					1																	220273922		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.481G>T	1.37:g.220273922G>T	ENSP00000303279:p.Glu161*		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Nonsense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.E161*	ENST00000302637.5	37	c.481	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.745578	0.98937	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-36.633	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	89;161	.	ENSP00000303279:E161X	E	+	1	0	IARS2	218340545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.592000	0.82676	2.824000	0.97209	0.655000	0.94253	GAA	IARS2	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-synt	ENSG00000067704		0.348	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		30	0.00	0	G	NM_018060		220273922	220273922	+1	no_errors	ENST00000302637	ensembl	human	known	69_37n	nonsense	66	31.25	30	SNP	1.000	T
IDI1	3422	genome.wustl.edu	37	10	1088574	1088574	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:1088574C>G	ENST00000381344.3	-	4	701	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	IDI1_ENST00000491735.1_5'UTR|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	122	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		CTGGTTACCTCTTCCAAGGGA	0.423																																						dbGAP											0													103.0	93.0	96.0					10																	1088574		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.535G>C	10.37:g.1088574C>G	ENSP00000370748:p.Glu179Gln		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.E179Q	ENST00000381344.3	37	c.535	CCDS7056.1	10	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.557994	0.00910	.	.	ENSG00000067064	ENST00000381344;ENST00000427898;ENST00000429642	T	0.07800	3.16	4.5	-0.517	0.11947	.	0.220937	0.48286	N	0.000196	T	0.02380	0.0073	N	0.00788	-1.185	0.45439	D	0.998417	B	0.09022	0.002	B	0.06405	0.002	T	0.50466	-0.8825	10	0.02654	T	1	-9.1039	18.2957	0.90145	0.0:0.2239:0.7761:0.0	.	179	Q13907-2	.	Q	179;93;122	ENSP00000404771:E93Q	ENSP00000370748:E179Q	E	-	1	0	IDI1	1078574	1.000000	0.71417	0.993000	0.49108	0.031000	0.12232	3.013000	0.49582	0.074000	0.16767	-0.257000	0.10917	GAG	IDI1	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	ENSG00000067064		0.423	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI1	HGNC	protein_coding	OTTHUMT00000046409.2	41	0.00	0	C	NM_004508		1088574	1088574	-1	no_errors	ENST00000381344	ensembl	human	known	69_37n	missense	52	33.33	26	SNP	1.000	G
IFIT5	24138	genome.wustl.edu	37	10	91178390	91178390	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:91178390C>G	ENST00000371795.4	+	2	1647	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	IFIT5_ENST00000416601.1_Silent_p.L430L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	478					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TCTGTGAGCTCCGACTTTCCA	0.373																																						dbGAP											0													65.0	68.0	67.0					10																	91178390		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.1434C>G	10.37:g.91178390C>G			B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Silent	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L478	ENST00000371795.4	37	c.1434	CCDS7403.1	10																																																																																			IFIT5	-	NULL	ENSG00000152778		0.373	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT5	HGNC	protein_coding	OTTHUMT00000049303.1	30	0.00	0	C	NM_012420		91178390	91178390	+1	no_errors	ENST00000371795	ensembl	human	known	69_37n	silent	42	28.81	17	SNP	0.565	G
IFT122	55764	genome.wustl.edu	37	3	129185735	129185735	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:129185735G>A	ENST00000348417.2	+	8	643	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	IFT122_ENST00000349441.2_Intron|IFT122_ENST00000431818.2_Missense_Mutation_p.R39Q|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Missense_Mutation_p.R240Q	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	189					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTCTACAGCCGATGGGAGAGT	0.443																																						dbGAP											0													135.0	138.0	137.0					3																	129185735		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.566G>A	3.37:g.129185735G>A	ENSP00000324005:p.Arg189Gln		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R240Q	ENST00000348417.2	37	c.719	CCDS3061.1	3	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466453	0.43839	.	.	ENSG00000163913	ENST00000296266;ENST00000431818;ENST00000348417	T;T;T	0.66638	-0.01;0.22;-0.22	5.48	3.69	0.42338	WD40 repeat-like-containing domain (1);	0.381500	0.19198	N	0.120253	T	0.35248	0.0925	N	0.03608	-0.345	0.80722	D	1	B;B	0.18968	0.019;0.032	B;B	0.12837	0.002;0.008	T	0.30031	-0.9992	10	0.02654	T	1	-2.5445	8.7547	0.34639	0.175:0.0:0.825:0.0	.	189;240	Q9HBG6;G3XAB1	IF122_HUMAN;.	Q	240;39;189	ENSP00000296266:R240Q;ENSP00000410946:R39Q;ENSP00000324005:R189Q	ENSP00000296266:R240Q	R	+	2	0	IFT122	130668425	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	2.846000	0.48262	1.329000	0.45376	0.462000	0.41574	CGA	IFT122	-	superfamily_WD40_repeat_dom	ENSG00000163913		0.443	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	108	0.00	0	G	NM_018262		129185735	129185735	+1	no_errors	ENST00000296266	ensembl	human	known	69_37n	missense	67	43.22	51	SNP	0.995	A
IGF2BP2	10644	genome.wustl.edu	37	3	185542725	185542725	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:185542725C>T	ENST00000382199.2	-	1	119	c.24G>A	c.(22-24)ggG>ggA	p.G8G	IGF2BP2_ENST00000457616.2_Silent_p.G8G|IGF2BP2_ENST00000346192.3_Silent_p.G8G	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	8	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGCTCAGGTTCCCGATGTAAA	0.692																																						dbGAP											0													25.0	27.0	26.0					3																	185542725		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.24G>A	3.37:g.185542725C>T			A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.G8	ENST00000382199.2	37	c.24	CCDS3273.2	3																																																																																			IGF2BP2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000073792		0.692	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	8	0.00	0	C	NM_006548		185542725	185542725	-1	no_errors	ENST00000382199	ensembl	human	known	69_37n	silent	13	27.78	5	SNP	0.999	T
IGKV1D-43	28891	genome.wustl.edu	37	2	90249252	90249252	+	RNA	SNP	A	A	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:90249252A>C	ENST00000468879.1	+	0	389									immunoglobulin kappa variable 1D-43																		TAAGCTCTTCATCTATTATGC	0.507																																						dbGAP											0													158.0	160.0	159.0					2																	90249252		1858	4107	5965	-	-	-			0			X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249252A>C				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I70L	ENST00000468879.1	37	c.208		2																																																																																			IGKV1D-43	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000242580		0.507	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1D-43	HGNC	IG_V_gene	OTTHUMT00000323147.2	145	0.00	0	A	NG_000833		90249252	90249252	+1	no_stop_codon	ENST00000468879	ensembl	human	known	69_37n	missense	165	36.54	95	SNP	1.000	C
IL22	50616	genome.wustl.edu	37	12	68642599	68642599	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:68642599G>C	ENST00000538666.1	-	6	590	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	IL22_ENST00000328087.4_Missense_Mutation_p.L174V			Q9GZX6	IL22_HUMAN	interleukin 22	174					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		GCATTTCTCAGAGACATAAAC	0.383																																						dbGAP											0													186.0	191.0	189.0					12																	68642599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.520C>G	12.37:g.68642599G>C	ENSP00000442424:p.Leu174Val			Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core,prints_Interleukin-22,prints_Interleukin-24	p.L174V	ENST00000538666.1	37	c.520	CCDS8982.1	12	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830726	0.71258	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.52057	0.68;0.68	4.93	4.04	0.47022	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.256876	0.27518	N	0.019001	T	0.63319	0.2501	M	0.74258	2.255	0.29241	N	0.87263	D	0.63880	0.993	D	0.79108	0.992	T	0.59963	-0.7355	9	.	.	.	-12.8554	6.9862	0.24729	0.0913:0.0:0.7371:0.1715	.	174	Q9GZX6	IL22_HUMAN	V	174	ENSP00000442424:L174V;ENSP00000329384:L174V	.	L	-	1	2	IL22	66928866	0.092000	0.21681	0.489000	0.27452	0.808000	0.45660	0.379000	0.20585	1.400000	0.46741	0.561000	0.74099	CTG	IL22	-	superfamily_4_helix_cytokine-like_core,prints_Interleukin-22,prints_Interleukin-24	ENSG00000127318		0.383	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL22	HGNC	protein_coding	OTTHUMT00000402318.1	248	0.00	0	G	NM_020525		68642599	68642599	-1	no_errors	ENST00000328087	ensembl	human	known	69_37n	missense	85	42.57	63	SNP	0.449	C
ILF3	3609	genome.wustl.edu	37	19	10791989	10791989	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:10791989G>C	ENST00000590261.1	+	10	1164	c.1164G>C	c.(1162-1164)aaG>aaC	p.K388N	ILF3_ENST00000318511.3_Missense_Mutation_p.K388N|ILF3_ENST00000420083.1_Missense_Mutation_p.K388N|ILF3_ENST00000589998.1_Missense_Mutation_p.K388N|ILF3_ENST00000592763.1_Missense_Mutation_p.K388N|ILF3_ENST00000407004.3_Missense_Mutation_p.K388N|ILF3_ENST00000250241.8_Missense_Mutation_p.K388N|ILF3_ENST00000449870.1_Missense_Mutation_p.K388N|ILF3_ENST00000588657.1_Missense_Mutation_p.K388N			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	388	Poly-Lys.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AAAAGAAGAAGAAGATTCAGA	0.567																																						dbGAP											0													66.0	72.0	70.0					19																	10791989		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1164G>C	19.37:g.10791989G>C	ENSP00000468156:p.Lys388Asn		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.K388N	ENST00000590261.1	37	c.1164	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297981	0.60086	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.17528	2.27;2.28;2.33;2.31;2.33	5.95	4.92	0.64577	.	0.106420	0.64402	D	0.000017	T	0.30198	0.0757	L	0.29908	0.895	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.993;0.998;1.0	D;D;D;P;D;D	0.85130	0.994;0.997;0.991;0.865;0.943;0.996	T	0.04976	-1.0914	10	0.66056	D	0.02	.	14.0795	0.64912	0.073:0.0:0.927:0.0	.	388;388;388;388;388;388	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	N	388	ENSP00000404121:K388N;ENSP00000315205:K388N;ENSP00000405436:K388N;ENSP00000384660:K388N;ENSP00000250241:K388N	ENSP00000250241:K388N	K	+	3	2	ILF3	10652989	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.098000	0.50259	1.532000	0.49169	0.655000	0.94253	AAG	ILF3	-	NULL	ENSG00000129351		0.567	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	24	0.00	0	G			10791989	10791989	+1	no_errors	ENST00000449870	ensembl	human	known	69_37n	missense	24	51.02	25	SNP	1.000	C
ING1	3621	genome.wustl.edu	37	13	111372216	111372216	+	Silent	SNP	G	G	A	rs138833737		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr13:111372216G>A	ENST00000375774.3	+	2	1668	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	ING1_ENST00000333219.7_Silent_p.E259E|ING1_ENST00000375775.3_Silent_p.E190E|ING1_ENST00000338450.7_Silent_p.E215E	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	402					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCCGGGGGGAGAACGAGAAGA	0.542																																						dbGAP											0													40.0	38.0	38.0					13																	111372216		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.1206G>A	13.37:g.111372216G>A			O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E402	ENST00000375774.3	37	c.1206	CCDS9517.1	13																																																																																			ING1	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger	ENSG00000153487		0.542	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	HGNC	protein_coding	OTTHUMT00000045770.2	25	0.00	0	G	NM_005537		111372216	111372216	+1	no_errors	ENST00000375774	ensembl	human	known	69_37n	silent	4	75.00	12	SNP	0.956	A
INPP5D	3635	genome.wustl.edu	37	2	233986823	233986823	+	Nonsense_Mutation	SNP	G	G	T	rs369614981		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:233986823G>T	ENST00000359570.5	+	3	205	c.205G>T	c.(205-207)Gaa>Taa	p.E69*	INPP5D_ENST00000538935.1_Nonsense_Mutation_p.E69*|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	69	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.E69K(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCAGGCATCCGAAGGCGTCTC	0.522																																					NSCLC(82;1215 1426 16163 20348 41018)	dbGAP											1	Substitution - Missense(1)	ovary(1)											105.0	108.0	107.0					2																	233986823		2082	4207	6289	-	-	-	SO:0001587	stop_gained	0			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.205G>T	2.37:g.233986823G>T	ENSP00000352575:p.Glu69*		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,prints_SH2,pfscan_SH2	p.E69*	ENST00000359570.5	37	c.205		2	.	.	.	.	.	.	.	.	.	.	g	21.2	4.119330	0.77323	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	.	.	.	5.52	5.52	0.82312	.	0.103067	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.4165	0.83743	0.0:0.0:1.0:0.0	.	.	.	.	X	69	.	ENSP00000352575:E69X	E	+	1	0	INPP5D	233695067	1.000000	0.71417	0.965000	0.40720	0.099000	0.18886	7.532000	0.81985	2.593000	0.87608	0.645000	0.84053	GAA	INPP5D	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000168918		0.522	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		26	0.00	0	G	NM_001017915		233986823	233986823	+1	no_errors	ENST00000359570	ensembl	human	known	69_37n	nonsense	14	61.11	22	SNP	0.997	T
INSC	387755	genome.wustl.edu	37	11	15212255	15212255	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:15212255G>A	ENST00000379554.3	+	6	775	c.729G>A	c.(727-729)gtG>gtA	p.V243V	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Silent_p.V196V|INSC_ENST00000379556.3_Silent_p.V196V|INSC_ENST00000528567.1_Silent_p.V196V|INSC_ENST00000525218.1_Silent_p.V196V|INSC_ENST00000530161.1_Silent_p.V196V	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	243					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGCACTGGTGAGAAAAATTG	0.512																																						dbGAP											0													136.0	143.0	141.0					11																	15212255		1970	4150	6120	-	-	-	SO:0001819	synonymous_variant	0			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.729G>A	11.37:g.15212255G>A			A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.V243	ENST00000379554.3	37	c.729	CCDS41621.1	11																																																																																			INSC	-	superfamily_ARM-type_fold	ENSG00000188487		0.512	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSC	HGNC	protein_coding	OTTHUMT00000386590.1	38	0.00	0	G	NM_001031853		15212255	15212255	+1	no_errors	ENST00000379554	ensembl	human	known	69_37n	silent	36	32.08	17	SNP	1.000	A
INSIG2	51141	genome.wustl.edu	37	2	118864432	118864432	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:118864432C>T	ENST00000245787.4	+	4	695	c.489C>T	c.(487-489)ttC>ttT	p.F163F	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	163					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GAATTGCCTTCTTGGCAACTG	0.393																																						dbGAP											0													305.0	287.0	293.0					2																	118864432		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.489C>T	2.37:g.118864432C>T			A8K5W8|Q8TBI8	Silent	SNP	pfam_INSIG_fam	p.F163	ENST00000245787.4	37	c.489	CCDS2122.1	2																																																																																			INSIG2	-	pfam_INSIG_fam	ENSG00000125629		0.393	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	267	0.00	0	C	NM_016133		118864432	118864432	+1	no_errors	ENST00000245787	ensembl	human	known	69_37n	silent	188	36.36	108	SNP	1.000	T
INSIG2	51141	genome.wustl.edu	37	2	118864694	118864694	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:118864694C>T	ENST00000245787.4	+	5	771	c.565C>T	c.(565-567)Cgt>Tgt	p.R189C	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	189					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						CCTCTATGTTCGTTCTTGGTT	0.363																																						dbGAP											0													152.0	145.0	148.0					2																	118864694		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.565C>T	2.37:g.118864694C>T	ENSP00000245787:p.Arg189Cys		A8K5W8|Q8TBI8	Missense_Mutation	SNP	pfam_INSIG_fam	p.R189C	ENST00000245787.4	37	c.565	CCDS2122.1	2	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256385	0.59321	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.79805	2.47	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.65623	-0.6123	9	0.45353	T	0.12	.	14.5165	0.67824	0.1464:0.8536:0.0:0.0	.	189	Q9Y5U4	INSI2_HUMAN	C	189	.	ENSP00000245787:R189C	R	+	1	0	INSIG2	118581164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.687000	0.68219	2.890000	0.99128	0.585000	0.79938	CGT	INSIG2	-	pfam_INSIG_fam	ENSG00000125629		0.363	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	116	0.00	0	C	NM_016133		118864694	118864694	+1	no_errors	ENST00000245787	ensembl	human	known	69_37n	missense	105	38.24	65	SNP	1.000	T
INVS	27130	genome.wustl.edu	37	9	103062875	103062875	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:103062875C>G	ENST00000262457.2	+	17	3302	c.3117C>G	c.(3115-3117)ctC>ctG	p.L1039L	INVS_ENST00000262456.2_Silent_p.L869L|TEX10_ENST00000477648.1_5'Flank	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	1039					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTATACATCTCCTTGAGAACA	0.358																																						dbGAP											0													85.0	79.0	81.0					9																	103062875		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.3117C>G	9.37:g.103062875C>G			A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.L1039	ENST00000262457.2	37	c.3117	CCDS6746.1	9																																																																																			INVS	-	NULL	ENSG00000119509		0.358	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	60	0.00	0	C	NM_014425		103062875	103062875	+1	no_errors	ENST00000262457	ensembl	human	known	69_37n	silent	46	39.47	30	SNP	0.967	G
IQCC	55721	genome.wustl.edu	37	1	32673500	32673500	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:32673500G>A	ENST00000291358.6	+	5	1239	c.1218G>A	c.(1216-1218)caG>caA	p.Q406Q	IQCC_ENST00000537469.1_Silent_p.Q486Q|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	406										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCAAAGGCCAGGCCCCCACTG	0.532																																						dbGAP											0													78.0	88.0	85.0					1																	32673500		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1218G>A	1.37:g.32673500G>A			F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Silent	SNP	pfscan_IQ_motif_EF-hand-BS	p.Q486	ENST00000291358.6	37	c.1458	CCDS355.1	1																																																																																			IQCC	-	NULL	ENSG00000160051		0.532	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCC	HGNC	protein_coding	OTTHUMT00000015731.3	18	0.00	0	G	NM_018134		32673500	32673500	+1	no_errors	ENST00000537469	ensembl	human	known	69_37n	silent	17	43.33	13	SNP	0.446	A
IQGAP1	8826	genome.wustl.edu	37	15	91009562	91009562	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:91009562G>A	ENST00000268182.5	+	17	2053	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L	IQGAP1_ENST00000560738.1_Silent_p.L71L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	643					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAAACACTGAGTGCCCTTC	0.443																																						dbGAP											0													148.0	122.0	131.0					15																	91009562		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1929G>A	15.37:g.91009562G>A			A7MBM3	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.L643	ENST00000268182.5	37	c.1929	CCDS10362.1	15																																																																																			IQGAP1	-	NULL	ENSG00000140575		0.443	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	71	0.00	0	G	NM_003870		91009562	91009562	+1	no_errors	ENST00000268182	ensembl	human	known	69_37n	silent	63	31.52	29	SNP	1.000	A
IQGAP1	8826	genome.wustl.edu	37	15	91016137	91016137	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:91016137G>C	ENST00000268182.5	+	19	2368	c.2244G>C	c.(2242-2244)ctG>ctC	p.L748L	IQGAP1_ENST00000560738.1_Silent_p.L176L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	748	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGAAGGCCTGATCACCAGGC	0.502																																						dbGAP											0													102.0	103.0	103.0					15																	91016137		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2244G>C	15.37:g.91016137G>C			A7MBM3	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.L748	ENST00000268182.5	37	c.2244	CCDS10362.1	15																																																																																			IQGAP1	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000140575		0.502	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	53	0.00	0	G	NM_003870		91016137	91016137	+1	no_errors	ENST00000268182	ensembl	human	known	69_37n	silent	35	25.53	12	SNP	0.997	C
IQGAP1	8826	genome.wustl.edu	37	15	91019954	91019954	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:91019954G>A	ENST00000268182.5	+	24	2968	c.2844G>A	c.(2842-2844)atG>atA	p.M948I	IQGAP1_ENST00000560738.1_Missense_Mutation_p.M376I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	948					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGTCTGATATGATGATGATAA	0.343																																						dbGAP											0													134.0	154.0	147.0					15																	91019954		2198	4298	6496	-	-	-	SO:0001583	missense	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2844G>A	15.37:g.91019954G>A	ENSP00000268182:p.Met948Ile		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.M948I	ENST00000268182.5	37	c.2844	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919512	0.73098	.	.	ENSG00000140575	ENST00000268182	T	0.02158	4.42	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.01940	0.0061	N	0.08118	0	0.80722	D	1	B	0.16396	0.017	B	0.13407	0.009	T	0.65051	-0.6262	10	0.25106	T	0.35	-33.4387	18.8458	0.92205	0.0:0.0:1.0:0.0	.	948	P46940	IQGA1_HUMAN	I	948	ENSP00000268182:M948I	ENSP00000268182:M948I	M	+	3	0	IQGAP1	88820958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.248000	0.72418	2.696000	0.92011	0.655000	0.94253	ATG	IQGAP1	-	NULL	ENSG00000140575		0.343	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	74	0.00	0	G	NM_003870		91019954	91019954	+1	no_errors	ENST00000268182	ensembl	human	known	69_37n	missense	109	27.81	42	SNP	1.000	A
IQGAP1	8826	genome.wustl.edu	37	15	91021107	91021107	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:91021107G>C	ENST00000268182.5	+	26	3439	c.3315G>C	c.(3313-3315)caG>caC	p.Q1105H	IQGAP1_ENST00000560738.1_Missense_Mutation_p.Q533H	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1105	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGGAGTCTCAGACAGGAGAGG	0.368																																						dbGAP											0													83.0	80.0	81.0					15																	91021107		2198	4298	6496	-	-	-	SO:0001583	missense	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3315G>C	15.37:g.91021107G>C	ENSP00000268182:p.Gln1105His		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.Q1105H	ENST00000268182.5	37	c.3315	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536411	0.65085	.	.	ENSG00000140575	ENST00000268182	T	0.02446	4.29	5.8	2.91	0.33838	Rho GTPase activation protein (1);Ras GTPase-activating protein (3);	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	M	0.84219	2.685	0.58432	D	0.999996	D	0.69078	0.997	D	0.64776	0.929	T	0.00458	-1.1727	10	0.72032	D	0.01	-22.8598	10.4504	0.44518	0.2732:0.0:0.7268:0.0	.	1105	P46940	IQGA1_HUMAN	H	1105	ENSP00000268182:Q1105H	ENSP00000268182:Q1105H	Q	+	3	2	IQGAP1	88822111	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.711000	0.37930	0.811000	0.34303	0.563000	0.77884	CAG	IQGAP1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000140575		0.368	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	59	0.00	0	G	NM_003870		91021107	91021107	+1	no_errors	ENST00000268182	ensembl	human	known	69_37n	missense	77	26.67	28	SNP	1.000	C
IRAK2	3656	genome.wustl.edu	37	3	10258684	10258684	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:10258684C>T	ENST00000256458.4	+	7	945	c.855C>T	c.(853-855)atC>atT	p.I285I	RNU6-814P_ENST00000410416.1_RNA	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						ACAGCTTCATCTACCCCTACA	0.562																																						dbGAP											0													176.0	143.0	154.0					3																	10258684		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.855C>T	3.37:g.10258684C>T			B4DQZ6|Q08AG6|Q5K546	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I285	ENST00000256458.4	37	c.855	CCDS33697.1	3																																																																																			IRAK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000134070		0.562	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1	102	0.00	0	C			10258684	10258684	+1	no_errors	ENST00000256458	ensembl	human	known	69_37n	silent	50	38.27	31	SNP	0.960	T
IRF6	3664	genome.wustl.edu	37	1	209964001	209964001	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:209964001C>G	ENST00000367021.3	-	7	1071	c.899G>C	c.(898-900)aGa>aCa	p.R300T	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Missense_Mutation_p.R205T	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	300					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GATCAGTCCTCTGTCCATGAC	0.547										HNSCC(57;0.16)																												dbGAP											0													110.0	89.0	96.0					1																	209964001		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.899G>C	1.37:g.209964001C>G	ENSP00000355988:p.Arg300Thr		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.R300T	ENST00000367021.3	37	c.899	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505862	0.85282	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.95588	-3.75;-3.75	6.17	5.26	0.73747	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.043673	0.85682	D	0.000000	D	0.97857	0.9296	M	0.87682	2.9	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98417	1.0575	9	.	.	.	.	15.327	0.74172	0.0:0.9337:0.0:0.0663	.	300	O14896	IRF6_HUMAN	T	300;205	ENSP00000355988:R300T;ENSP00000440532:R205T	.	R	-	2	0	IRF6	208030624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.311000	0.78958	1.620000	0.50308	0.655000	0.94253	AGA	IRF6	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000117595		0.547	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	HGNC	protein_coding	OTTHUMT00000088827.1	58	0.00	0	C	NM_006147		209964001	209964001	-1	no_errors	ENST00000367021	ensembl	human	known	69_37n	missense	37	26.00	13	SNP	1.000	G
IRF9	10379	genome.wustl.edu	37	14	24631447	24631447	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:24631447G>C	ENST00000396864.3	+	2	381	c.94G>C	c.(94-96)Gat>Cat	p.D32H	IRF9_ENST00000557894.1_Intron|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	32					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D32N(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GTGCTGGGATGATACAGCTAA	0.592																																						dbGAP											1	Substitution - Missense(1)	breast(1)											138.0	123.0	128.0					14																	24631447		2203	4300	6503	-	-	-	SO:0001583	missense	0			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.94G>C	14.37:g.24631447G>C	ENSP00000380073:p.Asp32His		D3DS61	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.D32H	ENST00000396864.3	37	c.94	CCDS9615.1	14	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093144	0.76756	.	.	ENSG00000213928	ENST00000396864	D	0.98747	-5.11	5.64	5.64	0.86602	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.077413	0.50627	U	0.000112	D	0.99039	0.9671	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99013	1.0815	10	0.56958	D	0.05	-7.4486	11.9016	0.52687	0.0806:0.0:0.9194:0.0	.	32	Q00978	IRF9_HUMAN	H	32	ENSP00000380073:D32H	ENSP00000380073:D32H	D	+	1	0	IRF9	23701287	1.000000	0.71417	0.716000	0.30569	0.699000	0.40488	4.167000	0.58209	2.664000	0.90586	0.655000	0.94253	GAT	IRF9	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom	ENSG00000213928		0.592	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	HGNC	protein_coding	OTTHUMT00000071927.2	53	0.00	0	G			24631447	24631447	+1	no_errors	ENST00000396864	ensembl	human	known	69_37n	missense	20	44.44	16	SNP	0.967	C
ISG20L2	81875	genome.wustl.edu	37	1	156697019	156697019	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:156697019C>G	ENST00000313146.6	-	1	1208	c.426G>C	c.(424-426)caG>caC	p.Q142H	ISG20L2_ENST00000472824.2_5'Flank|ISG20L2_ENST00000368219.1_Missense_Mutation_p.Q142H|RRNAD1_ENST00000368216.4_5'Flank|RRNAD1_ENST00000368218.4_5'Flank|RRNAD1_ENST00000524343.1_5'Flank	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	142					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGATTTCTTCTGGGAGCTCT	0.488											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													93.0	101.0	98.0					1																	156697019		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.426G>C	1.37:g.156697019C>G	ENSP00000323424:p.Gln142His	1780	D3DVC6|Q64KA2	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.Q142H	ENST00000313146.6	37	c.426	CCDS1153.1	1	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910806	0.17833	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.23950	1.88;1.88	1.77	1.77	0.24775	.	4.505800	0.01086	N	0.005090	T	0.07999	0.0200	N	0.24115	0.695	0.23727	N	0.99701	B	0.34147	0.438	B	0.35550	0.205	T	0.19224	-1.0312	10	0.41790	T	0.15	.	7.0367	0.24996	0.0:1.0:0.0:0.0	.	142	Q9H9L3	I20L2_HUMAN	H	142	ENSP00000323424:Q142H;ENSP00000357202:Q142H	ENSP00000323424:Q142H	Q	-	3	2	ISG20L2	154963643	0.944000	0.32072	0.252000	0.24328	0.701000	0.40568	0.628000	0.24522	1.306000	0.44926	0.655000	0.94253	CAG	ISG20L2	-	NULL	ENSG00000143319		0.488	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG20L2	HGNC	protein_coding	OTTHUMT00000098969.1	60	0.00	0	C	NM_030980		156697019	156697019	-1	no_errors	ENST00000313146	ensembl	human	known	69_37n	missense	107	27.03	40	SNP	0.853	G
ISLR2	57611	genome.wustl.edu	37	15	74425644	74425644	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:74425644C>T	ENST00000361742.3	+	4	1318	c.549C>T	c.(547-549)ttC>ttT	p.F183F	ISLR2_ENST00000435464.1_Silent_p.F183F|ISLR2_ENST00000453268.2_Silent_p.F183F|ISLR2_ENST00000419208.1_Silent_p.F183F|ISLR2_ENST00000565540.1_Silent_p.F183F|ISLR2_ENST00000565159.1_Silent_p.F183F|ISLR2_ENST00000445793.1_Silent_p.F183F|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	183	LRRCT.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						ACAATCCCTTCCACTGCGGCT	0.657																																						dbGAP											0													63.0	70.0	67.0					15																	74425644		2196	4296	6492	-	-	-	SO:0001819	synonymous_variant	0				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.549C>T	15.37:g.74425644C>T			A8K352|Q9P263	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like	p.F183	ENST00000361742.3	37	c.549	CCDS10259.1	15																																																																																			ISLR2	-	smart_Cys-rich_flank_reg_C	ENSG00000167178		0.657	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	27	0.00	0	C	NM_020851		74425644	74425644	+1	no_errors	ENST00000361742	ensembl	human	known	69_37n	silent	21	25.00	7	SNP	1.000	T
ITGA8	8516	genome.wustl.edu	37	10	15628630	15628630	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:15628630C>T	ENST00000378076.3	-	23	2678	c.2325G>A	c.(2323-2325)gtG>gtA	p.V775V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	775					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTTGCAGGCTCACAAAATTGC	0.363																																						dbGAP											0													143.0	128.0	133.0					10																	15628630		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2325G>A	10.37:g.15628630C>T			B0YJ31|Q5VX94	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V775	ENST00000378076.3	37	c.2325	CCDS31155.1	10																																																																																			ITGA8	-	pfam_Integrin_alpha-2	ENSG00000077943		0.363	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	99	0.00	0	C	NM_003638		15628630	15628630	-1	no_errors	ENST00000378076	ensembl	human	known	69_37n	silent	78	36.07	44	SNP	1.000	T
ITIH3	3699	genome.wustl.edu	37	3	52842588	52842588	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:52842588G>A	ENST00000449956.2	+	22	2570	c.2564G>A	c.(2563-2565)aGa>aAa	p.R855K	ITIH3_ENST00000416872.2_Missense_Mutation_p.R663K	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	855					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AAAGACTACAGAAAGGATGCC	0.532																																						dbGAP											0													86.0	85.0	85.0					3																	52842588		1984	4131	6115	-	-	-	SO:0001583	missense	0				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2564G>A	3.37:g.52842588G>A	ENSP00000415769:p.Arg855Lys		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R855K	ENST00000449956.2	37	c.2564	CCDS46845.1	3	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090134	0.55968	.	.	ENSG00000162267	ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.11821	2.74;2.74	5.65	5.65	0.86999	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.046700	0.85682	D	0.000000	T	0.37293	0.0998	M	0.85462	2.755	0.31840	N	0.623546	D;P	0.63046	0.992;0.661	P;P	0.62740	0.906;0.555	T	0.49204	-0.8964	10	0.36615	T	0.2	-17.0756	12.9175	0.58214	0.0:0.1629:0.8371:0.0	.	663;855	E7ET33;Q06033	.;ITIH3_HUMAN	K	850;663;855	ENSP00000413922:R663K;ENSP00000415769:R855K	ENSP00000273291:R850K	R	+	2	0	ITIH3	52817628	1.000000	0.71417	0.989000	0.46669	0.237000	0.25408	4.414000	0.59802	2.679000	0.91253	0.655000	0.94253	AGA	ITIH3	-	pfam_ITI_HC_C	ENSG00000162267		0.532	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	HGNC	protein_coding	OTTHUMT00000352668.2	61	0.00	0	G	NM_002217		52842588	52842588	+1	no_errors	ENST00000449956	ensembl	human	known	69_37n	missense	30	42.31	22	SNP	1.000	A
ITPKC	80271	genome.wustl.edu	37	19	41223287	41223287	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:41223287G>A	ENST00000263370.2	+	1	280	c.247G>A	c.(247-249)Gag>Aag	p.E83K	ADCK4_ENST00000450541.1_5'Flank|ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000243583.6_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	83					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCCGGGGACAGAGAGTCCGCA	0.716																																						dbGAP											0													14.0	18.0	17.0					19																	41223287		2194	4291	6485	-	-	-	SO:0001583	missense	0			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.247G>A	19.37:g.41223287G>A	ENSP00000263370:p.Glu83Lys		Q9UE25|Q9Y475	Missense_Mutation	SNP	pfam_IPK	p.E83K	ENST00000263370.2	37	c.247	CCDS12563.1	19	.	.	.	.	.	.	.	.	.	.	G	1.753	-0.488704	0.04352	.	.	ENSG00000086544	ENST00000263370	.	.	.	2.9	1.78	0.24846	.	2.313430	0.01987	N	0.045239	T	0.18425	0.0442	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.25012	-1.0144	9	0.05833	T	0.94	-0.999	6.2826	0.21015	0.1521:0.0:0.8479:0.0	.	83	Q96DU7	IP3KC_HUMAN	K	83	.	ENSP00000263370:E83K	E	+	1	0	ITPKC	45915127	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.578000	0.23773	0.486000	0.27676	0.484000	0.47621	GAG	ITPKC	-	NULL	ENSG00000086544		0.716	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1	14	0.00	0	G	NM_025194		41223287	41223287	+1	no_errors	ENST00000263370	ensembl	human	known	69_37n	missense	1	80.00	4	SNP	0.001	A
ITPR3	3710	genome.wustl.edu	37	6	33656491	33656491	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:33656491C>T	ENST00000374316.5	+	50	7687	c.6627C>T	c.(6625-6627)ttC>ttT	p.F2209F	ITPR3_ENST00000605930.1_Silent_p.F2209F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2209					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCATCTCCTTCAACCTGGCCG	0.607																																						dbGAP											0													140.0	107.0	118.0					6																	33656491		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6627C>T	6.37:g.33656491C>T			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.F2209	ENST00000374316.5	37	c.6627	CCDS4783.1	6																																																																																			ITPR3	-	NULL	ENSG00000096433		0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	110	0.00	0	C	NM_002224		33656491	33656491	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	silent	57	30.49	25	SNP	1.000	T
IWS1	55677	genome.wustl.edu	37	2	128244195	128244195	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:128244195G>A	ENST00000295321.4	-	13	2521	c.2262C>T	c.(2260-2262)gtC>gtT	p.V754V	AC010976.2_ENST00000595561.1_RNA|AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000598065.1_RNA|AC010976.2_ENST00000599001.1_RNA|AC010976.2_ENST00000454503.2_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	754	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AAGGCATTGGGACCCTTGCAC	0.527																																						dbGAP											0													120.0	106.0	111.0					2																	128244195		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.2262C>T	2.37:g.128244195G>A			Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.V754	ENST00000295321.4	37	c.2262	CCDS2146.1	2																																																																																			IWS1	-	NULL	ENSG00000163166		0.527	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2	175	0.00	0	G	NM_017969		128244195	128244195	-1	no_errors	ENST00000295321	ensembl	human	known	69_37n	silent	56	32.53	27	SNP	0.766	A
JMJD1C	221037	genome.wustl.edu	37	10	64958426	64958426	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:64958426C>G	ENST00000399262.2	-	12	5556	c.5338G>C	c.(5338-5340)Gat>Cat	p.D1780H	JMJD1C_ENST00000402544.1_Missense_Mutation_p.D1561H|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D1598H|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1780					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTTCATCATCATATTGGTCA	0.303																																						dbGAP											0													110.0	106.0	107.0					10																	64958426		1834	4084	5918	-	-	-	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5338G>C	10.37:g.64958426C>G	ENSP00000382204:p.Asp1780His		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.D1780H	ENST00000399262.2	37	c.5338	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444590	0.83993	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.58358	0.67;0.34;0.67	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78833	-0.2048	10	0.87932	D	0	-21.2106	19.2854	0.94067	0.0:1.0:0.0:0.0	.	1780;1598	Q15652;A0T124	JHD2C_HUMAN;.	H	1780;1561;1598	ENSP00000382204:D1780H;ENSP00000384990:D1561H;ENSP00000444682:D1598H	ENSP00000382204:D1780H	D	-	1	0	JMJD1C	64628432	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.025000	0.70864	2.624000	0.88883	0.484000	0.47621	GAT	JMJD1C	-	NULL	ENSG00000171988		0.303	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	48	0.00	0	C	NM_004241		64958426	64958426	-1	no_errors	ENST00000399262	ensembl	human	known	69_37n	missense	83	38.52	52	SNP	1.000	G
JMJD1C	221037	genome.wustl.edu	37	10	64966922	64966922	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:64966922C>T	ENST00000399262.2	-	10	4725	c.4507G>A	c.(4507-4509)Gaa>Aaa	p.E1503K	JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1284K|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1321K|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E1284K	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1503					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCATTAGGTTCAGTCTCACTG	0.403																																						dbGAP											0													118.0	112.0	114.0					10																	64966922		1892	4106	5998	-	-	-	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4507G>A	10.37:g.64966922C>T	ENSP00000382204:p.Glu1503Lys		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E1503K	ENST00000399262.2	37	c.4507	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945280	0.53079	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.55760	0.83;0.5;2.37;0.85	5.75	5.75	0.90469	.	0.324250	0.33438	N	0.004913	T	0.66963	0.2843	M	0.62723	1.935	0.48762	D	0.999707	D;P;D	0.63046	0.992;0.937;0.968	P;B;P	0.55785	0.784;0.304;0.449	T	0.68036	-0.5515	10	0.62326	D	0.03	-16.7895	19.9273	0.97107	0.0:1.0:0.0:0.0	.	1044;1503;1321	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	K	1503;1284;1284;1321	ENSP00000382204:E1503K;ENSP00000384990:E1284K;ENSP00000382195:E1284K;ENSP00000444682:E1321K	ENSP00000382195:E1284K	E	-	1	0	JMJD1C	64636928	0.997000	0.39634	1.000000	0.80357	0.743000	0.42351	3.255000	0.51484	2.718000	0.92993	0.591000	0.81541	GAA	JMJD1C	-	NULL	ENSG00000171988		0.403	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	38	0.00	0	C	NM_004241		64966922	64966922	-1	no_errors	ENST00000399262	ensembl	human	known	69_37n	missense	51	43.96	40	SNP	1.000	T
KALRN	8997	genome.wustl.edu	37	3	124165622	124165622	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:124165622A>T	ENST00000240874.3	+	21	3593	c.3436A>T	c.(3436-3438)Atc>Ttc	p.I1146F	KALRN_ENST00000360013.3_Missense_Mutation_p.I1146F|KALRN_ENST00000460856.1_Missense_Mutation_p.I1137F	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1146					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTTGACTGGATCCAAGAAAC	0.463																																						dbGAP											0													113.0	115.0	114.0					3																	124165622		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3436A>T	3.37:g.124165622A>T	ENSP00000240874:p.Ile1146Phe		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.I1146F	ENST00000240874.3	37	c.3436	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	A	27.2	4.811305	0.90707	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.42513	0.97;0.97;0.97	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.69078	0.985;0.996;0.997;0.981	P;D;D;P	0.81914	0.9;0.97;0.995;0.838	T	0.68017	-0.5520	10	0.87932	D	0	.	15.571	0.76337	1.0:0.0:0.0:0.0	.	1137;492;1146;1146	C9IZQ6;F2Z3Q6;O60229;O60229-2	.;.;KALRN_HUMAN;.	F	1137;1146;1146	ENSP00000418611:I1137F;ENSP00000240874:I1146F;ENSP00000353109:I1146F	ENSP00000240874:I1146F	I	+	1	0	KALRN	125648312	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.298000	0.78815	2.257000	0.74773	0.454000	0.30748	ATC	KALRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160145		0.463	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	90	0.00	0	A	NM_003947		124165622	124165622	+1	no_errors	ENST00000360013	ensembl	human	known	69_37n	missense	24	41.46	17	SNP	1.000	T
KAT6A	7994	genome.wustl.edu	37	8	41906162	41906162	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:41906162C>G	ENST00000396930.3	-	3	877	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	KAT6A_ENST00000265713.2_Missense_Mutation_p.E112Q|KAT6A_ENST00000406337.1_Missense_Mutation_p.E112Q|KAT6A_ENST00000485568.1_Missense_Mutation_p.E112Q	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	112	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.|Required for activation of RUNX1-1.|Required for nuclear localization.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCACCAGACTCTGCCAAGCCC	0.448																																						dbGAP											0													92.0	95.0	94.0					8																	41906162		2203	4300	6503	-	-	-	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.334G>C	8.37:g.41906162C>G	ENSP00000380136:p.Glu112Gln		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E112Q	ENST00000396930.3	37	c.334	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629056	0.46944	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000002	T	0.71160	0.3307	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	D;D	0.66716	0.909;0.946	T	0.71251	-0.4648	10	0.62326	D	0.03	-27.971	20.0782	0.97758	0.0:1.0:0.0:0.0	.	112;112	A5PLL3;Q92794	.;KAT6A_HUMAN	Q	112	ENSP00000265713:E112Q;ENSP00000385888:E112Q;ENSP00000380136:E112Q;ENSP00000430606:E112Q	ENSP00000265713:E112Q	E	-	1	0	KAT6A	42025319	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.379000	0.79691	2.746000	0.94184	0.655000	0.94253	GAG	KAT6A	-	smart_Histone_H1/H5	ENSG00000083168		0.448	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	69	0.00	0	C	NM_006766		41906162	41906162	-1	no_errors	ENST00000265713	ensembl	human	known	69_37n	missense	85	40.14	57	SNP	1.000	G
KCNC1	3746	genome.wustl.edu	37	11	17793649	17793649	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:17793649C>T	ENST00000379472.3	+	2	1038	c.1008C>T	c.(1006-1008)caC>caT	p.H336H	KCNC1_ENST00000265969.6_Silent_p.H336H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	336					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	TCCTGGGCCACACGCTCCGAG	0.617																																						dbGAP											0													31.0	31.0	31.0					11																	17793649		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1008C>T	11.37:g.17793649C>T			K4DI87	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.H336	ENST00000379472.3	37	c.1008	CCDS7827.1	11																																																																																			KCNC1	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000129159		0.617	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	48	0.00	0	C	NM_004976		17793649	17793649	+1	no_errors	ENST00000265969	ensembl	human	known	69_37n	silent	14	30.00	6	SNP	1.000	T
KCNC2	3747	genome.wustl.edu	37	12	75444403	75444403	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:75444403C>T	ENST00000549446.1	-	3	2062	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.G461E|KCNC2_ENST00000350228.2_Missense_Mutation_p.G461E|KCNC2_ENST00000393288.2_Missense_Mutation_p.G461E|KCNC2_ENST00000298972.1_Missense_Mutation_p.G461E|KCNC2_ENST00000548513.1_Missense_Mutation_p.G461E|KCNC2_ENST00000550433.1_Missense_Mutation_p.G461E|KCNC2_ENST00000540018.1_Missense_Mutation_p.G461E	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	461					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	TGTCAGCACTCCAGCCAGAGC	0.498																																						dbGAP											0													75.0	70.0	72.0					12																	75444403		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1382G>A	12.37:g.75444403C>T	ENSP00000449253:p.Gly461Glu		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.G461E	ENST00000549446.1	37	c.1382	CCDS9007.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418655	0.83559	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33;-5.33;-5.33;-5.33;-5.33	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99715	0.9890	H	0.99435	4.565	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	461;461;461;461;461	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	E	461	ENSP00000448301:G461E;ENSP00000449941:G461E;ENSP00000449253:G461E;ENSP00000340121:G461E;ENSP00000298972:G461E;ENSP00000319877:G461E;ENSP00000438423:G461E;ENSP00000376966:G461E	ENSP00000298972:G461E	G	-	2	0	KCNC2	73730670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GGA	KCNC2	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv	ENSG00000166006		0.498	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNC2	HGNC	protein_coding	OTTHUMT00000405581.2	70	0.00	0	C	NM_153748		75444403	75444403	-1	no_errors	ENST00000549446	ensembl	human	known	69_37n	missense	49	35.53	27	SNP	1.000	T
KCNF1	3754	genome.wustl.edu	37	2	11053362	11053362	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:11053362C>T	ENST00000295082.1	+	1	1300	c.810C>T	c.(808-810)ctC>ctT	p.L270L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	270					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ACGTGAGCCTCACGCTCACGC	0.622																																						dbGAP											0													59.0	50.0	53.0					2																	11053362		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.810C>T	2.37:g.11053362C>T			O43527|Q585L3	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.L270	ENST00000295082.1	37	c.810	CCDS1676.1	2																																																																																			KCNF1	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000162975		0.622	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1	17	0.00	0	C	NM_002236		11053362	11053362	+1	no_errors	ENST00000295082	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	1.000	T
KCNH7	90134	genome.wustl.edu	37	2	163291796	163291796	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:163291796G>A	ENST00000332142.5	-	8	1965	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	KCNH7_ENST00000328032.4_Silent_p.F615F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	622					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTAAACTGCTGAAGGTAAAAT	0.388																																					GBM(196;1492 2208 17507 24132 45496)	dbGAP											0													206.0	185.0	192.0					2																	163291796		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1866C>T	2.37:g.163291796G>A			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.F622	ENST00000332142.5	37	c.1866	CCDS2219.1	2																																																																																			KCNH7	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000184611		0.388	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	118	0.00	0	G	NM_033272		163291796	163291796	-1	no_errors	ENST00000332142	ensembl	human	known	69_37n	silent	94	38.16	58	SNP	1.000	A
KCNK18	338567	genome.wustl.edu	37	10	118969418	118969418	+	Missense_Mutation	SNP	G	G	C	rs3026042		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:118969418G>C	ENST00000334549.1	+	3	763	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	255			E -> K (in dbSNP:rs3026042).		cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTCGTGTCCCGAACTGGTGTT	0.532																																						dbGAP											0													152.0	136.0	141.0					10																	118969418		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.763G>C	10.37:g.118969418G>C	ENSP00000334650:p.Glu255Gln		Q5SQQ8	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.E255Q	ENST00000334549.1	37	c.763	CCDS7598.1	10	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136386	0.56936	.	.	ENSG00000186795	ENST00000334549	T	0.15372	2.43	5.4	4.48	0.54585	.	0.100987	0.64402	N	0.000003	T	0.25344	0.0616	L	0.34521	1.04	0.50632	D	0.999888	D	0.59357	0.985	P	0.57720	0.826	T	0.02167	-1.1202	10	0.20519	T	0.43	.	16.3839	0.83495	0.0:0.1321:0.8679:0.0	.	255	Q7Z418	KCNKI_HUMAN	Q	255	ENSP00000334650:E255Q	ENSP00000334650:E255Q	E	+	1	0	KCNK18	118959408	1.000000	0.71417	0.861000	0.33841	0.026000	0.11368	4.453000	0.60061	1.399000	0.46721	0.655000	0.94253	GAA	KCNK18	-	NULL	ENSG00000186795		0.532	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK18	HGNC	protein_coding	OTTHUMT00000050562.2	97	0.00	0	G	NM_181840		118969418	118969418	+1	no_errors	ENST00000334549	ensembl	human	known	69_37n	missense	24	68.83	53	SNP	1.000	C
KCNK2	3776	genome.wustl.edu	37	1	215408414	215408414	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:215408414G>A	ENST00000444842.2	+	7	1357	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	KCNK2_ENST00000391894.2_Missense_Mutation_p.E388K|KCNK2_ENST00000391895.2_Missense_Mutation_p.E399K	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	403	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	ACTGAAGACTGAGAGTATCTA	0.483																																						dbGAP											0													136.0	133.0	134.0					1																	215408414		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1207G>A	1.37:g.215408414G>A	ENSP00000394033:p.Glu403Lys		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.E403K	ENST00000444842.2	37	c.1207	CCDS41467.1	1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680251	0.68042	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.20069	2.1;2.11;2.1	5.72	5.72	0.89469	.	0.507603	0.21880	N	0.067756	T	0.17023	0.0409	N	0.14661	0.345	0.48288	D	0.999628	B;B;B	0.18310	0.007;0.016;0.027	B;B;B	0.18561	0.015;0.016;0.022	T	0.05920	-1.0856	10	0.49607	T	0.09	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	388;403;399	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	K	399;388;403	ENSP00000375765:E399K;ENSP00000375764:E388K;ENSP00000394033:E403K	ENSP00000375764:E388K	E	+	1	0	KCNK2	213475037	1.000000	0.71417	0.821000	0.32701	0.996000	0.88848	9.411000	0.97342	2.708000	0.92522	0.561000	0.74099	GAG	KCNK2	-	NULL	ENSG00000082482		0.483	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	114	0.00	0	G	NM_014217		215408414	215408414	+1	no_errors	ENST00000444842	ensembl	human	known	69_37n	missense	89	29.37	37	SNP	1.000	A
KDM3A	55818	genome.wustl.edu	37	2	86705067	86705067	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:86705067C>G	ENST00000409556.1	+	14	2372	c.2007C>G	c.(2005-2007)atC>atG	p.I669M	KDM3A_ENST00000312912.5_Missense_Mutation_p.I669M|KDM3A_ENST00000542128.1_Missense_Mutation_p.I617M|KDM3A_ENST00000409064.1_Missense_Mutation_p.I669M			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	669					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ACACCACCATCTTCAACCTGC	0.483																																					NSCLC(96;1150 1523 6936 46253 49736)	dbGAP											0													256.0	226.0	236.0					2																	86705067		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2007C>G	2.37:g.86705067C>G	ENSP00000386660:p.Ile669Met		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.I669M	ENST00000409556.1	37	c.2007	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292521	0.59976	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.84	3.08	0.35506	.	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	L	0.43152	1.355	0.40179	D	0.977262	D;D	0.67145	0.996;0.996	D;D	0.71656	0.974;0.943	D	0.89894	0.4039	10	0.66056	D	0.02	.	5.0622	0.14562	0.1453:0.626:0.0:0.2287	.	617;669	F5H070;Q9Y4C1	.;KDM3A_HUMAN	M	669;669;669;669;617	ENSP00000386660:I669M;ENSP00000323659:I669M;ENSP00000386516:I669M;ENSP00000438324:I617M	ENSP00000323659:I669M	I	+	3	3	KDM3A	86558578	0.943000	0.32029	1.000000	0.80357	0.995000	0.86356	0.070000	0.14573	0.385000	0.24970	0.655000	0.94253	ATC	KDM3A	-	NULL	ENSG00000115548		0.483	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	209	0.00	0	C	NM_018433		86705067	86705067	+1	no_errors	ENST00000312912	ensembl	human	known	69_37n	missense	114	39.15	74	SNP	1.000	G
KDM3B	51780	genome.wustl.edu	37	5	137759772	137759772	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:137759772G>C	ENST00000314358.5	+	16	4181	c.3981G>C	c.(3979-3981)aaG>aaC	p.K1327N	KDM3B_ENST00000542866.1_Missense_Mutation_p.K359N|KDM3B_ENST00000394866.1_Missense_Mutation_p.K983N	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1327					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGGGAGTGAAGAGCAAGGCCA	0.468																																						dbGAP											0													141.0	142.0	142.0					5																	137759772		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3981G>C	5.37:g.137759772G>C	ENSP00000326563:p.Lys1327Asn		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.K1327N	ENST00000314358.5	37	c.3981	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623967	0.46840	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.74106	-0.26;-0.81;-0.7	5.95	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	L	0.58428	1.81	0.54753	D	0.999988	D;B	0.76494	0.999;0.23	D;B	0.72075	0.976;0.106	T	0.79252	-0.1880	10	0.40728	T	0.16	-0.0729	10.5489	0.45077	0.2225:0.0:0.7775:0.0	.	983;1327	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	N	1327;1117;983;359	ENSP00000326563:K1327N;ENSP00000378335:K983N;ENSP00000439462:K359N	ENSP00000326563:K1327N	K	+	3	2	KDM3B	137787671	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.632000	0.46511	0.854000	0.35336	0.563000	0.77884	AAG	KDM3B	-	NULL	ENSG00000120733		0.468	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	17	0.00	0	G	NM_016604		137759772	137759772	+1	no_errors	ENST00000314358	ensembl	human	known	69_37n	missense	32	34.69	17	SNP	1.000	C
KDM4D	55693	genome.wustl.edu	37	11	94730615	94730615	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:94730615G>A	ENST00000335080.5	+	3	911	c.79G>A	c.(79-81)Gag>Aag	p.E27K	KDM4D_ENST00000536741.1_Missense_Mutation_p.E27K	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	27	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACCAAAGAAGAGTTTAATGA	0.368																																						dbGAP											0													97.0	106.0	103.0					11																	94730615		2201	4298	6499	-	-	-	SO:0001583	missense	0			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.79G>A	11.37:g.94730615G>A	ENSP00000334181:p.Glu27Lys		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E27K	ENST00000335080.5	37	c.79	CCDS8302.1	11	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489806	0.84962	.	.	ENSG00000186280	ENST00000335080	T	0.56103	0.48	3.87	3.87	0.44632	Transcription factor jumonji, JmjN (2);	0.000000	0.64402	U	0.000003	T	0.78259	0.4255	M	0.93978	3.48	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.84283	0.0495	10	0.87932	D	0	-20.2076	14.1447	0.65344	0.0:0.0:1.0:0.0	.	27	Q6B0I6	KDM4D_HUMAN	K	27	ENSP00000334181:E27K	ENSP00000334181:E27K	E	+	1	0	KDM4D	94370263	1.000000	0.71417	0.993000	0.49108	0.634000	0.38068	5.127000	0.64727	2.455000	0.83008	0.561000	0.74099	GAG	KDM4D	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN	ENSG00000186280		0.368	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4D	HGNC	protein_coding	OTTHUMT00000396558.2	56	0.00	0	G	NM_018039		94730615	94730615	+1	no_errors	ENST00000335080	ensembl	human	known	69_37n	missense	50	27.54	19	SNP	1.000	A
KDM5A	5927	genome.wustl.edu	37	12	465607	465607	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:465607C>G	ENST00000399788.2	-	6	1131	c.769G>C	c.(769-771)Gat>Cat	p.D257H	KDM5A_ENST00000382815.4_Missense_Mutation_p.D257H	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	257					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CCTTCTTTATCTTTTGTTCCC	0.383			T	NUP98	AML																																	dbGAP		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													90.0	86.0	87.0					12																	465607		1802	4080	5882	-	-	-	SO:0001583	missense	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.769G>C	12.37:g.465607C>G	ENSP00000382688:p.Asp257His		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.D257H	ENST00000399788.2	37	c.769	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708551	0.48517	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.85484	-1.99;-1.8	5.84	5.84	0.93424	.	0.398581	0.27600	N	0.018660	D	0.83926	0.5360	L	0.55990	1.75	0.45541	D	0.998497	B;B;B	0.14805	0.011;0.002;0.008	B;B;B	0.18263	0.021;0.011;0.021	T	0.78945	-0.2004	10	0.52906	T	0.07	-7.1994	18.326	0.90254	0.0:1.0:0.0:0.0	.	257;257;257	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	H	216;257;257	ENSP00000382688:D257H;ENSP00000372265:D257H	ENSP00000372265:D257H	D	-	1	0	KDM5A	335868	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.733000	0.38156	2.758000	0.94735	0.655000	0.94253	GAT	KDM5A	-	NULL	ENSG00000073614		0.383	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	82	0.00	0	C	NM_005056		465607	465607	-1	no_errors	ENST00000399788	ensembl	human	known	69_37n	missense	99	41.76	71	SNP	1.000	G
KIAA0100	9703	genome.wustl.edu	37	17	26964013	26964013	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:26964013G>A	ENST00000528896.2	-	15	2021	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.I506I|KIAA0100_ENST00000389003.3_Silent_p.I506I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	649						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGTGATAGGTGATGGAGAGCA	0.527																																						dbGAP											0													108.0	96.0	100.0					17																	26964013		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1947C>T	17.37:g.26964013G>A			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.I649	ENST00000528896.2	37	c.1947	CCDS32595.1	17																																																																																			KIAA0100	-	pfam_FMP27_N	ENSG00000007202		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	47	0.00	0	G	NM_014680		26964013	26964013	-1	no_errors	ENST00000005905	ensembl	human	known	69_37n	silent	31	34.04	16	SNP	0.999	A
KIAA0586	9786	genome.wustl.edu	37	14	58909503	58909503	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:58909503C>G	ENST00000556134.1	+	6	719	c.445C>G	c.(445-447)Cag>Gag	p.Q149E	KIAA0586_ENST00000538571.2_3'UTR|Y_RNA_ENST00000516389.1_RNA|KIAA0586_ENST00000423743.3_Missense_Mutation_p.Q120E|KIAA0586_ENST00000354386.6_Missense_Mutation_p.Q217E|KIAA0586_ENST00000261244.5_Missense_Mutation_p.Q164E	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	149					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCTGTTACTCAGGAGACTAG	0.423																																						dbGAP											0													51.0	50.0	50.0					14																	58909503		1878	4128	6006	-	-	-	SO:0001583	missense	0			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.445C>G	14.37:g.58909503C>G	ENSP00000452351:p.Gln149Glu		B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	NULL	p.Q149E	ENST00000556134.1	37	c.445	CCDS58321.1	14	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810665	0.32053	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000554463;ENST00000555833;ENST00000261244;ENST00000546216	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.22	4.27	0.50696	.	0.409426	0.23230	N	0.050469	T	0.57169	0.2035	M	0.66939	2.045	0.09310	N	0.999995	B;B;P;P;B;B	0.48911	0.218;0.341;0.852;0.917;0.341;0.341	B;B;B;P;B;B	0.60682	0.12;0.167;0.359;0.878;0.124;0.167	T	0.46596	-0.9180	10	0.30854	T	0.27	.	13.5338	0.61638	0.0:0.8441:0.1559:0.0	.	24;24;217;164;149;120	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	E	217;149;120;79;79;164;24	ENSP00000346359:Q217E;ENSP00000452351:Q149E;ENSP00000399427:Q120E;ENSP00000451831:Q79E;ENSP00000450855:Q79E;ENSP00000261244:Q164E	ENSP00000261244:Q164E	Q	+	1	0	KIAA0586	57979256	0.964000	0.33143	0.490000	0.27465	0.441000	0.31987	2.238000	0.43070	2.590000	0.87494	0.563000	0.77884	CAG	KIAA0586	-	NULL	ENSG00000100578		0.423	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0586	HGNC	protein_coding	OTTHUMT00000411887.1	54	0.00	0	C	NM_014749		58909503	58909503	+1	no_errors	ENST00000556134	ensembl	human	known	69_37n	missense	45	32.84	22	SNP	0.260	G
KIAA0754	643314	genome.wustl.edu	37	1	39877855	39877855	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:39877855G>C	ENST00000530275.1	+	1	1705	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	504										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTCAAACTGAGGGGAATGG	0.443																																						dbGAP											0													200.0	193.0	195.0					1																	39877855		1913	4138	6051	-	-	-	SO:0001583	missense	0					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1510G>C	1.37:g.39877855G>C	ENSP00000431179:p.Glu504Gln		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.E504Q	ENST00000530275.1	37	c.1510		1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887951	0.52014	.	.	ENSG00000255103	ENST00000530275	D	0.86497	-2.13	5.08	5.08	0.68730	.	.	.	.	.	D	0.89329	0.6684	L	0.27053	0.805	0.22779	N	0.998743	D	0.89917	1.0	D	0.87578	0.998	T	0.82378	-0.0487	9	0.87932	D	0	.	14.3545	0.66727	0.0:0.0:1.0:0.0	.	504	O94854	K0754_HUMAN	Q	504	ENSP00000431179:E504Q	ENSP00000431179:E504Q	E	+	1	0	RP4-562N20.1	39650442	0.878000	0.30173	0.997000	0.53966	0.981000	0.71138	1.434000	0.34958	2.543000	0.85770	0.655000	0.94253	GAG	KIAA0754	-	NULL	ENSG00000255103		0.443	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	90	0.00	0	G	NM_015038		39877855	39877855	+1	no_errors	ENST00000530275	ensembl	human	known	69_37n	missense	88	30.71	39	SNP	0.990	C
ICE1	23379	genome.wustl.edu	37	5	5464767	5464767	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:5464767C>G	ENST00000296564.7	+	13	5542	c.5320C>G	c.(5320-5322)Caa>Gaa	p.Q1774E		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1774					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.Q1774*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGGAATATTCAACTCACACG	0.493																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											36.0	36.0	36.0					5																	5464767		1904	4119	6023	-	-	-	SO:0001583	missense	0																														ENST00000296564.7:c.5320C>G	5.37:g.5464767C>G	ENSP00000296564:p.Gln1774Glu		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.Q1774E	ENST00000296564.7	37	c.5320	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338813	0.60963	.	.	ENSG00000164151	ENST00000296564	T	0.12255	2.7	5.34	5.34	0.76211	.	.	.	.	.	T	0.31544	0.0800	L	0.56769	1.78	0.26597	N	0.97309	D	0.57257	0.979	P	0.58520	0.84	T	0.05517	-1.0880	9	0.87932	D	0	-10.3084	16.5365	0.84373	0.0:1.0:0.0:0.0	.	1774	Q9Y2F5	K0947_HUMAN	E	1774	ENSP00000296564:Q1774E	ENSP00000296564:Q1774E	Q	+	1	0	KIAA0947	5517767	1.000000	0.71417	0.616000	0.29078	0.593000	0.36681	3.435000	0.52849	2.496000	0.84212	0.467000	0.42956	CAA	KIAA0947	-	NULL	ENSG00000164151		0.493	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	37	0.00	0	C			5464767	5464767	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	0.998	G
KIAA1210	57481	genome.wustl.edu	37	X	118221557	118221557	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:118221557C>G	ENST00000402510.2	-	11	3635	c.3636G>C	c.(3634-3636)aaG>aaC	p.K1212N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1212										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CACTGCCCCTCTTAAGAGCAG	0.468																																						dbGAP											0													38.0	35.0	36.0					X																	118221557		1882	4107	5989	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3636G>C	X.37:g.118221557C>G	ENSP00000384670:p.Lys1212Asn		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.K1212N	ENST00000402510.2	37	c.3636	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.82|10.82	1.458454|1.458454	0.26248|0.26248	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.11495	.|2.77	4.38|4.38	-5.16|-5.16	0.02857|0.02857	.|.	.|.	.|.	.|.	.|.	T|T	0.06142|0.06142	0.0159|0.0159	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|P	.|0.36837	.|0.571	.|B	.|0.35039	.|0.194	T|T	0.15407|0.15407	-1.0438|-1.0438	5|9	.|0.37606	.|T	.|0.19	.|.	2.0736|2.0736	0.03619|0.03619	0.1217:0.179:0.2259:0.4734|0.1217:0.179:0.2259:0.4734	.|.	.|1212	.|Q9ULL0	.|K1210_HUMAN	Q|N	619|1212	.|ENSP00000384670:K1212N	.|ENSP00000384670:K1212N	E|K	-|-	1|3	0|2	KIAA1210|RP13-347D8.6	118105585|118105585	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.171000|-1.171000	0.03115|0.03115	-1.559000|-1.559000	0.01688|0.01688	0.600000|0.600000	0.82982|0.82982	GAG|AAG	KIAA1210	-	NULL	ENSG00000250423		0.468	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	50	0.00	0	C	NM_020721		118221557	118221557	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	26	43.48	20	SNP	0.000	G
NWD2	57495	genome.wustl.edu	37	4	37447191	37447191	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:37447191G>C	ENST00000309447.5	+	7	4429	c.3581G>C	c.(3580-3582)aGc>aCc	p.S1194T		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1194										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						GAGGTGGTCAGCATTGAGCTT	0.468																																						dbGAP											0													37.0	32.0	33.0					4																	37447191		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000309447.5:c.3581G>C	4.37:g.37447191G>C	ENSP00000309501:p.Ser1194Thr		A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S1194T	ENST00000309447.5	37	c.3581	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	G	13.07	2.125883	0.37533	.	.	ENSG00000174145	ENST00000309447	T	0.69175	-0.38	6.17	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.097306	0.64402	D	0.000001	T	0.55242	0.1908	N	0.24115	0.695	0.48395	D	0.999644	B	0.02656	0.0	B	0.04013	0.001	T	0.47849	-0.9085	10	0.35671	T	0.21	.	17.4525	0.87596	0.0:0.1243:0.8757:0.0	.	1194	Q9ULI1	K1239_HUMAN	T	1194	ENSP00000309501:S1194T	ENSP00000309501:S1194T	S	+	2	0	KIAA1239	37123586	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.384000	0.73177	1.587000	0.49959	0.655000	0.94253	AGC	KIAA1239	-	superfamily_WD40_repeat_dom	ENSG00000174145		0.468	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	13	0.00	0	G			37447191	37447191	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	missense	11	52.17	12	SNP	1.000	C
NWD2	57495	genome.wustl.edu	37	4	37448426	37448426	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:37448426G>A	ENST00000309447.5	+	7	5664	c.4816G>A	c.(4816-4818)Gat>Aat	p.D1606N		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1606										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						GAGACTGGCAGATGGCAAAAA	0.453																																						dbGAP											0													94.0	85.0	88.0					4																	37448426		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000309447.5:c.4816G>A	4.37:g.37448426G>A	ENSP00000309501:p.Asp1606Asn		A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.D1606N	ENST00000309447.5	37	c.4816	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637383	0.87760	.	.	ENSG00000174145	ENST00000309447	D	0.86097	-2.07	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89332	0.6685	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	D	0.89609	0.3840	10	0.66056	D	0.02	.	20.2032	0.98269	0.0:0.0:1.0:0.0	.	1606	Q9ULI1	K1239_HUMAN	N	1606	ENSP00000309501:D1606N	ENSP00000309501:D1606N	D	+	1	0	KIAA1239	37124821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.785000	0.95823	0.650000	0.86243	GAT	KIAA1239	-	superfamily_WD40_repeat_dom	ENSG00000174145		0.453	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	35	0.00	0	G			37448426	37448426	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	missense	20	66.10	39	SNP	1.000	A
KIAA1549L	25758	genome.wustl.edu	37	11	33566596	33566596	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:33566596G>C	ENST00000321505.4	+	2	2346	c.2166G>C	c.(2164-2166)acG>acC	p.T722T	KIAA1549L_ENST00000265654.5_Silent_p.T728T|KIAA1549L_ENST00000389726.3_Silent_p.T728T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	722						integral component of membrane (GO:0016021)											GACATACCACGAGCACACATA	0.542																																						dbGAP											0													112.0	131.0	124.0					11																	33566596		2179	4267	6446	-	-	-	SO:0001819	synonymous_variant	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2166G>C	11.37:g.33566596G>C			B0QYU0	Missense_Mutation	SNP	NULL	p.R120P	ENST00000321505.4	37	c.359	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.096693	0.00364	.	.	ENSG00000110427	ENST00000526400	.	.	.	5.03	3.14	0.36123	.	.	.	.	.	T	0.32255	0.0823	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21690	-1.0238	4	.	.	.	7.3382	6.07	0.19883	0.249:0.0:0.6158:0.1351	.	.	.	.	P	120	.	.	R	+	2	0	C11orf41	33523172	0.165000	0.22948	0.006000	0.13384	0.001000	0.01503	1.173000	0.31920	0.183000	0.20059	-1.228000	0.01579	CGA	KIAA1549L	-	NULL	ENSG00000110427		0.542	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	78	0.00	0	G	NM_012194		33566596	33566596	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000526400	ensembl	human	putative	69_37n	missense	45	37.50	27	SNP	0.000	C
KIAA1614	57710	genome.wustl.edu	37	1	180904891	180904891	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:180904891G>A	ENST00000367588.4	+	5	1901	c.1846G>A	c.(1846-1848)Gac>Aac	p.D616N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.D237N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	616										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGACAGCACAGACAACTCTGA	0.652																																						dbGAP											0													26.0	32.0	30.0					1																	180904891		2176	4268	6444	-	-	-	SO:0001583	missense	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1846G>A	1.37:g.180904891G>A	ENSP00000356560:p.Asp616Asn		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	NULL	p.D616N	ENST00000367588.4	37	c.1846	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	g	10.41	1.342366	0.24339	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.34859	1.91;1.34	4.75	3.8	0.43715	.	0.183723	0.43919	D	0.000508	T	0.46983	0.1421	L	0.55481	1.735	0.22266	N	0.999246	D	0.67145	0.996	D	0.66847	0.947	T	0.51236	-0.8731	9	0.07030	T	0.85	-14.4254	12.4792	0.55831	0.0:0.1761:0.8239:0.0	.	616	Q5VZ46	K1614_HUMAN	N	616;237	ENSP00000356560:D616N;ENSP00000356559:D237N	ENSP00000356559:D237N	D	+	1	0	KIAA1614	179171514	0.215000	0.23574	0.019000	0.16419	0.008000	0.06430	2.367000	0.44213	0.933000	0.37291	0.556000	0.70494	GAC	KIAA1614	-	NULL	ENSG00000135835		0.652	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	14	0.00	0	G	XM_046531		180904891	180904891	+1	no_errors	ENST00000367588	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.206	A
KIAA1614	57710	genome.wustl.edu	37	1	180910280	180910280	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:180910280G>C	ENST00000367588.4	+	7	3073	c.3018G>C	c.(3016-3018)ctG>ctC	p.L1006L	KIAA1614_ENST00000367587.1_Silent_p.L627L|RP11-46A10.5_ENST00000358073.2_RNA	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1006	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCTGGGGCTGAAAAAGCTCT	0.647																																						dbGAP											0													36.0	43.0	41.0					1																	180910280		1907	4110	6017	-	-	-	SO:0001819	synonymous_variant	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3018G>C	1.37:g.180910280G>C			Q5VZ45|Q9HCF8	Silent	SNP	NULL	p.L1006	ENST00000367588.4	37	c.3018	CCDS41442.1	1																																																																																			KIAA1614	-	NULL	ENSG00000135835		0.647	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	21	0.00	0	G	XM_046531		180910280	180910280	+1	no_errors	ENST00000367588	ensembl	human	known	69_37n	silent	13	31.58	6	SNP	0.986	C
KIAA1731	85459	genome.wustl.edu	37	11	93460466	93460466	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:93460466G>C	ENST00000325212.6	+	24	6986	c.6824G>C	c.(6823-6825)aGa>aCa	p.R2275T	KIAA1731_ENST00000531700.1_Missense_Mutation_p.R455T|KIAA1731_ENST00000344196.4_Missense_Mutation_p.R455T|KIAA1731_ENST00000411936.1_Missense_Mutation_p.R2275T|TAF1D_ENST00000546088.1_5'Flank			Q9C0D2	K1731_HUMAN	KIAA1731	2275						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTAGAAAGCAGAAAGGAAAGT	0.363																																						dbGAP											0													108.0	97.0	100.0					11																	93460466		692	1591	2283	-	-	-	SO:0001583	missense	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.6824G>C	11.37:g.93460466G>C	ENSP00000316681:p.Arg2275Thr		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.R2275T	ENST00000325212.6	37	c.6824	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	G	13.51	2.260224	0.39995	.	.	ENSG00000166004	ENST00000325212;ENST00000411936;ENST00000344196;ENST00000531700;ENST00000531404	T;T	0.12984	2.63;2.64	4.29	-2.12	0.07165	.	.	.	.	.	T	0.14527	0.0351	L	0.48642	1.525	0.09310	N	1	P;P;P	0.43701	0.557;0.557;0.815	B;B;P	0.44359	0.279;0.368;0.447	T	0.20840	-1.0263	9	0.87932	D	0	.	9.1161	0.36758	0.5343:0.0:0.4657:0.0	.	2275;2275;455	Q9C0D2;Q9C0D2-3;Q9C0D2-2	K1731_HUMAN;.;.	T	2275;2275;455;455;287	ENSP00000316681:R2275T;ENSP00000406505:R2275T	ENSP00000316681:R2275T	R	+	2	0	KIAA1731	93100114	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.415000	0.21181	-0.368000	0.08040	-0.203000	0.12734	AGA	KIAA1731	-	NULL	ENSG00000166004		0.363	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	46	0.00	0	G	NM_033395		93460466	93460466	+1	no_errors	ENST00000411936	ensembl	human	known	69_37n	missense	42	38.24	26	SNP	0.000	C
KIAA2018	205717	genome.wustl.edu	37	3	113377063	113377063	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:113377063C>T	ENST00000478658.1	-	5	3483	c.3466G>A	c.(3466-3468)Gat>Aat	p.D1156N	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.D1156N			Q68DE3	K2018_HUMAN	KIAA2018	1156						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCCTTATATCAGCCTGGAGG	0.473																																						dbGAP											0													101.0	93.0	95.0					3																	113377063		1882	4113	5995	-	-	-	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3466G>A	3.37:g.113377063C>T	ENSP00000420721:p.Asp1156Asn		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.D1156N	ENST00000478658.1	37	c.3466	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108710	0.37242	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.17854	2.25;2.25	5.43	4.56	0.56223	.	0.220728	0.37393	N	0.002106	T	0.10078	0.0247	N	0.14661	0.345	0.50632	D	0.999887	B	0.21606	0.058	B	0.20184	0.028	T	0.16188	-1.0411	10	0.32370	T	0.25	-16.5942	9.8224	0.40891	0.0:0.8266:0.0:0.1734	.	1156	Q68DE3	K2018_HUMAN	N	1156	ENSP00000320794:D1156N;ENSP00000420721:D1156N	ENSP00000320794:D1156N	D	-	1	0	KIAA2018	114859753	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	3.444000	0.52914	1.305000	0.44909	0.561000	0.74099	GAT	KIAA2018	-	NULL	ENSG00000176542		0.473	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	85	0.00	0	C	NM_001009899		113377063	113377063	-1	no_errors	ENST00000316407	ensembl	human	known	69_37n	missense	88	27.27	33	SNP	1.000	T
KIAA2022	340533	genome.wustl.edu	37	X	73963609	73963609	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:73963609G>A	ENST00000055682.6	-	3	1394	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	261					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAAAAGTCTCGAAGTAACCCC	0.393																																						dbGAP											0													122.0	113.0	116.0					X																	73963609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.783C>T	X.37:g.73963609G>A			A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.F261	ENST00000055682.6	37	c.783	CCDS35337.1	X																																																																																			KIAA2022	-	NULL	ENSG00000050030		0.393	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	129	0.00	0	G	NM_001008537		73963609	73963609	-1	no_errors	ENST00000055682	ensembl	human	known	69_37n	silent	69	41.53	49	SNP	1.000	A
KIAA2026	158358	genome.wustl.edu	37	9	5969267	5969267	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:5969267C>G	ENST00000399933.3	-	3	963	c.964G>C	c.(964-966)Gaa>Caa	p.E322Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E322Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	322										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAGACTATTTCTGGCAAATTT	0.403																																						dbGAP											0													77.0	70.0	72.0					9																	5969267		1861	4093	5954	-	-	-	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.964G>C	9.37:g.5969267C>G	ENSP00000382815:p.Glu322Gln		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.E322Q	ENST00000399933.3	37	c.964		9	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696138	0.68386	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	6.07	6.07	0.98685	.	0.000000	0.50627	U	0.000120	T	0.58264	0.2110	L	0.34521	1.04	0.54753	D	0.99998	P	0.47677	0.899	P	0.47915	0.561	T	0.53760	-0.8393	9	0.39692	T	0.17	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	322	Q5HYC2	K2026_HUMAN	Q	322;322;255	.	ENSP00000370870:E322Q	E	-	1	0	KIAA2026	5959267	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.459000	0.80802	2.890000	0.99128	0.585000	0.79938	GAA	KIAA2026	-	NULL	ENSG00000183354		0.403	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	51	0.00	0	C	NM_001017969		5969267	5969267	-1	no_errors	ENST00000399933	ensembl	human	novel	69_37n	missense	19	61.54	32	SNP	1.000	G
KIF13A	63971	genome.wustl.edu	37	6	17781527	17781527	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:17781527C>G	ENST00000259711.6	-	30	3655	c.3550G>C	c.(3550-3552)Gac>Cac	p.D1184H	KIF13A_ENST00000378826.2_Missense_Mutation_p.D1184H|KIF13A_ENST00000378843.2_Missense_Mutation_p.D1171H|KIF13A_ENST00000378816.5_Missense_Mutation_p.D1184H|KIF13A_ENST00000378814.5_Missense_Mutation_p.D1171H	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1184					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCACTGAGGTCATCCGCTAAC	0.458																																						dbGAP											0													57.0	58.0	57.0					6																	17781527		1958	4143	6101	-	-	-	SO:0001583	missense	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3550G>C	6.37:g.17781527C>G	ENSP00000259711:p.Asp1184His		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D1184H	ENST00000259711.6	37	c.3550	CCDS47381.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.36|19.36	3.812018|3.812018	0.70797|0.70797	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044|ENST00000358380	T;T;T;T;T;T|.	0.73469|.	-0.75;1.69;-0.74;-0.74;-0.74;-0.74|.	5.14|5.14	4.27|4.27	0.50696|0.50696	.|.	0.091425|.	0.85682|.	D|.	0.000000|.	T|T	0.67496|0.67496	0.2899|0.2899	M|M	0.80847|0.80847	2.515|2.515	0.48288|0.48288	D|D	0.999628|0.999628	P;D;D;D|.	0.58970|.	0.846;0.984;0.975;0.967|.	P;P;P;P|.	0.62298|.	0.508;0.894;0.9;0.819|.	T|T	0.71045|0.71045	-0.4706|-0.4706	10|5	0.87932|.	D|.	0|.	.|.	13.3908|13.3908	0.60823|0.60823	0.0:0.9227:0.0:0.0773|0.0:0.9227:0.0:0.0773	.|.	1171;1184;1184;1171|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	H|I	1171;188;1184;1184;1171;1184;182|577	ENSP00000368091:D1171H;ENSP00000425616:D188H;ENSP00000259711:D1184H;ENSP00000368103:D1184H;ENSP00000368120:D1171H;ENSP00000368093:D1184H|.	ENSP00000259711:D1184H|.	D|M	-|-	1|3	0|0	KIF13A|KIF13A	17889506|17889506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.835000|0.835000	0.47333|0.47333	4.780000|4.780000	0.62382|0.62382	1.301000|1.301000	0.44836|0.44836	0.561000|0.561000	0.74099|0.74099	GAC|ATG	KIF13A	-	pfam_Kinesin-like	ENSG00000137177		0.458	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	37	0.00	0	C			17781527	17781527	-1	no_errors	ENST00000259711	ensembl	human	known	69_37n	missense	9	52.63	10	SNP	1.000	G
KIF27	55582	genome.wustl.edu	37	9	86518066	86518066	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:86518066G>C	ENST00000297814.2	-	4	1510	c.1367C>G	c.(1366-1368)tCa>tGa	p.S456*	KIF27_ENST00000413982.1_Nonsense_Mutation_p.S456*|KIF27_ENST00000334204.2_Nonsense_Mutation_p.S456*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	456					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCTCGAAATGAGGTGAGGAC	0.463																																						dbGAP											0													152.0	138.0	143.0					9																	86518066		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1367C>G	9.37:g.86518066G>C	ENSP00000297814:p.Ser456*		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S456*	ENST00000297814.2	37	c.1367	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686699	0.48097	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	.	.	.	4.84	3.95	0.45737	.	1.211430	0.05976	N	0.643285	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	6.0361	0.19708	0.2584:0.0:0.7416:0.0	.	.	.	.	X	456	.	ENSP00000297814:S456X	S	-	2	0	KIF27	85707886	0.036000	0.19791	0.009000	0.14445	0.016000	0.09150	2.366000	0.44204	1.278000	0.44430	0.655000	0.94253	TCA	KIF27	-	NULL	ENSG00000165115		0.463	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	91	0.00	0	G	NM_017576		86518066	86518066	-1	no_errors	ENST00000297814	ensembl	human	known	69_37n	nonsense	63	41.28	45	SNP	0.000	C
KLHL12	59349	genome.wustl.edu	37	1	202894213	202894213	+	Silent	SNP	G	G	C	rs564815058		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:202894213G>C	ENST00000367261.3	-	2	296	c.78C>G	c.(76-78)ctC>ctG	p.L26L	KLHL12_ENST00000435533.3_Silent_p.L64L	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	26					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGCTCTTCCTGAGGGAGTTCA	0.458																																						dbGAP											0													169.0	163.0	165.0					1																	202894213		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.78C>G	1.37:g.202894213G>C			A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L64	ENST00000367261.3	37	c.192	CCDS1429.1	1																																																																																			KLHL12	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin	ENSG00000117153		0.458	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL12	HGNC	protein_coding	OTTHUMT00000099151.1	59	0.00	0	G	NM_021633		202894213	202894213	-1	no_errors	ENST00000435533	ensembl	human	known	69_37n	silent	89	31.01	40	SNP	1.000	C
KLHL14	57565	genome.wustl.edu	37	18	30260213	30260213	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr18:30260213C>G	ENST00000359358.4	-	7	1945	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	503						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.D503H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGTTCATATCTTGTTTTCGA	0.378																																						dbGAP											1	Substitution - Missense(1)	lung(1)											167.0	145.0	152.0					18																	30260213		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1507G>C	18.37:g.30260213C>G	ENSP00000352314:p.Asp503His		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D503H	ENST00000359358.4	37	c.1507	CCDS32813.1	18	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251944	0.80135	.	.	ENSG00000197705	ENST00000359358	T	0.79141	-1.24	5.87	5.87	0.94306	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.89058	0.6607	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89145	0.3519	10	0.72032	D	0.01	.	20.2033	0.98269	0.0:1.0:0.0:0.0	.	503	Q9P2G3	KLH14_HUMAN	H	503	ENSP00000352314:D503H	ENSP00000352314:D503H	D	-	1	0	KLHL14	28514211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.779000	0.95612	0.655000	0.94253	GAT	KLHL14	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197705		0.378	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	85	0.00	0	C			30260213	30260213	-1	no_errors	ENST00000359358	ensembl	human	known	69_37n	missense	33	65.62	63	SNP	1.000	G
KLHL25	64410	genome.wustl.edu	37	15	86312361	86312361	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:86312361G>C	ENST00000337975.5	-	2	955	c.681C>G	c.(679-681)gtC>gtG	p.V227V	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Silent_p.V227V|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	227	BACK.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CGGGCAAGTGGACCTTCCGTG	0.662																																						dbGAP											0													51.0	42.0	45.0					15																	86312361		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.681C>G	15.37:g.86312361G>C			B2RDH2|B3KRT7	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V227	ENST00000337975.5	37	c.681	CCDS10339.1	15																																																																																			KLHL25	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000183655		0.662	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL25	HGNC	protein_coding	OTTHUMT00000309023.1	17	0.00	0	G	NM_022480		86312361	86312361	-1	no_errors	ENST00000337975	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	0.006	C
KRIT1	889	genome.wustl.edu	37	7	91864902	91864902	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:91864902G>C	ENST00000340022.2	-	8	1562	c.544C>G	c.(544-546)Cct>Gct	p.P182A	KRIT1_ENST00000394505.2_Missense_Mutation_p.P182A|KRIT1_ENST00000412043.2_Missense_Mutation_p.P182A|KRIT1_ENST00000394507.1_Missense_Mutation_p.P182A|KRIT1_ENST00000394503.2_Missense_Mutation_p.P182A	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	182	Interaction with ITGB1BP1.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CGCTCAAGAGGAGAAGGTCGG	0.388																																						dbGAP											0													114.0	111.0	112.0					7																	91864902		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.544C>G	7.37:g.91864902G>C	ENSP00000344668:p.Pro182Ala		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain	p.P182A	ENST00000340022.2	37	c.544	CCDS5624.1	7	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193762	0.38707	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016	T;T;T;T;T;D;D	0.84660	1.22;1.22;1.22;1.22;-0.28;-1.88;-1.61	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	N	0.14661	0.345	0.80722	D	1	B;D	0.69078	0.15;0.997	B;D	0.73380	0.027;0.98	T	0.81651	-0.0836	10	0.13470	T	0.59	-5.8892	18.7703	0.91888	0.0:0.0:1.0:0.0	.	182;182	A6NNU0;O00522	.;KRIT1_HUMAN	A	182	ENSP00000378015:P182A;ENSP00000344668:P182A;ENSP00000410909:P182A;ENSP00000378013:P182A;ENSP00000378011:P182A;ENSP00000391675:P182A;ENSP00000410104:P182A	ENSP00000344668:P182A	P	-	1	0	KRIT1	91702838	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.416000	0.81992	0.460000	0.39030	CCT	KRIT1	-	NULL	ENSG00000001631		0.388	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRIT1	HGNC	protein_coding	OTTHUMT00000253910.1	89	0.00	0	G			91864902	91864902	-1	no_errors	ENST00000340022	ensembl	human	known	69_37n	missense	94	40.88	65	SNP	1.000	C
KRT86	3892	genome.wustl.edu	37	12	52646134	52646134	+	Intron	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:52646134G>C	ENST00000544024.1	+	1	129				KRT121P_ENST00000529785.1_RNA			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTACTCCCTGATCAGGCAGG	0.642																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000544024.1:c.-5+2922G>C	12.37:g.52646134G>C			P78387	RNA	SNP	-	NULL	ENST00000544024.1	37	NULL	CCDS41785.1	12																																																																																			KRT121P	-	-	ENSG00000135477		0.642	KRT86-202	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT121P	HGNC	protein_coding		90	0.00	0	G	NM_002284		52646134	52646134	-1	no_errors	ENST00000529785	ensembl	human	known	69_37n	rna	41	31.67	19	SNP	1.000	C
KRTAP21-1	337977	genome.wustl.edu	37	21	32127476	32127476	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr21:32127476C>G	ENST00000335093.3	-	1	270	c.221G>C	c.(220-222)aGa>aCa	p.R74T		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	74						intermediate filament (GO:0005882)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						AGAATAGCATCTTCTAAAGCA	0.463																																						dbGAP											0													86.0	90.0	89.0					21																	32127476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"""Keratin associated proteins"""	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.221G>C	21.37:g.32127476C>G	ENSP00000335566:p.Arg74Thr			Missense_Mutation	SNP	NULL	p.R74T	ENST00000335093.3	37	c.221	CCDS13606.1	21	.	.	.	.	.	.	.	.	.	.	C	6.912	0.537842	0.13188	.	.	ENSG00000187005	ENST00000335093	.	.	.	4.42	2.55	0.30701	.	.	.	.	.	T	0.30947	0.0781	.	.	.	0.22601	N	0.998944	B	0.09022	0.002	B	0.08055	0.003	T	0.24048	-1.0171	7	0.56958	D	0.05	.	7.9932	0.30252	0.1817:0.6428:0.1755:0.0	.	74	Q3LI58	KR211_HUMAN	T	74	.	ENSP00000335566:R74T	R	-	2	0	KRTAP21-1	31049347	0.480000	0.25933	0.793000	0.32043	0.480000	0.33159	0.257000	0.18369	0.527000	0.28560	0.643000	0.83706	AGA	KRTAP21-1	-	NULL	ENSG00000187005		0.463	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP21-1	HGNC	protein_coding	OTTHUMT00000128229.2	168	0.00	0	C			32127476	32127476	-1	no_errors	ENST00000335093	ensembl	human	known	69_37n	missense	21	83.46	106	SNP	0.964	G
KRTAP8-1	337879	genome.wustl.edu	37	21	32185355	32185355	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr21:32185355G>C	ENST00000329621.4	-	1	215	c.184C>G	c.(184-186)Ctc>Gtc	p.L62V		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	62						intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(1)|lung(4)	6						AATCAGTAGAGAGCAAATGGC	0.562																																						dbGAP											0													85.0	81.0	82.0					21																	32185355		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ457064	CCDS13607.1	21q22.1	2006-03-13			ENSG00000183640	ENSG00000183640		"""Keratin associated proteins"""	18935	protein-coding gene	gene with protein product						12359730	Standard	NM_175857		Approved	KAP8.1	uc002you.3	Q8IUC2	OTTHUMG00000057771	ENST00000329621.4:c.184C>G	21.37:g.32185355G>C	ENSP00000332805:p.Leu62Val		Q3LI57	Missense_Mutation	SNP	pfam_KRTAP	p.L62V	ENST00000329621.4	37	c.184	CCDS13607.1	21	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254851	0.22965	.	.	ENSG00000183640	ENST00000329621	.	.	.	5.56	2.75	0.32379	.	0.125116	0.36268	N	0.002686	T	0.30947	0.0781	.	.	.	0.25715	N	0.985438	B	0.29378	0.243	B	0.31614	0.133	T	0.25117	-1.0141	8	0.62326	D	0.03	-11.3383	5.4923	0.16783	0.1744:0.1654:0.6603:0.0	.	62	Q8IUC2	KRA81_HUMAN	V	62	.	ENSP00000332805:L62V	L	-	1	0	KRTAP8-1	31107226	0.944000	0.32072	0.725000	0.30721	0.375000	0.29983	1.432000	0.34936	0.819000	0.34492	0.655000	0.94253	CTC	KRTAP8-1	-	NULL	ENSG00000183640		0.562	KRTAP8-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP8-1	HGNC	protein_coding	OTTHUMT00000128223.1	76	0.00	0	G			32185355	32185355	-1	no_errors	ENST00000329621	ensembl	human	known	69_37n	missense	3	93.33	42	SNP	0.616	C
L3MBTL2	83746	genome.wustl.edu	37	22	41613161	41613161	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:41613161G>A	ENST00000216237.5	+	5	713	c.555G>A	c.(553-555)ctG>ctA	p.L185L	L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	185					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGAAGTTCCTGAAGGATCACA	0.637																																						dbGAP											0													84.0	74.0	77.0					22																	41613161		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.555G>A	22.37:g.41613161G>A			Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt	p.E133K	ENST00000216237.5	37	c.397	CCDS14011.1	22	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428472	0.43122	.	.	ENSG00000100395	ENST00000449635	.	.	.	5.25	4.23	0.50019	.	.	.	.	.	T	0.63462	0.2513	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60414	-0.7268	4	.	.	.	.	12.3359	0.55067	0.0671:0.0:0.8128:0.1201	.	.	.	.	K	133	.	.	E	+	1	0	L3MBTL2	39943107	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.681000	0.46926	0.878000	0.35920	-0.797000	0.03246	GAA	L3MBTL2	-	smart_Mbt,pfscan_Mbt	ENSG00000100395		0.637	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	47	0.00	0	G	NM_031488		41613161	41613161	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000449635	ensembl	human	known	69_37n	missense	31	40.38	21	SNP	1.000	A
LAMP2	3920	genome.wustl.edu	37	X	119575637	119575637	+	Silent	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:119575637G>T	ENST00000200639.4	-	8	1177	c.1041C>A	c.(1039-1041)acC>acA	p.T347T	LAMP2_ENST00000371335.4_Silent_p.T347T|LAMP2_ENST00000538785.1_Silent_p.T236T|LAMP2_ENST00000434600.2_Silent_p.T347T|LAMP2_ENST00000540603.1_Silent_p.T300T			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	347	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TTAGATCAAAGGTATTTATCT	0.378																																						dbGAP											0													126.0	114.0	118.0					X																	119575637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1041C>A	X.37:g.119575637G>T			A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.P195H	ENST00000200639.4	37	c.584	CCDS14599.1	X																																																																																			LAMP2	-	pfam_Lysosome-assoc_membr_glycop	ENSG00000005893		0.378	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LAMP2	HGNC	protein_coding	OTTHUMT00000058099.1	121	0.00	0	G			119575637	119575637	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000486593	ensembl	human	known	69_37n	missense	63	38.83	40	SNP	0.993	T
LCK	3932	genome.wustl.edu	37	1	32751206	32751206	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:32751206G>A	ENST00000336890.5	+	13	1557	c.1419G>A	c.(1417-1419)atG>atA	p.M473I	LCK_ENST00000333070.4_Missense_Mutation_p.M503I|Y_RNA_ENST00000516641.1_RNA|LCK_ENST00000373564.3_Missense_Mutation_p.M480I	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	473	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	ACCAACTCATGAGGCTGTGCT	0.612			T	TRB@	T-ALL																																	dbGAP		Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0													81.0	75.0	77.0					1																	32751206		2203	4300	6503	-	-	-	SO:0001583	missense	0			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.1419G>A	1.37:g.32751206G>A	ENSP00000337825:p.Met473Ile		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.M503I	ENST00000336890.5	37	c.1509	CCDS359.1	1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850196	0.71719	.	.	ENSG00000182866	ENST00000336890;ENST00000398345;ENST00000333070;ENST00000436824;ENST00000373564	D;D;D	0.85773	-2.03;-2.03;-2.03	5.05	5.05	0.67936	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	D	0.86826	0.6026	L	0.39692	1.235	0.80722	D	1	B;B;B	0.34372	0.451;0.264;0.396	P;B;B	0.48189	0.57;0.263;0.394	D	0.86638	0.1890	10	0.52906	T	0.07	.	17.4266	0.87528	0.0:0.0:1.0:0.0	.	480;503;473	Q573B4;P06239-3;P06239	.;.;LCK_HUMAN	I	473;213;503;500;480	ENSP00000337825:M473I;ENSP00000328213:M503I;ENSP00000362665:M480I	ENSP00000328213:M503I	M	+	3	0	LCK	32523793	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.778000	0.99011	2.531000	0.85337	0.650000	0.86243	ATG	LCK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000182866		0.612	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCK	HGNC	protein_coding	OTTHUMT00000019616.4	28	0.00	0	G	NM_005356		32751206	32751206	+1	no_errors	ENST00000333070	ensembl	human	known	69_37n	missense	39	25.00	13	SNP	1.000	A
LEAP2	116842	genome.wustl.edu	37	5	132209725	132209725	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:132209725C>T	ENST00000296877.2	+	2	1514	c.141C>T	c.(139-141)ctC>ctT	p.L47L	LEAP2_ENST00000485457.1_3'UTR	NM_052971.2	NP_443203.1	Q969E1	LEAP2_HUMAN	liver expressed antimicrobial peptide 2	47					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				NS(1)|endometrium(1)	2		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGTTTCCCTCAGGCCTATTG	0.552																																						dbGAP											0													67.0	68.0	68.0					5																	132209725		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ409065, BX443829	CCDS4163.1	5q31.1	2008-02-05			ENSG00000164406	ENSG00000164406			29571	protein-coding gene	gene with protein product		611373				12493837	Standard	NM_052971		Approved	LEAP-2	uc003kyc.3	Q969E1	OTTHUMG00000059837	ENST00000296877.2:c.141C>T	5.37:g.132209725C>T			D3DQ91	Silent	SNP	pfam_LEAP-2	p.L47	ENST00000296877.2	37	c.141	CCDS4163.1	5																																																																																			LEAP2	-	pfam_LEAP-2	ENSG00000164406		0.552	LEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEAP2	HGNC	protein_coding	OTTHUMT00000133046.1	32	0.00	0	C	NM_052971		132209725	132209725	+1	no_errors	ENST00000296877	ensembl	human	known	69_37n	silent	8	73.33	22	SNP	0.996	T
LMAN2	10960	genome.wustl.edu	37	5	176764139	176764139	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:176764139G>A	ENST00000303127.7	-	6	992	c.788C>T	c.(787-789)tCt>tTt	p.S263F	LMAN2_ENST00000506310.1_5'Flank|LMAN2_ENST00000515209.1_Missense_Mutation_p.S263F	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	263	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACTCACCAGACAGGTCGCC	0.627																																						dbGAP											0													38.0	39.0	38.0					5																	176764139		2202	4298	6500	-	-	-	SO:0001583	missense	0			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"""chromosome 5 open reading frame 8"""	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.788C>T	5.37:g.176764139G>A	ENSP00000303366:p.Ser263Phe		Q53HH1	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	p.S263F	ENST00000303127.7	37	c.788	CCDS4417.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528815	0.85706	.	.	ENSG00000169223	ENST00000303127;ENST00000539488;ENST00000515209;ENST00000502560	T;T;T	0.67171	-0.25;-0.25;-0.25	5.86	5.86	0.93980	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.86314	0.5903	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.87826	0.2641	10	0.59425	D	0.04	-12.5823	19.7876	0.96444	0.0:0.0:1.0:0.0	.	263;263	Q12907;D6RBV2	LMAN2_HUMAN;.	F	263;192;263;256	ENSP00000303366:S263F;ENSP00000423998:S263F;ENSP00000425229:S256F	ENSP00000303366:S263F	S	-	2	0	LMAN2	176696745	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	9.362000	0.97126	2.778000	0.95560	0.655000	0.94253	TCT	LMAN2	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	ENSG00000169223		0.627	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN2	HGNC	protein_coding	OTTHUMT00000253434.1	27	0.00	0	G	NM_006816		176764139	176764139	-1	no_errors	ENST00000303127	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	1.000	A
LMTK2	22853	genome.wustl.edu	37	7	97833436	97833436	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:97833436C>G	ENST00000297293.5	+	13	4714	c.4421C>G	c.(4420-4422)tCt>tGt	p.S1474C		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1474				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTCTCCATCTCTCCCGCCAAC	0.637																																						dbGAP											0													72.0	78.0	76.0					7																	97833436		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4421C>G	7.37:g.97833436C>G	ENSP00000297293:p.Ser1474Cys		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1474C	ENST00000297293.5	37	c.4421	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911073	0.92178	.	.	ENSG00000164715	ENST00000297293	D	0.93133	-3.17	5.36	5.36	0.76844	.	0.053216	0.85682	D	0.000000	D	0.96719	0.8929	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.97101	0.9797	10	0.87932	D	0	.	18.4328	0.90632	0.0:1.0:0.0:0.0	.	1474	Q8IWU2	LMTK2_HUMAN	C	1474	ENSP00000297293:S1474C	ENSP00000297293:S1474C	S	+	2	0	LMTK2	97671372	1.000000	0.71417	0.957000	0.39632	0.894000	0.52154	7.440000	0.80464	2.667000	0.90743	0.563000	0.77884	TCT	LMTK2	-	NULL	ENSG00000164715		0.637	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	29	0.00	0	C	NM_014916		97833436	97833436	+1	no_errors	ENST00000297293	ensembl	human	known	69_37n	missense	35	46.97	31	SNP	1.000	G
LOXHD1	125336	genome.wustl.edu	37	18	44113241	44113241	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr18:44113241G>C	ENST00000398722.4	-	21	3424	c.3425C>G	c.(3424-3426)tCt>tGt	p.S1142C	LOXHD1_ENST00000300591.6_Missense_Mutation_p.S309C|LOXHD1_ENST00000441551.2_Missense_Mutation_p.S1214C|LOXHD1_ENST00000579038.1_Missense_Mutation_p.S213C|LOXHD1_ENST00000441893.2_Missense_Mutation_p.S353C|LOXHD1_ENST00000536736.1_Missense_Mutation_p.S1420C|LOXHD1_ENST00000582408.1_Missense_Mutation_p.S309C			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1142	PLAT 8. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						GTCATCCTCAGAGGTGGCAAG	0.463																																						dbGAP											0													131.0	102.0	111.0					18																	44113241		692	1591	2283	-	-	-	SO:0001583	missense	0			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.3425C>G	18.37:g.44113241G>C	ENSP00000381707:p.Ser1142Cys		B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	p.S1420C	ENST00000398722.4	37	c.4259		18	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795837	0.50208	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000536736;ENST00000441893;ENST00000335730	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.48	5.48	0.80851	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.124973	0.56097	D	0.000036	T	0.60907	0.2305	M	0.80847	2.515	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	T	0.65018	-0.6270	10	0.72032	D	0.01	.	19.3388	0.94332	0.0:0.0:1.0:0.0	.	1420;353;1142;1142	F5GZB4;F8WA52;Q8IVV2-2;Q8IVV2	.;.;.;LOXH1_HUMAN	C	309;1142;1420;353;1142	ENSP00000300591:S309C;ENSP00000381707:S1142C;ENSP00000444586:S1420C;ENSP00000409062:S353C	ENSP00000300591:S309C	S	-	2	0	LOXHD1	42367239	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	9.415000	0.97375	2.564000	0.86499	0.462000	0.41574	TCT	LOXHD1	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,pfscan_LipOase_LH2	ENSG00000167210		0.463	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	HGNC	protein_coding		111	0.00	0	G	NM_144612		44113241	44113241	-1	no_errors	ENST00000536736	ensembl	human	known	69_37n	missense	12	69.23	27	SNP	1.000	C
LPA	4018	genome.wustl.edu	37	6	161022015	161022015	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:161022015C>G	ENST00000316300.5	-	19	3105	c.3061G>C	c.(3061-3063)Gaa>Caa	p.E1021Q	LPA_ENST00000447678.1_Missense_Mutation_p.E1021Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3529	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCAGTCCATTCTGCATCTGAG	0.498																																						dbGAP											0													85.0	88.0	87.0					6																	161022015		2194	4300	6494	-	-	-	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3061G>C	6.37:g.161022015C>G	ENSP00000321334:p.Glu1021Gln		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.E1021Q	ENST00000316300.5	37	c.3061	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	10.05	1.245079	0.22796	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62941	-0.01;-0.01	2.23	0.0786	0.14413	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.51550	0.1681	M	0.63428	1.95	0.09310	N	1	P	0.50528	0.936	P	0.61201	0.885	T	0.49041	-0.8980	9	0.15952	T	0.53	.	7.8468	0.29431	0.0:0.5604:0.4396:0.0	.	3529	P08519	APOA_HUMAN	Q	1021	ENSP00000321334:E1021Q;ENSP00000395608:E1021Q	ENSP00000321334:E1021Q	E	-	1	0	LPA	160942005	0.000000	0.05858	0.000000	0.03702	0.279000	0.26890	-0.557000	0.05985	-0.153000	0.11137	0.205000	0.17691	GAA	LPA	-	superfamily_Kringle-like	ENSG00000198670		0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	77	0.00	0	C	NM_005577		161022015	161022015	-1	no_errors	ENST00000316300	ensembl	human	known	69_37n	missense	47	42.68	35	SNP	0.000	G
LRCH2	57631	genome.wustl.edu	37	X	114400482	114400482	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:114400482G>C	ENST00000317135.8	-	8	1150	c.1120C>G	c.(1120-1122)Caa>Gaa	p.Q374E	LRCH2_ENST00000538422.1_Missense_Mutation_p.Q374E	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	374										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TCTGAGACTTGAGAATGAAGG	0.353																																						dbGAP											0													100.0	75.0	83.0					X																	114400482		1868	4058	5926	-	-	-	SO:0001583	missense	0			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1120C>G	X.37:g.114400482G>C	ENSP00000325091:p.Gln374Glu		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.Q374E	ENST00000317135.8	37	c.1120	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050185	0.75846	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.00864	5.64;5.6	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	M	0.66939	2.045	0.80722	D	1	P;D	0.60160	0.956;0.987	D;P	0.65010	0.931;0.798	T	0.61267	-0.7097	10	0.25106	T	0.35	-12.1438	17.2556	0.87055	0.0:0.0:1.0:0.0	.	374;374	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	E	374	ENSP00000325091:Q374E;ENSP00000439366:Q374E	ENSP00000325091:Q374E	Q	-	1	0	LRCH2	114306738	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.229000	0.95273	2.391000	0.81399	0.538000	0.68166	CAA	LRCH2	-	NULL	ENSG00000130224		0.353	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	143	0.69	1	G	NM_020871		114400482	114400482	-1	no_errors	ENST00000317135	ensembl	human	known	69_37n	missense	100	25.93	35	SNP	1.000	C
LRCH2	57631	genome.wustl.edu	37	X	114422891	114422891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:114422891C>T	ENST00000317135.8	-	2	422	c.392G>A	c.(391-393)tGg>tAg	p.W131*	LRCH2_ENST00000538422.1_Nonsense_Mutation_p.W131*|RBMXL3_ENST00000424776.3_5'Flank	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	131										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TGCAAATAACCAGACATCAGA	0.294																																						dbGAP											0													40.0	36.0	37.0					X																	114422891		1796	4062	5858	-	-	-	SO:0001587	stop_gained	0			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.392G>A	X.37:g.114422891C>T	ENSP00000325091:p.Trp131*		F5H2T1|Q08AD5|Q9HA88|Q9P233	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.W131*	ENST00000317135.8	37	c.392	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.278577	0.95459	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	.	.	.	4.85	4.85	0.62838	.	0.145674	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-4.784	9.4043	0.38451	0.0:0.8998:0.0:0.1002	.	.	.	.	X	131	.	ENSP00000325091:W131X	W	-	2	0	LRCH2	114329147	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	2.239000	0.73571	0.436000	0.28706	TGG	LRCH2	-	NULL	ENSG00000130224		0.294	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	32	0.00	0	C	NM_020871		114422891	114422891	-1	no_errors	ENST00000317135	ensembl	human	known	69_37n	nonsense	53	30.26	23	SNP	1.000	T
LRCH3	84859	genome.wustl.edu	37	3	197544069	197544069	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:197544069C>T	ENST00000425562.2	+	3	430	c.430C>T	c.(430-432)Ccg>Tcg	p.P144S	LRCH3_ENST00000414675.2_Missense_Mutation_p.P144S|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.P144S|LRCH3_ENST00000438796.2_Missense_Mutation_p.P144S			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	144						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTCAACATTGCCGGTACACTT	0.378																																						dbGAP											0													148.0	153.0	151.0					3																	197544069		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.430C>T	3.37:g.197544069C>T	ENSP00000393579:p.Pro144Ser		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.P144S	ENST00000425562.2	37	c.430		3	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956077	0.92726	.	.	ENSG00000186001	ENST00000438796;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63065	-0.6720	10	0.87932	D	0	-16.4558	18.8186	0.92088	0.0:1.0:0.0:0.0	.	144;144;144	B4E0T7;Q96II8-2;Q96II8-3	.;.;.	S	144	ENSP00000399751:P144S;ENSP00000394965:P144S;ENSP00000334375:P144S;ENSP00000393579:P144S	ENSP00000334375:P144S	P	+	1	0	LRCH3	199028466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.348000	0.79366	2.499000	0.84300	0.585000	0.79938	CCG	LRCH3	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000186001		0.378	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1	79	0.00	0	C	NM_032773		197544069	197544069	+1	no_errors	ENST00000438796	ensembl	human	known	69_37n	missense	56	40.43	38	SNP	1.000	T
LRIF1	55791	genome.wustl.edu	37	1	111494410	111494410	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:111494410G>A	ENST00000369763.4	-	2	1486	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTAGCCAACAGATAGACTTTC	0.393																																						dbGAP											0													131.0	135.0	134.0					1																	111494410		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1096C>T	1.37:g.111494410G>A			Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	NULL	p.L366	ENST00000369763.4	37	c.1096	CCDS30800.1	1																																																																																			LRIF1	-	NULL	ENSG00000121931		0.393	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	66	0.00	0	G	NM_018372		111494410	111494410	-1	no_errors	ENST00000369763	ensembl	human	known	69_37n	silent	35	41.67	25	SNP	1.000	A
LRIG2	9860	genome.wustl.edu	37	1	113650363	113650363	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:113650363G>C	ENST00000361127.5	+	12	1659	c.1461G>C	c.(1459-1461)ctG>ctC	p.L487L	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	487	LRRCT.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ATGTGGATCTGAAAGATTTTG	0.318																																						dbGAP											0													97.0	86.0	90.0					1																	113650363		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1461G>C	1.37:g.113650363G>C			Q9NSN2	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L487	ENST00000361127.5	37	c.1461	CCDS30808.1	1																																																																																			LRIG2	-	smart_Cys-rich_flank_reg_C	ENSG00000198799		0.318	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	39	0.00	0	G	NM_014813		113650363	113650363	+1	no_errors	ENST00000361127	ensembl	human	known	69_37n	silent	42	42.47	31	SNP	0.996	C
LRIT3	345193	genome.wustl.edu	37	4	110772999	110772999	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:110772999G>C	ENST00000594814.1	+	2	456	c.456G>C	c.(454-456)ctG>ctC	p.L152L	LRIT3_ENST00000327908.3_5'UTR|LRIT3_ENST00000379920.3_Silent_p.L107L	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	152					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCAGGTATCTGAAGAACCTTG	0.483																																						dbGAP											0													63.0	51.0	55.0					4																	110772999		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.456G>C	4.37:g.110772999G>C			C9J1C2|Q6ZTG1	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L107	ENST00000594814.1	37	c.321	CCDS3688.3	4																																																																																			LRIT3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000183423		0.483	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2	54	0.00	0	G	NM_198506		110772999	110772999	+1	no_errors	ENST00000379920	ensembl	human	known	69_37n	silent	50	30.56	22	SNP	0.999	C
LRP5	4041	genome.wustl.edu	37	11	68157416	68157416	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:68157416C>T	ENST00000294304.7	+	7	1586	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	494	Beta-propeller 2.		R -> Q (in OPPG). {ECO:0000269|PubMed:11719191, ECO:0000269|PubMed:16252235}.		adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGCAGGAGCGGCGTGTGCT	0.592																																						dbGAP											0													154.0	133.0	140.0					11																	68157416		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1480C>T	11.37:g.68157416C>T	ENSP00000294304:p.Arg494Trp		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R494W	ENST00000294304.7	37	c.1480	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585442	0.66105	.	.	ENSG00000162337	ENST00000294304	D	0.97665	-4.48	3.3	2.33	0.28932	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.44688	U	0.000438	D	0.98735	0.9575	H	0.96889	3.9	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.98417	1.0575	10	0.87932	D	0	.	9.6589	0.39943	0.5903:0.4096:0.0:0.0	.	494	O75197	LRP5_HUMAN	W	494	ENSP00000294304:R494W	ENSP00000294304:R494W	R	+	1	2	LRP5	67913992	0.995000	0.38212	0.992000	0.48379	0.989000	0.77384	2.399000	0.44495	0.910000	0.36722	0.555000	0.69702	CGG	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000162337		0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	71	0.00	0	C	NM_002335		68157416	68157416	+1	no_errors	ENST00000294304	ensembl	human	known	69_37n	missense	50	45.16	42	SNP	1.000	T
LRRC41	10489	genome.wustl.edu	37	1	46751338	46751338	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:46751338C>G	ENST00000343304.6	-	4	1476	c.1191G>C	c.(1189-1191)aaG>aaC	p.K397N	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	397					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGCACCCTTCTTCCCTGCAG	0.562																																						dbGAP											0													80.0	83.0	82.0					1																	46751338		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1191G>C	1.37:g.46751338C>G	ENSP00000343298:p.Lys397Asn		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.K397N	ENST00000343304.6	37	c.1191	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	c	14.02	2.410018	0.42715	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.51071	0.72	4.99	4.01	0.46588	.	0.185029	0.37761	N	0.001949	T	0.29588	0.0738	N	0.14661	0.345	0.33097	D	0.53866	B;B;B	0.32160	0.358;0.358;0.11	B;B;B	0.35971	0.154;0.215;0.051	T	0.41288	-0.9517	10	0.59425	D	0.04	-1.5904	5.8661	0.18775	0.0:0.6573:0.1556:0.1872	.	397;375;397	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	N	397;375	ENSP00000343298:K397N	ENSP00000343298:K397N	K	-	3	2	LRRC41	46523925	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.183000	0.42565	1.211000	0.43351	0.450000	0.29827	AAG	LRRC41	-	NULL	ENSG00000132128		0.562	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	85	0.00	0	C	NM_006369		46751338	46751338	-1	no_errors	ENST00000343304	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	1.000	G
LRRC48	83450	genome.wustl.edu	37	17	17887182	17887182	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:17887182G>C	ENST00000399187.1	+	4	419	c.201G>C	c.(199-201)ttG>ttC	p.L67F	LRRC48_ENST00000313838.8_Missense_Mutation_p.L67F|LRRC48_ENST00000411504.2_Missense_Mutation_p.L67F|LRRC48_ENST00000399182.1_Missense_Mutation_p.L67F|LRRC48_ENST00000584166.1_Missense_Mutation_p.L67F	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	67						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TTGAGAACTTGAGGAAGCTGC	0.498																																						dbGAP											0													143.0	143.0	143.0					17																	17887182		1986	4175	6161	-	-	-	SO:0001583	missense	0			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.201G>C	17.37:g.17887182G>C	ENSP00000382140:p.Leu67Phe		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	NULL	p.L67F	ENST00000399187.1	37	c.201	CCDS45622.1	17	.	.	.	.	.	.	.	.	.	.	g	18.63	3.666405	0.67814	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.21	2.03	0.26663	.	0.000000	0.64402	D	0.000001	T	0.62696	0.2449	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.60306	-0.7289	10	0.87932	D	0	-15.6362	4.2503	0.10691	0.0768:0.1385:0.499:0.2857	.	67;67	Q9H069;Q9H069-2	LRC48_HUMAN;.	F	67	ENSP00000326870:L67F;ENSP00000394020:L67F;ENSP00000382140:L67F;ENSP00000382136:L67F	ENSP00000326870:L67F	L	+	3	2	LRRC48	17827907	1.000000	0.71417	0.325000	0.25375	0.995000	0.86356	1.660000	0.37397	0.260000	0.21731	0.651000	0.88453	TTG	LRRC48	-	NULL	ENSG00000171962		0.498	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	62	0.00	0	G	NM_031294		17887182	17887182	+1	no_errors	ENST00000313838	ensembl	human	known	69_37n	missense	23	56.60	30	SNP	0.960	C
LRRC7	57554	genome.wustl.edu	37	1	70460285	70460285	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:70460285C>G	ENST00000035383.5	+	9	889	c.859C>G	c.(859-861)Caa>Gaa	p.Q287E	LRRC7_ENST00000310961.5_Missense_Mutation_p.Q292E|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	287						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGATGACAATCAACTTACAAT	0.338																																						dbGAP											0													107.0	111.0	109.0					1																	70460285		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.859C>G	1.37:g.70460285C>G	ENSP00000035383:p.Gln287Glu		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Q287E	ENST00000035383.5	37	c.859	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065184	0.76187	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.25579	1.79;1.81	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	L	0.35723	1.085	0.80722	D	1	P	0.52692	0.955	P	0.60012	0.867	T	0.01711	-1.1290	10	0.54805	T	0.06	.	18.5197	0.90947	0.0:1.0:0.0:0.0	.	287	Q96NW7	LRRC7_HUMAN	E	292;287;110	ENSP00000309245:Q292E;ENSP00000035383:Q287E	ENSP00000035383:Q287E	Q	+	1	0	LRRC7	70232873	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.123000	0.77176	2.698000	0.92095	0.655000	0.94253	CAA	LRRC7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000033122		0.338	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	67	0.00	0	C	NM_020794		70460285	70460285	+1	no_errors	ENST00000035383	ensembl	human	known	69_37n	missense	59	38.54	37	SNP	1.000	G
LRRC8A	56262	genome.wustl.edu	37	9	131670664	131670664	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:131670664C>T	ENST00000259324.5	+	3	1744	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	LRRC8A_ENST00000372600.4_Silent_p.L407L|LRRC8A_ENST00000372599.3_Silent_p.L407L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	407					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCTGAACCTCAACAACGAGT	0.587																																						dbGAP											0													77.0	69.0	72.0					9																	131670664		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1221C>T	9.37:g.131670664C>T			Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L407	ENST00000259324.5	37	c.1221	CCDS35155.1	9																																																																																			LRRC8A	-	NULL	ENSG00000136802		0.587	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	28	0.00	0	C	NM_019594		131670664	131670664	+1	no_errors	ENST00000259324	ensembl	human	known	69_37n	silent	25	37.50	15	SNP	1.000	T
LRRTM4	80059	genome.wustl.edu	37	2	77745755	77745755	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:77745755C>T	ENST00000409093.1	-	3	1576	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	LRRTM4_ENST00000409884.1_Missense_Mutation_p.E414K|LRRTM4_ENST00000409088.3_Missense_Mutation_p.E414K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E415K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.E415K			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	414					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TACTCTTGCTCTGCGCCAGGA	0.478																																						dbGAP											0													107.0	106.0	106.0					2																	77745755		1909	4129	6038	-	-	-	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1240G>A	2.37:g.77745755C>T	ENSP00000386357:p.Glu414Lys		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E415K	ENST00000409093.1	37	c.1243	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399273	0.62177	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.68	5.68	0.88126	.	0.496399	0.21896	N	0.067505	T	0.78052	0.4223	M	0.70275	2.135	0.46298	D	0.998972	P;P;P	0.46952	0.82;0.887;0.872	B;P;B	0.46825	0.328;0.528;0.301	T	0.74453	-0.3660	10	0.18710	T	0.47	.	18.3564	0.90358	0.0:1.0:0.0:0.0	.	415;414;414	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	K	415;414;414;414;415	ENSP00000387228:E415K;ENSP00000387297:E414K;ENSP00000386357:E414K;ENSP00000386236:E414K;ENSP00000386286:E415K	ENSP00000386236:E414K	E	-	1	0	LRRTM4	77599263	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	3.153000	0.50685	2.670000	0.90874	0.655000	0.94253	GAG	LRRTM4	-	NULL	ENSG00000176204		0.478	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	109	0.00	0	C	NM_024993		77745755	77745755	-1	no_errors	ENST00000409911	ensembl	human	known	69_37n	missense	78	42.22	57	SNP	1.000	T
LRSAM1	90678	genome.wustl.edu	37	9	130223478	130223478	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:130223478G>C	ENST00000323301.4	+	7	952	c.348G>C	c.(346-348)ctG>ctC	p.L116L	LRSAM1_ENST00000300417.6_Silent_p.L116L|LRSAM1_ENST00000373322.1_Silent_p.L116L|LRSAM1_ENST00000373324.4_Silent_p.L116L	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	116					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GGAATCAACTGATGCAGCTCC	0.542																																						dbGAP											0													110.0	103.0	105.0					9																	130223478		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.348G>C	9.37:g.130223478G>C			Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.L116	ENST00000323301.4	37	c.348	CCDS6873.1	9																																																																																			LRSAM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000148356		0.542	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	30	0.00	0	G	NM_138361		130223478	130223478	+1	no_errors	ENST00000300417	ensembl	human	known	69_37n	silent	24	42.86	18	SNP	1.000	C
LTBP1	4052	genome.wustl.edu	37	2	33482404	33482404	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:33482404C>T	ENST00000404816.2	+	12	2574	c.2221C>T	c.(2221-2223)Cat>Tat	p.H741Y	LTBP1_ENST00000407925.1_Missense_Mutation_p.H415Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.H415Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.H741Y|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000390003.4_Missense_Mutation_p.H415Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	741					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTCTGGCGTTCATAGACGCAG	0.423																																						dbGAP											0													107.0	97.0	101.0					2																	33482404		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2221C>T	2.37:g.33482404C>T	ENSP00000386043:p.His741Tyr		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.H741Y	ENST00000404816.2	37	c.2221	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756810	0.69648	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000407925;ENST00000468091	T;T;T;T;T;D	0.93488	-1.4;-1.39;-1.32;-1.29;-1.29;-3.23	5.91	5.91	0.95273	.	.	.	.	.	D	0.92903	0.7742	L	0.34521	1.04	0.80722	D	1	D;P;P;D	0.58620	0.961;0.952;0.952;0.983	P;P;P;P	0.51453	0.666;0.536;0.536;0.67	D	0.92436	0.5958	9	0.46703	T	0.11	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	415;415;415;741	E7EV71;Q14766-2;Q14766-5;Q14766-4	.;.;.;.	Y	741;741;415;415;415;58	ENSP00000386043:H741Y;ENSP00000346467:H741Y;ENSP00000374653:H415Y;ENSP00000393057:H415Y;ENSP00000384091:H415Y;ENSP00000417591:H58Y	ENSP00000346467:H741Y	H	+	1	0	LTBP1	33335908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.757000	0.55212	2.793000	0.96121	0.655000	0.94253	CAT	LTBP1	-	superfamily_TB_dom	ENSG00000049323		0.423	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	36	0.00	0	C	NM_206943		33482404	33482404	+1	no_errors	ENST00000354476	ensembl	human	known	69_37n	missense	49	38.75	31	SNP	1.000	T
LTF	4057	genome.wustl.edu	37	3	46496919	46496919	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:46496919G>C	ENST00000231751.4	-	5	808	c.513C>G	c.(511-513)ttC>ttG	p.F171L	LTF_ENST00000417439.1_Missense_Mutation_p.F171L|LTF_ENST00000426532.2_Missense_Mutation_p.F127L	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	171	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TGGCTGAGAAGAACCTGGCCA	0.577																																						dbGAP											0													93.0	75.0	81.0					3																	46496919		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.513C>G	3.37:g.46496919G>C	ENSP00000231751:p.Phe171Leu		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.F171L	ENST00000231751.4	37	c.513	CCDS33747.1	3	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384694	0.82792	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000431944	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.89	3.09	0.35607	.	0.250440	0.46145	D	0.000320	T	0.50837	0.1639	M	0.82517	2.595	0.53005	D	0.999968	B;B;B	0.29085	0.232;0.21;0.232	B;B;B	0.39119	0.291;0.237;0.291	T	0.52771	-0.8531	10	0.66056	D	0.02	-13.846	9.4236	0.38565	0.1762:0.0:0.8238:0.0	.	171;158;171	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	L	171;127;171;158;182	ENSP00000231751:F171L;ENSP00000405719:F127L;ENSP00000405546:F171L;ENSP00000397427:F158L;ENSP00000395234:F182L	ENSP00000231751:F171L	F	-	3	2	LTF	46471923	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	3.175000	0.50855	0.602000	0.29896	0.655000	0.94253	TTC	LTF	-	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	ENSG00000012223		0.577	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LTF	HGNC	protein_coding	OTTHUMT00000343951.2	94	0.00	0	G	NM_002343		46496919	46496919	-1	no_errors	ENST00000231751	ensembl	human	known	69_37n	missense	33	29.79	14	SNP	1.000	C
LYSMD1	388695	genome.wustl.edu	37	1	151133480	151133480	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:151133480C>T	ENST00000368908.5	-	3	1222	c.562G>A	c.(562-564)Gca>Aca	p.A188T	LYSMD1_ENST00000440902.2_Missense_Mutation_p.A140T	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	188										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGAGACCTGCATCCTCCCCA	0.577																																						dbGAP											0													83.0	75.0	77.0					1																	151133480		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.562G>A	1.37:g.151133480C>T	ENSP00000357904:p.Ala188Thr		B4DQA1|Q69YX9	Missense_Mutation	SNP	pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr	p.A188T	ENST00000368908.5	37	c.562	CCDS986.1	1	.	.	.	.	.	.	.	.	.	.	C	8.187	0.795242	0.16327	.	.	ENSG00000163155	ENST00000368908;ENST00000440902	T;T	0.34275	1.37;1.41	5.44	1.13	0.20643	.	1.108080	0.06771	N	0.783463	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.35773	-0.9775	10	0.15066	T	0.55	-10.4067	1.8749	0.03216	0.1879:0.4961:0.1303:0.1857	.	140;188	Q96S90-2;Q96S90	.;LYSM1_HUMAN	T	188;140	ENSP00000357904:A188T;ENSP00000404059:A140T	ENSP00000357904:A188T	A	-	1	0	LYSMD1	149400104	0.000000	0.05858	0.037000	0.18230	0.497000	0.33675	-0.915000	0.04033	0.210000	0.20664	-0.142000	0.14014	GCA	LYSMD1	-	NULL	ENSG00000163155		0.577	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYSMD1	HGNC	protein_coding	OTTHUMT00000034070.3	90	0.00	0	C	NM_212551		151133480	151133480	-1	no_errors	ENST00000368908	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	0.009	T
LYSMD3	116068	genome.wustl.edu	37	5	89821016	89821016	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:89821016C>G	ENST00000315948.6	-	2	235	c.91G>C	c.(91-93)Gat>Cat	p.D31H	LYSMD3_ENST00000500869.2_Missense_Mutation_p.D31H|LYSMD3_ENST00000509384.1_Missense_Mutation_p.D31H	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	31						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TCCAAAATATCACTGTCTGAA	0.403																																						dbGAP											0													125.0	113.0	117.0					5																	89821016		1904	4128	6032	-	-	-	SO:0001583	missense	0			BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.91G>C	5.37:g.89821016C>G	ENSP00000314518:p.Asp31His		Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr	p.D31H	ENST00000315948.6	37	c.91	CCDS43338.1	5	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286340	0.59867	.	.	ENSG00000176018;ENSG00000176018;ENSG00000176018;ENSG00000259141	ENST00000500869;ENST00000315948;ENST00000509384;ENST00000554351	T	0.27720	1.65	6.02	6.02	0.97574	.	0.047842	0.85682	D	0.000000	T	0.55000	0.1893	L	0.58101	1.795	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.99;0.963	T	0.43877	-0.9364	10	0.45353	T	0.12	-10.4012	20.547	0.99278	0.0:1.0:0.0:0.0	.	31;31;31	Q7Z3D4-3;Q7Z3D4-2;Q7Z3D4	.;.;LYSM3_HUMAN	H	31	ENSP00000314518:D31H	ENSP00000314518:D31H	D	-	1	0	AC027323.1;LYSMD3	89856772	1.000000	0.71417	0.120000	0.21714	0.039000	0.13416	7.061000	0.76699	2.850000	0.98022	0.650000	0.86243	GAT	LYSMD3	-	NULL	ENSG00000176018		0.403	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYSMD3	HGNC	protein_coding	OTTHUMT00000369987.2	77	0.00	0	C	XM_371760		89821016	89821016	-1	no_errors	ENST00000315948	ensembl	human	known	69_37n	missense	146	31.46	67	SNP	0.997	G
LZTS1	11178	genome.wustl.edu	37	8	20110692	20110692	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:20110692C>T	ENST00000381569.1	-	3	1107	c.750G>A	c.(748-750)tcG>tcA	p.S250S	LZTS1_ENST00000522290.1_Silent_p.S250S|LZTS1_ENST00000265801.6_Silent_p.S250S			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	250					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGCGGACACACGAGGGGCCCT	0.627																																						dbGAP											0													71.0	60.0	64.0					8																	20110692		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.750G>A	8.37:g.20110692C>T			D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	pfam_Fez1	p.S250	ENST00000381569.1	37	c.750	CCDS6015.1	8																																																																																			LZTS1	-	NULL	ENSG00000061337		0.627	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	17	0.00	0	C	NM_021020		20110692	20110692	-1	no_errors	ENST00000265801	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	0.001	T
MAGED1	9500	genome.wustl.edu	37	X	51638769	51638769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:51638769delC	ENST00000375722.1	+	3	918	c.666delC	c.(664-666)gacfs	p.D222fs	MAGED1_ENST00000326587.7_Frame_Shift_Del_p.D222fs|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Frame_Shift_Del_p.D278fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.D222fs			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	222					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTGAACCTGACGGTGCAACTG	0.547										Multiple Myeloma(10;0.10)																												dbGAP											0													23.0	19.0	21.0					X																	51638769		2202	4298	6500	-	-	-	SO:0001589	frameshift_variant	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.666delC	X.37:g.51638769delC	ENSP00000364874:p.Asp222fs		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Frame_Shift_Del	DEL	pfam_MAGE,pfscan_MAGE	p.D278fs	ENST00000375722.1	37	c.834	CCDS14337.1	X																																																																																			MAGED1	-	NULL	ENSG00000179222		0.547	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	25	0.00	0	C	NM_001005332		51638769	51638769	+1	no_errors	ENST00000375695	ensembl	human	known	69_37n	frame_shift_del	10	45.00	9	DEL	0.996	-
MAGI1	9223	genome.wustl.edu	37	3	65349277	65349277	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:65349277C>G	ENST00000497477.2	-	20	3156	c.3157G>C	c.(3157-3159)Gat>Cat	p.D1053H	MAGI1_ENST00000402939.2_Missense_Mutation_p.D1120H|MAGI1_ENST00000330909.8_Missense_Mutation_p.D1148H|MAGI1_ENST00000483466.1_Missense_Mutation_p.D1149H			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1149	Interaction with FCHSD2.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGTAAAAATCTTGCTCCTAT	0.413																																						dbGAP											0													61.0	64.0	63.0					3																	65349277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3157G>C	3.37:g.65349277C>G	ENSP00000424369:p.Asp1053His		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.D1120H	ENST00000497477.2	37	c.3358		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.606509|4.606509	0.87157|0.87157	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257|ENST00000460329	T;T;T;T;T;T|.	0.39406|.	1.08;1.08;1.08;1.08;1.08;1.08|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.050290|.	0.85682|.	D|.	0.000000|.	T|T	0.68723|0.68723	0.3032|0.3032	L|L	0.41961|0.41961	1.31|1.31	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.67145|.	0.996;0.987;0.973;0.985|.	D;P;P;D|.	0.71184|.	0.972;0.889;0.881;0.919|.	T|T	0.62487|0.62487	-0.6844|-0.6844	10|5	0.48119|.	T|.	0.1|.	-35.0098|-35.0098	20.02|20.02	0.97489|0.97489	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1053;1149;1120;1148|.	Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;.;.;.|.	H|N	1120;1148;1044;1024;1149;1053;907|1028	ENSP00000385450:D1120H;ENSP00000331157:D1148H;ENSP00000418177:D1024H;ENSP00000420323:D1149H;ENSP00000424369:D1053H;ENSP00000420796:D907H|.	ENSP00000331157:D1148H|.	D|K	-|-	1|3	0|2	MAGI1|MAGI1	65324317|65324317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	7.776000|7.776000	0.85560|0.85560	2.809000|2.809000	0.96659|0.96659	0.557000|0.557000	0.71058|0.71058	GAT|AAG	MAGI1	-	superfamily_PDZ	ENSG00000151276		0.413	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	23	0.00	0	C	NM_004742		65349277	65349277	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	G
MAGT1	84061	genome.wustl.edu	37	X	77084726	77084726	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:77084726C>T	ENST00000358075.6	-	10	1181	c.1095G>A	c.(1093-1095)ctG>ctA	p.L365L		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	333					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTAACTCATCAGAAAGCTGA	0.299																																						dbGAP											0													72.0	62.0	65.0					X																	77084726		2203	4289	6492	-	-	-	SO:0001819	synonymous_variant	0				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.1095G>A	X.37:g.77084726C>T			B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.L365	ENST00000358075.6	37	c.1095	CCDS14436.2	X																																																																																			MAGT1	-	NULL	ENSG00000102158		0.299	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057301.2	76	0.00	0	C	NM_032121		77084726	77084726	-1	no_errors	ENST00000358075	ensembl	human	known	69_37n	silent	120	38.46	75	SNP	1.000	T
MAMDC2	256691	genome.wustl.edu	37	9	72746489	72746489	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:72746489G>A	ENST00000377182.4	+	7	1572	c.955G>A	c.(955-957)Gat>Aat	p.D319N	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	319	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGCCCTGGATGATATTTCATT	0.413																																						dbGAP											0													288.0	249.0	262.0					9																	72746489		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.955G>A	9.37:g.72746489G>A	ENSP00000366387:p.Asp319Asn		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom	p.D319N	ENST00000377182.4	37	c.955	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.119959	0.94385	.	.	ENSG00000165072	ENST00000377182	T	0.03553	3.89	5.36	5.36	0.76844	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00647	-1.1628	10	0.72032	D	0.01	-19.1919	19.1265	0.93386	0.0:0.0:1.0:0.0	.	319	Q7Z304	MAMC2_HUMAN	N	319	ENSP00000366387:D319N	ENSP00000366387:D319N	D	+	1	0	MAMDC2	71936309	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	9.230000	0.95299	2.523000	0.85059	0.655000	0.94253	GAT	MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000165072		0.413	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	325	0.00	0	G	NM_153267		72746489	72746489	+1	no_errors	ENST00000377182	ensembl	human	known	69_37n	missense	166	36.88	97	SNP	1.000	A
MANBA	4126	genome.wustl.edu	37	4	103578871	103578871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:103578871G>A	ENST00000226578.4	-	12	1771	c.1672C>T	c.(1672-1674)Cag>Tag	p.Q558*	MANBA_ENST00000505239.1_Nonsense_Mutation_p.Q501*	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	558					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GGCCAGGACTGATATCCATAT	0.363																																						dbGAP											0													106.0	99.0	101.0					4																	103578871		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1672C>T	4.37:g.103578871G>A	ENSP00000226578:p.Gln558*		Q96BC3|Q9NYX9	Nonsense_Mutation	SNP	pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like	p.Q558*	ENST00000226578.4	37	c.1672	CCDS3658.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.598139	0.98381	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.16	18.8133	0.92068	0.0:0.0:1.0:0.0	.	.	.	.	X	558;501	.	ENSP00000226578:Q558X	Q	-	1	0	MANBA	103797919	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.339000	0.96797	2.438000	0.82558	0.650000	0.86243	CAG	MANBA	-	superfamily_Glycoside_hydrolase_SF	ENSG00000109323		0.363	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MANBA	HGNC	protein_coding	OTTHUMT00000253803.2	76	0.00	0	G			103578871	103578871	-1	no_errors	ENST00000226578	ensembl	human	known	69_37n	nonsense	43	60.55	66	SNP	1.000	A
MAP3K5	4217	genome.wustl.edu	37	6	136934281	136934281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:136934281G>A	ENST00000359015.4	-	17	2752	c.2392C>T	c.(2392-2394)Cag>Tag	p.Q798*	MAP3K5_ENST00000355845.4_Nonsense_Mutation_p.Q45*	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGAACTATCTGATTGTCATGG	0.363																																						dbGAP											0													160.0	149.0	153.0					6																	136934281		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2392C>T	6.37:g.136934281G>A	ENSP00000351908:p.Gln798*		A6NIA0|B4DGB2|Q5THN3|Q99461	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q798*	ENST00000359015.4	37	c.2392	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	43	9.890671	0.99289	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	.	.	.	5.67	5.67	0.87782	.	0.166463	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7547	0.96285	0.0:0.0:1.0:0.0	.	.	.	.	X	798;45;878	.	ENSP00000348104:Q45X	Q	-	1	0	MAP3K5	136975974	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.476000	0.97823	2.667000	0.90743	0.655000	0.94253	CAG	MAP3K5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000197442		0.363	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	103	0.00	0	G			136934281	136934281	-1	no_errors	ENST00000359015	ensembl	human	known	69_37n	nonsense	98	36.77	57	SNP	1.000	A
MAP4K4	9448	genome.wustl.edu	37	2	102441849	102441849	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:102441849C>T	ENST00000347699.4	+	5	375	c.375C>T	c.(373-375)ctC>ctT	p.L125L	MAP4K4_ENST00000425019.1_Silent_p.L125L|MAP4K4_ENST00000324219.4_Silent_p.L125L|MAP4K4_ENST00000413150.2_Silent_p.L125L|MAP4K4_ENST00000350878.4_Silent_p.L105L|MAP4K4_ENST00000456652.1_Silent_p.L125L|MAP4K4_ENST00000302217.5_Silent_p.L125L|MAP4K4_ENST00000350198.4_Silent_p.L125L	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGAACACACTCAAAGAAGACT	0.483																																						dbGAP											0													114.0	111.0	112.0					2																	102441849		1941	4129	6070	-	-	-	SO:0001819	synonymous_variant	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.375C>T	2.37:g.102441849C>T			O75172|Q9NST7	Silent	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.L125	ENST00000347699.4	37	c.375	CCDS56130.1	2																																																																																			MAP4K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000071054		0.483	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	142	0.00	0	C	NM_004834		102441849	102441849	+1	no_errors	ENST00000324219	ensembl	human	known	69_37n	silent	65	41.96	47	SNP	1.000	T
MAP9	79884	genome.wustl.edu	37	4	156281331	156281331	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:156281331C>T	ENST00000311277.4	-	7	1302	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T	AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000608092.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.A323T|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608406.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	347					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTTGAAGATGCTGTTGCACTG	0.308																																						dbGAP											0													100.0	99.0	99.0					4																	156281331		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1039G>A	4.37:g.156281331C>T	ENSP00000310593:p.Ala347Thr		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	NULL	p.A347T	ENST00000311277.4	37	c.1039	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	C	6.590	0.477294	0.12521	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.29917	2.3;3.06;1.55	5.3	3.47	0.39725	.	0.699799	0.13538	N	0.380436	T	0.17109	0.0411	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.26258	0.027;0.145;0.145	B;B;B	0.29176	0.025;0.099;0.099	T	0.19031	-1.0318	10	0.44086	T	0.13	-4.4257	9.2597	0.37605	0.1621:0.6808:0.1571:0.0	.	322;347;347	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	T	347;323;346;347	ENSP00000310593:A347T;ENSP00000427402:A323T;ENSP00000394048:A346T	ENSP00000310593:A347T	A	-	1	0	MAP9	156500781	0.005000	0.15991	0.017000	0.16124	0.001000	0.01503	2.042000	0.41222	1.364000	0.46038	-0.226000	0.12346	GCA	MAP9	-	NULL	ENSG00000164114		0.308	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	103	0.00	0	C	NM_001039580		156281331	156281331	-1	no_errors	ENST00000311277	ensembl	human	known	69_37n	missense	24	62.50	40	SNP	0.001	T
MARCH5	54708	genome.wustl.edu	37	10	94070920	94070920	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:94070920G>A	ENST00000358935.2	+	2	396	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	22					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGCTACTGATGAAGATGATAG	0.433																																						dbGAP											0													103.0	97.0	99.0					10																	94070920		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.64G>A	10.37:g.94070920G>A	ENSP00000351813:p.Glu22Lys			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E22K	ENST00000358935.2	37	c.64	CCDS7420.1	10	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269822	0.80469	.	.	ENSG00000198060	ENST00000358935	T	0.30981	1.51	5.46	5.46	0.80206	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	L	0.58669	1.825	0.80722	D	1	B	0.27068	0.167	B	0.27608	0.081	T	0.09058	-1.0692	10	0.39692	T	0.17	-13.9382	19.306	0.94163	0.0:0.0:1.0:0.0	.	22	Q9NX47	MARH5_HUMAN	K	22	ENSP00000351813:E22K	ENSP00000351813:E22K	E	+	1	0	MARCH5	94060900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.636000	0.83301	2.559000	0.86315	0.655000	0.94253	GAA	MARCH5	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	ENSG00000198060		0.433	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH5	HGNC	protein_coding	OTTHUMT00000049388.1	74	0.00	0	G	NM_017824		94070920	94070920	+1	no_errors	ENST00000358935	ensembl	human	known	69_37n	missense	48	42.86	36	SNP	1.000	A
MARCH5	54708	genome.wustl.edu	37	10	94070926	94070926	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:94070926G>C	ENST00000358935.2	+	2	402	c.70G>C	c.(70-72)Gat>Cat	p.D24H	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	24					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGATGAAGATGATAGAACAGC	0.438																																						dbGAP											0													108.0	102.0	104.0					10																	94070926		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.70G>C	10.37:g.94070926G>C	ENSP00000351813:p.Asp24His			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.D24H	ENST00000358935.2	37	c.70	CCDS7420.1	10	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660017	0.88154	.	.	ENSG00000198060	ENST00000358935	T	0.44482	0.92	5.46	5.46	0.80206	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.74893	-0.3509	10	0.72032	D	0.01	-6.6589	19.306	0.94163	0.0:0.0:1.0:0.0	.	24	Q9NX47	MARH5_HUMAN	H	24	ENSP00000351813:D24H	ENSP00000351813:D24H	D	+	1	0	MARCH5	94060906	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.559000	0.86315	0.655000	0.94253	GAT	MARCH5	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	ENSG00000198060		0.438	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH5	HGNC	protein_coding	OTTHUMT00000049388.1	74	0.00	0	G	NM_017824		94070926	94070926	+1	no_errors	ENST00000358935	ensembl	human	known	69_37n	missense	58	33.33	29	SNP	1.000	C
MARCH5	54708	genome.wustl.edu	37	10	94071041	94071041	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:94071041G>C	ENST00000358935.2	+	2	517	c.185G>C	c.(184-186)aGa>aCa	p.R62T	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	62					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGTACAGCCAGAGTGGCATGT	0.413																																						dbGAP											0													69.0	56.0	61.0					10																	94071041		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.185G>C	10.37:g.94071041G>C	ENSP00000351813:p.Arg62Thr			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R62T	ENST00000358935.2	37	c.185	CCDS7420.1	10	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730259	0.30684	.	.	ENSG00000198060	ENST00000358935	T	0.40225	1.04	5.61	5.61	0.85477	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	N	0.12831	0.26	0.80722	D	1	B	0.09022	0.002	B	0.17098	0.017	T	0.09058	-1.0692	10	0.16896	T	0.51	-13.2497	19.6306	0.95700	0.0:0.0:1.0:0.0	.	62	Q9NX47	MARH5_HUMAN	T	62	ENSP00000351813:R62T	ENSP00000351813:R62T	R	+	2	0	MARCH5	94061021	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.576000	0.82467	2.629000	0.89072	0.655000	0.94253	AGA	MARCH5	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	ENSG00000198060		0.413	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH5	HGNC	protein_coding	OTTHUMT00000049388.1	50	0.00	0	G	NM_017824		94071041	94071041	+1	no_errors	ENST00000358935	ensembl	human	known	69_37n	missense	32	49.21	31	SNP	1.000	C
MAS1L	116511	genome.wustl.edu	37	6	29454978	29454978	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:29454978G>C	ENST00000377127.3	-	1	760	c.702C>G	c.(700-702)atC>atG	p.I234M		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	234					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CAAGTGAAAGGATAGCATGGA	0.438																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											0													46.0	48.0	47.0					6																	29454978		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.702C>G	6.37:g.29454978G>C	ENSP00000366331:p.Ile234Met		Q5SUN5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.I234M	ENST00000377127.3	37	c.702	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	G	1.824	-0.471467	0.04445	.	.	ENSG00000204687	ENST00000377127	T	0.74209	-0.82	1.63	-3.25	0.05079	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.49304	0.1549	N	0.25485	0.75	0.09310	N	1	B	0.22003	0.063	P	0.47118	0.538	T	0.66937	-0.5797	9	0.52906	T	0.07	.	1.4676	0.02409	0.2013:0.1888:0.4214:0.1885	.	234	P35410	MAS1L_HUMAN	M	234	ENSP00000366331:I234M	ENSP00000366331:I234M	I	-	3	3	MAS1L	29562957	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.300000	0.02751	-1.519000	0.01775	-2.336000	0.00247	ATC	MAS1L	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204687		0.438	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	12	0.00	0	G	NM_052967		29454978	29454978	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	missense	24	51.02	25	SNP	0.000	C
MAST2	23139	genome.wustl.edu	37	1	46494578	46494578	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:46494578G>C	ENST00000361297.2	+	18	2474	c.2191G>C	c.(2191-2193)Gag>Cag	p.E731Q	MAST2_ENST00000372009.2_Missense_Mutation_p.E661Q	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGATACTCCGGAGGAGCTCTT	0.557																																						dbGAP											0													177.0	177.0	177.0					1																	46494578		1977	4177	6154	-	-	-	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2191G>C	1.37:g.46494578G>C	ENSP00000354671:p.Glu731Gln			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E731Q	ENST00000361297.2	37	c.2191	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718287	0.89205	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.65178	-0.14;-0.14;-0.14	4.24	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70159	0.3192	L	0.31420	0.93	0.80722	D	1	D;P;D;D	0.89917	0.989;0.767;1.0;1.0	D;P;D;D	0.87578	0.969;0.574;0.998;0.995	T	0.75468	-0.3307	10	0.87932	D	0	-18.5334	16.9858	0.86339	0.0:0.0:1.0:0.0	.	661;405;661;731	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	Q	731;661;405;616	ENSP00000354671:E731Q;ENSP00000361079:E661Q;ENSP00000361078:E616Q	ENSP00000354671:E731Q	E	+	1	0	MAST2	46267165	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.809000	0.99208	2.045000	0.60652	0.561000	0.74099	GAG	MAST2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000086015		0.557	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	170	0.00	0	G	NM_015112		46494578	46494578	+1	no_errors	ENST00000361297	ensembl	human	known	69_37n	missense	148	32.73	72	SNP	1.000	C
MBD3	53615	genome.wustl.edu	37	19	1582691	1582691	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:1582691C>T	ENST00000434436.3	-	4	558	c.429G>A	c.(427-429)ctG>ctA	p.L143L	MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000590550.2_Silent_p.L87L|UQCR11_ENST00000585937.1_3'UTR|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Silent_p.L111L|MBD3_ENST00000156825.1_Silent_p.L143L	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	143					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGGCCGCTCAGCTTCTTCT	0.637																																						dbGAP											0													63.0	52.0	56.0					19																	1582691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.429G>A	19.37:g.1582691C>T			A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.L143	ENST00000434436.3	37	c.429	CCDS12072.1	19																																																																																			MBD3	-	NULL	ENSG00000071655		0.637	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	19	0.00	0	C	NM_003926		1582691	1582691	-1	no_errors	ENST00000156825	ensembl	human	known	69_37n	silent	8	42.86	6	SNP	0.987	T
MCF2L2	23101	genome.wustl.edu	37	3	182994746	182994746	+	Splice_Site	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:182994746C>G	ENST00000328913.3	-	15	2074		c.e15-1		MCF2L2_ENST00000447025.2_Splice_Site|MCF2L2_ENST00000473233.1_Splice_Site|MCF2L2_ENST00000414362.2_Splice_Site	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTTCTTCACTCTGAAGTGAAA	0.438																																						dbGAP											0													22.0	22.0	22.0					3																	182994746		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1777-1G>C	3.37:g.182994746C>G			O94942|Q6P2B8|Q6ZVJ5|Q8N318	Splice_Site	SNP	-	e15-1	ENST00000328913.3	37	c.1777-1	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365088	0.24684	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8254	0.63348	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCF2L2	184477440	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	3.075000	0.50073	2.727000	0.93392	0.585000	0.79938	.	MCF2L2	-	-	ENSG00000053524		0.438	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	10	0.00	0	C	NM_015078	Intron	182994746	182994746	-1	no_errors	ENST00000328913	ensembl	human	known	69_37n	splice_site	5	44.44	4	SNP	1.000	G
MDM1	56890	genome.wustl.edu	37	12	68707513	68707513	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:68707513G>C	ENST00000303145.7	-	10	1606	c.1520C>G	c.(1519-1521)tCa>tGa	p.S507*	MDM1_ENST00000411698.2_Nonsense_Mutation_p.S472*|MDM1_ENST00000540418.1_Nonsense_Mutation_p.S227*	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	507					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TCCTTTTTCTGAGGATACAGA	0.408																																						dbGAP											0													69.0	75.0	73.0					12																	68707513		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1520C>G	12.37:g.68707513G>C	ENSP00000302537:p.Ser507*		B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Nonsense_Mutation	SNP	NULL	p.S507*	ENST00000303145.7	37	c.1520	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.268823	0.97426	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	.	.	.	4.98	4.98	0.66077	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.6138	17.6269	0.88096	0.0:0.0:1.0:0.0	.	.	.	.	X	227;507;472	.	.	S	-	2	0	MDM1	66993780	1.000000	0.71417	0.975000	0.42487	0.691000	0.40173	4.086000	0.57664	2.481000	0.83766	0.484000	0.47621	TCA	MDM1	-	NULL	ENSG00000111554		0.408	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	33	0.00	0	G	NM_020128		68707513	68707513	-1	no_errors	ENST00000303145	ensembl	human	known	69_37n	nonsense	23	36.11	13	SNP	1.000	C
MDN1	23195	genome.wustl.edu	37	6	90380739	90380739	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:90380739C>G	ENST00000369393.3	-	83	13970	c.13855G>C	c.(13855-13857)Gac>Cac	p.D4619H	MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Missense_Mutation_p.D4619H|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4619					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.D4619Y(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGACGAGGTCTGAGTAGCTG	0.522																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											84.0	75.0	78.0					6																	90380739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13855G>C	6.37:g.90380739C>G	ENSP00000358400:p.Asp4619His		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D4619H	ENST00000369393.3	37	c.13855	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526538	0.64860	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03301	3.98;3.98	6.02	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.03348	0.0097	L	0.55990	1.75	0.48087	D	0.999582	D	0.54397	0.966	P	0.52031	0.688	T	0.55560	-0.8122	10	0.13470	T	0.59	.	12.312	0.54933	0.0:0.865:0.0:0.135	.	4619	Q9NU22	MDN1_HUMAN	H	4619	ENSP00000358400:D4619H;ENSP00000413970:D4619H	ENSP00000358400:D4619H	D	-	1	0	MDN1	90437460	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	4.784000	0.62411	1.570000	0.49709	0.655000	0.94253	GAC	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin	ENSG00000112159		0.522	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	41	0.00	0	C			90380739	90380739	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	0.999	G
ME2	4200	genome.wustl.edu	37	18	48458669	48458669	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr18:48458669G>A	ENST00000321341.5	+	13	1628	c.1356G>A	c.(1354-1356)gtG>gtA	p.V452V	ME2_ENST00000382927.3_Silent_p.V452V|ME2_ENST00000585680.1_3'UTR	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	452					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTGGGCCAGTGAAACTTACAG	0.363																																						dbGAP											0													132.0	129.0	130.0					18																	48458669		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1356G>A	18.37:g.48458669G>A			B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Silent	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.V452	ENST00000321341.5	37	c.1356	CCDS11948.1	18																																																																																			ME2	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd	ENSG00000082212		0.363	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	80	0.00	0	G	NM_002396		48458669	48458669	+1	no_errors	ENST00000321341	ensembl	human	known	69_37n	silent	32	64.44	58	SNP	1.000	A
ME3	10873	genome.wustl.edu	37	11	86198464	86198464	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:86198464G>C	ENST00000393324.3	-	6	977	c.724C>G	c.(724-726)Ctg>Gtg	p.L242V	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.L180V|ME3_ENST00000359636.2_Missense_Mutation_p.L242V|ME3_ENST00000543262.1_Missense_Mutation_p.L242V|ME3_ENST00000525957.1_5'UTR	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	242					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CCGATGTACAGAGGGTCTCTG	0.502																																						dbGAP											0													110.0	91.0	97.0					11																	86198464		2202	4299	6501	-	-	-	SO:0001583	missense	0			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.724C>G	11.37:g.86198464G>C	ENSP00000376998:p.Leu242Val		B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.L242V	ENST00000393324.3	37	c.724	CCDS8277.1	11	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761917	0.49468	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.44	4.53	0.55603	Malic enzyme, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.55146	0.1902	M	0.84326	2.69	0.58432	D	0.999994	P	0.35272	0.493	B	0.39771	0.309	T	0.57394	-0.7819	9	.	.	.	.	13.0541	0.58969	0.0792:0.0:0.9208:0.0	.	242	Q16798	MAON_HUMAN	V	242;242;242;242;180;180	ENSP00000352657:L242V;ENSP00000440246:L242V;ENSP00000376998:L242V;ENSP00000431182:L242V;ENSP00000315255:L180V	.	L	-	1	2	ME3	85876112	0.995000	0.38212	0.993000	0.49108	0.856000	0.48823	2.207000	0.42788	1.279000	0.44446	0.655000	0.94253	CTG	ME3	-	pfam_Malic_N	ENSG00000151376		0.502	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME3	HGNC	protein_coding	OTTHUMT00000393767.2	81	0.00	0	G			86198464	86198464	-1	no_errors	ENST00000359636	ensembl	human	known	69_37n	missense	30	36.17	17	SNP	0.990	C
MECOM	2122	genome.wustl.edu	37	3	168845834	168845834	+	Missense_Mutation	SNP	G	G	A	rs149892422		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:168845834G>A	ENST00000464456.1	-	4	1264	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	MECOM_ENST00000494292.1_Missense_Mutation_p.R210C|MECOM_ENST00000472280.1_Missense_Mutation_p.R22C|MECOM_ENST00000460814.1_Missense_Mutation_p.R22C|MECOM_ENST00000392736.3_Missense_Mutation_p.R22C|MECOM_ENST00000264674.3_Missense_Mutation_p.R86C|MECOM_ENST00000468789.1_Missense_Mutation_p.R22C|MECOM_ENST00000433243.2_Missense_Mutation_p.R22C	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R22C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTTCGCAGCGATATTGCCGT	0.423																																						dbGAP											1	Substitution - Missense(1)	skin(1)											111.0	107.0	108.0					3																	168845834		2203	4300	6503	-	-	-	SO:0001583	missense	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.64C>T	3.37:g.168845834G>A	ENSP00000419770:p.Arg22Cys		Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.R210C	ENST00000464456.1	37	c.628	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750111	0.69533	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000484519;ENST00000460890;ENST00000487503;ENST00000494597;ENST00000475754;ENST00000481315	T;T;T;T;T;T;T;T;T;T;T;T;T	0.54071	2.91;3.23;3.2;3.35;2.91;3.23;3.2;3.35;0.59;0.59;0.59;0.59;0.59	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.404642	0.22033	N	0.065573	T	0.69540	0.3122	L	0.54863	1.705	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999	D;P;D;P;D	0.69307	0.917;0.897;0.963;0.897;0.916	T	0.71513	-0.4570	10	0.87932	D	0	-9.6938	19.2552	0.93943	0.0:0.0:1.0:0.0	.	210;22;210;86;22	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	C	86;22;22;22;210;22;22;22;22;22;22;22;22;22	ENSP00000264674:R86C;ENSP00000376493:R22C;ENSP00000419770:R22C;ENSP00000420048:R22C;ENSP00000417899:R210C;ENSP00000419995:R22C;ENSP00000420466:R22C;ENSP00000394302:R22C;ENSP00000417299:R22C;ENSP00000417922:R22C;ENSP00000419757:R22C;ENSP00000420072:R22C;ENSP00000418828:R22C	ENSP00000264674:R86C	R	-	1	0	MECOM	170328528	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.550000	0.86006	0.561000	0.74099	CGC	MECOM	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000085276		0.423	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	50	0.00	0	G	NM_005241, NM_004991		168845834	168845834	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	1.000	A
MEIS2	4212	genome.wustl.edu	37	15	37390168	37390168	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:37390168C>T	ENST00000561208.1	-	2	663	c.245G>A	c.(244-246)gGg>gAg	p.G82E	MEIS2_ENST00000382766.2_Splice_Site_p.G82E|MEIS2_ENST00000340545.5_Splice_Site_p.G69E|MEIS2_ENST00000397624.3_Splice_Site_p.A2T|MEIS2_ENST00000338564.5_Splice_Site_p.G82E|MEIS2_ENST00000559085.1_Splice_Site_p.G69E|MEIS2_ENST00000559561.1_Splice_Site_p.G82E|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000424352.2_Splice_Site_p.G82E|MEIS2_ENST00000397620.2_Splice_Site_p.A2T|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000557796.2_Splice_Site_p.G69E|MEIS2_ENST00000444725.1_Splice_Site_p.G82E			O14770	MEIS2_HUMAN	Meis homeobox 2	82	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GTCAGTTTACCCATAGATCGC	0.597																																						dbGAP											0													59.0	52.0	54.0					15																	37390168		2201	4297	6498	-	-	-	SO:0001630	splice_region_variant	0			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.245+1G>A	15.37:g.37390168C>T			A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G82E	ENST00000561208.1	37	c.245	CCDS10044.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.859906|4.859906	0.91433|0.91433	.|.	.|.	ENSG00000134138|ENSG00000134138	ENST00000397620|ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	D|T;T;T;T;T;T	0.91577|0.32272	-2.87|1.46;1.54;1.54;1.46;1.46;1.46	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49355|0.49355	0.1552|0.1552	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	D|D;D;D;P;P;P	0.69078|0.89917	0.997|1.0;1.0;0.985;0.917;0.793;0.864	D|D;D;P;P;B;B	0.83275|0.91635	0.996|0.995;0.999;0.901;0.584;0.295;0.38	T|T	0.34576|0.34576	-0.9823|-0.9823	8|9	.|.	.|.	.|.	-3.4696|-3.4696	14.9859|14.9859	0.71348|0.71348	0.1431:0.8569:0.0:0.0|0.1431:0.8569:0.0:0.0	.|.	2|69;82;82;82;82;69	B3KPQ6|Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.|.;.;MEIS2_HUMAN;.;.;.	T|E	2|82;82;82;82;82;69;69	ENSP00000380745:A2T|ENSP00000326296:G82E;ENSP00000341400:G82E;ENSP00000372216:G82E;ENSP00000404185:G82E;ENSP00000391887:G82E;ENSP00000339549:G69E	.|.	A|G	-|-	1|2	0|0	MEIS2|MEIS2	35177460|35177460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.677000|5.677000	0.68142|0.68142	2.568000|2.568000	0.86640|0.86640	0.655000|0.655000	0.94253|0.94253	GCT|GGG	MEIS2	-	NULL	ENSG00000134138		0.597	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	25	0.00	0	C	NM_170677	Missense_Mutation	37390168	37390168	-1	no_errors	ENST00000561208	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	1.000	T
MFAP1	4236	genome.wustl.edu	37	15	44105533	44105533	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:44105533C>G	ENST00000267812.3	-	5	872	c.640G>C	c.(640-642)Gaa>Caa	p.E214Q		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	214					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCTTCACGTTCTTGAACTGTC	0.512																																						dbGAP											0													293.0	249.0	264.0					15																	44105533		2198	4298	6496	-	-	-	SO:0001583	missense	0				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.640G>C	15.37:g.44105533C>G	ENSP00000267812:p.Glu214Gln		Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.E214Q	ENST00000267812.3	37	c.640	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037586	0.93630	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.74	5.74	0.90152	.	0.099752	0.64402	D	0.000003	T	0.82019	0.4946	M	0.82716	2.605	0.80722	D	1	D	0.59767	0.986	P	0.60117	0.869	T	0.81208	-0.1037	9	0.42905	T	0.14	-12.4129	19.9085	0.97016	0.0:1.0:0.0:0.0	.	214	P55081	MFAP1_HUMAN	Q	214	.	ENSP00000267812:E214Q	E	-	1	0	MFAP1	41892825	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.356000	0.79445	2.873000	0.98535	0.563000	0.77884	GAA	MFAP1	-	pfam_MFAP1_C	ENSG00000140259		0.512	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	134	0.00	0	C	NM_005926		44105533	44105533	-1	no_errors	ENST00000267812	ensembl	human	known	69_37n	missense	114	45.97	97	SNP	1.000	G
MEGF11	84465	genome.wustl.edu	37	15	66206157	66206157	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:66206157C>G	ENST00000409699.2	-	20	2800	c.2628G>C	c.(2626-2628)caG>caC	p.Q876H	MEGF11_ENST00000288745.3_Missense_Mutation_p.Q801H|MEGF11_ENST00000395614.1_Missense_Mutation_p.Q49H|MEGF11_ENST00000395625.2_Missense_Mutation_p.Q801H|MEGF11_ENST00000422354.1_Missense_Mutation_p.Q876H|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000360698.4_3'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	876					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CCTTCTCTTTCTGCCGCCGCC	0.607																																						dbGAP											0													51.0	47.0	48.0					15																	66206157		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2628G>C	15.37:g.66206157C>G	ENSP00000386908:p.Gln876His		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain	p.Q876H	ENST00000409699.2	37	c.2628	CCDS10213.2	15	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622790	0.46840	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000395614	D;D;D;D;T	0.87650	-2.28;-2.16;-2.28;-2.16;0.81	4.65	-0.864	0.10666	.	0.000000	0.38720	U	0.001600	T	0.80999	0.4732	M	0.68593	2.085	0.80722	D	1	B;B	0.25272	0.043;0.122	B;B	0.24848	0.025;0.056	T	0.65096	-0.6251	10	0.25106	T	0.35	.	6.0824	0.19948	0.0:0.5331:0.2507:0.2163	.	876;801	A6BM72;A6BM72-2	MEG11_HUMAN;.	H	876;801;876;801;49	ENSP00000386908:Q876H;ENSP00000288745:Q801H;ENSP00000414475:Q876H;ENSP00000378987:Q801H;ENSP00000378976:Q49H	ENSP00000288745:Q801H	Q	-	3	2	MEGF11	63993211	1.000000	0.71417	0.551000	0.28230	0.987000	0.75469	1.839000	0.39220	-0.336000	0.08438	0.555000	0.69702	CAG	MEGF11	-	NULL	ENSG00000157890		0.607	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	HGNC	protein_coding	OTTHUMT00000329307.2	51	0.00	0	C	NM_032445		66206157	66206157	-1	no_errors	ENST00000409699	ensembl	human	known	69_37n	missense	20	41.18	14	SNP	0.999	G
MFSD9	84804	genome.wustl.edu	37	2	103353179	103353179	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:103353179C>T	ENST00000258436.5	-	1	134	c.91G>A	c.(91-93)Gag>Aag	p.E31K	TMEM182_ENST00000409173.1_5'Flank|TMEM182_ENST00000409528.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	31					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCCTCCGCCTCGGTTCCTGTC	0.672																																						dbGAP											0													33.0	39.0	37.0					2																	103353179		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.91G>A	2.37:g.103353179C>T	ENSP00000258436:p.Glu31Lys		Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG,pfscan_MFS_dom	p.E31K	ENST00000258436.5	37	c.91	CCDS2063.1	2	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583560	0.46006	.	.	ENSG00000135953	ENST00000258436	T	0.64803	-0.12	3.76	2.86	0.33363	Major facilitator superfamily domain, general substrate transporter (1);	0.851134	0.09753	N	0.760271	T	0.36413	0.0966	N	0.19112	0.55	0.09310	N	1	P	0.39404	0.672	B	0.22880	0.042	T	0.04693	-1.0933	10	0.07813	T	0.8	.	10.2839	0.43556	0.0:0.5558:0.4442:0.0	.	31	Q8NBP5	MFSD9_HUMAN	K	31	ENSP00000258436:E31K	ENSP00000258436:E31K	E	-	1	0	MFSD9	102719611	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	-0.273000	0.08548	0.885000	0.36088	0.555000	0.69702	GAG	MFSD9	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000135953		0.672	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD9	HGNC	protein_coding	OTTHUMT00000253295.2	11	0.00	0	C	NM_032718		103353179	103353179	-1	no_errors	ENST00000258436	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.005	T
MGEA5	10724	genome.wustl.edu	37	10	103552685	103552685	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:103552685C>G	ENST00000361464.3	-	12	2481	c.2086G>C	c.(2086-2088)Gat>Cat	p.D696H	MGEA5_ENST00000357797.5_Intron|MGEA5_ENST00000439817.1_Missense_Mutation_p.D643H|MGEA5_ENST00000482611.1_5'UTR	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	696					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTTGCCCCATCAATTGGCAGC	0.408																																						dbGAP											0													127.0	124.0	125.0					10																	103552685		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2086G>C	10.37:g.103552685C>G	ENSP00000354850:p.Asp696His		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase	p.D696H	ENST00000361464.3	37	c.2086	CCDS7520.1	10	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149256	0.57151	.	.	ENSG00000198408	ENST00000439817;ENST00000361464	T;T	0.34859	1.34;1.34	5.62	5.62	0.85841	.	0.173315	0.56097	D	0.000033	T	0.41213	0.1149	L	0.58101	1.795	0.80722	D	1	B;D	0.56746	0.018;0.977	B;B	0.43508	0.005;0.422	T	0.38329	-0.9666	10	0.56958	D	0.05	-19.9911	18.2041	0.89848	0.0:1.0:0.0:0.0	.	643;696	E9PGF9;O60502	.;NCOAT_HUMAN	H	643;696	ENSP00000409973:D643H;ENSP00000354850:D696H	ENSP00000354850:D696H	D	-	1	0	MGEA5	103542675	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.445000	0.80570	2.809000	0.96659	0.655000	0.94253	GAT	MGEA5	-	NULL	ENSG00000198408		0.408	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	HGNC	protein_coding	OTTHUMT00000049987.1	43	0.00	0	C	NM_012215		103552685	103552685	-1	no_errors	ENST00000361464	ensembl	human	known	69_37n	missense	70	41.80	51	SNP	1.000	G
MIOS	54468	genome.wustl.edu	37	7	7612672	7612672	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:7612672C>G	ENST00000340080.4	+	4	987	c.566C>G	c.(565-567)tCt>tGt	p.S189C	MIOS_ENST00000405785.1_Missense_Mutation_p.S189C	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	189						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTTGTCTGTCTCTTTGTTGG	0.393																																						dbGAP											0													47.0	44.0	45.0					7																	7612672		1906	4135	6041	-	-	-	SO:0001583	missense	0				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.566C>G	7.37:g.7612672C>G	ENSP00000339881:p.Ser189Cys		B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	smart_WD40_repeat	p.S189C	ENST00000340080.4	37	c.566	CCDS43554.1	7	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071979	0.76301	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.67698	-0.28;-0.28	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82935	0.5145	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82406	-0.0473	10	0.59425	D	0.04	-20.4494	20.5471	0.99284	0.0:1.0:0.0:0.0	.	189	Q9NXC5	MIO_HUMAN	C	189	ENSP00000339881:S189C;ENSP00000384088:S189C	ENSP00000339881:S189C	S	+	2	0	MIOS	7579197	1.000000	0.71417	0.966000	0.40874	0.952000	0.60782	7.434000	0.80377	2.941000	0.99782	0.655000	0.94253	TCT	MIOS	-	smart_WD40_repeat	ENSG00000164654		0.393	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOS	HGNC	protein_coding	OTTHUMT00000326218.1	15	0.00	0	C	NM_019005		7612672	7612672	+1	no_errors	ENST00000340080	ensembl	human	known	69_37n	missense	27	52.63	30	SNP	1.000	G
ASH1L	55870	genome.wustl.edu	37	1	155316158	155316158	+	Intron	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:155316158C>G	ENST00000368346.3	-	21	8545				ASH1L_ENST00000392403.3_Intron|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)						cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGAGTTTTATCAGAGGTTCAG	0.473																																						dbGAP											0													184.0	157.0	166.0					1																	155316158		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7905+15G>C	1.37:g.155316158C>G			Q59GP1|Q5T714|Q5T715|Q9P2C7	RNA	SNP	-	NULL	ENST00000368346.3	37	NULL		1																																																																																			MIR555	-	-	ENSG00000207720		0.473	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MIR555	HGNC	protein_coding	OTTHUMT00000039400.1	84	0.00	0	C	NM_018489		155316158	155316158	-1	no_errors	ENST00000384987	ensembl	human	known	69_37n	rna	98	26.32	35	SNP	0.000	G
TMEM258	746	genome.wustl.edu	37	11	61559992	61559992	+	Intron	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:61559992C>T	ENST00000537328.1	-	1	55				TMEM258_ENST00000543510.1_5'UTR|FADS2_ENST00000574708.1_5'Flank|MIR611_ENST00000384869.1_RNA|FEN1_ENST00000305885.2_5'Flank|TMEM258_ENST00000535042.1_5'Flank	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)											GAGGGGTCCTCGCATCTCCGT	0.647																																						dbGAP											0													57.0	59.0	59.0					11																	61559992		2202	4299	6501	-	-	-	SO:0001627	intron_variant	0				CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 10"""	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172	ENST00000537328.1:c.3+35G>A	11.37:g.61559992C>T			A8K6L8|Q9D953|Q9Y2Q7	RNA	SNP	-	NULL	ENST00000537328.1	37	NULL	CCDS8009.1	11																																																																																			MIR611	-	-	ENSG00000207601		0.647	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR611	HGNC	protein_coding	OTTHUMT00000398577.1	13	0.00	0	C	NM_014206		61559992	61559992	-1	no_errors	ENST00000384869	ensembl	human	known	69_37n	rna	11	57.69	15	SNP	0.001	T
MIS18BP1	55320	genome.wustl.edu	37	14	45716461	45716461	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:45716461C>G	ENST00000310806.4	-	2	487	c.29G>C	c.(28-30)aGa>aCa	p.R10T		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	10					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TAAGTAAATTCTTGAATGTTT	0.373																																						dbGAP											0													54.0	52.0	52.0					14																	45716461		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.29G>C	14.37:g.45716461C>G	ENSP00000309790:p.Arg10Thr		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R10T	ENST00000310806.4	37	c.29	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	C	6.868	0.529541	0.13127	.	.	ENSG00000129534	ENST00000310806;ENST00000451174	T	0.17854	2.25	5.28	1.99	0.26369	.	0.167970	0.37393	N	0.002109	T	0.09992	0.0245	N	0.22421	0.69	0.22933	N	0.998542	B	0.25904	0.137	B	0.23018	0.043	T	0.22661	-1.0210	10	0.41790	T	0.15	-5.2017	7.5477	0.27777	0.0:0.6822:0.0:0.3178	.	10	Q6P0N0	M18BP_HUMAN	T	10	ENSP00000309790:R10T	ENSP00000309790:R10T	R	-	2	0	MIS18BP1	44786211	0.035000	0.19736	0.897000	0.35233	0.234000	0.25298	-0.398000	0.07259	0.617000	0.30160	0.585000	0.79938	AGA	MIS18BP1	-	NULL	ENSG00000129534		0.373	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	36	0.00	0	C			45716461	45716461	-1	no_errors	ENST00000310806	ensembl	human	known	69_37n	missense	37	43.08	28	SNP	0.771	G
KMT2B	9757	genome.wustl.edu	37	19	36211394	36211397	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs373403647		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	AAGA	AAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:36211394_36211397delAAGA	ENST00000222270.7	+	3	1145_1148	c.1145_1148delAAGA	c.(1144-1149)gaagaafs	p.EE382fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Del_p.EE382fs|KMT2B_ENST00000341701.1_Frame_Shift_Del_p.EE382fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	382	Asp/Glu-rich (acidic).				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										gaagagaaggaagaaAGAGCTGTA	0.534																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1145_1148delAAGA	19.37:g.36211398_36211401delAAGA	ENSP00000222270:p.Glu382fs		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R384fs	ENST00000222270.7	37	c.1145_1148	CCDS46055.1	19																																																																																			MLL4	-	pirsf_MeTrfase_trithorax	ENSG00000105663		0.534	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Clone_based_vega_gene	protein_coding		9	0.00	0	AAGA	NM_014727		36211394	36211397	+1	no_errors	ENST00000222270	ensembl	human	known	69_37n	frame_shift_del	7	41.67	5	DEL	0.894:0.905:0.903:0.785	-
KMT2E	55904	genome.wustl.edu	37	7	104681467	104681467	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:104681467C>G	ENST00000311117.3	+	3	613	c.68C>G	c.(67-69)tCa>tGa	p.S23*	KMT2E_ENST00000257745.4_Nonsense_Mutation_p.S23*|KMT2E_ENST00000476671.1_Nonsense_Mutation_p.S23*|KMT2E_ENST00000334877.4_Nonsense_Mutation_p.S23*|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	23					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GCTGCAGGTTCAGAGTAAGTA	0.368																																						dbGAP											0													96.0	88.0	91.0					7																	104681467		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.68C>G	7.37:g.104681467C>G	ENSP00000312379:p.Ser23*		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.S23*	ENST00000311117.3	37	c.68	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	C	38	7.035354	0.98017	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000495267;ENST00000476671;ENST00000474203	.	.	.	5.5	5.5	0.81552	.	0.079373	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	.	.	.	X	23	.	ENSP00000257745:S23X	S	+	2	0	MLL5	104468703	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.575000	0.86900	0.585000	0.79938	TCA	MLL5	-	NULL	ENSG00000005483		0.368	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	42	0.00	0	C			104681467	104681467	+1	no_errors	ENST00000257745	ensembl	human	known	69_37n	nonsense	33	35.29	18	SNP	1.000	G
MLLT10	8028	genome.wustl.edu	37	10	21906127	21906128	+	Frame_Shift_Del	DEL	AG	AG	-	rs533747677	byFrequency	TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:21906127_21906128delAG	ENST00000307729.7	+	8	868_869	c.690_691delAG	c.(688-693)aaagagfs	p.E231fs	MLLT10_ENST00000377072.3_Frame_Shift_Del_p.E231fs|MLLT10_ENST00000377059.3_Frame_Shift_Del_p.E231fs|MLLT10_ENST00000446906.2_Frame_Shift_Del_p.E231fs			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	231	Glu/Lys-rich.|Interaction with FSTL3.|Self-association.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCATGAGAAAGAGAAAAAAGT	0.287			T	"""MLL, PICALM, CDK6"""	AL																																	dbGAP		Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.690_691delAG	10.37:g.21906129_21906130delAG	ENSP00000307411:p.Glu231fs		B1ANA8|Q5JT37|Q5VX90|Q66K63	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K234fs	ENST00000307729.7	37	c.690_691	CCDS55708.1	10																																																																																			MLLT10	-	NULL	ENSG00000078403		0.287	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	53	0.00	0	AG			21906127	21906128	+1	no_errors	ENST00000307729	ensembl	human	known	69_37n	frame_shift_del	36	28.00	14	DEL	1.000:1.000	-
MLXIP	22877	genome.wustl.edu	37	12	122517133	122517133	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:122517133C>G	ENST00000319080.7	+	1	506	c.374C>G	c.(373-375)tCg>tGg	p.S125W						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATCGACGCCTCGCTCACCAAG	0.607																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	dbGAP											0													83.0	85.0	84.0					12																	122517133		692	1591	2283	-	-	-	SO:0001583	missense	0			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.374C>G	12.37:g.122517133C>G	ENSP00000312834:p.Ser125Trp			Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S125W	ENST00000319080.7	37	c.374		12	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829851	0.71258	.	.	ENSG00000175727	ENST00000319080	T	0.34472	1.36	4.37	2.45	0.29901	.	0.248535	0.33753	N	0.004594	T	0.54806	0.1881	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.55354	-0.8154	9	0.87932	D	0	-12.5571	9.2004	0.37254	0.1527:0.5505:0.2968:0.0	.	125	Q9HAP2	MLXIP_HUMAN	W	125	ENSP00000312834:S125W	ENSP00000312834:S125W	S	+	2	0	MLXIP	121001516	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	7.111000	0.77077	0.360000	0.24265	0.462000	0.41574	TCG	MLXIP	-	NULL	ENSG00000175727		0.607	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	HGNC	protein_coding	OTTHUMT00000401718.2	16	0.00	0	C	NM_014938		122517133	122517133	+1	no_errors	ENST00000319080	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	0.995	G
MMP15	4324	genome.wustl.edu	37	16	58074441	58074441	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:58074441G>A	ENST00000219271.3	+	5	1534	c.749G>A	c.(748-750)gGa>gAa	p.G250E		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	250					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	TCCCCAAAAGGAAACAACCTC	0.632																																						dbGAP											0													53.0	45.0	48.0					16																	58074441		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.749-1G>A	16.37:g.58074441G>A			A0A2U6|Q14111	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.G250E	ENST00000219271.3	37	c.749	CCDS10792.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165950	0.78339	.	.	ENSG00000102996	ENST00000219271	T	0.27890	1.64	5.06	5.06	0.68205	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70292	-0.4912	9	.	.	.	.	17.4067	0.87475	0.0:0.0:1.0:0.0	.	250	P51511	MMP15_HUMAN	E	250	ENSP00000219271:G250E	.	G	+	2	0	MMP15	56631942	1.000000	0.71417	0.971000	0.41717	0.468000	0.32798	8.021000	0.88750	2.349000	0.79799	0.563000	0.77884	GGA	MMP15	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000102996		0.632	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP15	HGNC	protein_coding	OTTHUMT00000257342.1	22	0.00	0	G	NM_002428	Missense_Mutation	58074441	58074441	+1	no_errors	ENST00000219271	ensembl	human	known	69_37n	missense	15	44.44	12	SNP	1.000	A
MMS19	64210	genome.wustl.edu	37	10	99237135	99237135	+	Silent	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:99237135G>T	ENST00000438925.2	-	6	797	c.462C>A	c.(460-462)atC>atA	p.I154I	MMS19_ENST00000327238.10_Silent_p.I154I|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000370782.2_Silent_p.I154I|MMS19_ENST00000355839.6_Silent_p.I154I	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	154					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AATTGGTGATGATATTGTAGA	0.468								Direct reversal of damage																														dbGAP											0													131.0	126.0	128.0					10																	99237135		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.462C>A	10.37:g.99237135G>T			B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Silent	SNP	pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold	p.I154	ENST00000438925.2	37	c.462	CCDS7464.1	10																																																																																			MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.468	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	95	0.00	0	G			99237135	99237135	-1	no_errors	ENST00000370782	ensembl	human	known	69_37n	silent	105	29.53	44	SNP	1.000	T
MR1	3140	genome.wustl.edu	37	1	181003208	181003208	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:181003208C>T	ENST00000367580.5	+	1	70	c.65C>T	c.(64-66)tCc>tTc	p.S22F	MR1_ENST00000282990.6_Missense_Mutation_p.S22F|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Missense_Mutation_p.S22F|MR1_ENST00000367579.3_Missense_Mutation_p.S22F	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	22					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	CACAGCGATTCCCGTGAGTAT	0.453																																					Colon(174;1412 1962 45296 46549 47110)	dbGAP											0													132.0	112.0	119.0					1																	181003208		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.65C>T	1.37:g.181003208C>T	ENSP00000356552:p.Ser22Phe		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,prints_MHC_I_a_a1/a2,pfscan_Ig-like	p.S22F	ENST00000367580.5	37	c.65	CCDS1342.1	1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481245	0.44147	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;T	0.01051	5.96;5.87;5.73;5.4	3.89	3.89	0.44902	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.981870	0.08265	N	0.972457	T	0.01627	0.0052	L	0.45137	1.4	0.28905	N	0.893065	B;P;B;B;B	0.36249	0.41;0.545;0.32;0.214;0.167	B;B;B;B;B	0.31337	0.094;0.128;0.128;0.06;0.128	T	0.30851	-0.9964	9	0.87932	D	0	.	11.6697	0.51393	0.0:1.0:0.0:0.0	.	22;22;22;22;22	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	F	22	ENSP00000388504:S22F;ENSP00000356552:S22F;ENSP00000282990:S22F;ENSP00000356551:S22F	ENSP00000282990:S22F	S	+	2	0	MR1	179269831	0.158000	0.22850	0.251000	0.24312	0.154000	0.21943	2.573000	0.46007	2.460000	0.83146	0.655000	0.94253	TCC	MR1	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000153029		0.453	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MR1	HGNC	protein_coding	OTTHUMT00000085134.2	43	0.00	0	C	NM_001531		181003208	181003208	+1	no_errors	ENST00000367580	ensembl	human	known	69_37n	missense	74	27.45	28	SNP	0.267	T
MRC2	9902	genome.wustl.edu	37	17	60767008	60767008	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:60767008G>A	ENST00000303375.5	+	24	3862	c.3460G>A	c.(3460-3462)Gag>Aag	p.E1154K	MRC2_ENST00000580916.1_Intron|MRC2_ENST00000446119.2_Intron	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1154	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCTGCTGTGTGAGAGCCGCAA	0.697																																						dbGAP											0													22.0	20.0	21.0					17																	60767008		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3460G>A	17.37:g.60767008G>A	ENSP00000307513:p.Glu1154Lys		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.E1154K	ENST00000303375.5	37	c.3460	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363420	0.61513	.	.	ENSG00000011028	ENST00000303375	T	0.19105	2.17	4.8	4.8	0.61643	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	L	0.27975	0.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02196	-1.1197	10	0.08179	T	0.78	-32.5647	18.3868	0.90469	0.0:0.0:1.0:0.0	.	1154	Q9UBG0	MRC2_HUMAN	K	1154	ENSP00000307513:E1154K	ENSP00000307513:E1154K	E	+	1	0	MRC2	58120740	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	8.937000	0.92936	2.643000	0.89663	0.561000	0.74099	GAG	MRC2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000011028		0.697	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	8	0.00	0	G			60767008	60767008	+1	no_errors	ENST00000303375	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	1.000	A
MRGPRF	116535	genome.wustl.edu	37	11	68773715	68773715	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:68773715C>T	ENST00000309099.6	-	3	445	c.63G>A	c.(61-63)ctG>ctA	p.L21L	MRGPRF_ENST00000441623.1_Silent_p.L21L|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	21						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGGCCTCGCTCAGGCCAGGGC	0.672																																						dbGAP											0													28.0	32.0	31.0					11																	68773715		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.63G>A	11.37:g.68773715C>T			B3KV43|Q8NBK8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.L21	ENST00000309099.6	37	c.63	CCDS8188.1	11																																																																																			MRGPRF	-	NULL	ENSG00000172935		0.672	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	16	0.00	0	C	NM_145015		68773715	68773715	-1	no_errors	ENST00000309099	ensembl	human	known	69_37n	silent	7	41.67	5	SNP	0.001	T
MRPL13	28998	genome.wustl.edu	37	8	121455458	121455458	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:121455458G>C	ENST00000306185.3	-	2	409	c.118C>G	c.(118-120)Cag>Gag	p.Q40E	MTBP_ENST00000305949.1_5'Flank	NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	40					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGTAATCCCTGAAGTCTTATA	0.418																																						dbGAP											0													142.0	134.0	136.0					8																	121455458		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"""Mitochondrial ribosomal proteins / large subunits"""	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.118C>G	8.37:g.121455458G>C	ENSP00000306548:p.Gln40Glu		B2R4R8|Q9UI04	Missense_Mutation	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type	p.Q40E	ENST00000306185.3	37	c.118	CCDS6332.1	8	.	.	.	.	.	.	.	.	.	.	G	7.645	0.681753	0.14907	.	.	ENSG00000172172	ENST00000306185;ENST00000518918	.	.	.	5.74	5.74	0.90152	Ribosomal protein L13 domain (2);	0.053121	0.85682	D	0.000000	T	0.60689	0.2288	M	0.76170	2.325	0.45747	D	0.998641	B	0.10296	0.003	B	0.15870	0.014	T	0.57969	-0.7719	9	0.39692	T	0.17	-9.879	10.1923	0.43035	0.0:0.185:0.6814:0.1336	.	40	Q9BYD1	RM13_HUMAN	E	40;16	.	ENSP00000306548:Q40E	Q	-	1	0	MRPL13	121524639	1.000000	0.71417	0.988000	0.46212	0.824000	0.46624	4.763000	0.62257	2.710000	0.92621	0.542000	0.68232	CAG	MRPL13	-	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type	ENSG00000172172		0.418	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL13	HGNC	protein_coding	OTTHUMT00000381523.1	86	0.00	0	G	NM_014078		121455458	121455458	-1	no_errors	ENST00000306185	ensembl	human	known	69_37n	missense	42	46.84	37	SNP	1.000	C
MRPL47	57129	genome.wustl.edu	37	3	179319550	179319550	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:179319550C>G	ENST00000476781.1	-	3	302	c.273G>C	c.(271-273)agG>agC	p.R91S	MRPL47_ENST00000259038.2_Missense_Mutation_p.R71S|MRPL47_ENST00000392659.2_5'UTR|NDUFB5_ENST00000259037.3_5'Flank	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	91					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TACTTTTGTTCCTTAGTTGCT	0.338																																						dbGAP											0													165.0	151.0	155.0					3																	179319550		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.273G>C	3.37:g.179319550C>G	ENSP00000417602:p.Arg91Ser		Q6XRG1|Q8N5D1	Missense_Mutation	SNP	pfam_Ribosomal_L47_mit	p.R91S	ENST00000476781.1	37	c.273	CCDS3232.1	3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123642	0.77436	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.70045	-0.45;-0.4	6.11	5.23	0.72850	.	0.151245	0.53938	D	0.000056	D	0.84629	0.5514	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86747	0.1958	10	0.87932	D	0	-20.9283	8.911	0.35552	0.0:0.7949:0.0:0.2051	.	71;91	Q9HD33-2;Q9HD33	.;RM47_HUMAN	S	91;71	ENSP00000417602:R91S;ENSP00000259038:R71S	ENSP00000259038:R71S	R	-	3	2	MRPL47	180802244	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	1.406000	0.34646	2.906000	0.99361	0.655000	0.94253	AGG	MRPL47	-	pfam_Ribosomal_L47_mit	ENSG00000136522		0.338	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL47	HGNC	protein_coding	OTTHUMT00000349623.1	111	0.00	0	C	NM_020409		179319550	179319550	-1	no_errors	ENST00000476781	ensembl	human	known	69_37n	missense	116	29.27	48	SNP	1.000	G
MTCH2	23788	genome.wustl.edu	37	11	47648668	47648668	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:47648668C>G	ENST00000302503.3	-	10	802	c.645G>C	c.(643-645)atG>atC	p.M215I	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Missense_Mutation_p.M67I	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	215					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TCATTTCATTCATGGTAGAAA	0.284																																						dbGAP											0													77.0	75.0	76.0					11																	47648668		2200	4298	6498	-	-	-	SO:0001583	missense	0			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.645G>C	11.37:g.47648668C>G	ENSP00000303222:p.Met215Ile		B2R7L8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.M215I	ENST00000302503.3	37	c.645	CCDS7943.1	11	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498507	0.26861	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428	T;T;T	0.78003	-1.14;-1.14;-1.14	5.72	5.72	0.89469	Mitochondrial carrier domain (2);	0.299368	0.43260	D	0.000583	T	0.58963	0.2159	N	0.08118	0	0.28896	N	0.893542	B	0.22211	0.066	B	0.17098	0.017	T	0.54403	-0.8299	10	0.36615	T	0.2	-3.5229	12.0414	0.53454	0.0:0.9201:0.0:0.0798	.	215	Q9Y6C9	MTCH2_HUMAN	I	215;67;206	ENSP00000303222:M215I;ENSP00000439013:M67I;ENSP00000432043:M206I	ENSP00000303222:M215I	M	-	3	0	MTCH2	47605244	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.909000	0.63314	2.699000	0.92147	0.561000	0.74099	ATG	MTCH2	-	superfamily_Mt_carrier_dom	ENSG00000109919		0.284	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTCH2	HGNC	protein_coding	OTTHUMT00000391921.2	45	0.00	0	C	NM_014342		47648668	47648668	-1	no_errors	ENST00000302503	ensembl	human	known	69_37n	missense	89	33.08	44	SNP	1.000	G
MTHFD1L	25902	genome.wustl.edu	37	6	151206858	151206858	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:151206858C>G	ENST00000367321.3	+	6	905	c.631C>G	c.(631-633)Ctt>Gtt	p.L211V	MTHFD1L_ENST00000367307.4_Missense_Mutation_p.L211V	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	211	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AATTGAACTTCTTGAAAAATC	0.373																																						dbGAP											0													113.0	115.0	114.0					6																	151206858		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.631C>G	6.37:g.151206858C>G	ENSP00000356290:p.Leu211Val		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.L211V	ENST00000367321.3	37	c.631	CCDS5228.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.31|12.31	1.898691|1.898691	0.33535|0.33535	.|.	.|.	ENSG00000120254|ENSG00000120254	ENST00000367308|ENST00000367321;ENST00000367307;ENST00000423867;ENST00000443074;ENST00000425276	.|T;T;T;T;T	.|0.63580	.|-0.05;-0.05;-0.05;-0.05;-0.05	4.75|4.75	2.93|2.93	0.34026|0.34026	.|Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	.|0.129704	.|0.53938	.|N	.|0.000058	T|T	0.48978|0.48978	0.1530|0.1530	L|L	0.53617|0.53617	1.68|1.68	0.43819|0.43819	D|D	0.996385|0.996385	.|B;B;D	.|0.56968	.|0.014;0.014;0.978	.|B;B;P	.|0.50352	.|0.028;0.028;0.638	T|T	0.48055|0.48055	-0.9068|-0.9068	5|10	.|0.41790	.|T	.|0.15	.|.	9.1635|9.1635	0.37037|0.37037	0.165:0.6759:0.1591:0.0|0.165:0.6759:0.1591:0.0	.|.	.|211;211;211	.|B7ZM99;Q6UB35;Q6UB35-2	.|.;C1TM_HUMAN;.	L|V	170|211;211;101;56;55	.|ENSP00000356290:L211V;ENSP00000356276:L211V;ENSP00000400776:L101V;ENSP00000415039:L56V;ENSP00000414412:L55V	.|ENSP00000356276:L211V	F|L	+|+	3|1	2|0	MTHFD1L|MTHFD1L	151248551|151248551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.772000|1.772000	0.38552|0.38552	0.589000|0.589000	0.29677|0.29677	0.555000|0.555000	0.69702|0.69702	TTC|CTT	MTHFD1L	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom	ENSG00000120254		0.373	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	67	0.00	0	C	NM_015440		151206858	151206858	+1	no_errors	ENST00000367321	ensembl	human	known	69_37n	missense	75	48.63	71	SNP	1.000	G
MTPAP	55149	genome.wustl.edu	37	10	30653342	30653342	+	Intron	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:30653342G>C	ENST00000488290.1	-	9	1912				RN7SL241P_ENST00000482973.2_RNA|MTPAP_ENST00000358107.4_Intron|AL161651.1_ENST00000408070.1_RNA			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase						cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCAGCTCTTAGATGATGGTGA	0.433																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000488290.1:c.2191+292C>G	10.37:g.30653342G>C			D3DRX0|Q659E3|Q6P7E5|Q9HA74	RNA	SNP	-	NULL	ENST00000488290.1	37	NULL		10																																																																																			MTPAP	-	-	ENSG00000107951		0.433	MTPAP-002	KNOWN	basic	processed_transcript	MTPAP	HGNC	protein_coding	OTTHUMT00000047427.1	40	0.00	0	G	NM_018109		30653342	30653342	-1	no_errors	ENST00000471055	ensembl	human	known	69_37n	rna	22	43.59	17	SNP	0.959	C
MTRR	4552	genome.wustl.edu	37	5	7883323	7883323	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:7883323C>G	ENST00000264668.2	+	6	947	c.917C>G	c.(916-918)tCa>tGa	p.S306*	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000440940.2_Nonsense_Mutation_p.S279*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	306	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GTGCCAATTTCAAAGGCAGTT	0.358																																						dbGAP											0													100.0	96.0	97.0					5																	7883323		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.917C>G	5.37:g.7883323C>G	ENSP00000264668:p.Ser306*		O60471|Q32MA9|Q7Z4M8	Nonsense_Mutation	SNP	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin,pfscan_Flavodoxin/NO_synth	p.S306*	ENST00000264668.2	37	c.917	CCDS3874.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.138520	0.94560	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	.	.	.	5.92	5.92	0.95590	.	0.280731	0.36591	N	0.002519	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-23.0665	12.7667	0.57396	0.0:0.9252:0.0:0.0748	.	.	.	.	X	306;279	.	ENSP00000264668:S306X	S	+	2	0	MTRR	7936323	0.997000	0.39634	0.980000	0.43619	0.969000	0.65631	3.634000	0.54302	2.804000	0.96469	0.655000	0.94253	TCA	MTRR	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000124275		0.358	MTRR-001	KNOWN	basic|CCDS	protein_coding	MTRR	HGNC	protein_coding	OTTHUMT00000206931.1	89	0.00	0	C			7883323	7883323	+1	no_errors	ENST00000264668	ensembl	human	known	69_37n	nonsense	50	35.90	28	SNP	0.951	G
MUC16	94025	genome.wustl.edu	37	19	9070790	9070790	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:9070790G>C	ENST00000397910.4	-	3	16859	c.16656C>G	c.(16654-16656)ttC>ttG	p.F5552L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5554	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGGAGGTGAAGAGCCTGG	0.507																																						dbGAP											0													240.0	219.0	226.0					19																	9070790		1997	4152	6149	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16656C>G	19.37:g.9070790G>C	ENSP00000381008:p.Phe5552Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.F5552L	ENST00000397910.4	37	c.16656	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	5.695	0.312739	0.10789	.	.	ENSG00000181143	ENST00000397910	T	0.02446	4.29	1.67	0.366	0.16136	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	.	.	.	P	0.45594	0.862	B	0.31751	0.135	T	0.47459	-0.9116	8	0.87932	D	0	.	3.2257	0.06731	0.4875:0.0:0.5125:0.0	.	5552	B5ME49	.	L	5552	ENSP00000381008:F5552L	ENSP00000381008:F5552L	F	-	3	2	MUC16	8931790	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.734000	0.04893	0.113000	0.18004	0.299000	0.19835	TTC	MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	245	0.00	0	G	NM_024690		9070790	9070790	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	210	36.83	123	SNP	0.000	C
MUC17	140453	genome.wustl.edu	37	7	100686956	100686956	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:100686956G>C	ENST00000306151.4	+	3	12323	c.12259G>C	c.(12259-12261)Gag>Cag	p.E4087Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4087					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTGAACCCTGAGGCTGTCAC	0.547																																						dbGAP											0													215.0	187.0	196.0					7																	100686956		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12259G>C	7.37:g.100686956G>C	ENSP00000302716:p.Glu4087Gln		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E4087Q	ENST00000306151.4	37	c.12259	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	1.981	-0.434035	0.04669	.	.	ENSG00000169876	ENST00000306151	T	0.01947	4.54	1.43	-1.01	0.10169	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.26876	0.162	B	0.33254	0.16	T	0.49341	-0.8950	9	0.14656	T	0.56	.	1.6845	0.02839	0.2506:0.0:0.4143:0.3352	.	4087	Q685J3	MUC17_HUMAN	Q	4087	ENSP00000302716:E4087Q	ENSP00000302716:E4087Q	E	+	1	0	MUC17	100473676	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.304000	0.08199	-0.083000	0.12618	0.485000	0.47835	GAG	MUC17	-	NULL	ENSG00000169876		0.547	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	82	0.00	0	G	NM_001040105		100686956	100686956	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	156	36.69	91	SNP	0.000	C
MUC4	4585	genome.wustl.edu	37	3	195508239	195508239	+	Silent	SNP	A	A	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:195508239A>G	ENST00000463781.3	-	2	10671	c.10212T>C	c.(10210-10212)ggT>ggC	p.G3404G	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.G3404G|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCATGGTGTCACCTGTGGATA	0.587																																						dbGAP											0													30.0	23.0	25.0					3																	195508239		685	1575	2260	-	-	-	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10212T>C	3.37:g.195508239A>G			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.G3404	ENST00000463781.3	37	c.10212	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	13	0.00	0	A	NM_018406		195508239	195508239	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	258	30.00	111	SNP	0.002	G
MUSK	4593	genome.wustl.edu	37	9	113550161	113550161	+	Intron	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:113550161G>A	ENST00000374448.4	+	14	2061				MUSK_ENST00000374438.1_Missense_Mutation_p.R173K|MUSK_ENST00000416899.2_Intron|MUSK_ENST00000189978.5_Intron	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase						cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCAGAAAACAGAGGCTTTCCA	0.408																																						dbGAP											0													19.0	18.0	18.0					9																	113550161		1850	4093	5943	-	-	-	SO:0001627	intron_variant	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1927+43G>A	9.37:g.113550161G>A			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.R173K	ENST00000374448.4	37	c.518	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	G	8.759	0.923185	0.18056	.	.	ENSG00000030304	ENST00000374441;ENST00000374438	T	0.80909	-1.43	5.1	2.22	0.28083	.	.	.	.	.	T	0.70789	0.3264	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.57934	-0.7725	5	.	.	.	.	5.0114	0.14315	0.192:0.1937:0.6144:0.0	.	.	.	.	K	173	ENSP00000363561:R173K	.	R	+	2	0	MUSK	112589982	0.042000	0.20092	0.001000	0.08648	0.344000	0.29017	1.120000	0.31271	0.392000	0.25172	0.655000	0.94253	AGA	MUSK	-	pfscan_Prot_kinase_cat_dom	ENSG00000030304		0.408	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		12	0.00	0	G			113550161	113550161	+1	no_errors	ENST00000374438	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.001	A
MXRA5	25878	genome.wustl.edu	37	X	3236006	3236006	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:3236006C>G	ENST00000217939.6	-	6	5870	c.5716G>C	c.(5716-5718)Gag>Cag	p.E1906Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1906	Ig-like C2-type 3.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGAGAACCTCAAACCGTTGT	0.473																																						dbGAP											0													52.0	40.0	44.0					X																	3236006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5716G>C	X.37:g.3236006C>G	ENSP00000217939:p.Glu1906Gln		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E1906Q	ENST00000217939.6	37	c.5716	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	c	13.61	2.287536	0.40494	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67523	-0.27	3.22	3.22	0.36961	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35151	U	0.003413	T	0.55386	0.1917	N	0.11201	0.11	0.46631	D	0.999136	P	0.39601	0.68	P	0.47941	0.562	T	0.55055	-0.8200	10	0.27785	T	0.31	.	14.3589	0.66757	0.0:1.0:0.0:0.0	.	1906	Q9NR99	MXRA5_HUMAN	Q	1906	ENSP00000217939:E1906Q	ENSP00000217939:E1906Q	E	-	1	0	MXRA5	3246006	1.000000	0.71417	0.011000	0.14972	0.341000	0.28922	3.132000	0.50523	1.239000	0.43787	0.529000	0.55759	GAG	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000101825		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	14	0.00	0	C	NM_015419		3236006	3236006	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	4	50.00	4	SNP	1.000	G
MYCBP2	23077	genome.wustl.edu	37	13	77779677	77779677	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr13:77779677C>G	ENST00000544440.2	-	25	3549	c.3532G>C	c.(3532-3534)Gag>Cag	p.E1178Q	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1178Q|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E1216Q|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTCTCTTCCTCTGTACTTGCA	0.338																																						dbGAP											0													105.0	96.0	99.0					13																	77779677		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3532G>C	13.37:g.77779677C>G	ENSP00000444596:p.Glu1178Gln			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.E1216Q	ENST00000544440.2	37	c.3646		13	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373626	0.61624	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28895	1.59;1.59;1.59	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	N	0.04508	-0.205	0.58432	D	0.999999	D	0.57899	0.981	D	0.65140	0.932	T	0.50955	-0.8766	10	0.54805	T	0.06	.	18.8234	0.92106	0.0:1.0:0.0:0.0	.	1178	O75592	MYCB2_HUMAN	Q	1178;1216;1178	ENSP00000349892:E1178Q;ENSP00000384288:E1216Q;ENSP00000444596:E1178Q	ENSP00000349892:E1178Q	E	-	1	0	MYCBP2	76677678	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.274000	0.78538	2.437000	0.82529	0.460000	0.39030	GAG	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.338	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	145	0.00	0	C	NM_015057		77779677	77779677	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	38	54.76	46	SNP	1.000	G
MYH11	4629	genome.wustl.edu	37	16	15818513	15818513	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:15818513G>C	ENST00000300036.5	-	30	4216	c.4107C>G	c.(4105-4107)ctC>ctG	p.L1369L	MYH11_ENST00000396324.3_Silent_p.L1376L|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000396354.1_3'UTR|MYH11_ENST00000452625.2_Silent_p.L1376L|MYH11_ENST00000576790.2_Silent_p.L1369L|AF001548.5_ENST00000574212.1_RNA|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000342673.5_3'UTR	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1369					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTGGATGTTGAGAGTGGAGA	0.617			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													133.0	126.0	128.0					16																	15818513		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4107C>G	16.37:g.15818513G>C			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1376	ENST00000300036.5	37	c.4128	CCDS10565.1	16																																																																																			MYH11	-	pfam_Myosin_tail	ENSG00000133392		0.617	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	101	0.00	0	G	NM_001040113		15818513	15818513	-1	no_errors	ENST00000396324	ensembl	human	known	69_37n	silent	18	40.00	12	SNP	0.989	C
MYH11	4629	genome.wustl.edu	37	16	15853444	15853444	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:15853444C>T	ENST00000300036.5	-	12	1499	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	MYH11_ENST00000396324.3_Missense_Mutation_p.E471K|MYH11_ENST00000452625.2_Missense_Mutation_p.E471K|MYH11_ENST00000576790.2_Missense_Mutation_p.E464K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	464	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCAAAGATCTCAAATCCAGCT	0.522			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													153.0	144.0	147.0					16																	15853444		2197	4300	6497	-	-	-	SO:0001583	missense	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1390G>A	16.37:g.15853444C>T	ENSP00000300036:p.Glu464Lys		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E471K	ENST00000300036.5	37	c.1411	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.645909	0.96704	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.75	5.75	0.90469	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.95601	0.8570	H	0.99949	5.025	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998;0.998	D	0.97875	1.0288	10	0.87932	D	0	.	18.932	0.92570	0.0:1.0:0.0:0.0	.	471;464;464;471;464;471	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	K	464;464;471;471;471	ENSP00000300036:E464K;ENSP00000345136:E464K;ENSP00000379616:E471K;ENSP00000407821:E471K	ENSP00000300036:E464K	E	-	1	0	MYH11	15760945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.706000	0.92434	0.561000	0.74099	GAG	MYH11	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000133392		0.522	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	76	0.00	0	C	NM_001040113		15853444	15853444	-1	no_errors	ENST00000396324	ensembl	human	known	69_37n	missense	54	41.94	39	SNP	1.000	T
MYH13	8735	genome.wustl.edu	37	17	10233724	10233724	+	Missense_Mutation	SNP	G	G	C	rs373389464		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:10233724G>C	ENST00000418404.3	-	20	2578	c.2415C>G	c.(2413-2415)ttC>ttG	p.F805L	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.F805L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	805	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCATCTTCTTGAACTCCACCC	0.552																																						dbGAP											0													95.0	99.0	98.0					17																	10233724		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2415C>G	17.37:g.10233724G>C	ENSP00000404570:p.Phe805Leu		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.F805L	ENST00000418404.3	37	c.2415	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165712	0.38217	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.72835	-0.69	3.84	2.78	0.32641	.	.	.	.	.	T	0.63402	0.2508	M	0.69823	2.125	0.32362	N	0.556968	B	0.02656	0.0	B	0.08055	0.003	T	0.67658	-0.5614	9	0.62326	D	0.03	.	2.1246	0.03735	0.2538:0.0:0.4679:0.2783	.	805	Q9UKX3	MYH13_HUMAN	L	805;480	ENSP00000252172:F805L	ENSP00000252172:F805L	F	-	3	2	MYH13	10174449	0.001000	0.12720	1.000000	0.80357	0.815000	0.46073	-0.045000	0.12003	2.142000	0.66516	0.563000	0.77884	TTC	MYH13	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000006788		0.552	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	86	0.00	0	G	NM_003802		10233724	10233724	-1	no_errors	ENST00000252172	ensembl	human	known	69_37n	missense	32	60.00	48	SNP	1.000	C
MYH7B	57644	genome.wustl.edu	37	20	33584937	33584937	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:33584937C>G	ENST00000262873.7	+	29	3536	c.3444C>G	c.(3442-3444)ctC>ctG	p.L1148L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1106						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACGAGCAGCTCTTGGGGGCCC	0.652																																						dbGAP											0													16.0	19.0	18.0					20																	33584937		1873	3906	5779	-	-	-	SO:0001819	synonymous_variant	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3444C>G	20.37:g.33584937C>G			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1148	ENST00000262873.7	37	c.3444	CCDS42869.1	20																																																																																			MYH7B	-	pfam_Myosin_tail	ENSG00000078814		0.652	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	12	0.00	0	C	NM_020884		33584937	33584937	+1	no_errors	ENST00000262873	ensembl	human	novel	69_37n	silent	6	40.00	4	SNP	0.919	G
MYH9	4627	genome.wustl.edu	37	22	36697607	36697607	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:36697607G>C	ENST00000216181.5	-	21	2834	c.2604C>G	c.(2602-2604)ctC>ctG	p.L868L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	868					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCATCTCCGTGAGCCTGTTCT	0.642			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													156.0	105.0	122.0					22																	36697607		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2604C>G	22.37:g.36697607G>C		864	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.L868	ENST00000216181.5	37	c.2604	CCDS13927.1	22																																																																																			MYH9	-	NULL	ENSG00000100345		0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	59	0.00	0	G	NM_002473		36697607	36697607	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	silent	47	42.68	35	SNP	0.399	C
MYL6	4637	genome.wustl.edu	37	12	56554074	56554074	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:56554074G>C	ENST00000550697.1	+	5	638	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	MYL6_ENST00000549566.1_Missense_Mutation_p.E178Q|MYL6_ENST00000548400.1_Missense_Mutation_p.E97Q|MYL6_ENST00000547649.1_Missense_Mutation_p.E133Q|MYL6_ENST00000536128.1_Missense_Mutation_p.E226Q|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000348108.4_Missense_Mutation_p.E134Q|MYL6_ENST00000548293.1_Missense_Mutation_p.E133Q|MYL6_ENST00000548580.1_Missense_Mutation_p.E85Q|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000547408.1_Missense_Mutation_p.E133Q|MYL6_ENST00000293422.5_Missense_Mutation_p.E134Q|MYL6_ENST00000549017.1_Missense_Mutation_p.E29Q|MYL6_ENST00000551589.1_Missense_Mutation_p.E133Q	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	133	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGCAGGGCATGAGGACAGCAA	0.488																																						dbGAP											0													82.0	73.0	76.0					12																	56554074		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.397G>C	12.37:g.56554074G>C	ENSP00000446955:p.Glu133Gln		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E133Q	ENST00000550697.1	37	c.397	CCDS8906.1	12	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308129	0.81247	.	.	ENSG00000092841	ENST00000550697;ENST00000548580;ENST00000293422;ENST00000348108;ENST00000549017;ENST00000549566;ENST00000536128;ENST00000547649;ENST00000547408;ENST00000551589;ENST00000549392;ENST00000548400;ENST00000548293	T;T;T;T;T;T;T;T;T;T;T;T;T	0.79845	-1.31;-0.57;-1.31;-1.31;0.95;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.01	4.01	0.46588	EF-hand-like domain (1);	0.110885	0.64402	D	0.000015	D	0.88280	0.6394	M	0.82716	2.605	0.80722	D	1	D;P;D;D	0.69078	0.996;0.956;0.992;0.997	P;P;P;P	0.59761	0.633;0.488;0.675;0.863	D	0.89976	0.4097	10	0.56958	D	0.05	.	15.4507	0.75271	0.0:0.0:1.0:0.0	.	226;133;133;133	B7Z6Z4;P60660-2;P60660;F8W1R7	.;.;MYL6_HUMAN;.	Q	133;85;134;134;29;178;226;133;133;133;121;97;133	ENSP00000446955:E133Q;ENSP00000446640:E85Q;ENSP00000293422:E134Q;ENSP00000301540:E134Q;ENSP00000449086:E29Q;ENSP00000446709:E178Q;ENSP00000441750:E226Q;ENSP00000446714:E133Q;ENSP00000446721:E133Q;ENSP00000446687:E133Q;ENSP00000450116:E121Q;ENSP00000448859:E97Q;ENSP00000448101:E133Q	ENSP00000293422:E134Q	E	+	1	0	MYL6	54840341	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	9.646000	0.98474	2.267000	0.75376	0.462000	0.41574	GAG	MYL6	-	smart_EF_hand_Ca-bd	ENSG00000092841		0.488	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	MYL6	HGNC	protein_coding	OTTHUMT00000407928.3	82	0.00	0	G			56554074	56554074	+1	no_errors	ENST00000547649	ensembl	human	known	69_37n	missense	36	41.94	26	SNP	1.000	C
MYO10	4651	genome.wustl.edu	37	5	16670782	16670782	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:16670782C>G	ENST00000513610.1	-	39	6190	c.5736G>C	c.(5734-5736)tgG>tgC	p.W1912C	MYO10_ENST00000515803.1_Missense_Mutation_p.W1251C|MYO10_ENST00000505695.1_Missense_Mutation_p.W1251C|MYO10_ENST00000274203.9_Missense_Mutation_p.W1269C|MYO10_ENST00000427430.2_Missense_Mutation_p.W1269C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1912	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTTCCTTAATCCACATGTCCA	0.562																																						dbGAP											0													100.0	101.0	101.0					5																	16670782		2003	4160	6163	-	-	-	SO:0001583	missense	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5736G>C	5.37:g.16670782C>G	ENSP00000421280:p.Trp1912Cys		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.W1912C	ENST00000513610.1	37	c.5736	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676721	0.88445	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.92	5.92	0.95590	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.70552	0.3237	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.934;0.999;0.997	T	0.66252	-0.5970	9	0.36615	T	0.2	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	791;1552;1912	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	C	1912;1251;1269;1251;1269	ENSP00000421280:W1912C;ENSP00000425051:W1251C;ENSP00000274203:W1269C;ENSP00000421170:W1251C;ENSP00000391106:W1269C	ENSP00000274203:W1269C	W	-	3	0	MYO10	16723782	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	7.786000	0.85741	2.804000	0.96469	0.655000	0.94253	TGG	MYO10	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000145555		0.562	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	38	0.00	0	C	NM_012334		16670782	16670782	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	missense	38	34.48	20	SNP	1.000	G
MYO16	23026	genome.wustl.edu	37	13	109496803	109496803	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr13:109496803G>C	ENST00000357550.2	+	9	1185	c.1144G>C	c.(1144-1146)Gaa>Caa	p.E382Q	MYO16_ENST00000251041.5_Missense_Mutation_p.E382Q|MYO16_ENST00000356711.2_Missense_Mutation_p.E382Q	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGCATCCCTGAAAACCCCAT	0.408																																						dbGAP											0													117.0	111.0	113.0					13																	109496803		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1144G>C	13.37:g.109496803G>C	ENSP00000350160:p.Glu382Gln			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E382Q	ENST00000357550.2	37	c.1144	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485718	0.63962	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	D;D;D	0.95307	-3.67;-3.67;-3.67	5.31	4.45	0.53987	.	0.000000	0.41396	U	0.000887	D	0.95784	0.8628	M	0.70595	2.14	0.80722	D	1	B;D	0.63046	0.259;0.992	B;P	0.59825	0.156;0.864	D	0.94926	0.8078	9	.	.	.	.	12.82	0.57688	0.0789:0.0:0.9211:0.0	.	382;382	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	Q	382;382;382;382;170	ENSP00000349145:E382Q;ENSP00000350160:E382Q;ENSP00000251041:E382Q	.	E	+	1	0	MYO16	108294804	1.000000	0.71417	0.026000	0.17262	0.038000	0.13279	5.539000	0.67199	2.638000	0.89438	0.650000	0.86243	GAA	MYO16	-	NULL	ENSG00000041515		0.408	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	69	0.00	0	G	NM_015011		109496803	109496803	+1	no_errors	ENST00000356711	ensembl	human	known	69_37n	missense	21	44.74	17	SNP	0.428	C
MYO18B	84700	genome.wustl.edu	37	22	26422843	26422843	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:26422843C>G	ENST00000407587.2	+	43	7075	c.6906C>G	c.(6904-6906)ctC>ctG	p.L2302L	MYO18B_ENST00000335473.7_Silent_p.L2301L|MYO18B_ENST00000536101.1_Silent_p.L2301L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2301						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGGAAACCTCTCGCTGAGGG	0.612																																						dbGAP											0													23.0	29.0	27.0					22																	26422843		1901	4108	6009	-	-	-	SO:0001819	synonymous_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6906C>G	22.37:g.26422843C>G			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	NULL	p.S251C	ENST00000407587.2	37	c.752		22	.	.	.	.	.	.	.	.	.	.	C	0.429	-0.904356	0.02453	.	.	ENSG00000133454	ENST00000543971	.	.	.	4.61	0.882	0.19172	.	.	.	.	.	T	0.63616	0.2526	.	.	.	0.36965	D	0.893549	.	.	.	.	.	.	T	0.68530	-0.5384	4	.	.	.	.	15.2501	0.73539	0.0:0.4761:0.5239:0.0	.	.	.	.	C	251	.	.	S	+	2	0	MYO18B	24752843	0.017000	0.18338	0.346000	0.25655	0.167000	0.22549	0.130000	0.15850	0.450000	0.26774	0.313000	0.20887	TCT	MYO18B	-	NULL	ENSG00000133454		0.612	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	16	0.00	0	C	NM_032608		26422843	26422843	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000543971	ensembl	human	novel	69_37n	missense	7	46.15	6	SNP	0.663	G
MYO3B	140469	genome.wustl.edu	37	2	171242759	171242759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:171242759C>T	ENST00000408978.4	+	13	1494	c.1351C>T	c.(1351-1353)Cag>Tag	p.Q451*	MYO3B_ENST00000409044.3_Nonsense_Mutation_p.Q451*|MYO3B_ENST00000334231.6_Nonsense_Mutation_p.Q460*|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	451	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CCTGATTGTTCAGCATTTGAC	0.433																																						dbGAP											0													129.0	125.0	126.0					2																	171242759		1944	4144	6088	-	-	-	SO:0001587	stop_gained	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1351C>T	2.37:g.171242759C>T	ENSP00000386213:p.Gln451*		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.Q460*	ENST00000408978.4	37	c.1378	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.372420	0.98241	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	.	.	.	X	451;451;450;460;460	.	ENSP00000314213:Q450X	Q	+	1	0	MYO3B	170951005	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.725000	0.93324	0.655000	0.94253	CAG	MYO3B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000071909		0.433	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	95	0.00	0	C			171242759	171242759	+1	no_errors	ENST00000334231	ensembl	human	known	69_37n	nonsense	64	40.19	43	SNP	1.000	T
MYO3B	140469	genome.wustl.edu	37	2	171243683	171243683	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:171243683C>G	ENST00000408978.4	+	14	1585	c.1442C>G	c.(1441-1443)tCa>tGa	p.S481*	MYO3B_ENST00000409044.3_Nonsense_Mutation_p.S481*|MYO3B_ENST00000334231.6_Nonsense_Mutation_p.S490*|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	481	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTGGGAACTCATGCACTGCC	0.443																																						dbGAP											0													85.0	84.0	85.0					2																	171243683		1883	4118	6001	-	-	-	SO:0001587	stop_gained	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1442C>G	2.37:g.171243683C>G	ENSP00000386213:p.Ser481*		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.S490*	ENST00000408978.4	37	c.1469	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.692911	0.97768	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.	.	.	5.63	5.63	0.86233	.	0.046308	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.677	0.95939	0.0:1.0:0.0:0.0	.	.	.	.	X	481;481;480;490;490	.	ENSP00000314213:S480X	S	+	2	0	MYO3B	170951929	1.000000	0.71417	0.993000	0.49108	0.736000	0.42039	7.788000	0.85771	2.655000	0.90218	0.462000	0.41574	TCA	MYO3B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000071909		0.443	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	59	0.00	0	C			171243683	171243683	+1	no_errors	ENST00000334231	ensembl	human	known	69_37n	nonsense	43	38.89	28	SNP	1.000	G
MYO5C	55930	genome.wustl.edu	37	15	52574997	52574997	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:52574997G>C	ENST00000261839.7	-	2	281	c.120C>G	c.(118-120)ctC>ctG	p.L40L	MYO5C_ENST00000541028.1_Intron|MYO5C_ENST00000443683.2_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	40						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCTCCAGCAGGAGTCGCAGGA	0.537																																						dbGAP											0													92.0	95.0	94.0					15																	52574997		2052	4193	6245	-	-	-	SO:0001819	synonymous_variant	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.120C>G	15.37:g.52574997G>C			Q6P1W8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L40	ENST00000261839.7	37	c.120	CCDS42036.1	15																																																																																			MYO5C	-	NULL	ENSG00000128833		0.537	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	50	0.00	0	G	NM_018728		52574997	52574997	-1	no_errors	ENST00000261839	ensembl	human	known	69_37n	silent	52	37.35	31	SNP	0.014	C
MYO5A	4644	genome.wustl.edu	37	15	52646094	52646094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:52646094C>A	ENST00000399231.3	-	26	3784	c.3541G>T	c.(3541-3543)Gag>Tag	p.E1181*	MYO5A_ENST00000356338.6_Nonsense_Mutation_p.E1181*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.E1181*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.E1181*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.E1181*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1181					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AGCACCTGCTCCTCCTTGCGG	0.572																																						dbGAP											0													110.0	116.0	114.0					15																	52646094		2102	4222	6324	-	-	-	SO:0001587	stop_gained	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3541G>T	15.37:g.52646094C>A	ENSP00000382177:p.Glu1181*		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1181*	ENST00000399231.3	37	c.3541	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	43	9.839218	0.99276	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	.	.	.	6.07	5.16	0.70880	.	0.049662	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	15.2691	0.73686	0.0:0.933:0.0:0.067	.	.	.	.	X	1181;715;1181;1181;1181;811;1181	.	ENSP00000348693:E1181X	E	-	1	0	MYO5A	50433386	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.487000	0.81328	1.567000	0.49668	0.655000	0.94253	GAG	MYO5A	-	NULL	ENSG00000197535		0.572	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	68	0.00	0	C	NM_000259		52646094	52646094	-1	no_errors	ENST00000358212	ensembl	human	known	69_37n	nonsense	32	36.00	18	SNP	1.000	A
NAA25	80018	genome.wustl.edu	37	12	112492275	112492275	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:112492275G>C	ENST00000261745.4	-	14	1793	c.1545C>G	c.(1543-1545)atC>atG	p.I515M		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	515						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GCATACAGTAGATTCGAACAA	0.473																																						dbGAP											0													130.0	110.0	117.0					12																	112492275		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1545C>G	12.37:g.112492275G>C	ENSP00000261745:p.Ile515Met		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.I515M	ENST00000261745.4	37	c.1545	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178558	0.78564	.	.	ENSG00000111300	ENST00000261745	T	0.53206	0.63	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.112624	0.64402	D	0.000011	T	0.53981	0.1830	L	0.54323	1.7	0.50813	D	0.999893	P;P	0.50369	0.934;0.934	P;P	0.47206	0.541;0.541	T	0.57154	-0.7860	10	0.59425	D	0.04	-6.0408	19.3927	0.94590	0.0:0.0:1.0:0.0	.	515;515	A8K8X0;Q14CX7	.;NAA25_HUMAN	M	515	ENSP00000261745:I515M	ENSP00000261745:I515M	I	-	3	3	NAA25	110976658	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.247000	0.58750	2.578000	0.87016	0.655000	0.94253	ATC	NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat	ENSG00000111300		0.473	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	39	0.00	0	G	NM_024953		112492275	112492275	-1	no_errors	ENST00000261745	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	C
NAALAD2	10003	genome.wustl.edu	37	11	89907016	89907016	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:89907016G>C	ENST00000534061.1	+	14	1665	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	NAALAD2_ENST00000321955.4_Missense_Mutation_p.E446Q|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	479	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGATGGGTTTGAGAGTAAATC	0.358																																						dbGAP											0													114.0	118.0	117.0					11																	89907016		2201	4299	6500	-	-	-	SO:0001583	missense	0			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1435G>C	11.37:g.89907016G>C	ENSP00000432481:p.Glu479Gln		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.E479Q	ENST00000534061.1	37	c.1435	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410258	0.42715	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.50813	0.73;0.73	5.95	3.07	0.35406	Peptidase M28 (1);	0.282934	0.34507	N	0.003905	T	0.40272	0.1110	L	0.56396	1.775	0.80722	D	1	B	0.02656	0.0	B	0.12837	0.008	T	0.19582	-1.0301	9	.	.	.	-6.636	8.9572	0.35825	0.1328:0.1241:0.7431:0.0	.	479	Q9Y3Q0	NALD2_HUMAN	Q	479;446	ENSP00000432481:E479Q;ENSP00000320083:E446Q	.	E	+	1	0	NAALAD2	89546664	1.000000	0.71417	0.927000	0.36925	0.862000	0.49288	2.040000	0.41203	0.843000	0.35070	0.655000	0.94253	GAG	NAALAD2	-	pfam_Peptidase_M28	ENSG00000077616		0.358	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	62	0.00	0	G	NM_005467		89907016	89907016	+1	no_errors	ENST00000534061	ensembl	human	known	69_37n	missense	79	36.29	45	SNP	0.996	C
NAIF1	203245	genome.wustl.edu	37	9	130829249	130829249	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:130829249C>G	ENST00000373078.4	-	1	351	c.132G>C	c.(130-132)aaG>aaC	p.K44N	NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373069.5_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	44	Required for nuclear localization and apoptosis-inducing activity.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGGCCGCACTCTTGGCGGCCA	0.622																																						dbGAP											0													70.0	73.0	72.0					9																	130829249		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.132G>C	9.37:g.130829249C>G	ENSP00000362170:p.Lys44Asn		B3KV81|Q8WU12	Missense_Mutation	SNP	NULL	p.K44N	ENST00000373078.4	37	c.132	CCDS6889.1	9	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998886	0.74818	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	M	0.64404	1.975	0.58432	D	0.99999	D	0.76494	0.999	D	0.81914	0.995	T	0.73742	-0.3887	9	0.87932	D	0	-11.1145	11.2568	0.49058	0.0:0.9164:0.0:0.0836	.	44	Q69YI7	NAIF1_HUMAN	N	44	.	ENSP00000362170:K44N	K	-	3	2	NAIF1	129869070	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.181000	0.58303	2.436000	0.82500	0.563000	0.77884	AAG	NAIF1	-	NULL	ENSG00000171169		0.622	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	8	0.00	0	C	NM_197956		130829249	130829249	-1	no_errors	ENST00000373078	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	G
NAP1L2	4674	genome.wustl.edu	37	X	72433719	72433719	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:72433719C>T	ENST00000373517.3	-	1	965	c.610G>A	c.(610-612)Gag>Aag	p.E204K	NAP1L2_ENST00000536638.1_Missense_Mutation_p.E62K	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	204	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TAATAGTCCTCATAACCATCG	0.448																																						dbGAP											0													100.0	76.0	85.0					X																	72433719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.610G>A	X.37:g.72433719C>T	ENSP00000362616:p.Glu204Lys		B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	pfam_NAP_family	p.E204K	ENST00000373517.3	37	c.610	CCDS14423.1	X	.	.	.	.	.	.	.	.	.	.	c	17.63	3.437137	0.62955	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.37235	1.38;1.21	3.1	3.1	0.35709	.	0.988401	0.08192	U	0.983715	T	0.42471	0.1204	L	0.47716	1.5	0.28654	N	0.906485	P	0.47034	0.889	P	0.51777	0.679	T	0.23726	-1.0180	10	0.35671	T	0.21	-0.8718	8.7982	0.34892	0.0:1.0:0.0:0.0	.	204	Q9ULW6	NP1L2_HUMAN	K	204;62	ENSP00000362616:E204K;ENSP00000441555:E62K	ENSP00000362616:E204K	E	-	1	0	NAP1L2	72350444	0.337000	0.24766	1.000000	0.80357	0.978000	0.69477	1.270000	0.33086	1.805000	0.52779	0.594000	0.82650	GAG	NAP1L2	-	pfam_NAP_family	ENSG00000186462		0.448	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L2	HGNC	protein_coding	OTTHUMT00000057225.1	116	0.00	0	C	NM_021963		72433719	72433719	-1	no_errors	ENST00000373517	ensembl	human	known	69_37n	missense	111	29.75	47	SNP	1.000	T
NR1H2	7376	genome.wustl.edu	37	19	50838330	50838330	+	Intron	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:50838330C>T	ENST00000600978.1	+	2	74				KCNC3_ENST00000474951.1_5'Flank|KCNC3_ENST00000391818.2_5'Flank|NR1H2_ENST00000542413.1_Intron|NAPSB_ENST00000527780.1_RNA			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2						cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCATGTGGATCTGCCAGTAGG	0.622																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000600978.1:c.75-2929C>T	19.37:g.50838330C>T			A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	RNA	SNP	-	NULL	ENST00000600978.1	37	NULL		19																																																																																			NAPSB	-	-	ENSG00000131401		0.622	NR1H2-012	KNOWN	basic	processed_transcript	NAPSB	HGNC	protein_coding	OTTHUMT00000464783.1	42	0.00	0	C			50838330	50838330	-1	no_errors	ENST00000527780	ensembl	human	known	69_37n	rna	10	65.52	19	SNP	1.000	T
NAV1	89796	genome.wustl.edu	37	1	201752734	201752734	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:201752734C>G	ENST00000367296.4	+	7	2978	c.2558C>G	c.(2557-2559)tCa>tGa	p.S853*	NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Nonsense_Mutation_p.S853*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.S853*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.S866*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.S853*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.S462*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	853					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AATATTAACTCAGCCAGCTTC	0.567																																						dbGAP											0													114.0	121.0	119.0					1																	201752734		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2558C>G	1.37:g.201752734C>G	ENSP00000356265:p.Ser853*		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Nonsense_Mutation	SNP	smart_AAA+_ATPase	p.S853*	ENST00000367296.4	37	c.2558	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	C	45	11.503126	0.99569	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.	.	.	5.17	5.17	0.71159	.	0.069700	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.4602	18.2808	0.90097	0.0:1.0:0.0:0.0	.	.	.	.	X	866;853;853;853;853;361;462	.	ENSP00000295624:S853X	S	+	2	0	NAV1	200019357	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	5.634000	0.67833	2.403000	0.81681	0.404000	0.27445	TCA	NAV1	-	NULL	ENSG00000134369		0.567	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	103	0.00	0	C	NM_020443		201752734	201752734	+1	no_errors	ENST00000367296	ensembl	human	known	69_37n	nonsense	49	23.44	15	SNP	0.999	G
NBEAL1	65065	genome.wustl.edu	37	2	204016194	204016194	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:204016194G>A	ENST00000449802.1	+	34	5715	c.5382G>A	c.(5380-5382)caG>caA	p.Q1794Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1794										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTAGGAAACAGAATCCAATTC	0.294																																						dbGAP											0													63.0	58.0	60.0					2																	204016194		1802	4068	5870	-	-	-	SO:0001819	synonymous_variant	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5382G>A	2.37:g.204016194G>A			A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1794	ENST00000449802.1	37	c.5382	CCDS46495.1	2																																																																																			NBEAL1	-	NULL	ENSG00000144426		0.294	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	51	0.00	0	G			204016194	204016194	+1	no_errors	ENST00000449802	ensembl	human	known	69_37n	silent	45	37.50	27	SNP	0.988	A
NBPF10	100132406	genome.wustl.edu	37	1	145299869	145299869	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:145299869C>T	ENST00000369338.1	+	2	295	c.105C>T	c.(103-105)ttC>ttT	p.F35F	NBPF10_ENST00000342960.5_Silent_p.F306F|NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	306						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AACAGCAGTTCAGAAACCTCA	0.458																																						dbGAP											0													12.0	14.0	13.0					1																	145299869		690	1577	2267	-	-	-	SO:0001819	synonymous_variant	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.105C>T	1.37:g.145299869C>T			Q5RHC0|Q9NWN6	Silent	SNP	pfam_NBPF_dom	p.F306	ENST00000369338.1	37	c.918		1																																																																																			NBPF10	-	NULL	ENSG00000163386		0.458	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038552.1	183	0.00	0	C	NM_001039703		145299869	145299869	+1	no_errors	ENST00000342960	ensembl	human	known	69_37n	silent	335	17.49	71	SNP	0.000	T
NBPF20	100288142	genome.wustl.edu	37	1	148251962	148251962	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:148251962G>A	ENST00000369202.1	-	111	13976	c.13779C>T	c.(13777-13779)ttC>ttT	p.F4593F				Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	914						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CGTAAAGGGCGAAGCTGATGT	0.428																																						dbGAP											0													54.0	58.0	57.0					1																	148251962		2168	4251	6419	-	-	-	SO:0001819	synonymous_variant	0				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.13779C>T	1.37:g.148251962G>A				Silent	SNP	pfam_NBPF_dom	p.F4593	ENST00000369202.1	37	c.13779		1																																																																																			NBPF20	-	pfam_NBPF_dom	ENSG00000203832		0.428	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NBPF20	HGNC	protein_coding	OTTHUMT00000100689.2	256	0.00	0	G			148251962	148251962	-1	no_errors	ENST00000369202	ensembl	human	known	69_37n	silent	326	26.02	115	SNP	0.001	A
NBPF22P	285622	genome.wustl.edu	37	5	85592223	85592223	+	RNA	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:85592223G>A	ENST00000590707.1	+	0	1522					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		GTCCTTCACTGAGGATTGAAT	0.403																																						dbGAP											0																																										-	-	-			0			BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85592223G>A				RNA	SNP	-	NULL	ENST00000590707.1	37	NULL		5																																																																																			NBPF22P	-	-	ENSG00000205449		0.403	NBPF22P-004	KNOWN	basic	processed_transcript	NBPF22P	HGNC	pseudogene	OTTHUMT00000453100.1	110	0.00	0	G	XM_208333		85592223	85592223	+1	no_errors	ENST00000590707	ensembl	human	known	69_37n	rna	124	37.69	75	SNP	0.042	A
NCK2	8440	genome.wustl.edu	37	2	106497971	106497971	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:106497971C>T	ENST00000233154.4	+	4	856	c.414C>T	c.(412-414)gtC>gtT	p.V138V	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Silent_p.V138V|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	138	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GGTCGCGCGTCACCGTCATGG	0.637																																						dbGAP											0													90.0	75.0	80.0					2																	106497971		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.414C>T	2.37:g.106497971C>T			D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.V138	ENST00000233154.4	37	c.414	CCDS33266.1	2																																																																																			NCK2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain	ENSG00000071051		0.637	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCK2	HGNC	protein_coding	OTTHUMT00000329634.1	24	0.00	0	C	NM_003581		106497971	106497971	+1	no_errors	ENST00000233154	ensembl	human	known	69_37n	silent	12	57.14	16	SNP	0.998	T
NCOR1	9611	genome.wustl.edu	37	17	15983797	15983797	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:15983797C>T	ENST00000268712.3	-	25	3582	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	NCOR1_ENST00000395851.1_Missense_Mutation_p.E1125K|NCOR1_ENST00000395857.3_5'Flank	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1109	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGAGAAAATTCTTCCTGCTTG	0.448																																						dbGAP											0													111.0	115.0	114.0					17																	15983797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3325G>A	17.37:g.15983797C>T	ENSP00000268712:p.Glu1109Lys		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E1109K	ENST00000268712.3	37	c.3325	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901197	0.92035	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.83075	-1.68;-1.68	6.07	6.07	0.98685	.	0.111140	0.64402	D	0.000013	D	0.89164	0.6637	L	0.52573	1.65	0.80722	D	1	D;D;D	0.71674	0.992;0.997;0.998	P;D;D	0.78314	0.78;0.98;0.991	D	0.86728	0.1946	10	0.37606	T	0.19	-13.1474	19.6475	0.95784	0.0:1.0:0.0:0.0	.	1016;1109;1125	E7EVK1;O75376;O75376-2	.;NCOR1_HUMAN;.	K	1109;1125;1016	ENSP00000268712:E1109K;ENSP00000379192:E1125K	ENSP00000268712:E1109K	E	-	1	0	NCOR1	15924522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.382000	0.59594	2.885000	0.99019	0.655000	0.94253	GAA	NCOR1	-	NULL	ENSG00000141027		0.448	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	105	0.00	0	C	NM_006311		15983797	15983797	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	missense	27	67.47	56	SNP	1.000	T
NDST1	3340	genome.wustl.edu	37	5	149924919	149924919	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:149924919C>G	ENST00000261797.6	+	11	2518	c.2016C>G	c.(2014-2016)ttC>ttG	p.F672L	snoU13_ENST00000459561.1_RNA|NDST1_ENST00000523767.1_Missense_Mutation_p.F672L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	672	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCGACTTCTACTTTGAGA	0.562											OREG0016935	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													119.0	126.0	123.0					5																	149924919		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2016C>G	5.37:g.149924919C>G	ENSP00000261797:p.Phe672Leu	1728	Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.F672L	ENST00000261797.6	37	c.2016	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057299	0.55325	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	D;D	0.81908	-1.55;-1.55	5.08	2.28	0.28536	Sulfotransferase domain (1);	0.046220	0.85682	D	0.000000	T	0.71204	0.3312	N	0.21617	0.685	0.50467	D	0.999874	B;B	0.26975	0.023;0.165	B;B	0.31812	0.068;0.136	T	0.61387	-0.7073	10	0.22109	T	0.4	.	11.2306	0.48910	0.0:0.7878:0.0:0.2122	.	672;672	E7EVJ3;P52848	.;NDST1_HUMAN	L	672	ENSP00000428604:F672L;ENSP00000261797:F672L	ENSP00000261797:F672L	F	+	3	2	NDST1	149905112	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.953000	0.40352	0.651000	0.30788	-0.150000	0.13652	TTC	NDST1	-	pfam_Sulfotransferase_dom	ENSG00000070614		0.562	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	25	0.00	0	C	NM_001543		149924919	149924919	+1	no_errors	ENST00000261797	ensembl	human	known	69_37n	missense	42	24.56	14	SNP	1.000	G
NDUFV3	4731	genome.wustl.edu	37	21	44329106	44329106	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr21:44329106C>G	ENST00000340344.4	+	3	368	c.302C>G	c.(301-303)tCa>tGa	p.S101*	NDUFV3_ENST00000354250.2_Nonsense_Mutation_p.S466*|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	101					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)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		CAGCCCTCCTCAGGCCGGGAG	0.507																																						dbGAP											0													199.0	181.0	187.0					21																	44329106		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.302C>G	21.37:g.44329106C>G	ENSP00000342895:p.Ser101*		A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Nonsense_Mutation	SNP	NULL	p.S466*	ENST00000340344.4	37	c.1397	CCDS33573.1	21	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808502	0.70797	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	6.01	6.01	0.97437	.	0.235442	0.35903	N	0.002912	.	.	.	.	.	.	0.53005	D	0.999963	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.8442	20.5737	0.99360	0.0:1.0:0.0:0.0	.	.	.	.	X	466;101;105	.	ENSP00000342895:S101X	S	+	2	0	NDUFV3	43202175	1.000000	0.71417	0.139000	0.22197	0.445000	0.32107	4.970000	0.63742	2.868000	0.98415	0.644000	0.83932	TCA	NDUFV3	-	NULL	ENSG00000160194		0.507	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFV3	HGNC	protein_coding	OTTHUMT00000195448.2	50	0.00	0	C			44329106	44329106	+1	no_errors	ENST00000354250	ensembl	human	known	69_37n	nonsense	25	77.48	86	SNP	0.996	G
NES	10763	genome.wustl.edu	37	1	156645031	156645031	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:156645031G>A	ENST00000368223.3	-	2	1017	c.885C>T	c.(883-885)ctC>ctT	p.L295L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	295	Coil 2B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCCAGGCTGAGGGACATCT	0.632																																						dbGAP											0													101.0	88.0	92.0					1																	156645031		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.885C>T	1.37:g.156645031G>A			O00552|Q3LIF5|Q5SYZ6	Silent	SNP	pfam_F	p.L295	ENST00000368223.3	37	c.885	CCDS1151.1	1																																																																																			NES	-	pfam_F	ENSG00000132688		0.632	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	25	0.00	0	G	NM_006617		156645031	156645031	-1	no_errors	ENST00000368223	ensembl	human	known	69_37n	silent	22	29.03	9	SNP	0.980	A
NEUROD6	63974	genome.wustl.edu	37	7	31378815	31378815	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:31378815C>G	ENST00000297142.3	-	2	390	c.68G>C	c.(67-69)aGa>aCa	p.R23T		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	23					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTCGCATTCTCTAGAAAACTT	0.413																																						dbGAP											0													132.0	147.0	142.0					7																	31378815		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.68G>C	7.37:g.31378815C>G	ENSP00000297142:p.Arg23Thr		Q548T9|Q9H3H6	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd	p.R23T	ENST00000297142.3	37	c.68	CCDS5434.1	7	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486962	0.63962	.	.	ENSG00000164600	ENST00000297142	D	0.95377	-3.69	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	L	0.46157	1.445	0.58432	D	0.999998	D	0.57899	0.981	D	0.67231	0.95	D	0.95640	0.8697	10	0.33940	T	0.23	-2.5678	18.9485	0.92632	0.0:1.0:0.0:0.0	.	23	Q96NK8	NDF6_HUMAN	T	23	ENSP00000297142:R23T	ENSP00000297142:R23T	R	-	2	0	NEUROD6	31345340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.707000	0.68370	2.485000	0.83878	0.650000	0.86243	AGA	NEUROD6	-	pirsf_TF_bHLH_NeuroD	ENSG00000164600		0.413	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD6	HGNC	protein_coding	OTTHUMT00000215050.1	268	0.00	0	C	NM_022728		31378815	31378815	-1	no_errors	ENST00000297142	ensembl	human	known	69_37n	missense	84	35.88	47	SNP	1.000	G
NFIA	4774	genome.wustl.edu	37	1	61818161	61818161	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:61818161C>T	ENST00000403491.3	+	5	1224	c.740C>T	c.(739-741)tCa>tTa	p.S247L	NFIA_ENST00000407417.3_Missense_Mutation_p.S239L|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000371191.1_Missense_Mutation_p.S270L|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.S247L|NFIA_ENST00000371185.2_Missense_Mutation_p.S225L|NFIA_ENST00000371189.4_Missense_Mutation_p.S292L|NFIA_ENST00000371187.3_Missense_Mutation_p.S247L	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	247					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TTTTCTCTCTCAGATTTGGAA	0.388																																						dbGAP											0													86.0	87.0	86.0					1																	61818161		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.740C>T	1.37:g.61818161C>T	ENSP00000384523:p.Ser247Leu		B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.S292L	ENST00000403491.3	37	c.875	CCDS44156.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508337	0.85282	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371187	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.75	5.75	0.90469	.	0.064498	0.64402	D	0.000007	T	0.36936	0.0985	N	0.14661	0.345	0.54753	D	0.999988	B;B;B;B	0.26445	0.073;0.149;0.089;0.122	B;B;B;B	0.26202	0.059;0.067;0.042;0.04	T	0.17258	-1.0375	10	0.51188	T	0.08	-12.687	19.9375	0.97146	0.0:1.0:0.0:0.0	.	292;270;247;247	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	L	270;239;292;247;247;225;247	ENSP00000360233:S270L;ENSP00000384680:S239L;ENSP00000360231:S292L;ENSP00000384523:S247L;ENSP00000419785:S247L;ENSP00000360227:S225L;ENSP00000360229:S247L	ENSP00000360227:S225L	S	+	2	0	NFIA	61590749	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.212000	0.77941	2.717000	0.92951	0.650000	0.86243	TCA	NFIA	-	pfam_CTF/NFI	ENSG00000162599		0.388	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIA	HGNC	protein_coding	OTTHUMT00000023799.3	75	0.00	0	C	NM_005595		61818161	61818161	+1	no_errors	ENST00000371189	ensembl	human	known	69_37n	missense	54	40.00	36	SNP	1.000	T
NFX1	4799	genome.wustl.edu	37	9	33328583	33328583	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:33328583C>G	ENST00000379540.3	+	10	1973	c.1911C>G	c.(1909-1911)ttC>ttG	p.F637L	NFX1_ENST00000318524.6_Missense_Mutation_p.F637L|NFX1_ENST00000379521.4_Missense_Mutation_p.F637L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	637					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TTAAAGATTTCATTCATACCT	0.418																																						dbGAP											0													139.0	130.0	133.0					9																	33328583		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1911C>G	9.37:g.33328583C>G	ENSP00000368856:p.Phe637Leu		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd	p.F637L	ENST00000379540.3	37	c.1911	CCDS6538.1	9	.	.	.	.	.	.	.	.	.	.	C	9.426	1.084270	0.20309	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.54279	0.58;0.58;0.58	6.17	4.34	0.51931	Zinc finger, NF-X1-type (2);	0.364342	0.32416	N	0.006134	T	0.33089	0.0851	N	0.22421	0.69	0.30437	N	0.776584	B;B;B;B;B	0.12013	0.005;0.002;0.002;0.005;0.003	B;B;B;B;B	0.18263	0.016;0.009;0.009;0.005;0.021	T	0.27088	-1.0084	10	0.10636	T	0.68	-5.1176	8.2083	0.31469	0.0:0.7622:0.0:0.2378	.	637;521;637;637;637	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	L	637	ENSP00000368856:F637L;ENSP00000368836:F637L;ENSP00000317695:F637L	ENSP00000317695:F637L	F	+	3	2	NFX1	33318583	0.906000	0.30813	1.000000	0.80357	0.992000	0.81027	0.019000	0.13444	0.938000	0.37419	0.655000	0.94253	TTC	NFX1	-	pfam_Znf_NFX1,smart_Znf_NFX1	ENSG00000086102		0.418	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	HGNC	protein_coding	OTTHUMT00000052069.1	199	0.00	0	C			33328583	33328583	+1	no_errors	ENST00000379540	ensembl	human	known	69_37n	missense	43	65.35	83	SNP	1.000	G
NIN	51199	genome.wustl.edu	37	14	51204902	51204902	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:51204902C>G	ENST00000382041.3	-	27	5921	c.5731G>C	c.(5731-5733)Gag>Cag	p.E1911Q	NIN_ENST00000389868.3_Missense_Mutation_p.E1198Q|NIN_ENST00000245441.5_Missense_Mutation_p.E1911Q|NIN_ENST00000382043.4_Missense_Mutation_p.E1198Q|NIN_ENST00000453196.1_Missense_Mutation_p.E1911Q|NIN_ENST00000324330.9_Missense_Mutation_p.E1911Q|NIN_ENST00000530997.2_Missense_Mutation_p.E1911Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1911					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGATCACACTCTCTCTTTAAG	0.403			T	PDGFRB	MPD																																	dbGAP		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													292.0	267.0	275.0					14																	51204902		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5731G>C	14.37:g.51204902C>G	ENSP00000371472:p.Glu1911Gln		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.E1911Q	ENST00000382041.3	37	c.5731	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.600765|4.600765	0.87055|0.87055	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|T;T	0.17854|0.27557	3.1;2.26;2.25;2.66;2.69;2.57|1.87;1.66	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.161948|.	0.52532|.	D|.	0.000068|.	T|T	0.52693|0.52693	0.1750|0.1750	M|M	0.69823|0.69823	2.125|2.125	0.46631|0.46631	D|D	0.999135|0.999135	D;D;D;P;D|.	0.89917|.	0.999;1.0;0.998;0.935;0.998|.	D;D;D;P;D|.	0.91635|.	0.986;0.999;0.994;0.755;0.994|.	T|T	0.41484|0.41484	-0.9506|-0.9506	10|7	0.28530|0.42905	T|T	0.3|0.14	-19.4374|-19.4374	19.2504|19.2504	0.93923|0.93923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1917;1911;1911;1198;1911|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	Q|T	1911;1894;1198;1198;1917;1911;1911;1911|1401	ENSP00000245441:E1911Q;ENSP00000374518:E1198Q;ENSP00000371474:E1198Q;ENSP00000371472:E1911Q;ENSP00000324210:E1911Q;ENSP00000412391:E1911Q|ENSP00000374519:R1401T;ENSP00000433717:R1401T	ENSP00000245441:E1911Q|ENSP00000374519:R1401T	E|R	-|-	1|2	0|0	NIN|NIN	50274652|50274652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	5.798000|5.798000	0.69095|0.69095	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAG|AGA	NIN	-	NULL	ENSG00000100503		0.403	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	179	0.00	0	C	NM_182946		51204902	51204902	-1	no_errors	ENST00000245441	ensembl	human	known	69_37n	missense	140	39.91	93	SNP	1.000	G
NIP7	51388	genome.wustl.edu	37	16	69374200	69374200	+	Missense_Mutation	SNP	G	G	C	rs147713403		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:69374200G>C	ENST00000254940.5	+	3	647	c.247G>C	c.(247-249)Gtc>Ctc	p.V83L	NIP7_ENST00000254941.6_Missense_Mutation_p.V83L|RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000569637.2_Missense_Mutation_p.V83L|COG8_ENST00000562081.1_5'Flank|RP11-343C2.7_ENST00000564737.1_Intron|COG8_ENST00000306875.4_5'Flank	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	83	N-terminal domain.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				TCGGTTGCACGTCACAGCTCT	0.517																																						dbGAP											0													96.0	93.0	94.0					16																	69374200		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"""nuclear import 7 homolog (S. cerevisiae)"""			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.247G>C	16.37:g.69374200G>C	ENSP00000254940:p.Val83Leu		B2RD04|Q9NZZ0	Missense_Mutation	SNP	pfam_Rbsml_synth_fac_NIP7-like,superfamily_PUA-like_domain,smart_PUA,pirsf_Ribosomal_synth_fac_NIP7,pfscan_PUA	p.V83L	ENST00000254940.5	37	c.247	CCDS10877.1	16	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478950	0.44044	.	.	ENSG00000132603	ENST00000254940;ENST00000254941	.	.	.	5.56	-1.88	0.07713	.	0.420915	0.29752	N	0.011289	T	0.66386	0.2784	M	0.75777	2.31	0.45718	D	0.998624	B;B	0.28324	0.207;0.207	B;B	0.35039	0.186;0.194	T	0.62291	-0.6885	9	0.51188	T	0.08	-17.7748	14.5191	0.67840	0.386:0.0:0.614:0.0	.	83;83	Q9Y221-2;Q9Y221	.;NIP7_HUMAN	L	83	.	ENSP00000254940:V83L	V	+	1	0	NIP7	67931701	0.998000	0.40836	0.925000	0.36789	0.919000	0.55068	0.959000	0.29240	-0.688000	0.05155	-0.291000	0.09656	GTC	NIP7	-	pfam_Rbsml_synth_fac_NIP7-like,pirsf_Ribosomal_synth_fac_NIP7	ENSG00000132603		0.517	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIP7	HGNC	protein_coding	OTTHUMT00000268947.2	27	0.00	0	G	NM_016101		69374200	69374200	+1	no_errors	ENST00000254940	ensembl	human	known	69_37n	missense	45	43.04	34	SNP	0.991	C
NKAIN1	79570	genome.wustl.edu	37	1	31656838	31656838	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:31656838G>A	ENST00000373736.2	-	4	303	c.297C>T	c.(295-297)ttC>ttT	p.F99F	NKAIN1_ENST00000528449.1_5'Flank|NKAIN1_ENST00000263693.1_Silent_p.F55F|NKAIN1_ENST00000398657.2_Silent_p.F28F	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		GGGATGTGTTGAAGGTCATGA	0.617											OREG0004725	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													72.0	54.0	60.0					1																	31656838		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022712	CCDS339.1, CCDS339.2	1p35.2	2010-06-25	2007-10-04	2007-10-04	ENSG00000084628	ENSG00000084628		"""Na+/K+ transporting ATPase interacting"""	25743	protein-coding gene	gene with protein product		612871	"""family with sequence similarity 77, member C"""	FAM77C		17606467	Standard	NM_024522		Approved	FLJ12650	uc010ogd.2	Q4KMZ8	OTTHUMG00000003788	ENST00000373736.2:c.297C>T	1.37:g.31656838G>A		826	A2VDJ3|B7Z5F5|B7Z5W9|Q9H9M7	Missense_Mutation	SNP	pfam_Na/K-Atpase_Interacting	p.S43L	ENST00000373736.2	37	c.128	CCDS339.2	1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302304	0.23736	.	.	ENSG00000084628	ENST00000526106	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	T	0.64951	0.2645	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62798	-0.6778	4	.	.	.	-19.5948	12.8512	0.57858	0.0741:0.0:0.9259:0.0	.	.	.	.	L	43	.	.	S	-	2	0	NKAIN1	31429425	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.854000	0.55949	2.611000	0.88343	0.655000	0.94253	TCA	NKAIN1	-	pfam_Na/K-Atpase_Interacting	ENSG00000084628		0.617	NKAIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN1	HGNC	protein_coding	OTTHUMT00000010655.2	63	0.00	0	G	NM_024522		31656838	31656838	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000526106	ensembl	human	novel	69_37n	missense	14	64.10	25	SNP	1.000	A
NKAP	79576	genome.wustl.edu	37	X	119059264	119059264	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:119059264C>G	ENST00000371410.3	-	9	1333	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D	RP3-327A19.5_ENST00000455986.1_RNA|NKAP_ENST00000477789.1_5'UTR|AC002477.1_ENST00000581061.1_RNA	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	389	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TCTTTCGTCTCTCTTCTTGGT	0.453																																						dbGAP											0													167.0	153.0	158.0					X																	119059264		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1167G>C	X.37:g.119059264C>G	ENSP00000360464:p.Glu389Asp		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	pfam_DUF926	p.E389D	ENST00000371410.3	37	c.1167	CCDS14592.1	X	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934244	0.73442	.	.	ENSG00000101882	ENST00000371410	T	0.27256	1.68	5.74	2.54	0.30619	.	0.043732	0.85682	N	0.000000	T	0.45994	0.1370	M	0.79475	2.455	0.58432	D	0.999991	D	0.89917	1.0	D	0.77557	0.99	T	0.29366	-1.0014	10	0.72032	D	0.01	-16.7941	6.5431	0.22390	0.0:0.6732:0.1387:0.1881	.	389	Q8N5F7	NKAP_HUMAN	D	389	ENSP00000360464:E389D	ENSP00000360464:E389D	E	-	3	2	NKAP	118943292	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.172000	0.31908	0.090000	0.17273	0.600000	0.82982	GAG	NKAP	-	pfam_DUF926	ENSG00000101882		0.453	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAP	HGNC	protein_coding	OTTHUMT00000058072.1	94	0.00	0	C	NM_024528		119059264	119059264	-1	no_errors	ENST00000371410	ensembl	human	known	69_37n	missense	131	40.18	88	SNP	1.000	G
NLRX1	79671	genome.wustl.edu	37	11	119044705	119044705	+	Silent	SNP	C	C	T	rs560979600		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:119044705C>T	ENST00000409109.1	+	5	1334	c.747C>T	c.(745-747)ctC>ctT	p.L249L	NLRX1_ENST00000525863.1_Silent_p.L249L|NLRX1_ENST00000409265.4_Silent_p.L249L|NLRX1_ENST00000409991.1_Silent_p.L249L|NLRX1_ENST00000292199.2_Silent_p.L249L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	249	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATCTCAACCTCGACTTCCGGC	0.602													T|||	1	0.000199681	0.0	0.0	5008	,	,		19278	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													91.0	76.0	81.0					11																	119044705		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.747C>T	11.37:g.119044705C>T			A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L249	ENST00000409109.1	37	c.747	CCDS8416.1	11																																																																																			NLRX1	-	pfscan_NACHT_NTPase	ENSG00000160703		0.602	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	68	0.00	0	C	NM_170722		119044705	119044705	+1	no_errors	ENST00000292199	ensembl	human	known	69_37n	silent	14	65.85	27	SNP	0.079	T
NMT2	9397	genome.wustl.edu	37	10	15151762	15151762	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:15151762C>G	ENST00000378165.4	-	11	1495	c.1415G>C	c.(1414-1416)gGa>gCa	p.G472A	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR|NMT2_ENST00000535341.1_Missense_Mutation_p.G459A|NMT2_ENST00000540259.1_Missense_Mutation_p.G284A|NMT2_ENST00000378150.1_Missense_Mutation_p.G459A	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	472					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATTGCCATCTCCTATACCAAA	0.338																																					Melanoma(117;1345 1645 4130 12688 30625)	dbGAP											0													134.0	130.0	131.0					10																	15151762		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1415G>C	10.37:g.15151762C>G	ENSP00000367407:p.Gly472Ala		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.G503A	ENST00000378165.4	37	c.1508	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490083	0.84962	.	.	ENSG00000152465	ENST00000441445;ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.66638	-0.22	5.51	4.6	0.57074	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, conserved site (1);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85758	0.5771	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89565	0.3809	10	0.87932	D	0	-25.0634	14.3777	0.66889	0.0:0.9289:0.0:0.0711	.	459;472	Q5VUC6;O60551	.;NMT2_HUMAN	A	36;472;459;503;284;459	ENSP00000367407:G472A	ENSP00000367385:G503A	G	-	2	0	NMT2	15191768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.047000	0.71038	1.461000	0.47929	0.655000	0.94253	GGA	NMT2	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000152465		0.338	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	43	0.00	0	C	NM_004808		15151762	15151762	-1	no_errors	ENST00000378143	ensembl	human	known	69_37n	missense	73	40.65	50	SNP	1.000	G
NOD1	10392	genome.wustl.edu	37	7	30472788	30472788	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:30472788G>C	ENST00000222823.4	-	12	3154	c.2629C>G	c.(2629-2631)Caa>Gaa	p.Q877E		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	877					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGTTCATTTTGGGTCAGCCTA	0.428																																						dbGAP											0													120.0	106.0	111.0					7																	30472788		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2629C>G	7.37:g.30472788G>C	ENSP00000222823:p.Gln877Glu		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.Q877E	ENST00000222823.4	37	c.2629	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.613225	0.00835	.	.	ENSG00000106100	ENST00000222823	T	0.52295	0.67	5.52	0.258	0.15578	.	0.516494	0.23951	N	0.042955	T	0.21962	0.0529	N	0.05592	-0.015	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33777	-0.9855	10	0.02654	T	1	.	13.5001	0.61449	0.0:0.0:0.6181:0.3819	.	877	Q9Y239	NOD1_HUMAN	E	877	ENSP00000222823:Q877E	ENSP00000222823:Q877E	Q	-	1	0	NOD1	30439313	0.995000	0.38212	0.997000	0.53966	0.347000	0.29111	0.295000	0.19065	-0.114000	0.11936	-0.457000	0.05445	CAA	NOD1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000106100		0.428	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	59	0.00	0	G			30472788	30472788	-1	no_errors	ENST00000222823	ensembl	human	known	69_37n	missense	72	36.28	41	SNP	0.997	C
NOP14	8602	genome.wustl.edu	37	4	2955258	2955258	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:2955258C>G	ENST00000314262.6	-	5	775	c.727G>C	c.(727-729)Gac>Cac	p.D243H	NOP14_ENST00000398071.4_Missense_Mutation_p.D243H|NOP14_ENST00000502735.1_Missense_Mutation_p.D243H|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.D243H|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	243					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCCTTTTTGTCTCTGTTCTCT	0.498																																						dbGAP											0													228.0	209.0	216.0					4																	2955258		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.727G>C	4.37:g.2955258C>G	ENSP00000315674:p.Asp243His		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.D243H	ENST00000314262.6	37	c.727	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612570	0.28712	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.94	4.09	0.47781	.	0.553857	0.19819	N	0.105355	T	0.35189	0.0923	M	0.82716	2.605	0.09310	N	1	B;B	0.15141	0.012;0.011	B;B	0.16722	0.016;0.016	T	0.42050	-0.9474	10	0.87932	D	0	-0.8836	6.2013	0.20577	0.0:0.6796:0.1595:0.1609	.	243;243	E9PFK5;P78316	.;NOP14_HUMAN	H	243;243;243;243;142	ENSP00000405068:D243H;ENSP00000315674:D243H;ENSP00000427415:D243H;ENSP00000381146:D243H	ENSP00000315674:D243H	D	-	1	0	NOP14	2925056	0.001000	0.12720	0.002000	0.10522	0.037000	0.13140	0.756000	0.26419	1.058000	0.40530	0.491000	0.48974	GAC	NOP14	-	pfam_Nop14	ENSG00000087269		0.498	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	92	0.00	0	C	NM_003703		2955258	2955258	-1	no_errors	ENST00000416614	ensembl	human	known	69_37n	missense	59	61.94	96	SNP	0.018	G
NOX4	50507	genome.wustl.edu	37	11	89075298	89075298	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:89075298G>A	ENST00000263317.4	-	14	1519	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	NOX4_ENST00000413594.2_Silent_p.L448L|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Silent_p.L402L|NOX4_ENST00000527956.1_Silent_p.L403L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Silent_p.L403L|NOX4_ENST00000534731.1_Intron|NOX4_ENST00000375979.3_Silent_p.L120L|NOX4_ENST00000343727.5_Silent_p.L403L|NOX4_ENST00000527626.1_Silent_p.L261L|NOX4_ENST00000532825.1_Intron|NOX4_ENST00000424319.1_Silent_p.L403L|NOX4_ENST00000535633.1_Silent_p.L403L			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	427	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CAGCCACGCAGAGGCTGACCT	0.408																																						dbGAP											0													87.0	80.0	82.0					11																	89075298		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1281C>T	11.37:g.89075298G>A			A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L448	ENST00000263317.4	37	c.1344	CCDS8285.1	11																																																																																			NOX4	-	pfam_Fe_red_NAD-bd_6	ENSG00000086991		0.408	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	45	0.00	0	G	NM_016931		89075298	89075298	-1	no_errors	ENST00000413594	ensembl	human	known	69_37n	silent	33	36.54	19	SNP	0.990	A
NOXO1	124056	genome.wustl.edu	37	16	2030976	2030976	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:2030976G>A	ENST00000397280.4	-	2	114	c.111C>T	c.(109-111)ttC>ttT	p.F37F	TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000354249.4_Silent_p.F37F|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000566005.1_Silent_p.F37F|NOXO1_ENST00000356120.4_Silent_p.F37F			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	37	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	TCCTGCGCACGAAGGTGTCGC	0.652																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	dbGAP											0													42.0	42.0	42.0					16																	2030976		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.111C>T	16.37:g.2030976G>A			Q86YM1|Q8NFA3|Q96B73	Silent	SNP	pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.F37	ENST00000397280.4	37	c.111	CCDS42101.1	16																																																																																			NOXO1	-	pfam_Phox,superfamily_Phox,pfscan_Phox	ENSG00000196408		0.652	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOXO1	HGNC	protein_coding	OTTHUMT00000250612.1	8	0.00	0	G			2030976	2030976	-1	no_errors	ENST00000397280	ensembl	human	known	69_37n	silent	14	22.22	4	SNP	0.000	A
NPR1	4881	genome.wustl.edu	37	1	153660668	153660668	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:153660668G>C	ENST00000368680.3	+	15	2860	c.2388G>C	c.(2386-2388)caG>caC	p.Q796H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	796	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CATTCCAGCAGATCCGCCTGA	0.607																																					Pancreas(141;1349 1870 15144 15830 40702)	dbGAP											0													106.0	97.0	100.0					1																	153660668		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2388G>C	1.37:g.153660668G>C	ENSP00000357669:p.Gln796His		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.Q796H	ENST00000368680.3	37	c.2388	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	g	6.976	0.550015	0.13374	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.64260	-0.09	3.47	3.47	0.39725	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.276731	0.29508	N	0.011950	T	0.39517	0.1081	L	0.45285	1.41	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.18263	0.008;0.021	T	0.40194	-0.9576	10	0.36615	T	0.2	.	13.2741	0.60178	0.0:0.0:1.0:0.0	.	275;796	B7Z4Y7;P16066	.;ANPRA_HUMAN	H	796;275	ENSP00000357669:Q796H	ENSP00000357669:Q796H	Q	+	3	2	NPR1	151927292	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.111000	0.57838	2.263000	0.75096	0.457000	0.33378	CAG	NPR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000169418		0.607	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	72	0.00	0	G	NM_000906		153660668	153660668	+1	no_errors	ENST00000368680	ensembl	human	known	69_37n	missense	39	30.36	17	SNP	1.000	C
NR1D2	9975	genome.wustl.edu	37	3	24004051	24004051	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:24004051G>A	ENST00000312521.4	+	5	1420	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	367	Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CTCAGAATGAGAACAAGAATA	0.353																																						dbGAP											0													69.0	68.0	69.0					3																	24004051		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1101G>A	3.37:g.24004051G>A			B2R8Q3|O00402|Q86XD4	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E367	ENST00000312521.4	37	c.1101	CCDS33718.1	3																																																																																			NR1D2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000174738		0.353	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	15	0.00	0	G			24004051	24004051	+1	no_errors	ENST00000312521	ensembl	human	known	69_37n	silent	8	63.64	14	SNP	1.000	A
NR1D2	9975	genome.wustl.edu	37	3	24006542	24006542	+	Missense_Mutation	SNP	G	G	T	rs368873193		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:24006542G>T	ENST00000312521.4	+	6	1540	c.1221G>T	c.(1219-1221)atG>atT	p.M407I	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	407	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AATTTTCGATGAGCTTCACTC	0.418																																						dbGAP											0													140.0	139.0	139.0					3																	24006542		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1221G>T	3.37:g.24006542G>T	ENSP00000310006:p.Met407Ile		B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.M407I	ENST00000312521.4	37	c.1221	CCDS33718.1	3	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469280	0.43839	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96491	-4.03	5.78	5.78	0.91487	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.367766	0.34133	N	0.004239	D	0.93119	0.7809	L	0.28014	0.82	0.43187	D	0.995017	B	0.18968	0.032	B	0.22152	0.038	D	0.88646	0.3179	10	0.18276	T	0.48	.	20.3681	0.98887	0.0:0.0:1.0:0.0	.	407	Q14995	NR1D2_HUMAN	I	407	ENSP00000310006:M407I	ENSP00000310006:M407I	M	+	3	0	NR1D2	23981546	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.144000	0.64832	2.890000	0.99128	0.655000	0.94253	ATG	NR1D2	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000174738		0.418	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	53	0.00	0	G			24006542	24006542	+1	no_errors	ENST00000312521	ensembl	human	known	69_37n	missense	41	46.05	35	SNP	1.000	T
NRCAM	4897	genome.wustl.edu	37	7	107791178	107791178	+	Intron	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:107791178G>A	ENST00000425651.2	-	30	3677				NRCAM_ENST00000379022.4_Missense_Mutation_p.S1233F|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379028.3_Intron|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000351718.4_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AAAGGATGCAGAAGAAACAAA	0.299																																						dbGAP											0													58.0	53.0	55.0					7																	107791178		1817	4075	5892	-	-	-	SO:0001627	intron_variant	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3678-586C>T	7.37:g.107791178G>A			A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S1233F	ENST00000425651.2	37	c.3698	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025237	0.54683	.	.	ENSG00000091129	ENST00000379022	T	0.59906	0.23	5.79	5.79	0.91817	.	.	.	.	.	T	0.39708	0.1088	.	.	.	0.27515	N	0.951586	.	.	.	.	.	.	T	0.11446	-1.0587	6	0.02654	T	1	.	18.2073	0.89859	0.0:0.0:1.0:0.0	.	.	.	.	F	1233	ENSP00000368308:S1233F	ENSP00000368308:S1233F	S	-	2	0	NRCAM	107578414	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.479000	0.66813	2.725000	0.93324	0.555000	0.69702	TCT	NRCAM	-	NULL	ENSG00000091129		0.299	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	38	0.00	0	G	NM_001037132		107791178	107791178	-1	no_errors	ENST00000379022	ensembl	human	known	69_37n	missense	50	35.90	28	SNP	1.000	A
NRN1L	123904	genome.wustl.edu	37	16	67920004	67920004	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:67920004C>T	ENST00000339176.3	+	3	439	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000576147.1_Silent_p.L40L	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	114					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		CTTGCACACTCTGTGCGGTGC	0.652																																						dbGAP											0													42.0	38.0	39.0					16																	67920004		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.340C>T	16.37:g.67920004C>T			Q6UWH7	Silent	SNP	NULL	p.L114	ENST00000339176.3	37	c.340	CCDS10850.1	16																																																																																			NRN1L	-	NULL	ENSG00000188038		0.652	NRN1L-001	KNOWN	basic|CCDS	protein_coding	NRN1L	HGNC	protein_coding	OTTHUMT00000268872.2	20	0.00	0	C	NM_198443		67920004	67920004	+1	no_errors	ENST00000339176	ensembl	human	known	69_37n	silent	13	48.00	12	SNP	0.067	T
NTRK2	4915	genome.wustl.edu	37	9	87570324	87570324	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:87570324C>T	ENST00000323115.4	+	15	2369	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	NTRK2_ENST00000376214.1_Silent_p.F688F|NTRK2_ENST00000376213.1_Silent_p.F672F|NTRK2_ENST00000277120.3_Silent_p.F688F			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	672	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CCCAGCACTTCGTGCACCGCG	0.617										TSP Lung(25;0.17)																												dbGAP											0													57.0	54.0	55.0					9																	87570324		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2016C>T	9.37:g.87570324C>T			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.F688	ENST00000323115.4	37	c.2064	CCDS35050.1	9																																																																																			NTRK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000148053		0.617	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	39	0.00	0	C			87570324	87570324	+1	no_errors	ENST00000277120	ensembl	human	known	69_37n	silent	10	54.55	12	SNP	0.972	T
NUDCD1	84955	genome.wustl.edu	37	8	110305595	110305595	+	Silent	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:110305595G>T	ENST00000239690.4	-	4	992	c.618C>A	c.(616-618)gtC>gtA	p.V206V	NUDCD1_ENST00000427660.2_Silent_p.V177V	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TACTGATAGTGACCCACTCCA	0.358																																						dbGAP											0													112.0	116.0	115.0					8																	110305595		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.618C>A	8.37:g.110305595G>T				Silent	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.V206	ENST00000239690.4	37	c.618	CCDS6312.1	8																																																																																			NUDCD1	-	NULL	ENSG00000120526		0.358	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD1	HGNC	protein_coding	OTTHUMT00000380996.1	74	0.00	0	G	NM_032869		110305595	110305595	-1	no_errors	ENST00000239690	ensembl	human	known	69_37n	silent	50	33.33	25	SNP	1.000	T
NUMA1	4926	genome.wustl.edu	37	11	71725099	71725099	+	Silent	SNP	G	G	C	rs143116557		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:71725099G>C	ENST00000393695.3	-	15	3781	c.3450C>G	c.(3448-3450)ctC>ctG	p.L1150L	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.L1150L	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTCAGCCTCGAGGCTGCGTT	0.647			T	RARA	APL																																	dbGAP		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													51.0	51.0	51.0					11																	71725099		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3450C>G	11.37:g.71725099G>C				Silent	SNP	superfamily_Prefoldin	p.L1150	ENST00000393695.3	37	c.3450	CCDS31633.1	11																																																																																			NUMA1	-	NULL	ENSG00000137497		0.647	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	20	0.00	0	G			71725099	71725099	-1	no_errors	ENST00000393695	ensembl	human	known	69_37n	silent	9	47.06	8	SNP	0.004	C
NUP107	57122	genome.wustl.edu	37	12	69126506	69126506	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:69126506G>A	ENST00000229179.4	+	23	2420	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	NUP107_ENST00000539906.1_Missense_Mutation_p.M667I|NUP107_ENST00000401003.3_3'UTR|NUP107_ENST00000378905.2_Missense_Mutation_p.M457I	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	696					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ATGCAATTATGAGAAAATTCT	0.418																																						dbGAP											0													66.0	76.0	72.0					12																	69126506		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2088G>A	12.37:g.69126506G>A	ENSP00000229179:p.Met696Ile		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.M696I	ENST00000229179.4	37	c.2088	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277271	0.23307	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.07	5.07	0.68467	.	0.033869	0.85682	D	0.000000	T	0.68375	0.2994	L	0.39326	1.205	0.36365	D	0.860976	B;P;B	0.45531	0.062;0.86;0.022	B;D;B	0.63381	0.038;0.914;0.038	T	0.68243	-0.5460	8	.	.	.	-22.6975	19.3514	0.94389	0.0:0.0:1.0:0.0	.	667;457;696	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	I	696;457;667	.	.	M	+	3	0	NUP107	67412773	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	8.814000	0.91968	2.746000	0.94184	0.563000	0.77884	ATG	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.418	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	34	0.00	0	G	NM_020401		69126506	69126506	+1	no_errors	ENST00000229179	ensembl	human	known	69_37n	missense	54	28.95	22	SNP	1.000	A
NXF1	10482	genome.wustl.edu	37	11	62567905	62567905	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:62567905G>C	ENST00000532297.1	-	11	1589	c.960C>G	c.(958-960)ctC>ctG	p.L320L	NXF1_ENST00000294172.2_Silent_p.L320L|NXF1_ENST00000531709.2_Silent_p.L320L|NXF1_ENST00000531131.1_Silent_p.L183L|NXF1_ENST00000439713.2_Silent_p.L320L			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	320					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCGAGCCAGAGCTCTTCTA	0.552																																						dbGAP											0													168.0	117.0	135.0					11																	62567905		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.960C>G	11.37:g.62567905G>C			B4E269|Q99799|Q9UQL2	Silent	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.L320	ENST00000532297.1	37	c.960	CCDS8037.1	11																																																																																			NXF1	-	NULL	ENSG00000162231		0.552	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	140	0.00	0	G	NM_006362		62567905	62567905	-1	no_errors	ENST00000294172	ensembl	human	known	69_37n	silent	82	33.87	42	SNP	0.998	C
OAS2	4939	genome.wustl.edu	37	12	113425038	113425038	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:113425038G>C	ENST00000342315.4	+	2	587	c.373G>C	c.(373-375)Gat>Cat	p.D125H	OAS2_ENST00000449768.2_Missense_Mutation_p.D125H|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.D125H	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	125	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAAGTCCCTTGATGGGTTCAC	0.473																																					Pancreas(199;709 2232 18410 33584 35052)	dbGAP											0													71.0	72.0	72.0					12																	113425038		2203	4300	6503	-	-	-	SO:0001583	missense	0			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.373G>C	12.37:g.113425038G>C	ENSP00000342278:p.Asp125His		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.D125H	ENST00000342315.4	37	c.373	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732483	0.30684	.	.	ENSG00000111335	ENST00000342315;ENST00000392583;ENST00000449768	T;T;T	0.07567	3.18;3.18;3.18	3.13	2.23	0.28157	.	.	.	.	.	T	0.13200	0.0320	L	0.36672	1.1	0.09310	N	1	B;P;D	0.64830	0.003;0.911;0.994	B;P;P	0.59643	0.002;0.562;0.861	T	0.16482	-1.0401	9	0.39692	T	0.17	-38.9143	6.2889	0.21049	0.1435:0.0:0.8565:0.0	.	125;125;125	P29728;P29728-2;Q6PJ33	OAS2_HUMAN;.;.	H	125	ENSP00000342278:D125H;ENSP00000376362:D125H;ENSP00000411763:D125H	ENSP00000342278:D125H	D	+	1	0	OAS2	111909421	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.419000	0.07071	0.651000	0.30788	0.655000	0.94253	GAT	OAS2	-	NULL	ENSG00000111335		0.473	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	43	0.00	0	G			113425038	113425038	+1	no_errors	ENST00000342315	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	0.000	C
OBP2B	29989	genome.wustl.edu	37	9	136083930	136083930	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:136083930C>G	ENST00000372034.3	-	2	173	c.132G>C	c.(130-132)agG>agC	p.R44S	OBP2B_ENST00000372032.2_Intron|OBP2B_ENST00000461961.1_Intron	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	44					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TCCTGGGCCTCCTGTCCTCCG	0.627																																						dbGAP											0													58.0	56.0	57.0					9																	136083930		2203	4297	6500	-	-	-	SO:0001583	missense	0			AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.132G>C	9.37:g.136083930C>G	ENSP00000361104:p.Arg44Ser		Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland,prints_PstgldnD_synth	p.R44S	ENST00000372034.3	37	c.132	CCDS6961.1	9	.	.	.	.	.	.	.	.	.	.	C	7.799	0.713159	0.15306	.	.	ENSG00000171102	ENST00000372034	T	0.07114	3.22	2.31	1.33	0.21861	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.514570	0.04179	N	0.326082	T	0.07999	0.0200	L	0.40543	1.245	0.09310	N	0.999995	P	0.36086	0.536	B	0.31101	0.124	T	0.36286	-0.9754	10	0.44086	T	0.13	-16.7749	6.6627	0.23022	0.0:0.6993:0.3007:0.0	.	44	Q9NPH6	OBP2B_HUMAN	S	44	ENSP00000361104:R44S	ENSP00000361104:R44S	R	-	3	2	OBP2B	135073751	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.121000	0.10643	0.250000	0.21479	-0.494000	0.04653	AGG	OBP2B	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000171102		0.627	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBP2B	HGNC	protein_coding	OTTHUMT00000054851.1	166	0.00	0	C	NM_014581		136083930	136083930	-1	no_errors	ENST00000372034	ensembl	human	known	69_37n	missense	20	43.24	16	SNP	0.003	G
OBSCN	84033	genome.wustl.edu	37	1	228509154	228509154	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:228509154C>G	ENST00000422127.1	+	55	14656	c.14612C>G	c.(14611-14613)tCa>tGa	p.S4871*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S4871*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S2505*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S1990*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.S5828*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4871					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTGATCCCTCAATGGACAAG	0.592																																						dbGAP											0													30.0	34.0	33.0					1																	228509154		2031	4176	6207	-	-	-	SO:0001587	stop_gained	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14612C>G	1.37:g.228509154C>G	ENSP00000409493:p.Ser4871*		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S4871*	ENST00000422127.1	37	c.14612	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	63	75.477086	0.99993	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.	.	.	5.34	2.44	0.29823	.	0.610221	0.16341	N	0.218664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.8994	0.24275	0.1316:0.6722:0.1267:0.0695	.	.	.	.	X	4871;4871;2505;1990	.	ENSP00000284548:S4871X	S	+	2	0	OBSCN	226575777	0.276000	0.24211	0.000000	0.03702	0.009000	0.06853	2.081000	0.41596	0.248000	0.21435	-0.136000	0.14681	TCA	OBSCN	-	smart_IQ_motif_EF-hand-BS	ENSG00000154358		0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		15	0.00	0	C	NM_052843		228509154	228509154	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	nonsense	25	30.56	11	SNP	0.001	G
TENM3	55714	genome.wustl.edu	37	4	183713521	183713521	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:183713521G>C	ENST00000511685.1	+	26	5819	c.5696G>C	c.(5695-5697)cGc>cCc	p.R1899P	TENM3_ENST00000406950.2_Missense_Mutation_p.R1899P			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1899					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGTGTGGCTCGCCACACCATG	0.542																																						dbGAP											0													68.0	73.0	71.0					4																	183713521		2035	4194	6229	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5696G>C	4.37:g.183713521G>C	ENSP00000424226:p.Arg1899Pro		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1899P	ENST00000511685.1	37	c.5696	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133400	0.77662	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86956	-2.19;-2.19	5.18	5.18	0.71444	.	.	.	.	.	D	0.93562	0.7945	M	0.81942	2.565	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.92613	0.6101	9	0.39692	T	0.17	.	18.8905	0.92399	0.0:0.0:1.0:0.0	.	1899	Q9P273	TEN3_HUMAN	P	1899	ENSP00000424226:R1899P;ENSP00000385276:R1899P	ENSP00000385276:R1899P	R	+	2	0	ODZ3	183950515	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.623000	0.98386	2.688000	0.91661	0.591000	0.81541	CGC	ODZ3	-	NULL	ENSG00000218336		0.542	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	45	0.00	0	G			183713521	183713521	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	C
OGT	8473	genome.wustl.edu	37	X	70787538	70787538	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:70787538C>G	ENST00000373719.3	+	20	2995	c.2778C>G	c.(2776-2778)ctC>ctG	p.L926L	OGT_ENST00000373701.3_Silent_p.L916L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	926					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACACTCCACTCTGTAATGGGC	0.527																																						dbGAP											0													90.0	66.0	74.0					X																	70787538		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2778C>G	X.37:g.70787538C>G			Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L926	ENST00000373719.3	37	c.2778	CCDS14414.1	X																																																																																			OGT	-	NULL	ENSG00000147162		0.527	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	57	0.00	0	C	NM_003605, NM_181672		70787538	70787538	+1	no_errors	ENST00000373719	ensembl	human	known	69_37n	silent	40	34.43	21	SNP	0.351	G
OLFML2B	25903	genome.wustl.edu	37	1	161967971	161967971	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:161967971G>A	ENST00000294794.3	-	6	1541	c.1118C>T	c.(1117-1119)tCa>tTa	p.S373L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.S374L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	373					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGGCAGTGCTGAGGACCAGGG	0.627																																						dbGAP											0													151.0	158.0	155.0					1																	161967971		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1118C>T	1.37:g.161967971G>A	ENSP00000294794:p.Ser373Leu		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	p.S373L	ENST00000294794.3	37	c.1118	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566279	0.27915	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.87103	-2.21;-2.21	4.09	3.12	0.35913	.	.	.	.	.	T	0.59418	0.2192	N	0.08118	0	0.30231	N	0.795892	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.49476	-0.8936	8	0.29301	T	0.29	.	10.9111	0.47110	0.0:0.0:0.8127:0.1873	.	374;373	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	L	373;374	ENSP00000294794:S373L;ENSP00000356917:S374L	ENSP00000294794:S373L	S	-	2	0	OLFML2B	160234595	0.000000	0.05858	0.008000	0.14137	0.012000	0.07955	0.515000	0.22801	2.089000	0.63090	0.462000	0.41574	TCA	OLFML2B	-	NULL	ENSG00000162745		0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	88	0.00	0	G	NM_015441		161967971	161967971	-1	no_errors	ENST00000294794	ensembl	human	known	69_37n	missense	72	29.41	30	SNP	0.006	A
OPN1MW	2652	genome.wustl.edu	37	X	153461463	153461463	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:153461463G>A	ENST00000369935.5	+	6	1087	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N		NM_000513.2	NP_000504.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive	343					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAGGTTGACGATGGCTCTGA	0.562																																						dbGAP											0													1.0	1.0	1.0					X																	153461463		170	390	560	-	-	-	SO:0001583	missense	0			K03494	CCDS14743.1	Xq28	2013-01-08	2008-04-16		ENSG00000147380	ENSG00000268221		"""GPCR / Class A : Opsin receptors"""	4206	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300821	"""color blindness, deutan"", ""green cone photoreceptor pigment"""	GCP, CBBM, CBD			Standard	NM_000513		Approved	OPN1MW1, COD5	uc004fkb.3	P04001	OTTHUMG00000022652	ENST00000369935.5:c.1027G>A	X.37:g.153461463G>A	ENSP00000358951:p.Asp343Asn			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Opsin_red/grn,prints_7TM_GPCR_Rhodpsn,prints_Opsin,pfscan_GPCR_Rhodpsn_supfam	p.D343N	ENST00000369935.5	37	c.1027	CCDS14743.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.170305|4.170305	0.78452|0.78452	.|.	.|.	ENSG00000147380|ENSG00000147380	ENST00000369935|ENST00000430054	T|.	0.36520|.	1.25|.	2.71|2.71	2.71|2.71	0.32032|0.32032	.|.	0.168263|.	0.50627|.	D|.	0.000116|.	T|T	0.76730|0.76730	0.4028|0.4028	M|M	0.86502|0.86502	2.82|2.82	0.53005|0.53005	D|D	0.999963|0.999963	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.79928|0.79928	-0.1596|-0.1596	10|5	0.87932|.	D|.	0|.	.|.	12.4162|12.4162	0.55494|0.55494	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	343|.	P04001|.	OPSG_HUMAN|.	N|Q	343|142	ENSP00000358951:D343N|.	ENSP00000358951:D343N|.	D|R	+|+	1|2	0|0	OPN1MW|OPN1MW	153114657|153114657	1.000000|1.000000	0.71417|0.71417	0.395000|0.395000	0.26283|0.26283	0.860000|0.860000	0.49131|0.49131	8.405000|8.405000	0.90213|0.90213	1.301000|1.301000	0.44836|0.44836	0.358000|0.358000	0.22013|0.22013	GAT|CGA	OPN1MW	-	prints_Opsin_red/grn	ENSG00000147380		0.562	OPN1MW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1MW	HGNC	protein_coding	OTTHUMT00000058771.3	51	0.00	0	G	NM_000513		153461463	153461463	+1	no_errors	ENST00000369935	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	1.000	A
OR10AG1	282770	genome.wustl.edu	37	11	55735721	55735721	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:55735721G>C	ENST00000312345.2	-	1	269	c.219C>G	c.(217-219)ctC>ctG	p.L73L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATGTCCATGAGCATTCTTG	0.373																																						dbGAP											0													73.0	80.0	78.0					11																	55735721		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.219C>G	11.37:g.55735721G>C			B2RNH4|Q6IEU3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L73	ENST00000312345.2	37	c.219	CCDS31514.1	11																																																																																			OR10AG1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000174970		0.373	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	41	0.00	0	G	NM_001005491		55735721	55735721	-1	no_errors	ENST00000312345	ensembl	human	known	69_37n	silent	41	41.43	29	SNP	0.009	C
OR2C1	4993	genome.wustl.edu	37	16	3406243	3406243	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:3406243C>G	ENST00000304936.2	+	1	355	c.303C>G	c.(301-303)ctC>ctG	p.L101L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	101					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TAACCCAGCTCTATGTCTTCC	0.572																																						dbGAP											0													64.0	51.0	56.0					16																	3406243		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.303C>G	16.37:g.3406243C>G			A0AVA4|Q6IF34|Q6IF55	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L101	ENST00000304936.2	37	c.303	CCDS10502.1	16																																																																																			OR2C1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000168158		0.572	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C1	HGNC	protein_coding	OTTHUMT00000206993.3	76	0.00	0	C			3406243	3406243	+1	no_errors	ENST00000304936	ensembl	human	known	69_37n	silent	51	39.29	33	SNP	0.875	G
OR2T6	254879	genome.wustl.edu	37	1	248551041	248551041	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:248551041C>T	ENST00000355728.2	+	1	132	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAATGGGGTCATGATCTTCC	0.468																																						dbGAP											0													221.0	182.0	195.0					1																	248551041		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.132C>T	1.37:g.248551041C>T			A6NE36	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V44	ENST00000355728.2	37	c.132	CCDS31114.1	1																																																																																			OR2T6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000198104		0.468	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	91	0.00	0	C	NM_001005471		248551041	248551041	+1	no_errors	ENST00000355728	ensembl	human	known	69_37n	silent	262	26.33	94	SNP	0.000	T
OR4E2	26686	genome.wustl.edu	37	14	22134074	22134074	+	Missense_Mutation	SNP	C	C	G	rs370388172		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:22134074C>G	ENST00000408935.1	+	1	778	c.778C>G	c.(778-780)Cgg>Ggg	p.R260G		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CATCTATACTCGGCCAGACAC	0.512																																						dbGAP											0													74.0	72.0	73.0					14																	22134074		1936	4136	6072	-	-	-	SO:0001583	missense	0				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.778C>G	14.37:g.22134074C>G	ENSP00000386195:p.Arg260Gly		Q6IET6|Q96R62	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R260G	ENST00000408935.1	37	c.778	CCDS41916.1	14	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921292	0.52653	.	.	ENSG00000221977	ENST00000408935	T	0.35973	1.28	5.68	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.579760	0.13087	U	0.414827	T	0.60143	0.2246	M	0.85462	2.755	0.34848	D	0.741369	D	0.64830	0.994	D	0.70935	0.971	T	0.67217	-0.5726	10	0.87932	D	0	.	7.2781	0.26296	0.2973:0.6237:0.0:0.079	.	260	Q8NGC2	OR4E2_HUMAN	G	260	ENSP00000386195:R260G	ENSP00000386195:R260G	R	+	1	2	OR4E2	21203914	0.000000	0.05858	0.999000	0.59377	0.982000	0.71751	0.477000	0.22196	0.799000	0.34018	0.655000	0.94253	CGG	OR4E2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221977		0.512	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4E2	HGNC	protein_coding	OTTHUMT00000401874.1	78	0.00	0	C			22134074	22134074	+1	no_errors	ENST00000408935	ensembl	human	known	69_37n	missense	52	35.80	29	SNP	0.995	G
OR52M1	119772	genome.wustl.edu	37	11	4566888	4566888	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:4566888C>G	ENST00000360213.1	+	1	468	c.468C>G	c.(466-468)ctC>ctG	p.L156L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGTGTTCTCTACATTGGAC	0.532																																						dbGAP											0													98.0	98.0	98.0					11																	4566888		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.468C>G	11.37:g.4566888C>G				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L156	ENST00000360213.1	37	c.468	CCDS31353.1	11																																																																																			OR52M1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197790		0.532	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52M1	HGNC	protein_coding	OTTHUMT00000385847.1	154	0.00	0	C	NM_001004137		4566888	4566888	+1	no_errors	ENST00000360213	ensembl	human	known	69_37n	silent	55	43.88	43	SNP	1.000	G
OR51A7	119687	genome.wustl.edu	37	11	4928765	4928765	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:4928765C>T	ENST00000359350.4	+	1	166	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCTCGCTTCATGAGCCCAT	0.493																																						dbGAP											0													174.0	154.0	160.0					11																	4928765		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.166C>T	11.37:g.4928765C>T	ENSP00000352305:p.His56Tyr		Q6IFH8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H56Y	ENST00000359350.4	37	c.166	CCDS31364.1	11	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531323	0.45073	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.15952	2.38	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000162	T	0.40645	0.1125	M	0.92604	3.325	0.27707	N	0.945593	B	0.30664	0.289	B	0.40477	0.33	T	0.45571	-0.9252	10	0.72032	D	0.01	.	17.069	0.86568	0.0:1.0:0.0:0.0	.	56	Q8NH64	O51A7_HUMAN	Y	56;56;45	ENSP00000352305:H56Y	ENSP00000352305:H56Y	H	+	1	0	OR51A7	4885341	0.983000	0.35010	0.979000	0.43373	0.772000	0.43724	4.135000	0.57997	2.596000	0.87737	0.655000	0.94253	CAT	OR51A7	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176895		0.493	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	117	0.00	0	C	NM_001004749		4928765	4928765	+1	no_errors	ENST00000359350	ensembl	human	known	69_37n	missense	75	43.18	57	SNP	0.999	T
OR5D14	219436	genome.wustl.edu	37	11	55563652	55563652	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:55563652C>T	ENST00000335605.1	+	1	621	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCGCCACCTTCAATGAGATGT	0.433																																						dbGAP											0													210.0	198.0	202.0					11																	55563652		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.621C>T	11.37:g.55563652C>T			Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F207	ENST00000335605.1	37	c.621	CCDS31508.1	11																																																																																			OR5D14	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186113		0.433	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	110	0.00	0	C	NM_001004735		55563652	55563652	+1	no_errors	ENST00000335605	ensembl	human	known	69_37n	silent	104	44.09	82	SNP	0.177	T
OR5AK2	390181	genome.wustl.edu	37	11	56756549	56756549	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:56756549G>C	ENST00000326855.2	+	1	203	c.161G>C	c.(160-162)aGa>aCa	p.R54T		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ACAGATTCCAGATTTCAAACA	0.373																																						dbGAP											0													119.0	106.0	110.0					11																	56756549		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.161G>C	11.37:g.56756549G>C	ENSP00000322784:p.Arg54Thr		B2RNZ9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R54T	ENST00000326855.2	37	c.161	CCDS31538.1	11	.	.	.	.	.	.	.	.	.	.	G	4.101	0.016754	0.07959	.	.	ENSG00000181273	ENST00000326855	T	0.00444	7.4	3.66	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37053	U	0.002272	T	0.00328	0.0010	L	0.49778	1.585	0.09310	N	1	B	0.16396	0.017	B	0.16289	0.015	T	0.47995	-0.9073	10	0.66056	D	0.02	-5.4054	4.0396	0.09745	0.202:0.2127:0.5853:0.0	.	54	Q8NH90	O5AK2_HUMAN	T	54	ENSP00000322784:R54T	ENSP00000322784:R54T	R	+	2	0	OR5AK2	56513125	0.000000	0.05858	0.125000	0.21846	0.249000	0.25844	0.059000	0.14322	0.840000	0.34995	0.194000	0.17425	AGA	OR5AK2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181273		0.373	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AK2	HGNC	protein_coding	OTTHUMT00000392446.1	136	0.00	0	G	NM_001005323		56756549	56756549	+1	no_errors	ENST00000326855	ensembl	human	known	69_37n	missense	81	47.74	74	SNP	0.013	C
OR5A1	219982	genome.wustl.edu	37	11	59211132	59211132	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:59211132G>A	ENST00000302030.2	+	1	516	c.491G>A	c.(490-492)aGc>aAc	p.S164N		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCCAGGCCAGCTCCATATTT	0.557																																						dbGAP											0													264.0	254.0	258.0					11																	59211132		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.491G>A	11.37:g.59211132G>A	ENSP00000303096:p.Ser164Asn		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S164N	ENST00000302030.2	37	c.491	CCDS31561.1	11	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357179	0.24598	.	.	ENSG00000172320	ENST00000302030	T	0.38077	1.16	5.98	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.518726	0.18905	N	0.127934	T	0.29588	0.0738	L	0.49256	1.55	0.09310	N	1	B	0.26602	0.154	B	0.34093	0.175	T	0.21245	-1.0251	10	0.28530	T	0.3	-3.2412	4.4906	0.11812	0.0717:0.2714:0.42:0.2369	.	164	Q8NGJ0	OR5A1_HUMAN	N	164	ENSP00000303096:S164N	ENSP00000303096:S164N	S	+	2	0	OR5A1	58967708	0.000000	0.05858	0.981000	0.43875	0.564000	0.35744	-0.689000	0.05144	0.385000	0.24970	0.650000	0.86243	AGC	OR5A1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172320		0.557	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5A1	HGNC	protein_coding	OTTHUMT00000394233.1	138	0.00	0	G	NM_001004728		59211132	59211132	+1	no_errors	ENST00000302030	ensembl	human	known	69_37n	missense	73	38.66	46	SNP	0.040	A
OR6B1	135946	genome.wustl.edu	37	7	143701587	143701587	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:143701587C>G	ENST00000408922.2	+	1	566	c.498C>G	c.(496-498)ctC>ctG	p.L166L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCTCCTGCCTCAGCTTCTGTG	0.507																																						dbGAP											0													99.0	98.0	98.0					7																	143701587		2096	4256	6352	-	-	-	SO:0001819	synonymous_variant	0				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.498C>G	7.37:g.143701587C>G			A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L166	ENST00000408922.2	37	c.498	CCDS43667.1	7																																																																																			OR6B1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221813		0.507	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	100	0.00	0	C			143701587	143701587	+1	no_errors	ENST00000408922	ensembl	human	known	69_37n	silent	108	27.52	41	SNP	0.004	G
OR6B1	135946	genome.wustl.edu	37	7	143701667	143701667	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:143701667C>G	ENST00000408922.2	+	1	646	c.578C>G	c.(577-579)tCc>tGc	p.S193C		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ACAGACATGTCCATAACTGAG	0.453																																						dbGAP											0													165.0	158.0	160.0					7																	143701667		2021	4216	6237	-	-	-	SO:0001583	missense	0				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.578C>G	7.37:g.143701667C>G	ENSP00000386151:p.Ser193Cys		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S193C	ENST00000408922.2	37	c.578	CCDS43667.1	7	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715482	0.48622	.	.	ENSG00000221813	ENST00000408922	T	0.00179	8.61	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35970	U	0.002873	T	0.00608	0.0020	M	0.89785	3.06	0.31221	N	0.697425	D	0.58268	0.982	D	0.68353	0.957	T	0.07751	-1.0756	10	0.66056	D	0.02	.	9.5488	0.39297	0.0:0.9074:0.0:0.0926	.	193	O95007	OR6B1_HUMAN	C	193	ENSP00000386151:S193C	ENSP00000386151:S193C	S	+	2	0	OR6B1	143332600	0.000000	0.05858	0.981000	0.43875	0.992000	0.81027	0.160000	0.16462	2.683000	0.91414	0.655000	0.94253	TCC	OR6B1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221813		0.453	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	132	0.00	0	C			143701667	143701667	+1	no_errors	ENST00000408922	ensembl	human	known	69_37n	missense	120	28.14	47	SNP	0.789	G
OR8J1	219477	genome.wustl.edu	37	11	56127883	56127883	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:56127883G>A	ENST00000303039.3	+	1	193	c.161G>A	c.(160-162)cGa>cAa	p.R54Q		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GTTGACTCTCGACTTCAAACC	0.478																																						dbGAP											0													172.0	154.0	160.0					11																	56127883		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.161G>A	11.37:g.56127883G>A	ENSP00000304060:p.Arg54Gln		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R54Q	ENST00000303039.3	37	c.161	CCDS31529.1	11	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862213	0.32884	.	.	ENSG00000172487	ENST00000303039	T	0.01119	5.31	4.57	-0.34	0.12643	GPCR, rhodopsin-like superfamily (1);	0.400945	0.21579	N	0.072267	T	0.00998	0.0033	L	0.35341	1.055	0.09310	N	1	B	0.25235	0.121	B	0.17979	0.02	T	0.48592	-0.9022	10	0.25751	T	0.34	.	8.4084	0.32629	0.5606:0.0:0.4394:0.0	.	54	Q8NGP2	OR8J1_HUMAN	Q	54	ENSP00000304060:R54Q	ENSP00000304060:R54Q	R	+	2	0	OR8J1	55884459	0.000000	0.05858	0.383000	0.26132	0.982000	0.71751	-0.896000	0.04114	-0.032000	0.13758	0.643000	0.83706	CGA	OR8J1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172487		0.478	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J1	HGNC	protein_coding	OTTHUMT00000391606.2	144	0.00	0	G	NM_001005205		56127883	56127883	+1	no_errors	ENST00000303039	ensembl	human	known	69_37n	missense	93	46.24	80	SNP	0.012	A
ORC4	5000	genome.wustl.edu	37	2	148710034	148710034	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:148710034G>A	ENST00000392857.5	-	8	603	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	ORC4_ENST00000536575.1_Missense_Mutation_p.H82Y|ORC4_ENST00000392858.1_Missense_Mutation_p.H166Y|ORC4_ENST00000535373.1_Missense_Mutation_p.H166Y|ORC4_ENST00000542387.1_Intron|ORC4_ENST00000264169.2_Missense_Mutation_p.H166Y|ORC4_ENST00000540442.1_Missense_Mutation_p.H92Y	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	166					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TTTTTATGATGAGCAAAAAGA	0.328																																						dbGAP											0													97.0	103.0	101.0					2																	148710034		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.496C>T	2.37:g.148710034G>A	ENSP00000376597:p.His166Tyr		B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4	p.H166Y	ENST00000392857.5	37	c.496	CCDS2187.1	2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656214	0.47467	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	5.85	4.97	0.65823	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.257343	0.44097	D	0.000490	T	0.44912	0.1316	L	0.46885	1.475	0.80722	D	1	B;B;B	0.25904	0.137;0.137;0.137	B;B;B	0.26864	0.074;0.056;0.051	T	0.28427	-1.0044	10	0.11794	T	0.64	-10.0015	15.372	0.74573	0.068:0.0:0.932:0.0	.	166;166;166	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	Y	166;166;166;92;82;166	ENSP00000264169:H166Y;ENSP00000441953:H166Y;ENSP00000376598:H166Y;ENSP00000438326:H92Y;ENSP00000441502:H82Y;ENSP00000376597:H166Y	ENSP00000264169:H166Y	H	-	1	0	ORC4	148426504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.731000	0.62022	2.772000	0.95346	0.585000	0.79938	CAT	ORC4	-	pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4	ENSG00000115947		0.328	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC4	HGNC	protein_coding	OTTHUMT00000254797.3	102	0.00	0	G	NM_181742		148710034	148710034	-1	no_errors	ENST00000264169	ensembl	human	known	69_37n	missense	71	36.61	41	SNP	1.000	A
OSGEPL1	64172	genome.wustl.edu	37	2	190615347	190615347	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:190615347C>G	ENST00000264151.5	-	8	1304	c.1202G>C	c.(1201-1203)gGa>gCa	p.G401A	Y_RNA_ENST00000411317.1_RNA|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.G401A|OSGEPL1_ENST00000519810.1_3'UTR	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GGAAGCTTCTCCAACTTCTTT	0.323																																						dbGAP											0													56.0	54.0	54.0					2																	190615347		1806	4063	5869	-	-	-	SO:0001583	missense	0			AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.1202G>C	2.37:g.190615347C>G	ENSP00000264151:p.Gly401Ala			Missense_Mutation	SNP	pfam_Peptidase_M22,prints_Peptidase_M22_subgr,tigrfam_Peptidase_M22_subgr	p.G401A	ENST00000264151.5	37	c.1202	CCDS46472.1	2	.	.	.	.	.	.	.	.	.	.	C	8.111	0.778865	0.16120	.	.	ENSG00000128694	ENST00000264151;ENST00000522700	T;T	0.39592	1.07;1.07	5.97	-3.32	0.04973	.	0.515391	0.22386	N	0.060747	T	0.18509	0.0444	N	0.17474	0.49	0.22851	N	0.998654	B	0.02656	0.0	B	0.01281	0.0	T	0.25710	-1.0124	10	0.12766	T	0.61	-1.5637	7.6688	0.28447	0.0:0.2697:0.3893:0.341	.	401	Q9H4B0	OSGP2_HUMAN	A	401	ENSP00000264151:G401A;ENSP00000429697:G401A	ENSP00000264151:G401A	G	-	2	0	OSGEPL1	190323592	0.453000	0.25721	0.945000	0.38365	0.956000	0.61745	-0.536000	0.06135	-0.645000	0.05458	-0.794000	0.03295	GGA	OSGEPL1	-	NULL	ENSG00000128694		0.323	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSGEPL1	HGNC	protein_coding	OTTHUMT00000377257.1	38	0.00	0	C	NM_022353		190615347	190615347	-1	no_errors	ENST00000264151	ensembl	human	known	69_37n	missense	67	43.22	51	SNP	0.836	G
OTOP3	347741	genome.wustl.edu	37	17	72943193	72943193	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:72943193G>C	ENST00000328801.4	+	6	1243	c.1243G>C	c.(1243-1245)Gat>Cat	p.D415H		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	415						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCGCAGCCTGGATGTGGTGCT	0.627																																						dbGAP											0													95.0	93.0	94.0					17																	72943193		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1243G>C	17.37:g.72943193G>C	ENSP00000328090:p.Asp415His			Missense_Mutation	SNP	pfam_Otopetrin	p.D415H	ENST00000328801.4	37	c.1243	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099119	0.76983	.	.	ENSG00000182938	ENST00000328801	T	0.31247	1.5	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000001	T	0.61135	0.2323	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70197	-0.4938	10	0.87932	D	0	-21.0476	17.2793	0.87124	0.0:0.0:1.0:0.0	.	415	Q7RTS5	OTOP3_HUMAN	H	415	ENSP00000328090:D415H	ENSP00000328090:D415H	D	+	1	0	OTOP3	70454788	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.776000	0.99001	2.073000	0.62155	0.462000	0.41574	GAT	OTOP3	-	pfam_Otopetrin	ENSG00000182938		0.627	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	46	0.00	0	G	NM_178233		72943193	72943193	+1	no_errors	ENST00000328801	ensembl	human	known	69_37n	missense	6	76.00	19	SNP	1.000	C
OTUD4	54726	genome.wustl.edu	37	4	146059276	146059276	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:146059276G>A	ENST00000447906.2	-	21	2838	c.2651C>T	c.(2650-2652)tCt>tTt	p.S884F	OTUD4_ENST00000454497.2_Missense_Mutation_p.S819F|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	884					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTTTTCATCAGAGGGCAGGAC	0.423																																						dbGAP											0													41.0	41.0	41.0					4																	146059276		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2651C>T	4.37:g.146059276G>A	ENSP00000395487:p.Ser884Phe		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.S884F	ENST00000447906.2	37	c.2651		4	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000511	0.74818	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.33216	1.42;1.42	5.89	5.89	0.94794	.	0.258636	0.33217	N	0.005145	T	0.27559	0.0677	N	0.14661	0.345	0.80722	D	1	P;P	0.46220	0.874;0.8	B;B	0.44224	0.444;0.259	T	0.07366	-1.0776	10	0.87932	D	0	-7.0559	20.2561	0.98419	0.0:0.0:1.0:0.0	.	884;883	G3V0I6;Q01804	.;OTUD4_HUMAN	F	819;884	ENSP00000409279:S819F;ENSP00000395487:S884F	ENSP00000395487:S884F	S	-	2	0	OTUD4	146278726	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	6.473000	0.73572	2.797000	0.96272	0.563000	0.77884	TCT	OTUD4	-	NULL	ENSG00000164164		0.423	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	27	0.00	0	G	NM_017493		146059276	146059276	-1	no_errors	ENST00000447906	ensembl	human	known	69_37n	missense	1	92.86	13	SNP	1.000	A
OTUD7B	56957	genome.wustl.edu	37	1	149916418	149916418	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:149916418G>C	ENST00000369135.4	-	12	2164	c.1870C>G	c.(1870-1872)Cag>Gag	p.Q624E		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	624					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ATTTCCTCCTGATACTGGTGA	0.507																																						dbGAP											0													149.0	151.0	150.0					1																	149916418		2017	4195	6212	-	-	-	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1870C>G	1.37:g.149916418G>C	ENSP00000358131:p.Gln624Glu		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.Q624E	ENST00000369135.4	37	c.1870	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785582	0.70337	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.35605	1.3	4.81	4.81	0.61882	.	0.054852	0.85682	D	0.000000	T	0.23886	0.0578	L	0.43152	1.355	0.58432	D	0.999999	P	0.34546	0.456	B	0.39590	0.304	T	0.03818	-1.1001	9	.	.	.	-28.2352	17.0493	0.86514	0.0:0.0:1.0:0.0	.	624	Q6GQQ9	OTU7B_HUMAN	E	624	ENSP00000358131:Q624E	.	Q	-	1	0	OTUD7B	148183042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.218000	0.95166	2.498000	0.84270	0.557000	0.71058	CAG	OTUD7B	-	NULL	ENSG00000163113		0.507	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	55	0.00	0	G	NM_020205		149916418	149916418	-1	no_errors	ENST00000369135	ensembl	human	known	69_37n	missense	40	39.39	26	SNP	1.000	C
PA2G4	5036	genome.wustl.edu	37	12	56504429	56504429	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:56504429C>G	ENST00000303305.6	+	9	1214	c.795C>G	c.(793-795)ttC>ttG	p.F265L	PA2G4_ENST00000552766.1_Missense_Mutation_p.F265L|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	265					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CACGTGCCTTCTTCAGTGAGG	0.438																																						dbGAP											0													88.0	77.0	81.0					12																	56504429		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.795C>G	12.37:g.56504429C>G	ENSP00000302886:p.Phe265Leu		O43846|Q9UM59	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.F265L	ENST00000303305.6	37	c.795	CCDS8902.1	12	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632295	0.29068	.	.	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711	.	.	.	4.96	2.71	0.32032	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (1);	0.089181	0.85682	N	0.000000	T	0.28863	0.0716	N	0.20685	0.6	0.58432	D	0.999999	B;B;B	0.15473	0.001;0.013;0.008	B;B;B	0.23150	0.006;0.044;0.016	T	0.13469	-1.0508	9	0.02654	T	1	.	6.6725	0.23076	0.0:0.558:0.0:0.442	.	265;265;265	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	L	265;265;294;265;265	.	ENSP00000302886:F265L	F	+	3	2	PA2G4	54790696	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.578000	0.23773	0.934000	0.37316	0.655000	0.94253	TTC	PA2G4	-	superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	ENSG00000170515		0.438	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	HGNC	protein_coding	OTTHUMT00000407767.1	68	0.00	0	C	NM_006191		56504429	56504429	+1	no_errors	ENST00000303305	ensembl	human	known	69_37n	missense	50	34.62	27	SNP	1.000	G
AKAP2	11217	genome.wustl.edu	37	9	112899674	112899674	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:112899674C>T	ENST00000259318.7	+	2	1364	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	AKAP2_ENST00000555236.1_Missense_Mutation_p.S617L|AKAP2_ENST00000510514.5_Missense_Mutation_p.S617L|AKAP2_ENST00000374525.1_Missense_Mutation_p.S475L|AKAP2_ENST00000434623.2_Missense_Mutation_p.S475L|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S617L|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.S617L	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	386										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGTGGTGCCTCAGCCGCCAAG	0.612																																						dbGAP											0													57.0	63.0	61.0					9																	112899674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1157C>T	9.37:g.112899674C>T	ENSP00000259318:p.Ser386Leu		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.S617L	ENST00000259318.7	37	c.1850	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	C	8.064	0.768818	0.15983	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.47528	2.17;2.17;2.17;2.17;1.42;0.84;0.84;1.44	5.97	4.09	0.47781	.	1.492660	0.03841	N	0.270628	T	0.40448	0.1117	L	0.54323	1.7	0.09310	N	1	B;P;P;P;P;B;B;B	0.39782	0.418;0.688;0.501;0.688;0.561;0.082;0.082;0.049	B;B;B;B;B;B;B;B	0.30401	0.079;0.115;0.039;0.115;0.053;0.052;0.052;0.023	T	0.26744	-1.0094	10	0.09590	T	0.72	0.4193	10.0859	0.42417	0.1415:0.7874:0.0:0.0711	.	386;475;469;475;476;617;617;435	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	L	617;617;617;617;475;475;435;386	ENSP00000363654:S617L;ENSP00000305861:S617L;ENSP00000451476:S617L;ENSP00000421522:S617L;ENSP00000404782:S475L;ENSP00000363649:S475L;ENSP00000419268:S435L;ENSP00000259318:S386L	ENSP00000259318:S386L	S	+	2	0	PALM2-AKAP2;AKAP2	111939495	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	1.153000	0.31676	0.805000	0.34159	0.655000	0.94253	TCA	PALM2-AKAP2	-	NULL	ENSG00000157654		0.612	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	36	0.00	0	C	NM_001004065		112899674	112899674	+1	no_errors	ENST00000374530	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.051	T
PANK1	53354	genome.wustl.edu	37	10	91353679	91353679	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:91353679G>C	ENST00000307534.4	-	4	1533	c.1378C>G	c.(1378-1380)Ctg>Gtg	p.L460V	PANK1_ENST00000371774.2_Missense_Mutation_p.L262V|MIR107_ENST00000362127.1_RNA|PANK1_ENST00000342512.3_Missense_Mutation_p.L235V|PANK1_ENST00000322191.6_Intron	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	460					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						GCCATTTCCAGAGCTTCTTCA	0.423																																						dbGAP											0													141.0	126.0	131.0					10																	91353679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1378C>G	10.37:g.91353679G>C	ENSP00000302108:p.Leu460Val		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.L460V	ENST00000307534.4	37	c.1378	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393980	0.42410	.	.	ENSG00000152782	ENST00000342512;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D	0.99704	-6.46;-6.46;-6.46	6.17	5.26	0.73747	.	0.071895	0.64402	D	0.000020	D	0.99260	0.9742	M	0.88450	2.955	0.58432	D	0.999999	P;B;P	0.44344	0.833;0.316;0.728	B;B;B	0.41374	0.348;0.32;0.355	D	0.98383	1.0559	10	0.48119	T	0.1	.	11.1173	0.48268	0.0655:0.0:0.8045:0.13	.	262;460;235	Q8TE04-4;Q8TE04;Q8TE04-2	.;PANK1_HUMAN;.	V	235;262;460;323	ENSP00000345118:L235V;ENSP00000360839:L262V;ENSP00000302108:L460V	ENSP00000302108:L460V	L	-	1	2	PANK1	91343659	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.026000	0.41069	1.595000	0.50050	0.655000	0.94253	CTG	PANK1	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000152782		0.423	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	HGNC	protein_coding		74	0.00	0	G			91353679	91353679	-1	no_errors	ENST00000307534	ensembl	human	known	69_37n	missense	34	48.48	32	SNP	1.000	C
PARP1	142	genome.wustl.edu	37	1	226555189	226555189	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:226555189C>T	ENST00000366794.5	-	17	2541	c.2398G>A	c.(2398-2400)Gac>Aac	p.D800N	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	800	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ACCTTAATGTCAGTTTTGAGC	0.507								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														dbGAP											0													199.0	174.0	183.0					1																	226555189		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2398G>A	1.37:g.226555189C>T	ENSP00000355759:p.Asp800Asn		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.D800N	ENST00000366794.5	37	c.2398	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.874057	0.51695	.	.	ENSG00000143799	ENST00000366794	T	0.14266	2.52	5.51	3.66	0.41972	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.179568	0.64402	N	0.000013	T	0.13500	0.0327	L	0.42529	1.33	0.80722	D	1	B	0.22146	0.065	B	0.27380	0.079	T	0.05162	-1.0902	10	0.33141	T	0.24	-14.3617	11.9425	0.52909	0.0:0.8595:0.0:0.1405	.	800	P09874	PARP1_HUMAN	N	800	ENSP00000355759:D800N	ENSP00000355759:D800N	D	-	1	0	PARP1	224621812	0.998000	0.40836	0.977000	0.42913	0.899000	0.52679	2.855000	0.48333	0.712000	0.32039	-0.140000	0.14226	GAC	PARP1	-	pfam_Poly(ADP-ribose)pol_cat_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000143799		0.507	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	158	0.00	0	C	NM_001618		226555189	226555189	-1	no_errors	ENST00000366794	ensembl	human	known	69_37n	missense	171	26.92	63	SNP	0.998	T
PCDH10	57575	genome.wustl.edu	37	4	134073840	134073840	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:134073840G>A	ENST00000264360.5	+	1	3371	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	849					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TACGGACACTGAGCACAACCC	0.562																																						dbGAP											0													88.0	81.0	84.0					4																	134073840		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2545G>A	4.37:g.134073840G>A	ENSP00000264360:p.Glu849Lys		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E849K	ENST00000264360.5	37	c.2545	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849641	0.51270	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52526	0.66	5.13	5.13	0.70059	.	0.000000	0.45867	D	0.000333	T	0.36276	0.0961	L	0.39898	1.24	0.58432	D	0.999998	B;B	0.30406	0.278;0.012	B;B	0.18871	0.023;0.003	T	0.24297	-1.0164	10	0.08179	T	0.78	.	18.2039	0.89848	0.0:0.0:1.0:0.0	.	849;849	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	849	ENSP00000264360:E849K	ENSP00000264360:E849K	E	+	1	0	PCDH10	134293290	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.379000	0.97198	2.387000	0.81309	0.650000	0.86243	GAG	PCDH10	-	NULL	ENSG00000138650		0.562	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	38	0.00	0	G	NM_032961		134073840	134073840	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	missense	11	72.50	29	SNP	1.000	A
PCDHB15	56121	genome.wustl.edu	37	5	140626451	140626451	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:140626451G>A	ENST00000231173.3	+	1	1305	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	435	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACCGAGCAGAGCATAACCG	0.592																																						dbGAP											0													120.0	112.0	115.0					5																	140626451		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1305G>A	5.37:g.140626451G>A			Q8IUX5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q435	ENST00000231173.3	37	c.1305	CCDS4257.1	5																																																																																			PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113248		0.592	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	42	0.00	0	G	NM_018935		140626451	140626451	+1	no_errors	ENST00000231173	ensembl	human	known	69_37n	silent	53	42.39	39	SNP	0.001	A
PCDHGA7	56108	genome.wustl.edu	37	5	140762932	140762932	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:140762932G>A	ENST00000518325.1	+	1	466	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	156	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGTTAAGCGAGGCTGGGGA	0.468																																						dbGAP											0													40.0	47.0	45.0					5																	140762932		2000	4167	6167	-	-	-	SO:0001583	missense	0			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.466G>A	5.37:g.140762932G>A	ENSP00000430024:p.Glu156Lys		B2RN87|Q9Y5D0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E156K	ENST00000518325.1	37	c.466	CCDS54927.1	5	.	.	.	.	.	.	.	.	.	.	.	8.985	0.976364	0.18736	.	.	ENSG00000253537	ENST00000518325	T	0.50548	0.74	4.92	4.92	0.64577	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32615	0.0835	L	0.28274	0.84	0.20821	N	0.999848	B;B	0.23377	0.004;0.084	B;B	0.21546	0.035;0.02	T	0.12993	-1.0526	9	0.17832	T	0.49	.	9.3338	0.38038	0.1604:0.0:0.8396:0.0	.	156;156	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	K	156	ENSP00000430024:E156K	ENSP00000430024:E156K	E	+	1	0	PCDHGA7	140743116	0.000000	0.05858	0.937000	0.37676	0.906000	0.53458	0.162000	0.16501	2.418000	0.82041	0.655000	0.94253	GAG	PCDHGA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253537		0.468	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA7	HGNC	protein_coding	OTTHUMT00000374744.1	10	0.00	0	G	NM_018920		140762932	140762932	+1	no_errors	ENST00000518325	ensembl	human	known	69_37n	missense	19	50.00	19	SNP	0.681	A
PCDH12	51294	genome.wustl.edu	37	5	141337395	141337395	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:141337395G>C	ENST00000231484.3	-	1	1232	c.22C>G	c.(22-24)Ctg>Gtg	p.L8V	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	8					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCCAGCAGAAGTTGCAGA	0.498																																						dbGAP											0													61.0	67.0	65.0					5																	141337395		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.22C>G	5.37:g.141337395G>C	ENSP00000231484:p.Leu8Val		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L8V	ENST00000231484.3	37	c.22	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519638	0.27211	.	.	ENSG00000113555	ENST00000231484;ENST00000510041	T	0.54071	0.59	4.84	3.06	0.35304	.	0.501604	0.18259	N	0.146699	T	0.39253	0.1071	L	0.51422	1.61	0.26400	N	0.976439	B	0.33318	0.408	B	0.25291	0.059	T	0.21690	-1.0238	10	0.35671	T	0.21	.	6.5289	0.22316	0.2916:0.0:0.7084:0.0	.	8	Q9NPG4	PCD12_HUMAN	V	8	ENSP00000231484:L8V	ENSP00000231484:L8V	L	-	1	2	PCDH12	141317579	0.631000	0.27164	0.474000	0.27266	0.957000	0.61999	0.567000	0.23608	0.649000	0.30751	0.462000	0.41574	CTG	PCDH12	-	NULL	ENSG00000113555		0.498	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	34	0.00	0	G	NM_016580		141337395	141337395	-1	no_errors	ENST00000231484	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	0.724	C
PCID2	55795	genome.wustl.edu	37	13	113851427	113851427	+	Intron	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr13:113851427C>G	ENST00000337344.4	-	4	343				PCID2_ENST00000246505.5_Missense_Mutation_p.E111Q|PCID2_ENST00000375457.2_Intron|PCID2_ENST00000375477.1_Intron|PCID2_ENST00000375459.1_Intron|PCID2_ENST00000375479.2_Intron	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TTCCGGGTCTCAAGTCCCAAG	0.473																																						dbGAP											0													178.0	164.0	169.0					13																	113851427		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.266+64G>C	13.37:g.113851427C>G			A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	pfam_PCI_dom,smart_PAM	p.E111Q	ENST00000337344.4	37	c.331	CCDS9532.2	13	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521631	0.27211	.	.	ENSG00000126226	ENST00000246505	.	.	.	4.01	-7.43	0.01383	.	.	.	.	.	T	0.13372	0.0324	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.22941	-1.0202	7	0.16896	T	0.51	-1.6477	1.8784	0.03223	0.137:0.3555:0.1397:0.3678	.	111	Q5JVF3-4	.	Q	111	.	ENSP00000246505:E111Q	E	-	1	0	PCID2	112899428	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.204000	0.03017	-1.680000	0.01450	-0.259000	0.10710	GAG	PCID2	-	NULL	ENSG00000126226		0.473	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	HGNC	protein_coding	OTTHUMT00000045897.1	43	0.00	0	C	NM_018386		113851427	113851427	-1	no_errors	ENST00000246505	ensembl	human	known	69_37n	missense	14	72.55	37	SNP	0.000	G
PCSK4	54760	genome.wustl.edu	37	19	1486858	1486858	+	Silent	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:1486858G>T	ENST00000300954.5	-	8	1123	c.1062C>A	c.(1060-1062)ccC>ccA	p.P354P	PCSK4_ENST00000587784.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		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)		TCACGATCTGGGGGTCGGTGG	0.706																																						dbGAP											0													29.0	31.0	30.0					19																	1486858		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1062C>A	19.37:g.1486858G>T				Missense_Mutation	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept	p.P350T	ENST00000300954.5	37	c.1048	CCDS12069.2	19																																																																																			PCSK4	-	NULL	ENSG00000115257		0.706	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449703.1	18	0.00	0	G	NM_017573		1486858	1486858	-1	no_errors	ENST00000588195	ensembl	human	known	69_37n	missense	10	50.00	10	SNP	0.985	T
PDE4DIP	9659	genome.wustl.edu	37	1	144917926	144917926	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:144917926G>A	ENST00000369354.3	-	11	1549	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R591W|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R520W|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R591W|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R241W|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R617W|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R454W|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R617W|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R454W|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R454W			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	454					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGAGCTCCCGAAATTCCTGA	0.333			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													182.0	199.0	193.0					1																	144917926		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1360C>T	1.37:g.144917926G>A	ENSP00000358360:p.Arg454Trp		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.R454W	ENST00000369354.3	37	c.1360	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708296	0.48412	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.64991	4.63;4.72;4.72;4.72;4.72;3.73;3.73;2.64;2.65;-0.13	5.64	4.72	0.59763	.	.	.	.	.	T	0.64778	0.2629	L	0.57536	1.79	0.26526	N	0.97433	D;D;D;D;D	0.89917	1.0;0.98;0.999;1.0;0.994	D;B;P;D;P	0.70227	0.957;0.343;0.857;0.968;0.487	T	0.60831	-0.7185	9	0.87932	D	0	.	11.5824	0.50900	0.0:0.0:0.6758:0.3242	.	617;454;617;520;454	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	W	520;454;454;617;591;591;454;454;617;617;241	ENSP00000327209:R520W;ENSP00000358360:R454W;ENSP00000358363:R454W;ENSP00000435654:R591W;ENSP00000358366:R591W;ENSP00000358357:R454W;ENSP00000358355:R454W;ENSP00000316434:R617W;ENSP00000433392:R617W;ENSP00000436791:R241W	ENSP00000327209:R520W	R	-	1	2	PDE4DIP	143629283	0.062000	0.20869	0.955000	0.39395	0.312000	0.27988	2.319000	0.43788	1.367000	0.46095	0.462000	0.41574	CGG	PDE4DIP	-	NULL	ENSG00000178104		0.333	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	150	0.00	0	G	NM_022359		144917926	144917926	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	missense	220	12.00	30	SNP	0.167	A
PDIA5	10954	genome.wustl.edu	37	3	122873880	122873880	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:122873880G>A	ENST00000316218.7	+	15	1431	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	446	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CTTCAAAGATGACCGAAAGGT	0.512																																						dbGAP											0													205.0	170.0	182.0					3																	122873880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1336G>A	3.37:g.122873880G>A	ENSP00000323313:p.Asp446Asn		D3DN95|Q9BV43	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.D446N	ENST00000316218.7	37	c.1336	CCDS3020.1	3	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949165	0.92660	.	.	ENSG00000065485	ENST00000316218	T	0.04551	3.6	5.64	5.64	0.86602	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.18087	0.0434	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00070	-1.2134	10	0.45353	T	0.12	.	17.4742	0.87655	0.0:0.0:1.0:0.0	.	446	Q14554	PDIA5_HUMAN	N	446	ENSP00000323313:D446N	ENSP00000323313:D446N	D	+	1	0	PDIA5	124356570	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.293000	0.89932	2.637000	0.89404	0.563000	0.77884	GAC	PDIA5	-	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold	ENSG00000065485		0.512	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	59	0.00	0	G	NM_006810		122873880	122873880	+1	no_errors	ENST00000316218	ensembl	human	known	69_37n	missense	33	41.07	23	SNP	1.000	A
PDPR	55066	genome.wustl.edu	37	16	70166122	70166122	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:70166122G>C	ENST00000288050.4	+	9	1873	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	PDPR_ENST00000568530.1_Missense_Mutation_p.E306Q|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.E206Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	306					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGGGGGCTTTGAGAAGAACCC	0.468																																						dbGAP											0													75.0	75.0	75.0					16																	70166122		1868	4104	5972	-	-	-	SO:0001583	missense	0				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.916G>C	16.37:g.70166122G>C	ENSP00000288050:p.Glu306Gln		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.E306Q	ENST00000288050.4	37	c.916	CCDS45520.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.175709	0.94807	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	T;T	0.39592	1.07;1.07	5.07	5.07	0.68467	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.71417	0.3337	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.79784	0.993;0.967	T	0.78671	-0.2113	10	0.72032	D	0.01	.	17.4186	0.87508	0.0:0.0:1.0:0.0	.	34;306	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	Q	306;206;34	ENSP00000288050:E306Q;ENSP00000381190:E206Q	ENSP00000205055:E34Q	E	+	1	0	PDPR	68723623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.810000	0.99221	2.353000	0.79882	0.585000	0.79938	GAG	PDPR	-	pfam_FAD-dep_OxRdtase	ENSG00000090857		0.468	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	41	0.00	0	G	NM_017990		70166122	70166122	+1	no_errors	ENST00000288050	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	1.000	C
PEG3	5178	genome.wustl.edu	37	19	57335705	57335705	+	Nonsense_Mutation	SNP	G	G	A	rs141346770	byFrequency	TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:57335705G>A	ENST00000326441.9	-	4	682	c.319C>T	c.(319-321)Cga>Tga	p.R107*	PEG3_ENST00000598410.1_5'UTR|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000601070.1_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR|PEG3_ENST00000593695.1_5'UTR|PEG3_ENST00000423103.2_Nonsense_Mutation_p.R107*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	107	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTTTGCTCGCACCCAAGGC	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		17906	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													96.0	91.0	93.0					19																	57335705		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.319C>T	19.37:g.57335705G>A	ENSP00000326581:p.Arg107*		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R107*	ENST00000326441.9	37	c.319	CCDS12948.1	19	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	37	6.491480	0.97612	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	.	.	.	5.04	2.9	0.33743	.	1.276940	0.05802	N	0.612343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.1174	7.7334	0.28799	0.2029:0.0:0.7971:0.0	.	.	.	.	X	107	.	ENSP00000292074:R107X	R	-	1	2	ZIM2	62027517	0.205000	0.23458	0.672000	0.29872	0.954000	0.61252	0.558000	0.23469	0.778000	0.33520	0.650000	0.86243	CGA	PEG3	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000198300		0.537	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	57	0.00	0	G			57335705	57335705	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	nonsense	28	47.17	25	SNP	0.792	A
PGAM1	5223	genome.wustl.edu	37	10	99190257	99190257	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:99190257C>G	ENST00000334828.5	+	2	409	c.261C>G	c.(259-261)ctC>ctG	p.L87L	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	87					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)	p.L87L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CTTGGCGCCTCAATGAGCGGC	0.552																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											52.0	56.0	55.0					10																	99190257		2202	4276	6478	-	-	-	SO:0001819	synonymous_variant	0			BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.261C>G	10.37:g.99190257C>G			Q9BWC0	Silent	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.L87	ENST00000334828.5	37	c.261	CCDS7458.1	10																																																																																			PGAM1	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	ENSG00000171314		0.552	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM1	HGNC	protein_coding	OTTHUMT00000049652.1	75	0.00	0	C	NM_002629		99190257	99190257	+1	no_errors	ENST00000334828	ensembl	human	known	69_37n	silent	27	50.00	27	SNP	1.000	G
PGBD2	267002	genome.wustl.edu	37	1	249212537	249212537	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:249212537G>A	ENST00000329291.5	+	3	1901	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y	PGBD2_ENST00000355360.4_Missense_Mutation_p.C334Y|PGBD2_ENST00000539153.1_Missense_Mutation_p.C582Y	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	585										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CATGCCAAATGCTTCAGGGAG	0.488																																						dbGAP											0													122.0	125.0	124.0					1																	249212537		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1754G>A	1.37:g.249212537G>A	ENSP00000331643:p.Cys585Tyr		B3KVR8|Q6MZF8	Missense_Mutation	SNP	NULL	p.C585Y	ENST00000329291.5	37	c.1754	CCDS31128.1	1	.	.	.	.	.	.	.	.	.	.	.	10.36	1.327689	0.24080	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	D;D;D	0.94330	-3.4;-3.4;-3.4	3.22	3.22	0.36961	.	0.000000	0.53938	D	0.000050	D	0.94716	0.8295	L	0.55990	1.75	0.34299	D	0.684078	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.99	D	0.95843	0.8868	10	0.87932	D	0	.	10.1894	0.43017	0.0:0.0:1.0:0.0	.	582;585	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	Y	334;585;582	ENSP00000355424:C334Y;ENSP00000331643:C585Y;ENSP00000439950:C582Y	ENSP00000331643:C585Y	C	+	2	0	PGBD2	247179160	1.000000	0.71417	0.799000	0.32177	0.009000	0.06853	3.764000	0.55264	2.086000	0.62901	0.591000	0.81541	TGC	PGBD2	-	NULL	ENSG00000185220		0.488	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGBD2	HGNC	protein_coding	OTTHUMT00000097318.1	117	0.00	0	G			249212537	249212537	+1	no_errors	ENST00000329291	ensembl	human	known	69_37n	missense	74	28.16	29	SNP	0.932	A
PGBD4	161779	genome.wustl.edu	37	15	34396199	34396199	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:34396199G>C	ENST00000397766.2	+	1	1926	c.1467G>C	c.(1465-1467)ttG>ttC	p.L489F	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	489										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GACTGGCATTGATTGAAAGAA	0.463																																						dbGAP											0													66.0	58.0	61.0					15																	34396199		2201	4298	6499	-	-	-	SO:0001583	missense	0			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1467G>C	15.37:g.34396199G>C	ENSP00000380872:p.Leu489Phe		A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	NULL	p.L489F	ENST00000397766.2	37	c.1467	CCDS10033.1	15	.	.	.	.	.	.	.	.	.	.	g	14.76	2.632340	0.46944	.	.	ENSG00000182405	ENST00000397766	T	0.26373	1.74	0.837	-0.602	0.11634	.	1.447240	0.05940	U	0.636870	T	0.27798	0.0684	N	0.24115	0.695	0.09310	N	1	P	0.50443	0.935	P	0.56960	0.81	T	0.24835	-1.0149	10	0.45353	T	0.12	.	5.3687	0.16127	0.0:0.0:0.6715:0.3285	.	489	Q96DM1	PGBD4_HUMAN	F	489	ENSP00000380872:L489F	ENSP00000380872:L489F	L	+	3	2	PGBD4	32183491	0.186000	0.23225	0.006000	0.13384	0.826000	0.46750	-0.043000	0.12043	-0.186000	0.10533	0.306000	0.20318	TTG	PGBD4	-	NULL	ENSG00000182405		0.463	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PGBD4	HGNC	protein_coding	OTTHUMT00000251522.1	41	0.00	0	G			34396199	34396199	+1	no_errors	ENST00000397766	ensembl	human	known	69_37n	missense	23	50.00	23	SNP	0.053	C
PHF12	57649	genome.wustl.edu	37	17	27234610	27234610	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:27234610C>T	ENST00000332830.4	-	13	3349	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	PHF12_ENST00000582655.1_5'Flank|PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCCCTCACCTCATCGTAGAAT	0.557																																						dbGAP											0													96.0	76.0	83.0					17																	27234610		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2539G>A	17.37:g.27234610C>T	ENSP00000329933:p.Glu847Lys			Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.E847K	ENST00000332830.4	37	c.2539	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.391492	0.95988	.	.	ENSG00000109118	ENST00000332830	T	0.42900	0.96	4.34	4.34	0.51931	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.64404	1.975	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.65721	-0.6099	10	0.87932	D	0	-20.9501	15.5957	0.76578	0.0:1.0:0.0:0.0	.	829;847	B4DFE2;Q96QT6	.;PHF12_HUMAN	K	847	ENSP00000329933:E847K	ENSP00000329933:E847K	E	-	1	0	PHF12	24258736	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.130000	0.77235	2.221000	0.72209	0.467000	0.42956	GAG	PHF12	-	superfamily_SMAD_FHA_domain,pfscan_FHA_dom	ENSG00000109118		0.557	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	25	0.00	0	C	NM_020889		27234610	27234610	-1	no_errors	ENST00000332830	ensembl	human	known	69_37n	missense	32	36.00	18	SNP	1.000	T
JADE3	9767	genome.wustl.edu	37	X	46884154	46884154	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:46884154C>G	ENST00000218343.4	+	5	611	c.313C>G	c.(313-315)Ctg>Gtg	p.L105V	PHF16_ENST00000397189.1_Missense_Mutation_p.L105V	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AAAGGACGTTCTGTTTATCCG	0.448																																						dbGAP											0													93.0	77.0	83.0					X																	46884154		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000218343.4:c.313C>G	X.37:g.46884154C>G	ENSP00000218343:p.Leu105Val			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L105V	ENST00000218343.4	37	c.313	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	C	9.744	1.165700	0.21538	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343;ENST00000455411	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.79	2.11	0.27256	Enhancer of polycomb-like, N-terminal (1);	0.144326	0.46758	D	0.000279	T	0.37625	0.1010	L	0.54323	1.7	0.26202	N	0.979439	B	0.29188	0.236	B	0.38296	0.27	T	0.32903	-0.9889	10	0.13853	T	0.58	.	8.629	0.33908	0.0:0.6286:0.0:0.3714	.	105	Q92613	JADE3_HUMAN	V	105	ENSP00000391009:L105V;ENSP00000380373:L105V;ENSP00000218343:L105V;ENSP00000400584:L105V	ENSP00000218343:L105V	L	+	1	2	PHF16	46769098	0.957000	0.32711	0.000000	0.03702	0.380000	0.30137	1.502000	0.35704	-0.002000	0.14469	0.544000	0.68410	CTG	PHF16	-	pfam_Enhancer_polycomb-like_N	ENSG00000102221		0.448	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	68	0.00	0	C			46884154	46884154	+1	no_errors	ENST00000218343	ensembl	human	known	69_37n	missense	50	27.54	19	SNP	0.250	G
PHF20L1	51105	genome.wustl.edu	37	8	133836315	133836315	+	Intron	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:133836315G>C	ENST00000395386.2	+	13	1935				PHF20L1_ENST00000395390.2_Intron|PHF20L1_ENST00000220847.7_Intron|CTC-137K3.1_ENST00000602328.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGTATGAACAGAAAGTAATCT	0.363																																						dbGAP											0													72.0	71.0	71.0					8																	133836315		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1636+10G>C	8.37:g.133836315G>C			A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant	p.R553T	ENST00000395386.2	37	c.1658	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	G	19.05	3.750944	0.69533	.	.	ENSG00000129292	ENST00000395383	T	0.48522	0.81	5.87	5.0	0.66597	.	.	.	.	.	T	0.45816	0.1361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29731	-1.0002	6	0.19590	T	0.45	.	10.8312	0.46661	0.0861:0.0:0.9139:0.0	.	.	.	.	T	553	ENSP00000378781:R553T	ENSP00000378781:R553T	R	+	2	0	PHF20L1	133905497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.102000	0.50291	1.486000	0.48398	0.650000	0.86243	AGA	PHF20L1	-	NULL	ENSG00000129292		0.363	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	40	0.00	0	G	NM_016018		133836315	133836315	+1	no_errors	ENST00000395383	ensembl	human	novel	69_37n	missense	51	32.00	24	SNP	1.000	C
PI4KA	5297	genome.wustl.edu	37	22	21161665	21161665	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:21161665G>C	ENST00000572273.1	-	10	1209	c.979C>G	c.(979-981)Ctg>Gtg	p.L327V	PI4KA_ENST00000255882.6_Missense_Mutation_p.L385V			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	327					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATGTAGTACAGAGTGTCACGC	0.532																																					GBM(136;1332 1831 3115 23601 50806)	dbGAP											0													182.0	126.0	145.0					22																	21161665		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.979C>G	22.37:g.21161665G>C	ENSP00000458238:p.Leu327Val		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L385V	ENST00000572273.1	37	c.1153		22	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218327	0.58560	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.24	3.11	0.35812	.	0.146689	0.46442	D	0.000288	T	0.74152	0.3679	M	0.73962	2.25	0.80722	D	1	D;D	0.60575	0.965;0.988	D;P	0.64776	0.929;0.604	T	0.75238	-0.3388	9	0.45353	T	0.12	-6.2998	11.3665	0.49675	0.2048:0.0:0.7952:0.0	.	385;327	D3DX33;P42356	.;PI4KA_HUMAN	V	327	.	ENSP00000255882:L327V	L	-	1	2	PI4KA	19491665	0.993000	0.37304	0.998000	0.56505	0.945000	0.59286	2.139000	0.42149	1.441000	0.47550	0.655000	0.94253	CTG	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.532	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		107	0.00	0	G	NM_058004		21161665	21161665	-1	no_errors	ENST00000255882	ensembl	human	known	69_37n	missense	49	41.67	35	SNP	0.944	C
PIWIL1	9271	genome.wustl.edu	37	12	130827556	130827556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:130827556C>T	ENST00000245255.3	+	3	372	c.100C>T	c.(100-102)Cag>Tag	p.Q34*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	34					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGGTTATATTCAGCCTAGGCC	0.478																																						dbGAP											0													61.0	60.0	61.0					12																	130827556		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.100C>T	12.37:g.130827556C>T	ENSP00000245255:p.Gln34*		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q34*	ENST00000245255.3	37	c.100	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311551	0.81358	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	.	.	.	5.03	4.08	0.47627	.	1.046440	0.07443	N	0.897753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-2.5701	14.0891	0.64977	0.1503:0.8497:0.0:0.0	.	.	.	.	X	34	.	ENSP00000245255:Q34X	Q	+	1	0	PIWIL1	129393509	0.007000	0.16637	0.004000	0.12327	0.235000	0.25334	2.288000	0.43514	2.480000	0.83734	0.591000	0.81541	CAG	PIWIL1	-	pfam_GAGE	ENSG00000125207		0.478	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	25	0.00	0	C			130827556	130827556	+1	no_errors	ENST00000245255	ensembl	human	known	69_37n	nonsense	31	34.04	16	SNP	0.008	T
PKD1L1	168507	genome.wustl.edu	37	7	47979837	47979837	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:47979837C>T	ENST00000289672.2	-	3	288	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	80					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCCGGTCTTCTGCCTTTCCA	0.443																																						dbGAP											0													156.0	134.0	142.0					7																	47979837		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.238G>A	7.37:g.47979837C>T	ENSP00000289672:p.Glu80Lys		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.E80K	ENST00000289672.2	37	c.238	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	6.089	0.384643	0.11524	.	.	ENSG00000158683	ENST00000289672	T	0.23348	1.91	2.69	0.775	0.18527	.	.	.	.	.	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	B	0.19331	0.035	B	0.12156	0.007	T	0.24584	-1.0156	9	0.59425	D	0.04	0.0479	4.0598	0.09832	0.0:0.6109:0.244:0.1451	.	80	Q8TDX9	PK1L1_HUMAN	K	80	ENSP00000289672:E80K	ENSP00000289672:E80K	E	-	1	0	PKD1L1	47946362	0.007000	0.16637	0.000000	0.03702	0.006000	0.05464	0.763000	0.26517	0.195000	0.20347	0.650000	0.86243	GAA	PKD1L1	-	NULL	ENSG00000158683		0.443	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	99	0.00	0	C	NM_138295		47979837	47979837	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	missense	56	40.43	38	SNP	0.000	T
PKD1L2	114780	genome.wustl.edu	37	16	81164113	81164113	+	RNA	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:81164113G>C	ENST00000534142.1	-	0	382				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGCCCACTTGAAGAACTCTC	0.602																																						dbGAP											0													45.0	48.0	47.0					16																	81164113		1944	4142	6086	-	-	-			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81164113G>C			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	NULL	p.F1998L	ENST00000534142.1	37	c.5994		16																																																																																			PKD1L2	-	NULL	ENSG00000166473		0.602	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387969.1	24	0.00	0	G			81164113	81164113	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525539	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	0.006	C
PKNOX1	5316	genome.wustl.edu	37	21	44450137	44450137	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr21:44450137G>C	ENST00000291547.5	+	11	1448	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	PKNOX1_ENST00000432907.2_Missense_Mutation_p.E296Q	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	413					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GGACAGCACAGAGGAGGATGC	0.647																																						dbGAP											0													68.0	62.0	64.0					21																	44450137		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.1237G>C	21.37:g.44450137G>C	ENSP00000291547:p.Glu413Gln		O00528|Q8IWT7	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E413Q	ENST00000291547.5	37	c.1237	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354667	0.41700	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.87729	-2.02;-2.29	5.43	5.43	0.79202	.	0.162693	0.53938	D	0.000043	T	0.76962	0.4061	N	0.04959	-0.14	0.52099	D	0.999944	B	0.20550	0.046	B	0.19666	0.026	T	0.71119	-0.4685	10	0.33141	T	0.24	-2.6034	19.2668	0.93990	0.0:0.0:1.0:0.0	.	413	P55347	PKNX1_HUMAN	Q	413;296	ENSP00000291547:E413Q;ENSP00000402243:E296Q	ENSP00000291547:E413Q	E	+	1	0	PKNOX1	43323206	1.000000	0.71417	0.852000	0.33557	0.525000	0.34531	7.112000	0.77086	2.547000	0.85894	0.591000	0.81541	GAG	PKNOX1	-	NULL	ENSG00000160199		0.647	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3	24	0.00	0	G			44450137	44450137	+1	no_errors	ENST00000291547	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.996	C
PLA2G4D	283748	genome.wustl.edu	37	15	42371908	42371908	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:42371908C>T	ENST00000290472.3	-	13	1238	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	382	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ATAGGTCCCTCCAGGTCCCTC	0.657																																						dbGAP											0													54.0	55.0	55.0					15																	42371908		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1144G>A	15.37:g.42371908C>T	ENSP00000290472:p.Glu382Lys		Q8N176	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E382K	ENST00000290472.3	37	c.1144	CCDS32203.1	15	.	.	.	.	.	.	.	.	.	.	C	7.633	0.679334	0.14907	.	.	ENSG00000159337	ENST00000290472	T	0.05025	3.51	4.84	-1.04	0.10068	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.777035	0.11791	N	0.529168	T	0.03651	0.0104	N	0.17872	0.535	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.46331	-0.9199	10	0.21014	T	0.42	-3.7761	6.2239	0.20698	0.0:0.4634:0.1208:0.4157	.	382	Q86XP0	PA24D_HUMAN	K	382	ENSP00000290472:E382K	ENSP00000290472:E382K	E	-	1	0	PLA2G4D	40159200	0.000000	0.05858	0.033000	0.17914	0.183000	0.23260	-0.878000	0.04192	-0.194000	0.10399	0.561000	0.74099	GAG	PLA2G4D	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000159337		0.657	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1	30	0.00	0	C	NM_178034		42371908	42371908	-1	no_errors	ENST00000290472	ensembl	human	known	69_37n	missense	17	41.38	12	SNP	0.003	T
PLCG2	5336	genome.wustl.edu	37	16	81953119	81953119	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:81953119C>G	ENST00000359376.3	+	20	2299	c.2085C>G	c.(2083-2085)atC>atG	p.I695M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	695	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATTGTCGCATCAACCGGGACG	0.522																																						dbGAP											0													76.0	81.0	79.0					16																	81953119		1973	4137	6110	-	-	-	SO:0001583	missense	0				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2085C>G	16.37:g.81953119C>G	ENSP00000352336:p.Ile695Met		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.I695M	ENST00000359376.3	37	c.2085	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453756	0.43531	.	.	ENSG00000197943	ENST00000359376	D	0.96459	-4.02	4.99	2.8	0.32819	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (5);	0.096879	0.64402	D	0.000002	D	0.97845	0.9292	M	0.91920	3.255	0.51767	D	0.999934	D;D	0.89917	1.0;0.978	D;D	0.85130	0.997;0.961	D	0.96966	0.9705	10	0.87932	D	0	.	5.4588	0.16606	0.1547:0.5815:0.0:0.2638	.	562;695	B4E3H3;P16885	.;PLCG2_HUMAN	M	695	ENSP00000352336:I695M	ENSP00000352336:I695M	I	+	3	3	PLCG2	80510620	0.969000	0.33509	0.984000	0.44739	0.482000	0.33219	0.124000	0.15728	1.100000	0.41517	0.655000	0.94253	ATC	PLCG2	-	pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,prints_SH2,pfscan_SH2	ENSG00000197943		0.522	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	24	0.00	0	C			81953119	81953119	+1	no_errors	ENST00000359376	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	0.996	G
PLG	5340	genome.wustl.edu	37	6	161139852	161139852	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:161139852G>A	ENST00000308192.9	+	9	1141	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	360					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTATCCACGGAACAATTGGC	0.502																																						dbGAP											0													77.0	73.0	75.0					6																	161139852		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1078G>A	6.37:g.161139852G>A	ENSP00000308938:p.Glu360Lys		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.E360K	ENST00000308192.9	37	c.1078	CCDS5279.1	6	.	.	.	.	.	.	.	.	.	.	G	8.242	0.807076	0.16467	.	.	ENSG00000122194	ENST00000308192	D	0.87334	-2.24	5.4	4.53	0.55603	Kringle (1);Kringle-like fold (1);	0.755233	0.10887	U	0.623178	T	0.73560	0.3602	L	0.39147	1.195	0.09310	N	1	P	0.38788	0.647	B	0.40982	0.345	T	0.63620	-0.6596	10	0.18710	T	0.47	.	13.5292	0.61613	0.0:0.1565:0.8435:0.0	.	360	P00747	PLMN_HUMAN	K	360	ENSP00000308938:E360K	ENSP00000308938:E360K	E	+	1	0	PLG	161059842	0.832000	0.29368	0.031000	0.17742	0.007000	0.05969	2.543000	0.45752	1.494000	0.48533	0.563000	0.77884	GAA	PLG	-	pirsf_Pept_S1A_plasmin,superfamily_Kringle-like	ENSG00000122194		0.502	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	44	0.00	0	G	NM_000301		161139852	161139852	+1	no_errors	ENST00000308192	ensembl	human	known	69_37n	missense	31	36.73	18	SNP	0.009	A
PLTP	5360	genome.wustl.edu	37	20	44531210	44531210	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:44531210C>G	ENST00000477313.1	-	10	1570	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	PLTP_ENST00000354050.4_Missense_Mutation_p.E274Q|PLTP_ENST00000372420.1_Missense_Mutation_p.E238Q|PLTP_ENST00000372431.3_Missense_Mutation_p.E326Q|PLTP_ENST00000542937.1_Missense_Mutation_p.E346Q|PLTP_ENST00000420868.2_Missense_Mutation_p.E231Q			P55058	PLTP_HUMAN	phospholipid transfer protein	326					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				ACCCGCAGCTCCAGCTTCAAT	0.632																																						dbGAP											0													29.0	27.0	28.0					20																	44531210		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.976G>C	20.37:g.44531210C>G	ENSP00000417138:p.Glu326Gln		A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.E346Q	ENST00000477313.1	37	c.1036	CCDS13386.1	20	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591603	0.28357	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93	5.28	4.33	0.51752	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.153751	0.56097	D	0.000025	T	0.07773	0.0195	L	0.33485	1.01	0.35365	D	0.788585	B;B;B;B;B;B;B	0.31256	0.167;0.167;0.123;0.199;0.27;0.199;0.316	B;B;B;B;B;B;B	0.29942	0.047;0.047;0.083;0.076;0.05;0.076;0.109	T	0.29397	-1.0013	10	0.14252	T	0.57	-31.2663	9.6741	0.40030	0.0:0.7801:0.1422:0.0778	.	231;231;238;326;274;326;346	E7EV16;B4DRB4;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;.;PLTP_HUMAN;.	Q	238;326;274;326;346;231	ENSP00000361497:E238Q;ENSP00000361508:E326Q;ENSP00000335290:E274Q;ENSP00000417138:E326Q;ENSP00000440296:E346Q;ENSP00000411671:E231Q	ENSP00000335290:E274Q	E	-	1	0	PLTP	43964617	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.335000	0.43929	1.438000	0.47492	0.655000	0.94253	GAG	PLTP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000100979		0.632	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	39	0.00	0	C	NM_006227		44531210	44531210	-1	no_errors	ENST00000542937	ensembl	human	known	69_37n	missense	3	60.00	6	SNP	1.000	G
PLTP	5360	genome.wustl.edu	37	20	44533472	44533472	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:44533472C>T	ENST00000477313.1	-	9	1503	c.909G>A	c.(907-909)ctG>ctA	p.L303L	PLTP_ENST00000354050.4_Silent_p.L251L|PLTP_ENST00000372420.1_Silent_p.L215L|PLTP_ENST00000372431.3_Silent_p.L303L|PLTP_ENST00000542937.1_Silent_p.L323L|PLTP_ENST00000420868.2_Silent_p.L208L			P55058	PLTP_HUMAN	phospholipid transfer protein	303					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGGTGGCCCTCAGCAGCATGT	0.612																																						dbGAP											0													110.0	103.0	106.0					20																	44533472		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.909G>A	20.37:g.44533472C>T			A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L323	ENST00000477313.1	37	c.969	CCDS13386.1	20																																																																																			PLTP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000100979		0.612	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	105	0.00	0	C	NM_006227		44533472	44533472	-1	no_errors	ENST00000542937	ensembl	human	known	69_37n	silent	4	84.85	28	SNP	1.000	T
PLTP	5360	genome.wustl.edu	37	20	44533593	44533593	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:44533593C>T	ENST00000477313.1	-	8	1464	c.870G>A	c.(868-870)ctG>ctA	p.L290L	PLTP_ENST00000354050.4_Silent_p.L238L|PLTP_ENST00000372420.1_Silent_p.L202L|PLTP_ENST00000372431.3_Silent_p.L290L|PLTP_ENST00000542937.1_Silent_p.L310L|PLTP_ENST00000420868.2_Silent_p.L195L			P55058	PLTP_HUMAN	phospholipid transfer protein	290					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TGTCCCCCACCAGCAACAGCT	0.582																																						dbGAP											0													81.0	78.0	79.0					20																	44533593		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.870G>A	20.37:g.44533593C>T			A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L310	ENST00000477313.1	37	c.930	CCDS13386.1	20																																																																																			PLTP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000100979		0.582	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	91	0.00	0	C	NM_006227		44533593	44533593	-1	no_errors	ENST00000542937	ensembl	human	known	69_37n	silent	6	86.05	37	SNP	0.977	T
PLVAP	83483	genome.wustl.edu	37	19	17476094	17476094	+	Splice_Site	SNP	C	C	G	rs111831522		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:17476094C>G	ENST00000252590.4	-	3	1241		c.e3+1		CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein						MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCAAGCCCACCTTGGTCTTG	0.587																																						dbGAP											0													66.0	60.0	62.0					19																	17476094		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1179+1G>C	19.37:g.17476094C>G			Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Splice_Site	SNP	-	e3+1	ENST00000252590.4	37	c.1179+1	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747967	0.30955	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4887	0.67634	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLVAP	17337094	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	3.588000	0.53964	2.486000	0.83907	0.561000	0.74099	.	PLVAP	-	-	ENSG00000130300		0.587	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	20	0.00	0	C	NM_031310	Intron	17476094	17476094	-1	no_errors	ENST00000252590	ensembl	human	known	69_37n	splice_site	31	43.64	24	SNP	1.000	G
PLXNA3	55558	genome.wustl.edu	37	X	153689482	153689482	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:153689482C>G	ENST00000369682.3	+	3	813	c.638C>G	c.(637-639)tCa>tGa	p.S213*		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	213	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGATCCCCTCAGACACGCTG	0.587																																						dbGAP											0													190.0	131.0	151.0					X																	153689482		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.638C>G	X.37:g.153689482C>G	ENSP00000358696:p.Ser213*		Q5HY36	Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.S213*	ENST00000369682.3	37	c.638	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.825156	0.96989	.	.	ENSG00000130827	ENST00000369682	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.0886	0.81076	0.0:1.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000358696:S213X	S	+	2	0	PLXNA3	153342676	1.000000	0.71417	0.853000	0.33588	0.615000	0.37417	7.651000	0.83577	2.315000	0.78130	0.529000	0.55759	TCA	PLXNA3	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000130827		0.587	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	44	0.00	0	C	NM_017514		153689482	153689482	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	nonsense	56	34.48	30	SNP	1.000	G
PLXNB1	5364	genome.wustl.edu	37	3	48453384	48453384	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:48453384C>T	ENST00000358536.4	-	28	5404	c.5135G>A	c.(5134-5136)cGa>cAa	p.R1712Q	PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1529Q|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1712Q|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R323Q|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1529Q	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1712					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTAATCCCTCGAAAGAGCAT	0.572																																						dbGAP											0													212.0	188.0	196.0					3																	48453384		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5135G>A	3.37:g.48453384C>T	ENSP00000351338:p.Arg1712Gln		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1712Q	ENST00000358536.4	37	c.5135	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.378783	0.95945	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	4.3	4.3	0.51218	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.057108	0.64402	D	0.000002	T	0.34250	0.0891	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.04268	-1.0964	10	0.27785	T	0.31	.	15.9456	0.79789	0.0:1.0:0.0:0.0	.	1712;1529	O43157;O43157-2	PLXB1_HUMAN;.	Q	1712;1529;1712;323;1529	ENSP00000296440:R1712Q;ENSP00000351242:R1529Q;ENSP00000351338:R1712Q;ENSP00000389320:R323Q;ENSP00000414199:R1529Q	ENSP00000296440:R1712Q	R	-	2	0	PLXNB1	48428388	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.763000	0.62257	2.217000	0.71921	0.561000	0.74099	CGA	PLXNB1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000164050		0.572	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	38	0.00	0	C	NM_002673		48453384	48453384	-1	no_errors	ENST00000296440	ensembl	human	known	69_37n	missense	45	41.56	32	SNP	1.000	T
PML	5371	genome.wustl.edu	37	15	74317242	74317242	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:74317242C>G	ENST00000268058.3	+	4	1324	c.1228C>G	c.(1228-1230)Ccc>Gcc	p.P410A	PML_ENST00000569965.1_Missense_Mutation_p.P410A|PML_ENST00000569477.1_Missense_Mutation_p.P410A|PML_ENST00000395132.2_Missense_Mutation_p.P410A|PML_ENST00000435786.2_Missense_Mutation_p.P410A|PML_ENST00000564428.1_Missense_Mutation_p.P410A|PML_ENST00000436891.3_Missense_Mutation_p.P410A|PML_ENST00000569161.1_3'UTR|PML_ENST00000395135.3_Missense_Mutation_p.P410A|PML_ENST00000354026.6_Missense_Mutation_p.P410A|PML_ENST00000268059.6_Missense_Mutation_p.P410A|PML_ENST00000563500.1_Missense_Mutation_p.P410A|PML_ENST00000359928.4_Missense_Mutation_p.P410A|PML_ENST00000567543.1_Missense_Mutation_p.P410A|PML_ENST00000565898.1_Missense_Mutation_p.P410A	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	410					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGCCAGCACTCCCAGGGACCC	0.572			T	"""RARA, PAX5"""	"""APL, ALL"""																																	dbGAP		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													106.0	93.0	97.0					15																	74317242		2198	4297	6495	-	-	-	SO:0001583	missense	0			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1228C>G	15.37:g.74317242C>G	ENSP00000268058:p.Pro410Ala		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.P410A	ENST00000268058.3	37	c.1228	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054275	0.75960	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.53423	0.62	3.73	3.73	0.42828	.	0.543958	0.15882	N	0.239965	T	0.62865	0.2463	M	0.63843	1.955	0.20403	N	0.999903	D;P;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.573;0.999;1.0;0.998;0.999;0.961;1.0;0.989;1.0;0.987;0.996;0.999	D;B;D;D;D;D;P;D;D;D;P;D;D	0.87578	0.984;0.336;0.95;0.998;0.911;0.981;0.554;0.998;0.922;0.995;0.889;0.963;0.992	T	0.50039	-0.8874	10	0.40728	T	0.16	-16.4168	11.3518	0.49592	0.0:1.0:0.0:0.0	.	410;360;410;410;410;410;410;410;410;410;410;410;413	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	A	410	ENSP00000268058:P410A	ENSP00000268058:P410A	P	+	1	0	PML	72104295	0.001000	0.12720	0.419000	0.26584	0.735000	0.41995	0.454000	0.21827	2.393000	0.81446	0.555000	0.69702	CCC	PML	-	pfam_DUF3583	ENSG00000140464		0.572	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	114	0.00	0	C	NM_002675		74317242	74317242	+1	no_errors	ENST00000268058	ensembl	human	known	69_37n	missense	66	25.84	23	SNP	0.459	G
PMS2	5395	genome.wustl.edu	37	7	6018233	6018233	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:6018233C>G	ENST00000265849.7	-	13	2374	c.2269G>C	c.(2269-2271)Gaa>Caa	p.E757Q	PMS2_ENST00000406569.3_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.E356Q|PMS2_ENST00000441476.2_Missense_Mutation_p.E651Q	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	757					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTACCATTTTCATCGATAACA	0.428			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													82.0	66.0	72.0					7																	6018233		2194	4283	6477	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2269G>C	7.37:g.6018233C>G	ENSP00000265849:p.Glu757Gln		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.E757Q	ENST00000265849.7	37	c.2269	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213947	0.58452	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	T;T;T	0.76316	-1.01;-1.01;-1.01	5.73	3.94	0.45596	MutL, C-terminal, dimerisation (2);	0.176309	0.48286	D	0.000196	D	0.86602	0.5972	M	0.79926	2.475	0.53005	D	0.999965	P;P;D	0.89917	0.873;0.766;1.0	P;P;D	0.87578	0.466;0.754;0.998	D	0.84817	0.0794	10	0.34782	T	0.22	-12.1639	11.3974	0.49849	0.0:0.8548:0.0:0.1452	.	356;757;651	P54278-2;P54278;C9J167	.;PMS2_HUMAN;.	Q	757;710;356;651	ENSP00000265849:E757Q;ENSP00000371758:E356Q;ENSP00000392843:E651Q	ENSP00000265849:E757Q	E	-	1	0	PMS2	5984759	1.000000	0.71417	0.028000	0.17463	0.622000	0.37654	5.440000	0.66563	0.782000	0.33613	0.555000	0.69702	GAA	PMS2	-	pfam_MutL_C,smart_MutL_C	ENSG00000122512		0.428	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	73	0.00	0	C	NM_000535		6018233	6018233	-1	no_errors	ENST00000265849	ensembl	human	known	69_37n	missense	217	17.49	46	SNP	1.000	G
PNMA3	29944	genome.wustl.edu	37	X	152225791	152225791	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:152225791G>C	ENST00000370264.4	+	1	405	c.379G>C	c.(379-381)Gac>Cac	p.D127H	PNMA3_ENST00000370265.4_Missense_Mutation_p.D127H|PNMA3_ENST00000447306.1_Missense_Mutation_p.D127H			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	127					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cctcgggtcggacaccaattg	0.532																																						dbGAP											0													41.0	42.0	42.0					X																	152225791		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.379G>C	X.37:g.152225791G>C	ENSP00000359286:p.Asp127His		D3DWT7|Q9H0A4	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.D127H	ENST00000370264.4	37	c.379	CCDS35435.2	X	.	.	.	.	.	.	.	.	.	.	g	3.818	-0.038400	0.07497	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.09817	2.94;2.94;2.94	1.95	0.988	0.19796	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.39251	-0.9623	9	0.42905	T	0.14	.	5.494	0.16791	0.0:0.3727:0.6273:0.0	.	127	Q9UL41	PNMA3_HUMAN	H	127	ENSP00000359288:D127H;ENSP00000407642:D127H;ENSP00000359286:D127H	ENSP00000359286:D127H	D	+	1	0	PNMA3	151976447	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.287000	0.08388	0.246000	0.21394	0.417000	0.27973	GAC	PNMA3	-	NULL	ENSG00000183837		0.532	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA3	HGNC	protein_coding	OTTHUMT00000060946.2	9	0.00	0	G	NM_013364		152225791	152225791	+1	no_errors	ENST00000370264	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	0.000	C
POGZ	23126	genome.wustl.edu	37	1	151378286	151378286	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:151378286G>C	ENST00000271715.2	-	19	3539	c.3225C>G	c.(3223-3225)ttC>ttG	p.F1075L	POGZ_ENST00000531094.1_Missense_Mutation_p.F1013L|POGZ_ENST00000491586.1_Missense_Mutation_p.F1031L|POGZ_ENST00000392723.1_Missense_Mutation_p.F1022L|POGZ_ENST00000409503.1_Missense_Mutation_p.F1066L|POGZ_ENST00000368863.2_Missense_Mutation_p.F980L|POGZ_ENST00000361398.3_Missense_Mutation_p.F1022L|POGZ_ENST00000540984.1_Missense_Mutation_p.F437L	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1075	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGCAGCATGAAACGCACAG	0.522																																						dbGAP											0													82.0	74.0	77.0					1																	151378286		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3225C>G	1.37:g.151378286G>C	ENSP00000271715:p.Phe1075Leu		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.F1075L	ENST00000271715.2	37	c.3225	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923292	0.73213	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.53640	4.62;4.62;4.62;4.44;4.62;4.59;0.61;4.07	5.97	5.05	0.67936	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	T	0.47021	0.1423	L	0.29908	0.895	0.53688	D	0.999976	D;D;D;D;P;D	0.69078	0.963;0.997;0.982;0.982;0.954;0.997	D;D;D;D;D;D	0.77004	0.966;0.989;0.961;0.961;0.943;0.989	T	0.55742	-0.8093	10	0.72032	D	0.01	-16.838	14.3084	0.66400	0.0725:0.0:0.9275:0.0	.	1013;1066;980;1031;1022;1075	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	L	1022;1075;1022;980;1066;1013;437;1031	ENSP00000376484:F1022L;ENSP00000271715:F1075L;ENSP00000354467:F1022L;ENSP00000357856:F980L;ENSP00000386836:F1066L;ENSP00000431259:F1013L;ENSP00000443547:F437L;ENSP00000418408:F1031L	ENSP00000271715:F1075L	F	-	3	2	POGZ	149644910	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.151000	0.71806	1.501000	0.48654	0.655000	0.94253	TTC	POGZ	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom	ENSG00000143442		0.522	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	85	0.00	0	G	NM_207171		151378286	151378286	-1	no_errors	ENST00000271715	ensembl	human	known	69_37n	missense	47	22.95	14	SNP	1.000	C
POLR1B	84172	genome.wustl.edu	37	2	113332582	113332582	+	Missense_Mutation	SNP	G	G	T	rs570651851		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:113332582G>T	ENST00000263331.5	+	15	3264	c.2684G>T	c.(2683-2685)aGa>aTa	p.R895I	POLR1B_ENST00000541869.1_Missense_Mutation_p.R933I|POLR1B_ENST00000537335.1_Missense_Mutation_p.R684I|POLR1B_ENST00000409894.3_Missense_Mutation_p.R712I|POLR1B_ENST00000417433.2_Missense_Mutation_p.R839I	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	895					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ATTTTAAGCAGATTGTGGCCG	0.493																																					Ovarian(16;256 576 9537 23969 41147)	dbGAP											0													134.0	132.0	133.0					2																	113332582		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2684G>T	2.37:g.113332582G>T	ENSP00000263331:p.Arg895Ile		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.R933I	ENST00000263331.5	37	c.2798	CCDS2097.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732982	0.89482	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000458012;ENST00000536096	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	6.17	6.17	0.99709	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.088474	0.64402	D	0.000001	T	0.72145	0.3424	N	0.11818	0.18	0.80722	D	1	P;P;B;P	0.52316	0.865;0.741;0.021;0.952	B;B;B;P	0.57846	0.366;0.2;0.01;0.828	T	0.67213	-0.5727	10	0.16420	T	0.52	-13.1084	19.6509	0.95805	0.0:0.0:1.0:0.0	.	933;712;839;895	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	I	895;933;712;684;839;280;254	ENSP00000263331:R895I;ENSP00000444136:R933I;ENSP00000387143:R712I;ENSP00000437914:R684I;ENSP00000405358:R839I;ENSP00000394408:R280I	ENSP00000263331:R895I	R	+	2	0	POLR1B	113049053	1.000000	0.71417	0.606000	0.28943	0.874000	0.50279	7.543000	0.82106	2.941000	0.99782	0.655000	0.94253	AGA	POLR1B	-	pfam_DNA-dir_RNA_pol_su2_6	ENSG00000125630		0.493	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	85	0.00	0	G	NM_019014		113332582	113332582	+1	no_errors	ENST00000541869	ensembl	human	known	69_37n	missense	33	43.10	25	SNP	0.978	T
POLR2J4	84820	genome.wustl.edu	37	7	44012857	44012857	+	RNA	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:44012857G>A	ENST00000427076.1	-	0	959				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		GTGGAAGGTGGGCGGCAGGTG	0.622																																						dbGAP											0																																										-	-	-			0					7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44012857G>A				RNA	SNP	-	NULL	ENST00000427076.1	37	NULL		7																																																																																			POLR2J4	-	-	ENSG00000214783		0.622	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	POLR2J4	HGNC	processed_transcript	OTTHUMT00000473169.1	70	0.00	0	G	NR_003655		44012857	44012857	-1	no_errors	ENST00000422304	ensembl	human	known	69_37n	rna	27	25.00	9	SNP	1.000	A
POTEJ	653781	genome.wustl.edu	37	2	131369256	131369256	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:131369256G>A	ENST00000409602.1	+	1	203	c.151G>A	c.(151-153)Gac>Aac	p.D51N		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	51					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						AGACCAGGACGACTCCACTAT	0.612																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.151G>A	2.37:g.131369256G>A	ENSP00000387176:p.Asp51Asn			Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.D51N	ENST00000409602.1	37	c.151	CCDS59432.1	2	.	.	.	.	.	.	.	.	.	.	.	7.655	0.683793	0.14907	.	.	ENSG00000222038	ENST00000409602	T	0.81163	-1.46	0.109	0.109	0.14578	.	.	.	.	.	T	0.78201	0.4246	L	0.53249	1.67	0.09310	N	1	.	.	.	.	.	.	T	0.69397	-0.5156	6	0.87932	D	0	.	.	.	.	.	.	.	.	N	51	ENSP00000387176:D51N	ENSP00000387176:D51N	D	+	1	0	POTEJ	131085726	0.005000	0.15991	0.025000	0.17156	0.026000	0.11368	-0.039000	0.12124	0.181000	0.19994	0.184000	0.17185	GAC	POTEJ	-	NULL	ENSG00000222038		0.612	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEJ	HGNC	protein_coding	OTTHUMT00000333665.1	26	0.00	0	G	XM_929706		131369256	131369256	+1	no_errors	ENST00000409602	ensembl	human	novel	69_37n	missense	10	23.08	3	SNP	0.027	A
POTEM	641455	genome.wustl.edu	37	14	20002272	20002272	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:20002272C>G	ENST00000551509.1	-	7	1201	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	384										endometrium(4)|kidney(1)|lung(4)	9						GACTCTTCCTCTGATGTCAGC	0.303																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.1150G>C	14.37:g.20002272C>G	ENSP00000452296:p.Glu384Gln			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E384Q	ENST00000551509.1	37	c.1150	CCDS45076.1	14	.	.	.	.	.	.	.	.	.	.	c	12.01	1.809045	0.31961	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.28666	1.6	1.18	-0.917	0.10485	.	.	.	.	.	T	0.18173	0.0436	L	0.32530	0.975	0.09310	N	1	B	0.28713	0.22	B	0.28638	0.092	T	0.25537	-1.0129	8	.	.	.	.	3.8855	0.09096	0.0:0.4898:0.0:0.5102	.	384	A6NI47	POTEM_HUMAN	Q	384;469;384	ENSP00000452296:E384Q	.	E	-	1	0	POTEM	19072272	0.000000	0.05858	0.106000	0.21319	0.581000	0.36288	-0.329000	0.07935	-0.339000	0.08401	0.184000	0.17185	GAG	POTEM	-	NULL	ENSG00000187537		0.303	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	228	0.00	0	C	NM_001145442		20002272	20002272	-1	no_errors	ENST00000547848	ensembl	human	known	69_37n	missense	224	16.10	43	SNP	0.158	G
PPAT	5471	genome.wustl.edu	37	4	57269520	57269520	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:57269520C>T	ENST00000264220.2	-	4	587	c.450G>A	c.(448-450)atG>atA	p.M150I	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	150	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	ACTGGGTAATCATTTCACTAT	0.458																																						dbGAP											0													79.0	76.0	77.0					4																	57269520		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.450G>A	4.37:g.57269520C>T	ENSP00000264220:p.Met150Ile			Missense_Mutation	SNP	pfam_GATase_dom,pfam_PRibTrfase,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans	p.M150I	ENST00000264220.2	37	c.450	CCDS3505.1	4	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022246	0.35701	.	.	ENSG00000128059	ENST00000264220	T	0.75154	-0.91	5.51	5.51	0.81932	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.045397	0.85682	D	0.000000	T	0.46698	0.1406	N	0.00395	-1.55	0.39990	D	0.975023	B	0.06786	0.001	B	0.08055	0.003	T	0.50825	-0.8782	10	0.42905	T	0.14	-33.9718	19.4001	0.94625	0.0:1.0:0.0:0.0	.	150	Q06203	PUR1_HUMAN	I	150	ENSP00000264220:M150I	ENSP00000264220:M150I	M	-	3	0	PPAT	56964277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.399000	0.44495	2.593000	0.87608	0.655000	0.94253	ATG	PPAT	-	pfam_GATase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans	ENSG00000128059		0.458	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAT	HGNC	protein_coding	OTTHUMT00000250781.2	45	0.00	0	C	NM_002703		57269520	57269520	-1	no_errors	ENST00000264220	ensembl	human	known	69_37n	missense	41	35.94	23	SNP	1.000	T
PPIG	9360	genome.wustl.edu	37	2	170488298	170488298	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:170488298G>C	ENST00000260970.3	+	11	1004	c.784G>C	c.(784-786)Gaa>Caa	p.E262Q	PPIG_ENST00000448752.2_Missense_Mutation_p.E262Q|PPIG_ENST00000409714.3_Missense_Mutation_p.E247Q|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000462903.1_Missense_Mutation_p.E262Q	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	262					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GAGTGAAGCTGAAAATCTTGA	0.398																																						dbGAP											0													164.0	147.0	153.0					2																	170488298		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.784G>C	2.37:g.170488298G>C	ENSP00000260970:p.Glu262Gln		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E262Q	ENST00000260970.3	37	c.784	CCDS2235.1	2	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760993	0.49468	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752	T;T;T;T;T	0.31510	2.21;1.79;2.19;1.49;2.21	4.93	4.93	0.64822	.	0.114803	0.64402	D	0.000011	T	0.32526	0.0832	L	0.60845	1.875	0.49915	D	0.99983	B;B;B;P;B	0.46784	0.155;0.048;0.048;0.884;0.048	B;B;B;B;B	0.40477	0.098;0.067;0.067;0.33;0.067	T	0.11446	-1.0587	10	0.22109	T	0.4	-11.7195	18.1467	0.89659	0.0:0.0:1.0:0.0	.	255;247;247;262;262	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	Q	262;262;255;247;262;262	ENSP00000260970:E262Q;ENSP00000408683:E255Q;ENSP00000386245:E247Q;ENSP00000435987:E262Q;ENSP00000407083:E262Q	ENSP00000260970:E262Q	E	+	1	0	PPIG	170196544	1.000000	0.71417	0.974000	0.42286	0.632000	0.37999	7.875000	0.87205	2.268000	0.75426	0.467000	0.42956	GAA	PPIG	-	NULL	ENSG00000138398		0.398	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIG	HGNC	protein_coding	OTTHUMT00000255264.2	80	0.00	0	G			170488298	170488298	+1	no_errors	ENST00000260970	ensembl	human	known	69_37n	missense	72	29.41	30	SNP	1.000	C
PPL	5493	genome.wustl.edu	37	16	4938213	4938213	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:4938213C>G	ENST00000345988.2	-	20	2493	c.2404G>C	c.(2404-2406)Gag>Cag	p.E802Q	PPL_ENST00000590782.2_Missense_Mutation_p.E800Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	802					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTTCTAACTCATAGTCCTGC	0.512																																						dbGAP											0													105.0	97.0	100.0					16																	4938213		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2404G>C	16.37:g.4938213C>G	ENSP00000340510:p.Glu802Gln		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E802Q	ENST00000345988.2	37	c.2404	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575128	0.86542	.	.	ENSG00000118898	ENST00000345988	T	0.72282	-0.64	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.76002	2.32	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	D	0.86268	0.1659	10	0.87932	D	0	.	18.7509	0.91814	0.0:1.0:0.0:0.0	.	802	O60437	PEPL_HUMAN	Q	802	ENSP00000340510:E802Q	ENSP00000340510:E802Q	E	-	1	0	PPL	4878214	1.000000	0.71417	0.993000	0.49108	0.873000	0.50193	7.456000	0.80751	2.442000	0.82660	0.561000	0.74099	GAG	PPL	-	smart_Spectrin/alpha-actinin	ENSG00000118898		0.512	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	71	0.00	0	C	NM_002705		4938213	4938213	-1	no_errors	ENST00000345988	ensembl	human	known	69_37n	missense	59	34.44	31	SNP	1.000	G
PPM1H	57460	genome.wustl.edu	37	12	63226010	63226010	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:63226010C>T	ENST00000228705.6	-	2	595	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	99							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GTGAGCACCTCACAGCTGGCT	0.557																																						dbGAP											0													68.0	67.0	68.0					12																	63226010		1965	4160	6125	-	-	-	SO:0001583	missense	0			AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.295G>A	12.37:g.63226010C>T	ENSP00000228705:p.Glu99Lys		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E99K	ENST00000228705.6	37	c.295	CCDS44934.1	12	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882860	0.91740	.	.	ENSG00000111110	ENST00000228705	T	0.49139	0.79	5.64	5.64	0.86602	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.66297	2.02	0.80722	D	1	P	0.41710	0.76	B	0.44163	0.443	T	0.52704	-0.8540	9	.	.	.	.	17.8834	0.88848	0.0:1.0:0.0:0.0	.	99	Q9ULR3	PPM1H_HUMAN	K	99	ENSP00000228705:E99K	.	E	-	1	0	PPM1H	61512277	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.167000	0.77562	2.670000	0.90874	0.650000	0.86243	GAG	PPM1H	-	superfamily_PP2C-like,smart_PP2C-like	ENSG00000111110		0.557	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1H	HGNC	protein_coding	OTTHUMT00000406760.2	58	0.00	0	C	NM_020700		63226010	63226010	-1	no_errors	ENST00000228705	ensembl	human	known	69_37n	missense	35	39.66	23	SNP	1.000	T
PPM1M	132160	genome.wustl.edu	37	3	52282423	52282423	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:52282423G>A	ENST00000296487.4	+	6	789	c.385G>A	c.(385-387)Gac>Aac	p.D129N	PPM1M_ENST00000409502.3_Missense_Mutation_p.D78N|PPM1M_ENST00000457351.2_Missense_Mutation_p.D290N|PPM1M_ENST00000323588.4_Missense_Mutation_p.D129N			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	129	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GAAGGGGGATGACTTGGGACA	0.612																																					NSCLC(151;810 2688 34365 49863)	dbGAP											0													39.0	40.0	40.0					3																	52282423		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096681	CCDS46840.1	3p21.31	2012-04-17	2010-03-05		ENSG00000164088	ENSG00000164088		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26506	protein-coding gene	gene with protein product	"""protein phosphatase 2C eta"""	608979	"""protein phosphatase 1M (PP2C domain containing)"""			12477932	Standard	NM_001122870		Approved	PP2Ceta, FLJ32332	uc011bed.2	Q96MI6	OTTHUMG00000153046	ENST00000296487.4:c.385G>A	3.37:g.52282423G>A	ENSP00000296487:p.Asp129Asn		Q8N8J9|Q96DB8	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.D290N	ENST00000296487.4	37	c.868		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.264867|5.264867	0.95399|0.95399	.|.	.|.	ENSG00000164088|ENSG00000164088	ENST00000457351;ENST00000296487;ENST00000409502;ENST00000323588|ENST00000457454	T;T;T;T|.	0.48522|.	1.78;1.34;0.81;1.36|.	4.5|4.5	4.5|4.5	0.54988|0.54988	Protein phosphatase 2C-like (2);|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.67477|0.67477	0.2897|0.2897	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;P|.	0.76494|.	0.999;0.866|.	D;P|.	0.63488|.	0.915;0.566|.	T|T	0.65726|0.65726	-0.6098|-0.6098	10|5	0.40728|.	T|.	0.16|.	0.1751|0.1751	15.5371|15.5371	0.76013|0.76013	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	290;129|.	B7XGB9;Q96MI6|.	.;PPM1M_HUMAN|.	N|I	290;129;78;129|184	ENSP00000393747:D290N;ENSP00000296487:D129N;ENSP00000387046:D78N;ENSP00000319894:D129N|.	ENSP00000296487:D129N|.	D|M	+|+	1|3	0|0	PPM1M|PPM1M	52257463|52257463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.312000|8.312000	0.89976|0.89976	2.327000|2.327000	0.79052|0.79052	0.561000|0.561000	0.74099|0.74099	GAC|ATG	PPM1M	-	superfamily_PP2C-like,smart_PP2C-like	ENSG00000164088		0.612	PPM1M-001	KNOWN	basic	protein_coding	PPM1M	HGNC	protein_coding	OTTHUMT00000329230.2	103	0.00	0	G	NM_144641		52282423	52282423	+1	no_errors	ENST00000457351	ensembl	human	known	69_37n	missense	31	38.00	19	SNP	1.000	A
PPP1R12C	54776	genome.wustl.edu	37	19	55623917	55623917	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:55623917G>C	ENST00000263433.3	-	3	504	c.489C>G	c.(487-489)gtC>gtG	p.V163V	PPP1R12C_ENST00000376393.2_Silent_p.V163V|PPP1R12C_ENST00000435544.2_Silent_p.V89V	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CGTCACTGTTGACGGCGGCGA	0.726																																						dbGAP											0													24.0	29.0	27.0					19																	55623917		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.489C>G	19.37:g.55623917G>C				Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S120*	ENST00000263433.3	37	c.359	CCDS12916.1	19																																																																																			PPP1R12C	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000125503		0.726	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12C	HGNC	protein_coding	OTTHUMT00000451814.2	10	0.00	0	G	NM_017607		55623917	55623917	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000592993	ensembl	human	novel	69_37n	nonsense	7	41.67	5	SNP	0.998	C
PPP1R3F	89801	genome.wustl.edu	37	X	49143510	49143510	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:49143510C>T	ENST00000055335.6	+	4	2374	c.2358C>T	c.(2356-2358)ctC>ctT	p.L786L	PPP1R3F_ENST00000466508.1_Silent_p.L440L|PPP1R3F_ENST00000438316.1_Silent_p.L457L|PPP1R3F_ENST00000376188.1_Silent_p.L440L|PPP1R3F_ENST00000495799.1_Silent_p.L440L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	786					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GTGTGTCCCTCCTGGTGCTTG	0.622																																						dbGAP											0													62.0	49.0	53.0					X																	49143510		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2358C>T	X.37:g.49143510C>T			A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	pfam_CBM_21,pfscan_CBM_21	p.L786	ENST00000055335.6	37	c.2358	CCDS35254.1	X																																																																																			PPP1R3F	-	NULL	ENSG00000049769		0.622	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	HGNC	protein_coding	OTTHUMT00000060819.2	74	0.00	0	C	NM_033215		49143510	49143510	+1	no_errors	ENST00000055335	ensembl	human	known	69_37n	silent	24	35.14	13	SNP	0.993	T
PPP2R5D	5528	genome.wustl.edu	37	6	42974749	42974749	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:42974749C>G	ENST00000485511.1	+	4	602	c.423C>G	c.(421-423)ttC>ttG	p.F141L	PPP2R5D_ENST00000461010.1_Missense_Mutation_p.F35L|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.F133L|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.F109L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	141					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACCTCAAATTCAAGGAGGTGA	0.542																																					Melanoma(63;587 1613 29742 31770)	dbGAP											0													124.0	119.0	121.0					6																	42974749		2203	4300	6503	-	-	-	SO:0001583	missense	0			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.423C>G	6.37:g.42974749C>G	ENSP00000417963:p.Phe141Leu		A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.F141L	ENST00000485511.1	37	c.423	CCDS4878.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.958|7.958	0.746299|0.746299	0.15710|0.15710	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	T;T;T;T|.	0.41400|.	1.0;1.01;1.01;1.01|.	5.18|5.18	2.04|2.04	0.26737|0.26737	Armadillo-type fold (1);|.	0.112602|.	0.64402|.	D|.	0.000006|.	T|T	0.10380|0.10380	0.0254|0.0254	N|N	0.04508|0.04508	-0.205|-0.205	0.39778|0.39778	D|D	0.972267|0.972267	B;B;B|.	0.11235|.	0.001;0.004;0.003|.	B;B;B|.	0.25405|.	0.004;0.06;0.007|.	T|T	0.06552|0.06552	-1.0820|-1.0820	10|5	0.11794|.	T|.	0.64|.	-14.5502|-14.5502	7.1741|7.1741	0.25734|0.25734	0.0:0.5714:0.2598:0.1688|0.0:0.5714:0.2598:0.1688	.|.	35;141;109|.	Q14738-3;Q14738;Q14738-2|.	.;2A5D_HUMAN;.|.	L|E	141;109;133;141;35|61	ENSP00000417963:F141L;ENSP00000377669:F109L;ENSP00000420550:F133L;ENSP00000420674:F35L|.	ENSP00000377669:F109L|.	F|Q	+|+	3|1	2|0	PPP2R5D|PPP2R5D	43082727|43082727	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	0.598000|0.598000	0.24074|0.24074	0.681000|0.681000	0.31386|0.31386	-0.367000|-0.367000	0.07326|0.07326	TTC|CAA	PPP2R5D	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000112640		0.542	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5D	HGNC	protein_coding	OTTHUMT00000040573.3	52	0.00	0	C	NM_006245		42974749	42974749	+1	no_errors	ENST00000485511	ensembl	human	known	69_37n	missense	50	39.76	33	SNP	0.999	G
PRAMEF1	65121	genome.wustl.edu	37	1	12856052	12856052	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:12856052C>T	ENST00000332296.7	+	4	1435	c.1332C>T	c.(1330-1332)gtC>gtT	p.V444V	PRAMEF1_ENST00000400814.3_Silent_p.V199V	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	444					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGGAAGTCAGGCAGCCCA	0.562																																						dbGAP											0													168.0	174.0	172.0					1																	12856052		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1332C>T	1.37:g.12856052C>T			Q9UQP2	Silent	SNP	NULL	p.V444	ENST00000332296.7	37	c.1332	CCDS148.1	1																																																																																			PRAMEF1	-	NULL	ENSG00000116721		0.562	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	359	0.00	0	C	NM_023013		12856052	12856052	+1	no_errors	ENST00000332296	ensembl	human	known	69_37n	silent	119	27.88	46	SNP	0.000	T
PRAMEF10	343071	genome.wustl.edu	37	1	12955648	12955648	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:12955648C>G	ENST00000235347.4	-	2	110	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	11					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCAGCTCCAGCAGTCTG	0.547																																						dbGAP											0													5.0	4.0	4.0					1																	12955648		1461	2950	4411	-	-	-	SO:0001583	missense	0			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.31G>C	1.37:g.12955648C>G	ENSP00000235347:p.Glu11Gln		Q2M1V2	Missense_Mutation	SNP	NULL	p.E11Q	ENST00000235347.4	37	c.31	CCDS41255.1	1	.	.	.	.	.	.	.	.	.	.	.	5.409	0.260717	0.10239	.	.	ENSG00000187545	ENST00000235347	T	0.05199	3.48	1.99	-3.98	0.04082	.	0.955911	0.08664	N	0.911970	T	0.05273	0.0140	L	0.46947	1.48	0.09310	N	1	B	0.16396	0.017	B	0.17979	0.02	T	0.41840	-0.9486	10	0.26408	T	0.33	.	4.2268	0.10584	0.0:0.2103:0.3522:0.4375	.	11	O60809	PRA10_HUMAN	Q	11	ENSP00000235347:E11Q	ENSP00000235347:E11Q	E	-	1	0	PRAMEF10	12878235	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.718000	0.04980	-1.564000	0.01678	-0.723000	0.03601	GAG	PRAMEF10	-	NULL	ENSG00000187545		0.547	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	HGNC	protein_coding	OTTHUMT00000005512.2	20	0.00	0	C	XM_496342		12955648	12955648	-1	no_errors	ENST00000235347	ensembl	human	known	69_37n	missense	2	91.30	21	SNP	0.000	G
PRC1	9055	genome.wustl.edu	37	15	91524794	91524794	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:91524794C>T	ENST00000361188.5	-	5	1818	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.E162K|PRC1_ENST00000361919.3_Missense_Mutation_p.E203K|PRC1_ENST00000556129.1_5'Flank|PRC1_ENST00000394249.3_Missense_Mutation_p.E203K					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCTTCGTCTTCACACACCACA	0.433																																						dbGAP											0													161.0	140.0	147.0					15																	91524794		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.607G>A	15.37:g.91524794C>T	ENSP00000354679:p.Glu203Lys			Missense_Mutation	SNP	pfam_Microtubule-assoc_MAP65_ASE1	p.E203K	ENST00000361188.5	37	c.607	CCDS45352.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.058147	0.97246	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.76575	0.984;0.979;0.979;0.979;0.988	T	0.63699	-0.6578	10	0.24483	T	0.36	.	18.6588	0.91465	0.0:1.0:0.0:0.0	.	151;162;203;203;203	B4E238;O43663-3;F8W9B5;O43663-2;O43663	.;.;.;.;PRC1_HUMAN	K	203;203;203;162	ENSP00000377793:E203K;ENSP00000354618:E203K;ENSP00000354679:E203K;ENSP00000409549:E162K	ENSP00000354679:E203K	E	-	1	0	PRC1	89325798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.272000	0.65559	2.746000	0.94184	0.655000	0.94253	GAA	PRC1	-	pfam_Microtubule-assoc_MAP65_ASE1	ENSG00000198901		0.433	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRC1	HGNC	protein_coding	OTTHUMT00000414760.1	92	0.00	0	C	NM_003981		91524794	91524794	-1	no_errors	ENST00000394249	ensembl	human	known	69_37n	missense	89	27.05	33	SNP	1.000	T
PREPL	9581	genome.wustl.edu	37	2	44556128	44556128	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:44556128C>G	ENST00000409936.1	-	10	1914	c.1477G>C	c.(1477-1479)Gag>Cag	p.E493Q	PREPL_ENST00000541738.1_Missense_Mutation_p.E404Q|PREPL_ENST00000409411.1_Missense_Mutation_p.E404Q|PREPL_ENST00000260648.6_Missense_Mutation_p.E493Q|PREPL_ENST00000378520.3_Missense_Mutation_p.E427Q|PREPL_ENST00000378511.3_Missense_Mutation_p.E431Q|PREPL_ENST00000410081.1_Missense_Mutation_p.E493Q|PREPL_ENST00000409272.1_Missense_Mutation_p.E493Q|PREPL_ENST00000409957.1_Missense_Mutation_p.E404Q	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	493						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCCGCCTCTCAGGCCTGAAA	0.433																																						dbGAP											0													104.0	100.0	102.0					2																	44556128		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1477G>C	2.37:g.44556128C>G	ENSP00000386543:p.Glu493Gln		A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.E493Q	ENST00000409936.1	37	c.1477	CCDS33190.1	2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484854	0.84854	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511	T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	6.02	6.02	0.97574	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.050076	0.85682	D	0.000000	T	0.50137	0.1598	L	0.41079	1.255	0.80722	D	1	D;P;D	0.89917	0.996;0.544;1.0	D;B;D	0.77004	0.986;0.241;0.989	T	0.31613	-0.9937	10	0.48119	T	0.1	-17.2962	20.547	0.99278	0.0:1.0:0.0:0.0	.	431;427;493	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	Q	404;404;404;493;493;493;493;427;431	ENSP00000439626:E404Q;ENSP00000387095:E404Q;ENSP00000387241:E404Q;ENSP00000386543:E493Q;ENSP00000260648:E493Q;ENSP00000386909:E493Q;ENSP00000386509:E493Q;ENSP00000367781:E427Q;ENSP00000367772:E431Q	ENSP00000260648:E493Q	E	-	1	0	PREPL	44409632	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.850000	0.98022	0.650000	0.86243	GAG	PREPL	-	pfam_Peptidase_S9	ENSG00000138078		0.433	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	74	0.00	0	C	NM_006036		44556128	44556128	-1	no_errors	ENST00000260648	ensembl	human	known	69_37n	missense	56	35.63	31	SNP	1.000	G
PRKCD	5580	genome.wustl.edu	37	3	53217174	53217174	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:53217174G>C	ENST00000394729.2	+	7	937	c.609G>C	c.(607-609)aaG>aaC	p.K203N	PRKCD_ENST00000330452.3_Missense_Mutation_p.K203N	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	203					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GCATCGACAAGATCATCGGCA	0.617																																						dbGAP											0													54.0	53.0	54.0					3																	53217174		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.609G>C	3.37:g.53217174G>C	ENSP00000378217:p.Lys203Asn		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K203N	ENST00000394729.2	37	c.609	CCDS2870.1	3	.	.	.	.	.	.	.	.	.	.	G	8.600	0.886685	0.17540	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	D;D	0.93189	-3.18;-3.18	5.21	4.34	0.51931	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.042733	0.85682	D	0.000000	D	0.92545	0.7632	L	0.41824	1.3	0.51233	D	0.999913	D	0.53619	0.961	P	0.57009	0.811	D	0.90369	0.4379	10	0.33141	T	0.24	.	9.773	0.40601	0.1675:0.0:0.8324:0.0	.	203	Q05655	KPCD_HUMAN	N	203	ENSP00000378217:K203N;ENSP00000331602:K203N	ENSP00000331602:K203N	K	+	3	2	PRKCD	53192214	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	2.814000	0.48010	1.210000	0.43336	-0.251000	0.11542	AAG	PRKCD	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000163932		0.617	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	39	0.00	0	G			53217174	53217174	+1	no_errors	ENST00000330452	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	1.000	C
PRKDC	5591	genome.wustl.edu	37	8	48869967	48869967	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:48869967G>T	ENST00000314191.2	-	2	235	c.179C>A	c.(178-180)tCc>tAc	p.S60Y	PRKDC_ENST00000338368.3_Missense_Mutation_p.S60Y|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	60					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAAATCTCTGGAAAAAACTAA	0.358								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													71.0	63.0	66.0					8																	48869967		1833	4086	5919	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.179C>A	8.37:g.48869967G>T	ENSP00000313420:p.Ser60Tyr		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S60Y	ENST00000314191.2	37	c.179		8	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590072	0.86851	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.70631	4.25;-0.5	5.16	5.16	0.70880	.	0.067687	0.64402	D	0.000012	D	0.83991	0.5374	.	.	.	0.53005	D	0.99996	D;D;D	0.67145	0.995;0.996;0.996	D;P;P	0.64776	0.929;0.885;0.885	D	0.85983	0.1484	9	0.72032	D	0.01	.	19.0087	0.92863	0.0:0.0:1.0:0.0	.	60;60;60	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	Y	60	ENSP00000313420:S60Y;ENSP00000345182:S60Y	ENSP00000313420:S60Y	S	-	2	0	PRKDC	49032520	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.407000	0.73280	2.532000	0.85374	0.655000	0.94253	TCC	PRKDC	-	NULL	ENSG00000253729		0.358	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		35	0.00	0	G	NM_001081640		48869967	48869967	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	75	34.48	40	SNP	1.000	T
PRKRIR	5612	genome.wustl.edu	37	11	76063380	76063382	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:76063380_76063382delCTG	ENST00000260045.3	-	5	917_919	c.812_814delCAG	c.(811-816)gcaggg>ggg	p.A271del	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	271					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGCTCTTCCCCTGCTATGTCCAC	0.438																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.812_814delCAG	11.37:g.76063380_76063382delCTG	ENSP00000260045:p.Ala271del		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	In_Frame_Del	DEL	pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.A271in_frame_del	ENST00000260045.3	37	c.814_812	CCDS8243.1	11																																																																																			PRKRIR	-	superfamily_RNaseH-like_dom	ENSG00000137492		0.438	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	HGNC	protein_coding	OTTHUMT00000383188.1	37	0.00	0	CTG	NM_004705		76063380	76063382	-1	no_errors	ENST00000260045	ensembl	human	known	69_37n	in_frame_del	29	29.27	12	DEL	0.989:0.902:0.999	-
PRPF38B	55119	genome.wustl.edu	37	1	109235463	109235463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:109235463G>T	ENST00000370025.4	+	1	519	c.250G>T	c.(250-252)Gag>Tag	p.E84*	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Nonsense_Mutation_p.E84*|PRPF38B_ENST00000370021.1_5'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	84					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GACCTACCACGAGGTGGTGGA	0.542																																						dbGAP											0													103.0	80.0	88.0					1																	109235463		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.250G>T	1.37:g.109235463G>T	ENSP00000359042:p.Glu84*		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Nonsense_Mutation	SNP	pfam_PRP38	p.E84*	ENST00000370025.4	37	c.250	CCDS788.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.005229	0.98605	.	.	ENSG00000134186	ENST00000370025;ENST00000370022	.	.	.	5.42	3.46	0.39613	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.0885	0.48102	0.071:0.1277:0.8013:0.0	.	.	.	.	X	84	.	ENSP00000359039:E84X	E	+	1	0	PRPF38B	109036986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.817000	0.86213	1.226000	0.43582	0.462000	0.41574	GAG	PRPF38B	-	pfam_PRP38	ENSG00000134186		0.542	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38B	HGNC	protein_coding	OTTHUMT00000030231.1	10	0.00	0	G	NM_018061		109235463	109235463	+1	no_errors	ENST00000370025	ensembl	human	known	69_37n	nonsense	10	44.44	8	SNP	1.000	T
PRRC2A	7916	genome.wustl.edu	37	6	31598380	31598380	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:31598380G>A	ENST00000376033.2	+	15	2501	c.2267G>A	c.(2266-2268)cGa>cAa	p.R756Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R756Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	756	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTAGTTCCCCGAGAGCGTTCA	0.522																																						dbGAP											0													84.0	80.0	81.0					6																	31598380		2203	4300	6503	-	-	-	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2267G>A	6.37:g.31598380G>A	ENSP00000365201:p.Arg756Gln		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.R756Q	ENST00000376033.2	37	c.2267	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446220	0.63178	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.05025	3.51;3.51	5.3	5.3	0.74995	.	0.000000	0.49916	D	0.000126	T	0.13927	0.0337	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00686	-1.1610	10	0.87932	D	0	-13.7091	17.8936	0.88879	0.0:0.0:1.0:0.0	.	756	P48634	PRC2A_HUMAN	Q	756;745;756;756	ENSP00000365175:R756Q;ENSP00000365201:R756Q	ENSP00000365175:R756Q	R	+	2	0	PRRC2A	31706359	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.767000	0.85331	2.769000	0.95229	0.655000	0.94253	CGA	PRRC2A	-	NULL	ENSG00000204469		0.522	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	95	0.00	0	G	NM_080686		31598380	31598380	+1	no_errors	ENST00000376007	ensembl	human	known	69_37n	missense	31	39.22	20	SNP	1.000	A
PRRC2C	23215	genome.wustl.edu	37	1	171553136	171553136	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:171553136C>G	ENST00000338920.4	+	29	7682	c.7445C>G	c.(7444-7446)tCt>tGt	p.S2482C	PRRC2C_ENST00000392078.3_Missense_Mutation_p.S2484C|PRRC2C_ENST00000367742.3_Missense_Mutation_p.S2484C|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S2417C	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2482	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TCCCAGCCATCTGTGGTCCTT	0.393																																						dbGAP											0													122.0	114.0	117.0					1																	171553136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7445C>G	1.37:g.171553136C>G	ENSP00000343629:p.Ser2482Cys		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.S2484C	ENST00000338920.4	37	c.7451	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.69|18.69	3.678191|3.678191	0.68042|0.68042	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.03951	.|3.75;3.78;3.78;3.78	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.45867	.|D	.|0.000328	T|T	0.16041|0.16041	0.0386|0.0386	M|M	0.65498|0.65498	2.005|2.005	0.47949|0.47949	D|D	0.999559|0.999559	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.80764	.|0.945;0.994	T|T	0.00294|0.00294	-1.1840|-1.1840	5|10	.|0.87932	.|D	.|0	.|.	20.4581|20.4581	0.99154|0.99154	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2417;2482	.|B7WNZ6;Q9Y520-4	.|.;.	V|C	965|2484;2436;2417;2484;2482;2239	.|ENSP00000375928:S2484C;ENSP00000410219:S2417C;ENSP00000356716:S2484C;ENSP00000343629:S2482C	.|ENSP00000343629:S2482C	L|S	+|+	1|2	2|0	PRRC2C|PRRC2C	169819760|169819760	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.487000|7.487000	0.81328|0.81328	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	CTG|TCT	PRRC2C	-	NULL	ENSG00000117523		0.393	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	79	0.00	0	C	NM_015172		171553136	171553136	+1	no_errors	ENST00000392078	ensembl	human	known	69_37n	missense	113	30.25	49	SNP	1.000	G
PRRG1	5638	genome.wustl.edu	37	X	37312566	37312566	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:37312566G>A	ENST00000542554.1	+	5	621	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	PRRG1_ENST00000543642.1_Missense_Mutation_p.E117K|PRRG1_ENST00000378628.4_Missense_Mutation_p.E117K|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Missense_Mutation_p.E117K	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	117						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GACAGTGACTGAAGGCCACAT	0.463																																						dbGAP											0													161.0	136.0	144.0					X																	37312566		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.349G>A	X.37:g.37312566G>A	ENSP00000444278:p.Glu117Lys		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	pfam_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.E117K	ENST00000542554.1	37	c.349	CCDS14239.1	X	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941070	0.53079	.	.	ENSG00000130962	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000449135	D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15	6.03	6.03	0.97812	.	0.273211	0.41294	D	0.000916	D	0.93923	0.8055	N	0.08118	0	0.31588	N	0.654258	B	0.17667	0.023	B	0.14023	0.01	D	0.89643	0.3864	10	0.10636	T	0.68	-9.5538	11.4405	0.50094	0.0839:0.0:0.9161:0.0	.	117	O14668	TMG1_HUMAN	K	117	ENSP00000367894:E117K;ENSP00000418384:E117K;ENSP00000444278:E117K;ENSP00000443271:E117K;ENSP00000390332:E117K	ENSP00000367894:E117K	E	+	1	0	PRRG1	37197487	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	6.116000	0.71571	2.561000	0.86390	0.523000	0.50628	GAA	PRRG1	-	NULL	ENSG00000130962		0.463	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG1	HGNC	protein_coding	OTTHUMT00000056228.2	100	0.00	0	G	NM_000950		37312566	37312566	+1	no_errors	ENST00000378628	ensembl	human	known	69_37n	missense	129	39.72	85	SNP	0.841	A
PRRG1	5638	genome.wustl.edu	37	X	37312734	37312734	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:37312734G>C	ENST00000542554.1	+	5	789	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	PRRG1_ENST00000543642.1_Missense_Mutation_p.E173Q|PRRG1_ENST00000378628.4_Missense_Mutation_p.E173Q|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Missense_Mutation_p.E173Q	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	173						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GCCAACCTATGAGGAAGCCAC	0.527																																						dbGAP											0													70.0	56.0	61.0					X																	37312734		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.517G>C	X.37:g.37312734G>C	ENSP00000444278:p.Glu173Gln		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	pfam_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.E173Q	ENST00000542554.1	37	c.517	CCDS14239.1	X	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311961	0.81358	.	.	ENSG00000130962	ENST00000378628;ENST00000542554;ENST00000543642;ENST00000449135	D;D;D;D	0.99304	-5.72;-5.72;-5.72;-5.72	5.96	5.96	0.96718	.	0.047477	0.85682	D	0.000000	D	0.99290	0.9752	M	0.68952	2.095	0.50632	D	0.999886	D	0.71674	0.998	D	0.78314	0.991	D	0.99793	1.1032	10	0.72032	D	0.01	-13.0541	17.7889	0.88547	0.0:0.0:1.0:0.0	.	173	O14668	TMG1_HUMAN	Q	173	ENSP00000367894:E173Q;ENSP00000444278:E173Q;ENSP00000443271:E173Q;ENSP00000390332:E173Q	ENSP00000367894:E173Q	E	+	1	0	PRRG1	37197655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.116000	0.71571	2.524000	0.85096	0.600000	0.82982	GAG	PRRG1	-	NULL	ENSG00000130962		0.527	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG1	HGNC	protein_coding	OTTHUMT00000056228.2	61	0.00	0	G	NM_000950		37312734	37312734	+1	no_errors	ENST00000378628	ensembl	human	known	69_37n	missense	57	37.36	34	SNP	1.000	C
PSG6	5675	genome.wustl.edu	37	19	43406569	43406569	+	IGR	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:43406569G>C	ENST00000292125.2	-	0	1391				PSG6_ENST00000402603.4_Missense_Mutation_p.H331D|PSG6_ENST00000187910.2_Missense_Mutation_p.H424D	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				agccattaatgagactctgtc	0.413																																						dbGAP											0													146.0	146.0	146.0					19																	43406569		2201	4300	6501	-	-	-	SO:0001628	intergenic_variant	0				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127		19.37:g.43406569G>C			O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.H424D	ENST00000292125.2	37	c.1270	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	N	0.053	-1.244574	0.01481	.	.	ENSG00000170848	ENST00000187910;ENST00000402603	T;T	0.29655	1.56;1.89	0.839	-1.68	0.08212	.	.	.	.	.	T	0.15478	0.0373	.	.	.	0.09310	N	1	B;B	0.26195	0.144;0.0	B;B	0.17098	0.017;0.0	T	0.18493	-1.0335	8	0.33940	T	0.23	.	2.1808	0.03874	0.4019:0.3228:0.2754:0.0	.	424;331	Q00889-2;B5MCE1	.;.	D	424;331	ENSP00000187910:H424D;ENSP00000385736:H331D	ENSP00000187910:H424D	H	-	1	0	PSG6	48098409	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-1.457000	0.02374	-0.925000	0.03775	-0.465000	0.05216	CAT	PSG6	-	NULL	ENSG00000170848		0.413	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	91	0.00	0	G	NM_002782		43406569	43406569	-1	no_errors	ENST00000187910	ensembl	human	known	69_37n	missense	73	38.66	46	SNP	0.004	C
PSMA3	5684	genome.wustl.edu	37	14	58718910	58718910	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:58718910G>A	ENST00000216455.4	+	3	268	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	PSMA3_ENST00000412908.2_Missense_Mutation_p.E60K|PSMA3_ENST00000557508.1_5'UTR	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	60					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						TAAACTTTATGAAGAAGGTTC	0.338																																						dbGAP											0													111.0	110.0	111.0					14																	58718910		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.178G>A	14.37:g.58718910G>A	ENSP00000216455:p.Glu60Lys		B2RCK6|Q86U83|Q8N1D8|Q9BS70	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.E60K	ENST00000216455.4	37	c.178	CCDS9731.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.123476	0.94429	.	.	ENSG00000100567	ENST00000216455;ENST00000412908	T;T	0.22134	1.97;1.97	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.987	T	0.43228	-0.9404	10	0.46703	T	0.11	-15.9794	20.0545	0.97645	0.0:0.0:1.0:0.0	.	60;60	P25788-2;P25788	.;PSA3_HUMAN	K	60	ENSP00000216455:E60K;ENSP00000390491:E60K	ENSP00000216455:E60K	E	+	1	0	PSMA3	57788663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.748000	0.94277	0.655000	0.94253	GAA	PSMA3	-	pfam_Proteasome_sua/b	ENSG00000100567		0.338	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1	84	0.00	0	G	NM_002788		58718910	58718910	+1	no_errors	ENST00000216455	ensembl	human	known	69_37n	missense	69	33.65	35	SNP	1.000	A
PSMD13	5719	genome.wustl.edu	37	11	250838	250838	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:250838G>A	ENST00000532097.1	+	10	1314	c.810G>A	c.(808-810)agG>agA	p.R270R	PSMD13_ENST00000431206.2_Silent_p.R272R|PSMD13_ENST00000352303.5_Silent_p.R270R	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	270	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|meiosis I (GO:0007127)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		AGCTTCTGAGGAAAATTCAGT	0.458											OREG0020657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													128.0	117.0	120.0					11																	250838		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"""Proteasome (prosome, macropain) subunits"""	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.810G>A	11.37:g.250838G>A		586	B3KT15|O75831|Q53XU2|Q9UNV3	Missense_Mutation	SNP	NULL	p.G181E	ENST00000532097.1	37	c.542	CCDS7692.1	11	.	.	.	.	.	.	.	.	.	.	G	10.64	1.408120	0.25378	.	.	ENSG00000185627	ENST00000526783	.	.	.	5.7	4.79	0.61399	.	.	.	.	.	T	0.69566	0.3125	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68872	-0.5294	4	.	.	.	.	13.5151	0.61535	0.0755:0.0:0.9245:0.0	.	.	.	.	E	181	.	.	G	+	2	0	PSMD13	240838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.811000	0.55620	1.551000	0.49450	0.655000	0.94253	GGA	PSMD13	-	NULL	ENSG00000185627		0.458	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD13	HGNC	protein_coding	OTTHUMT00000239286.2	77	0.00	0	G	NM_002817		250838	250838	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000526783	ensembl	human	novel	69_37n	missense	71	27.55	27	SNP	1.000	A
PSMD4	5710	genome.wustl.edu	37	1	151239035	151239035	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:151239035C>G	ENST00000368884.3	+	9	1015	c.935C>G	c.(934-936)tCa>tGa	p.S312*	PSMD4_ENST00000368881.4_Nonsense_Mutation_p.S315*	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	312					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GATGCCAGCTCAGCTATGGAC	0.542																																						dbGAP											0													90.0	80.0	83.0					1																	151239035		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.935C>G	1.37:g.151239035C>G	ENSP00000357879:p.Ser312*		D3DV16|Q5VWC5|Q9NS92	Nonsense_Mutation	SNP	pfam_Ubiquitin-int_motif,pfam_Ssl1-like,smart_VWF_A,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_VWF_A	p.S312*	ENST00000368884.3	37	c.935	CCDS991.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.665040|4.665040	0.88251|0.88251	.|.	.|.	ENSG00000159352|ENSG00000159352	ENST00000453615|ENST00000368884;ENST00000368881	.|.	.|.	.|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.123441	.|0.35870	.|N	.|0.002934	T|.	0.67268|.	0.2875|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61466|.	-0.7057|.	4|.	.|0.33141	.|T	.|0.24	-7.0508|-7.0508	19.1682|19.1682	0.93565|0.93565	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	6|312;315	.|.	.|ENSP00000357876:S315X	Q|S	+|+	1|2	0|0	PSMD4|PSMD4	149505659|149505659	0.963000|0.963000	0.33076|0.33076	1.000000|1.000000	0.80357|0.80357	0.784000|0.784000	0.44337|0.44337	5.628000|5.628000	0.67791|0.67791	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	CAG|TCA	PSMD4	-	NULL	ENSG00000159352		0.542	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD4	HGNC	protein_coding	OTTHUMT00000034409.3	142	0.00	0	C	NM_002810		151239035	151239035	+1	no_errors	ENST00000368884	ensembl	human	known	69_37n	nonsense	59	18.06	13	SNP	1.000	G
PTBP1	5725	genome.wustl.edu	37	19	805560	805560	+	Intron	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:805560C>G	ENST00000349038.4	+	8	965				MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.Q314E|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Missense_Mutation_p.Q321E	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGCCATTCCTCAAGCTGCAGG	0.567																																						dbGAP											0													252.0	266.0	262.0					19																	805560		2059	4182	6241	-	-	-	SO:0001627	intron_variant	0			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.892+373C>G	19.37:g.805560C>G			Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.Q321E	ENST00000349038.4	37	c.961	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072019	0.36566	.	.	ENSG00000011304	ENST00000356948;ENST00000394601	T;T	0.46819	0.94;0.86	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	.	.	.	0.80722	D	1	B;B	0.20988	0.05;0.027	B;B	0.16722	0.015;0.016	T	0.14504	-1.0470	9	0.26408	T	0.33	-10.7691	17.5549	0.87887	0.0:1.0:0.0:0.0	.	314;321	P26599-2;Q9BUQ0	.;.	E	321;314	ENSP00000349428:Q321E;ENSP00000408096:Q314E	ENSP00000349428:Q321E	Q	+	1	0	PTBP1	756560	1.000000	0.71417	0.977000	0.42913	0.978000	0.69477	7.045000	0.76585	2.376000	0.81061	0.650000	0.86243	CAA	PTBP1	-	tigrfam_HnRNP-L_PTB	ENSG00000011304		0.567	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	57	0.00	0	C			805560	805560	+1	no_errors	ENST00000356948	ensembl	human	known	69_37n	missense	94	42.42	70	SNP	1.000	G
PTCRA	171558	genome.wustl.edu	37	6	42890998	42890998	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:42890998G>A	ENST00000304672.1	+	2	373	c.292G>A	c.(292-294)Gag>Aag	p.E98K	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.E73K	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	98					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GCCTTCTGAGGAGCTGGCATC	0.622																																						dbGAP											0													110.0	88.0	96.0					6																	42890998		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.292G>A	6.37:g.42890998G>A	ENSP00000304447:p.Glu98Lys		Q5TFZ7	Missense_Mutation	SNP	NULL	p.E98K	ENST00000304672.1	37	c.292	CCDS4874.1	6	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017059	0.93404	.	.	ENSG00000171611	ENST00000304672;ENST00000441198	T;T	0.56103	0.48;0.48	5.84	4.97	0.65823	Immunoglobulin-like fold (1);	0.282834	0.25453	N	0.030567	T	0.33847	0.0877	L	0.36672	1.1	0.80722	D	1	P;P	0.47545	0.897;0.884	P;B	0.45558	0.485;0.218	T	0.34700	-0.9818	10	0.72032	D	0.01	-10.0057	10.7615	0.46268	0.0867:0.0:0.9133:0.0	.	73;98	Q6ISU1-3;Q6ISU1	.;PTCRA_HUMAN	K	98;73	ENSP00000304447:E98K;ENSP00000409550:E73K	ENSP00000304447:E98K	E	+	1	0	PTCRA	42998976	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.643000	0.54374	1.462000	0.47948	0.650000	0.86243	GAG	PTCRA	-	NULL	ENSG00000171611		0.622	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCRA	HGNC	protein_coding	OTTHUMT00000040565.2	107	0.00	0	G	NM_138296		42890998	42890998	+1	no_errors	ENST00000304672	ensembl	human	known	69_37n	missense	27	37.21	16	SNP	1.000	A
PTGER2	5732	genome.wustl.edu	37	14	52793938	52793938	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:52793938G>A	ENST00000245457.5	+	2	997		c.e2-1		PTGER2_ENST00000557436.1_Splice_Site	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCTTCTTACAGATTTTTGCAT	0.358																																						dbGAP											0													56.0	58.0	57.0					14																	52793938		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.844-1G>A	14.37:g.52793938G>A			D3DSC0|Q52LG8	Splice_Site	SNP	-	e2-1	ENST00000245457.5	37	c.844-1	CCDS9708.1	14	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954975	0.73902	.	.	ENSG00000125384	ENST00000557436;ENST00000245457	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6151	0.88065	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTGER2	51863688	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.663000	0.74431	2.835000	0.97688	0.650000	0.86243	.	PTGER2	-	-	ENSG00000125384		0.358	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER2	HGNC	protein_coding	OTTHUMT00000276890.1	53	0.00	0	G		Intron	52793938	52793938	+1	no_errors	ENST00000245457	ensembl	human	known	69_37n	splice_site	76	33.33	38	SNP	1.000	A
PTPRC	5788	genome.wustl.edu	37	1	198721855	198721855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:198721855G>T	ENST00000367376.2	+	31	3628	c.3457G>T	c.(3457-3459)Gaa>Taa	p.E1153*	PTPRC_ENST00000352140.3_Nonsense_Mutation_p.E1105*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.E992*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.E1155*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.E994*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1153	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAATTCCTCTGAAGGGAACAA	0.438																																						dbGAP											0													70.0	68.0	69.0					1																	198721855		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3457G>T	1.37:g.198721855G>T	ENSP00000356346:p.Glu1153*		A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E1155*	ENST00000367376.2	37	c.3463		1	.	.	.	.	.	.	.	.	.	.	G	37	6.209864	0.97380	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	.	.	.	6.02	6.02	0.97574	.	0.122893	0.36893	N	0.002350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.6932	0.88275	0.0:0.0:1.0:0.0	.	.	.	.	X	1155;1105;1153;992	.	ENSP00000306782:E992X	E	+	1	0	PTPRC	196988478	1.000000	0.71417	0.381000	0.26106	0.015000	0.08874	4.970000	0.63742	2.857000	0.98124	0.650000	0.86243	GAA	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000081237		0.438	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		43	0.00	0	G			198721855	198721855	+1	no_errors	ENST00000367376	ensembl	human	known	69_37n	nonsense	68	26.09	24	SNP	0.927	T
PTPRG	5793	genome.wustl.edu	37	3	62268432	62268432	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:62268432C>G	ENST00000474889.1	+	28	4320	c.3943C>G	c.(3943-3945)Cag>Gag	p.Q1315E	PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.Q1286E|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1315	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCGGCACTTTCAGTGTCCCAA	0.423																																						dbGAP											0													213.0	199.0	204.0					3																	62268432		2203	4300	6503	-	-	-	SO:0001583	missense	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3943C>G	3.37:g.62268432C>G	ENSP00000418112:p.Gln1315Glu		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.Q1315E	ENST00000474889.1	37	c.3943	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801953	0.70682	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.84660	-1.88;-1.88	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.119079	0.64402	D	0.000012	D	0.90848	0.7125	M	0.86805	2.84	0.80722	D	1	P;P;B	0.42556	0.454;0.783;0.242	B;P;B	0.47864	0.334;0.559;0.098	D	0.92071	0.5664	10	0.87932	D	0	.	19.3366	0.94322	0.0:1.0:0.0:0.0	.	561;1286;1315	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	E	1315;1286	ENSP00000418112:Q1315E;ENSP00000295874:Q1286E	ENSP00000295874:Q1286E	Q	+	1	0	PTPRG	62243472	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.616000	0.83018	2.799000	0.96334	0.650000	0.86243	CAG	PTPRG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000144724		0.423	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	69	0.00	0	C	NM_002841		62268432	62268432	+1	no_errors	ENST00000474889	ensembl	human	known	69_37n	missense	74	34.51	39	SNP	1.000	G
PTPRT	11122	genome.wustl.edu	37	20	41420063	41420063	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:41420063C>G	ENST00000373187.1	-	3	257	c.258G>C	c.(256-258)caG>caC	p.Q86H	PTPRT_ENST00000373201.1_Missense_Mutation_p.Q86H|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q86H|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q86H|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q86H|PTPRT_ENST00000373198.4_Missense_Mutation_p.Q86H|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q86H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	86	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTGGGCCTTCTGGCCAGAGG	0.532																																						dbGAP											0													34.0	38.0	36.0					20																	41420063		1908	4140	6048	-	-	-	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.258G>C	20.37:g.41420063C>G	ENSP00000362283:p.Gln86His		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.Q86H	ENST00000373187.1	37	c.258	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812306	0.70912	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42;4.42;4.42	5.54	4.4	0.53042	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	M	0.72353	2.195	0.54753	D	0.999981	D;D	0.76494	0.999;0.996	D;D	0.91635	0.999;0.999	T	0.00117	-1.2035	10	0.87932	D	0	.	13.0589	0.58996	0.0:0.8661:0.0:0.1339	.	86;86	O14522-1;O14522	.;PTPRT_HUMAN	H	86	ENSP00000362286:Q86H;ENSP00000362283:Q86H;ENSP00000362289:Q86H;ENSP00000348408:Q86H;ENSP00000362294:Q86H;ENSP00000362280:Q86H;ENSP00000362297:Q86H	ENSP00000348408:Q86H	Q	-	3	2	PTPRT	40853477	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.730000	0.47335	2.607000	0.88179	0.462000	0.41574	CAG	PTPRT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	ENSG00000196090		0.532	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	44	0.00	0	C			41420063	41420063	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	missense	25	43.18	19	SNP	1.000	G
PVRL2	5819	genome.wustl.edu	37	19	45377602	45377602	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:45377602C>A	ENST00000252483.5	+	5	909	c.909C>A	c.(907-909)ttC>ttA	p.F303L	PVRL2_ENST00000252485.4_Missense_Mutation_p.F303L	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	303	Ig-like C2-type 2.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CAGGCACCTTCCCGACCTCCG	0.612																																						dbGAP											0													105.0	98.0	100.0					19																	45377602		2203	4300	6503	-	-	-	SO:0001583	missense	0			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.909C>A	19.37:g.45377602C>A	ENSP00000252483:p.Phe303Leu		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F303L	ENST00000252483.5	37	c.909	CCDS42576.1	19	.	.	.	.	.	.	.	.	.	.	C	7.917	0.737851	0.15574	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.09911	3.08;2.93	4.9	1.51	0.23008	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.343848	0.25456	N	0.030543	T	0.02047	0.0064	N	0.00630	-1.315	0.30881	N	0.731385	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.42378	-0.9455	10	0.02654	T	1	.	4.8342	0.13456	0.1543:0.6122:0.1492:0.0843	.	303;303	Q92692;Q92692-2	PVRL2_HUMAN;.	L	303	ENSP00000252483:F303L;ENSP00000252485:F303L	ENSP00000252483:F303L	F	+	3	2	PVRL2	50069442	0.996000	0.38824	0.833000	0.33012	0.487000	0.33371	0.229000	0.17833	0.242000	0.21303	0.561000	0.74099	TTC	PVRL2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000130202		0.612	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	117	0.00	0	C	NM_002856		45377602	45377602	+1	no_errors	ENST00000252483	ensembl	human	known	69_37n	missense	28	50.88	29	SNP	0.991	A
PYHIN1	149628	genome.wustl.edu	37	1	158906839	158906839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:158906839C>T	ENST00000368140.1	+	2	384	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	PYHIN1_ENST00000368138.3_Nonsense_Mutation_p.Q47*|PYHIN1_ENST00000392254.2_Nonsense_Mutation_p.Q47*|PYHIN1_ENST00000368135.4_Nonsense_Mutation_p.Q47*|PYHIN1_ENST00000392252.3_Nonsense_Mutation_p.Q47*	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	47	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TGACAAAATTCAGATTGCTGA	0.353																																						dbGAP											0													74.0	76.0	75.0					1																	158906839		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.139C>T	1.37:g.158906839C>T	ENSP00000357122:p.Gln47*		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Nonsense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.Q47*	ENST00000368140.1	37	c.139	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658182	0.67586	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	.	.	.	2.83	-1.09	0.09904	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	4.1726	0.10336	0.383:0.4731:0.1439:0.0	.	.	.	.	X	47	.	ENSP00000357117:Q47X	Q	+	1	0	PYHIN1	157173463	0.000000	0.05858	0.013000	0.15412	0.334000	0.28698	-1.420000	0.02457	-0.089000	0.12484	-0.457000	0.05445	CAG	PYHIN1	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN	ENSG00000163564		0.353	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1	63	0.00	0	C	NM_152501		158906839	158906839	+1	no_errors	ENST00000368140	ensembl	human	known	69_37n	nonsense	88	29.60	37	SNP	0.006	T
PZP	5858	genome.wustl.edu	37	12	9354925	9354925	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:9354925C>G	ENST00000261336.2	-	4	498	c.470G>C	c.(469-471)cGa>cCa	p.R157P	PZP_ENST00000381997.2_Missense_Mutation_p.R26P	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	157					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAGTTCATTTCGAGGGCGAAA	0.433																																					Melanoma(125;1402 1695 4685 34487 38571)	dbGAP											0													89.0	77.0	81.0					12																	9354925		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.470G>C	12.37:g.9354925C>G	ENSP00000261336:p.Arg157Pro		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.R157P	ENST00000261336.2	37	c.470	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260535	0.23051	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.71103	-0.54;-0.54	2.44	-2.9	0.05648	Alpha-2-macroglobulin, N-terminal (1);	0.621973	0.12652	U	0.450358	T	0.42063	0.1186	N	0.04880	-0.145	0.09310	N	1	B;B	0.26483	0.15;0.019	B;B	0.26310	0.031;0.068	T	0.27054	-1.0085	10	0.66056	D	0.02	.	3.776	0.08660	0.2532:0.449:0.0:0.2979	.	26;157	P20742-2;P20742	.;PZP_HUMAN	P	157;26	ENSP00000261336:R157P;ENSP00000371427:R26P	ENSP00000261336:R157P	R	-	2	0	PZP	9246192	0.000000	0.05858	0.022000	0.16811	0.468000	0.32798	0.425000	0.21346	-0.704000	0.05042	-0.691000	0.03719	CGA	PZP	-	pfam_A2M_N	ENSG00000126838		0.433	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	42	0.00	0	C	NM_002864		9354925	9354925	-1	no_errors	ENST00000261336	ensembl	human	known	69_37n	missense	43	38.03	27	SNP	0.024	G
PYROXD1	79912	genome.wustl.edu	37	12	21615684	21615684	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:21615684G>C	ENST00000240651.9	+	10	1058	c.1004G>C	c.(1003-1005)gGa>gCa	p.G335A	PYROXD1_ENST00000538582.1_Missense_Mutation_p.G264A	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	335							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TTTGATCTAGGAGAAGATGGT	0.383																																						dbGAP											0													146.0	133.0	137.0					12																	21615684		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.1004G>C	12.37:g.21615684G>C	ENSP00000240651:p.Gly335Ala		A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase	p.G335A	ENST00000240651.9	37	c.1004	CCDS31755.1	12	.	.	.	.	.	.	.	.	.	.	G	8.581	0.882425	0.17467	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	T;T	0.45668	0.89;0.89	4.72	3.83	0.44106	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.179062	0.47455	D	0.000222	T	0.28699	0.0711	N	0.20357	0.565	0.80722	D	1	B	0.12013	0.005	B	0.26517	0.07	T	0.05053	-1.0909	9	.	.	.	.	12.7789	0.57466	0.0:0.1643:0.8357:0.0	.	335	Q8WU10	PYRD1_HUMAN	A	41;335;264	ENSP00000240651:G335A;ENSP00000438505:G264A	.	G	+	2	0	PYROXD1	21506951	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	2.233000	0.43027	1.113000	0.41760	0.655000	0.94253	GGA	PYROXD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000121350		0.383	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD1	HGNC	protein_coding	OTTHUMT00000402363.1	62	0.00	0	G	NM_024854		21615684	21615684	+1	no_errors	ENST00000240651	ensembl	human	known	69_37n	missense	73	35.96	41	SNP	1.000	C
QRICH2	84074	genome.wustl.edu	37	17	74271964	74271964	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:74271964G>C	ENST00000262765.5	-	18	5099	c.4920C>G	c.(4918-4920)ctC>ctG	p.L1640L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1640										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CATTGCTGCTGAGGGATGGCG	0.667																																						dbGAP											0													85.0	70.0	75.0					17																	74271964		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4920C>G	17.37:g.74271964G>C			A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.Q415E	ENST00000262765.5	37	c.1243	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325102	0.24080	.	.	ENSG00000129646	ENST00000447564;ENST00000532549	T	0.52295	0.67	3.88	-7.75	0.01236	.	.	.	.	.	T	0.14570	0.0352	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22138	-1.0225	6	0.06625	T	0.88	-4.1049	2.6398	0.04968	0.1597:0.3991:0.2634:0.1778	.	.	.	.	E	415;239	ENSP00000394461:Q415E	ENSP00000394461:Q415E	Q	-	1	0	QRICH2	71783559	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.919000	0.04017	-1.672000	0.01464	0.561000	0.74099	CAG	QRICH2	-	NULL	ENSG00000129646		0.667	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	33	0.00	0	G	NM_032134		74271964	74271964	-1	no_start_codon	ENST00000447564	ensembl	human	putative	69_37n	missense	32	15.79	6	SNP	0.000	C
QSER1	79832	genome.wustl.edu	37	11	32953474	32953474	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:32953474C>G	ENST00000399302.2	+	4	618	c.283C>G	c.(283-285)Cat>Gat	p.H95D	QSER1_ENST00000527788.1_Missense_Mutation_p.H95D|QSER1_ENST00000527250.1_3'UTR	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	95										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AATTTTAAGTCATCATGACCC	0.428																																						dbGAP											0													150.0	144.0	146.0					11																	32953474		1902	4133	6035	-	-	-	SO:0001583	missense	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.283C>G	11.37:g.32953474C>G	ENSP00000382241:p.His95Asp		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.H95D	ENST00000399302.2	37	c.283	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	C	0.146	-1.097020	0.01843	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.41065	1.01;1.01	5.6	0.581	0.17407	.	0.394885	0.23702	N	0.045408	T	0.15435	0.0372	N	0.08118	0	0.22292	N	0.999222	B;B	0.19817	0.039;0.023	B;B	0.15870	0.014;0.004	T	0.16100	-1.0414	10	0.12103	T	0.63	.	3.3482	0.07142	0.1042:0.4853:0.1021:0.3084	.	95;95	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	D	95	ENSP00000382241:H95D;ENSP00000432766:H95D	ENSP00000078652:H95D	H	+	1	0	QSER1	32910050	0.438000	0.25602	0.953000	0.39169	0.888000	0.51559	0.386000	0.20702	0.344000	0.23847	-0.136000	0.14681	CAT	QSER1	-	NULL	ENSG00000060749		0.428	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	157	0.00	0	C	NM_024774		32953474	32953474	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	missense	94	38.16	58	SNP	0.757	G
RAB11FIP1	80223	genome.wustl.edu	37	8	37730279	37730279	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:37730279C>G	ENST00000330843.4	-	4	2053	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	681					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTGTTCTTCTCTGTGCCTGTC	0.512																																						dbGAP											0													99.0	98.0	98.0					8																	37730279		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2041G>C	8.37:g.37730279C>G	ENSP00000331342:p.Glu681Gln		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E681Q	ENST00000330843.4	37	c.2041	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795407	0.31777	.	.	ENSG00000156675	ENST00000330843	T	0.14391	2.51	4.71	3.82	0.43975	.	1.125910	0.06813	N	0.790753	T	0.16171	0.0389	N	0.19112	0.55	0.20403	N	0.9999	D;P	0.58268	0.982;0.718	P;B	0.54924	0.764;0.145	T	0.22591	-1.0212	10	0.15499	T	0.54	-6.0594	9.2972	0.37822	0.0:0.8963:0.0:0.1037	.	10;681	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	Q	681	ENSP00000331342:E681Q	ENSP00000331342:E681Q	E	-	1	0	RAB11FIP1	37849437	0.001000	0.12720	0.011000	0.14972	0.019000	0.09904	0.225000	0.17757	0.937000	0.37394	0.655000	0.94253	GAG	RAB11FIP1	-	NULL	ENSG00000156675		0.512	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	94	0.00	0	C	NM_025151		37730279	37730279	-1	no_errors	ENST00000330843	ensembl	human	known	69_37n	missense	53	33.75	27	SNP	0.026	G
RAB21	23011	genome.wustl.edu	37	12	72164419	72164419	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:72164419C>T	ENST00000261263.3	+	3	523	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	89					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)	6						CAATTTACTACAGAGATTCAA	0.348																																						dbGAP											0													103.0	102.0	102.0					12																	72164419		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"""RAB, member RAS oncogene"""	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.267C>T	12.37:g.72164419C>T			Q14466|Q569H3	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Y89	ENST00000261263.3	37	c.267	CCDS9003.1	12																																																																																			RAB21	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000080371		0.348	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB21	HGNC	protein_coding	OTTHUMT00000404855.1	74	0.00	0	C			72164419	72164419	+1	no_errors	ENST00000261263	ensembl	human	known	69_37n	silent	64	34.69	34	SNP	1.000	T
RAB6A	5870	genome.wustl.edu	37	11	73427362	73427362	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:73427362C>G	ENST00000336083.3	-	5	790	c.335G>C	c.(334-336)aGa>aCa	p.R112T	RAB6A_ENST00000541588.1_Intron|RAB6A_ENST00000310653.6_Missense_Mutation_p.R112T|RAB6A_ENST00000536566.1_Missense_Mutation_p.R79T	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	112					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						TCTTTCTGTTCTGACATCATC	0.378																																						dbGAP											0													171.0	147.0	155.0					11																	73427362		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"""RAB, member RAS oncogene"""	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.335G>C	11.37:g.73427362C>G	ENSP00000336850:p.Arg112Thr		A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R112T	ENST00000336083.3	37	c.335	CCDS8224.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.67|13.67	2.306631|2.306631	0.40795|0.40795	.|.	.|.	ENSG00000175582|ENSG00000175582	ENST00000541973;ENST00000400470|ENST00000310653;ENST00000336083;ENST00000393571;ENST00000536566;ENST00000539750	.|T;T;T	.|0.80214	.|-1.35;-1.35;-1.35	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Small GTP-binding protein domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83027|0.83027	0.5165|0.5165	N|N	0.16743|0.16743	0.435|0.435	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.70716	.|0.97;0.935	D|D	0.85659|0.85659	0.1287|0.1287	5|10	.|0.87932	.|D	.|0	-5.0634|-5.0634	18.9443|18.9443	0.92616|0.92616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|112;112	.|P20340;P20340-2	.|RAB6A_HUMAN;.	Q|T	105;104|112;112;112;79;112	.|ENSP00000311449:R112T;ENSP00000336850:R112T;ENSP00000437863:R79T	.|ENSP00000311449:R112T	E|R	-|-	1|2	0|0	RAB6A|RAB6A	73105010|73105010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.725000|2.725000	0.93324|0.93324	0.591000|0.591000	0.81541|0.81541	GAA|AGA	RAB6A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000175582		0.378	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAB6A	HGNC	protein_coding	OTTHUMT00000259241.2	84	0.00	0	C			73427362	73427362	-1	no_errors	ENST00000310653	ensembl	human	known	69_37n	missense	127	32.80	62	SNP	1.000	G
RAB6A	5870	genome.wustl.edu	37	11	73429838	73429838	+	Intron	SNP	T	T	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:73429838T>G	ENST00000336083.3	-	4	639				RAB6A_ENST00000541588.1_Intron|RAB6A_ENST00000310653.6_Missense_Mutation_p.D94A|RAB6A_ENST00000536566.1_Missense_Mutation_p.D61A	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family						antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						ACTTGTGATATCGTAAACTAC	0.443																																						dbGAP											0													130.0	124.0	126.0					11																	73429838		2200	4293	6493	-	-	-	SO:0001627	intron_variant	0			AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"""RAB, member RAS oncogene"""	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.184-75A>C	11.37:g.73429838T>G			A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D94A	ENST00000336083.3	37	c.281	CCDS8224.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.1|22.1	4.249688|4.249688	0.80024|0.80024	.|.	.|.	ENSG00000175582|ENSG00000175582	ENST00000310653;ENST00000393571;ENST00000536566;ENST00000539750|ENST00000541973	D;D|.	0.86865|.	-2.18;-2.18|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73830|0.73830	0.3637|0.3637	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.999996|0.999996	P|.	0.44690|.	0.841|.	P|.	0.57846|.	0.828|.	T|T	0.73636|0.73636	-0.3920|-0.3920	10|5	0.66056|.	D|.	0.02|.	-3.7456|-3.7456	15.5278|15.5278	0.75925|0.75925	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	94|.	P20340-2|.	.|.	A|L	94;94;61;94|87	ENSP00000311449:D94A;ENSP00000437863:D61A|.	ENSP00000311449:D94A|.	D|I	-|-	2|1	0|0	RAB6A|RAB6A	73107486|73107486	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.628000|7.628000	0.83189|0.83189	2.320000|2.320000	0.78422|0.78422	0.528000|0.528000	0.53228|0.53228	GAT|ATA	RAB6A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000175582		0.443	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAB6A	HGNC	protein_coding	OTTHUMT00000259241.2	57	0.00	0	T			73429838	73429838	-1	no_errors	ENST00000310653	ensembl	human	known	69_37n	missense	54	43.16	41	SNP	1.000	G
RALGAPA1	253959	genome.wustl.edu	37	14	36155786	36155786	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:36155786C>T	ENST00000389698.3	-	18	2911	c.2521G>A	c.(2521-2523)Gag>Aag	p.E841K	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E854K|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.E888K|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E841K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	841					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTATAAACTCATCCATCAGA	0.353																																						dbGAP											0													49.0	45.0	47.0					14																	36155786		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2521G>A	14.37:g.36155786C>T	ENSP00000374348:p.Glu841Lys		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E888K	ENST00000389698.3	37	c.2662	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230437	0.79688	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.94537	-3.41;-3.42;-3.45;-3.42;-3.45	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.94631	0.8269	L	0.32530	0.975	0.58432	D	0.999993	D;P;D;P;P	0.57899	0.971;0.9;0.981;0.925;0.704	P;B;P;P;B	0.56648	0.641;0.334;0.803;0.453;0.077	D	0.92983	0.6408	10	0.32370	T	0.25	-13.2129	20.6525	0.99598	0.0:1.0:0.0:0.0	.	888;854;888;841;841	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	K	841;841;841;888;854;888	ENSP00000374348:E841K;ENSP00000302647:E841K;ENSP00000258840:E888K;ENSP00000371803:E854K;ENSP00000451877:E888K	ENSP00000258840:E888K	E	-	1	0	RALGAPA1	35225537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.890000	0.99128	0.585000	0.79938	GAG	RALGAPA1	-	NULL	ENSG00000174373		0.353	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	42	0.00	0	C	XM_210022		36155786	36155786	-1	no_errors	ENST00000258840	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	1.000	T
RALGAPA2	57186	genome.wustl.edu	37	20	20585864	20585864	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:20585864G>A	ENST00000202677.7	-	15	2000	c.1993C>T	c.(1993-1995)Ctg>Ttg	p.L665L	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	665					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AATTTATCCAGAGGTAGGTTT	0.448																																						dbGAP											0													85.0	79.0	81.0					20																	20585864		1883	4118	6001	-	-	-	SO:0001819	synonymous_variant	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1993C>T	20.37:g.20585864G>A			Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.L665	ENST00000202677.7	37	c.1993	CCDS46584.1	20																																																																																			RALGAPA2	-	NULL	ENSG00000188559		0.448	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	135	0.00	0	G	NM_020343		20585864	20585864	-1	no_errors	ENST00000202677	ensembl	human	known	69_37n	silent	52	36.59	30	SNP	1.000	A
RARB	5915	genome.wustl.edu	37	3	25635067	25635067	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:25635067G>A	ENST00000404969.1	+	6	881	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	RARB_ENST00000330688.4_Missense_Mutation_p.R287Q|RARB_ENST00000462272.1_Intron|RARB_ENST00000437042.2_Missense_Mutation_p.R175Q|RARB_ENST00000458646.1_Missense_Mutation_p.R175Q			P10826	RARB_HUMAN	retinoic acid receptor, beta	294	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACCCTAAATCGAACTCAGATG	0.453																																						dbGAP											0													200.0	178.0	185.0					3																	25635067		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.881G>A	3.37:g.25635067G>A	ENSP00000385865:p.Arg294Gln		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.R294Q	ENST00000404969.1	37	c.881		3	.	.	.	.	.	.	.	.	.	.	G	37	6.196191	0.97367	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02	5.95	5.95	0.96441	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	M	0.76170	2.325	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.59546	0.859;0.859	D	0.97936	1.0323	10	0.87932	D	0	.	20.3712	0.98891	0.0:0.0:1.0:0.0	.	294;287	P10826;F1D8S6	RARB_HUMAN;.	Q	294;294;294;175;287;175	ENSP00000373282:R294Q;ENSP00000385865:R294Q;ENSP00000398840:R175Q;ENSP00000332296:R287Q;ENSP00000391391:R175Q	ENSP00000332296:R287Q	R	+	2	0	RARB	25610071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.843000	0.99491	2.822000	0.97130	0.655000	0.94253	CGA	RARB	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	ENSG00000077092		0.453	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		129	0.00	0	G	NM_000965, NM_016152		25635067	25635067	+1	no_errors	ENST00000404969	ensembl	human	known	69_37n	missense	90	41.56	64	SNP	1.000	A
RB1	5925	genome.wustl.edu	37	13	49037902	49037902	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr13:49037902G>C	ENST00000267163.4	+	21	2280	c.2142G>C	c.(2140-2142)gtG>gtC	p.V714V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	714	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.I703_E737del(2)|p.C712_A727del(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TATGCAAAGTGAAGAATATAG	0.294		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	28	Whole gene deletion(15)|Unknown(10)|Deletion - In frame(3)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|ovary(1)|prostate(1)|liver(1)											108.0	114.0	112.0					13																	49037902		2203	4293	6496	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2142G>C	13.37:g.49037902G>C			A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.V714	ENST00000267163.4	37	c.2142	CCDS31973.1	13																																																																																			RB1	-	pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000139687		0.294	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	53	0.00	0	G			49037902	49037902	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	silent	23	43.90	18	SNP	1.000	C
RBM15	64783	genome.wustl.edu	37	1	110884273	110884273	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:110884273C>G	ENST00000369784.3	+	1	3146	c.2246C>G	c.(2245-2247)tCt>tGt	p.S749C	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Missense_Mutation_p.S749C|RBM15_ENST00000602849.1_Missense_Mutation_p.S749C	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	749					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAAGACCGCTCTGATGGGAGT	0.562			T	MKL1	acute megakaryocytic leukemia																																	dbGAP		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													74.0	76.0	75.0					1																	110884273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2246C>G	1.37:g.110884273C>G	ENSP00000358799:p.Ser749Cys		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S749C	ENST00000369784.3	37	c.2246	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085983	0.36758	.	.	ENSG00000162775	ENST00000369784	T	0.21031	2.03	4.95	4.95	0.65309	.	0.528842	0.15947	N	0.236917	T	0.12390	0.0301	N	0.19112	0.55	0.41417	D	0.987775	B;B	0.33379	0.138;0.41	B;B	0.40329	0.326;0.122	T	0.16012	-1.0417	10	0.56958	D	0.05	-1.0E-4	18.1143	0.89546	0.0:1.0:0.0:0.0	.	749;749	Q96T37-3;Q96T37	.;RBM15_HUMAN	C	749	ENSP00000358799:S749C	ENSP00000358799:S749C	S	+	2	0	RBM15	110685796	0.591000	0.26824	0.977000	0.42913	0.926000	0.56050	4.127000	0.57944	2.461000	0.83175	0.655000	0.94253	TCT	RBM15	-	NULL	ENSG00000162775		0.562	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	24	0.00	0	C	NM_022768		110884273	110884273	+1	no_errors	ENST00000369784	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	0.995	G
RBM8A	9939	genome.wustl.edu	37	1	145508024	145508024	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:145508024C>T	ENST00000330165.8	+	2	145	c.76C>T	c.(76-78)Cac>Tac	p.H26Y	RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.H26Y|RP11-315I20.1_ENST00000598354.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	26					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAGAGCATTCACAAACTGAA	0.483											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													57.0	61.0	60.0					1																	145508024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.76C>T	1.37:g.145508024C>T	ENSP00000333001:p.His26Tyr	1695	B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom,prints_RNA-bd_8	p.H26Y	ENST00000330165.8	37	c.76	CCDS916.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555804	0.86231	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.14144	2.53;2.53	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	L	0.34521	1.04	0.80722	D	1	D;P	0.53312	0.959;0.931	P;B	0.47915	0.561;0.358	T	0.04065	-1.0980	10	0.51188	T	0.08	-3.115	15.4244	0.75041	0.0:1.0:0.0:0.0	.	26;26	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	Y	26	ENSP00000333001:H26Y;ENSP00000358313:H26Y	ENSP00000333001:H26Y	H	+	1	0	RBM8A	144219381	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.921000	0.70028	2.592000	0.87571	0.555000	0.69702	CAC	RBM8A	-	NULL	ENSG00000131795		0.483	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM8A	HGNC	protein_coding	OTTHUMT00000038503.2	56	0.00	0	C	NM_005105		145508024	145508024	+1	no_errors	ENST00000330165	ensembl	human	known	69_37n	missense	41	47.44	37	SNP	1.000	T
REG1B	5968	genome.wustl.edu	37	2	79314715	79314715	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:79314715G>A	ENST00000305089.3	-	2	104	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	8					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGATCAGCATGAAGAACGAGT	0.493																																						dbGAP											0													148.0	123.0	131.0					2																	79314715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.24C>T	2.37:g.79314715G>A				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_Pancreatis_ac,pfscan_C-type_lectin	p.F8	ENST00000305089.3	37	c.24	CCDS1963.1	2																																																																																			REG1B	-	NULL	ENSG00000172023		0.493	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1B	HGNC	protein_coding	OTTHUMT00000252292.2	73	0.00	0	G	NM_006507		79314715	79314715	-1	no_errors	ENST00000305089	ensembl	human	known	69_37n	silent	65	32.29	31	SNP	0.001	A
RELN	5649	genome.wustl.edu	37	7	103205791	103205791	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:103205791G>C	ENST00000428762.1	-	34	5303	c.5144C>G	c.(5143-5145)tCa>tGa	p.S1715*	RELN_ENST00000343529.5_Nonsense_Mutation_p.S1715*|RELN_ENST00000424685.2_Nonsense_Mutation_p.S1715*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1715					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGTAAATTGAACTTTCCGT	0.458																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													138.0	120.0	126.0					7																	103205791		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5144C>G	7.37:g.103205791G>C	ENSP00000392423:p.Ser1715*		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.S1715*	ENST00000428762.1	37	c.5144	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	47	13.690849	0.99757	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	X	1715	.	ENSP00000345694:S1715X	S	-	2	0	RELN	102993027	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	9.139000	0.94554	2.865000	0.98341	0.655000	0.94253	TCA	RELN	-	superfamily_Neuraminidase	ENSG00000189056		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	48	0.00	0	G	NM_005045		103205791	103205791	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	nonsense	44	42.86	33	SNP	1.000	C
REST	5978	genome.wustl.edu	37	4	57796138	57796138	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:57796138G>C	ENST00000309042.7	+	4	1428	c.1114G>C	c.(1114-1116)Gat>Cat	p.D372H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	372					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAAAACAGCAGATAGAAGCAA	0.428																																						dbGAP											0													135.0	122.0	126.0					4																	57796138		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1114G>C	4.37:g.57796138G>C	ENSP00000311816:p.Asp372His		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D372H	ENST00000309042.7	37	c.1114	CCDS3509.1	4	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373114	0.82573	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.01548	4.78	6.02	6.02	0.97574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000002	T	0.05181	0.0138	N	0.13043	0.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62001	-0.6946	10	0.41790	T	0.15	-26.7152	20.1358	0.98028	0.0:0.0:1.0:0.0	.	349;372	F8WAN5;Q13127	.;REST_HUMAN	H	372;372;349	ENSP00000311816:D372H	ENSP00000311816:D372H	D	+	1	0	REST	57490895	1.000000	0.71417	0.983000	0.44433	0.455000	0.32408	9.434000	0.97515	2.865000	0.98341	0.655000	0.94253	GAT	REST	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000084093		0.428	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REST	HGNC	protein_coding	OTTHUMT00000250691.2	47	0.00	0	G	NM_005612		57796138	57796138	+1	no_errors	ENST00000309042	ensembl	human	known	69_37n	missense	34	49.30	35	SNP	1.000	C
RET	5979	genome.wustl.edu	37	10	43609119	43609119	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:43609119C>G	ENST00000355710.3	+	10	2107	c.1875C>G	c.(1873-1875)atC>atG	p.I625M	RET_ENST00000340058.5_Missense_Mutation_p.I625M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	625					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCGAAGACATCCAGGGTGAGT	0.627		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	dbGAP	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0													34.0	35.0	35.0					10																	43609119		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1875C>G	10.37:g.43609119C>G	ENSP00000347942:p.Ile625Met		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin	p.I625M	ENST00000355710.3	37	c.1875	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192332	0.38707	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98419	-1.13;-4.92;-1.25	4.92	3.05	0.35203	.	0.794106	0.12559	N	0.458301	D	0.96402	0.8826	L	0.36672	1.1	0.27142	N	0.961623	B;P;P	0.44195	0.391;0.736;0.828	B;B;P	0.46940	0.17;0.235;0.532	D	0.91514	0.5229	10	0.45353	T	0.12	.	9.1444	0.36923	0.0:0.7708:0.1474:0.0818	.	371;625;625	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	M	625;142;625	ENSP00000347942:I625M;ENSP00000419080:I142M;ENSP00000344798:I625M	ENSP00000344798:I625M	I	+	3	3	RET	42929125	0.944000	0.32072	0.996000	0.52242	0.862000	0.49288	0.665000	0.25083	0.488000	0.27723	-0.300000	0.09419	ATC	RET	-	pirsf_Tyr_kinase_Ret_rcpt	ENSG00000165731		0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	20	0.00	0	C	NM_020975		43609119	43609119	+1	no_errors	ENST00000355710	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.967	G
RGPD2	729857	genome.wustl.edu	37	2	88118137	88118137	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:88118137C>G	ENST00000398146.3	-	2	300	c.78G>C	c.(76-78)ttG>ttC	p.L26F	RGPD2_ENST00000327544.6_5'UTR|RGPD2_ENST00000420840.2_Missense_Mutation_p.L18F			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	26					protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						AGAATCCTCTCAACTTCTAAA	0.249																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.78G>C	2.37:g.88118137C>G	ENSP00000381214:p.Leu26Phe		P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L26F	ENST00000398146.3	37	c.78	CCDS42710.2	2	.	.	.	.	.	.	.	.	.	.	.	3.445	-0.113247	0.06881	.	.	ENSG00000185304	ENST00000398146;ENST00000420840	T;T	0.50813	0.73;0.73	2.61	2.61	0.31194	.	.	.	.	.	T	0.41259	0.1151	L	0.49126	1.545	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47142	-0.9140	9	0.72032	D	0.01	-1.3438	10.9951	0.47571	0.0:1.0:0.0:0.0	.	26	B4DYH0	.	F	26;18	ENSP00000381214:L26F;ENSP00000413275:L18F	ENSP00000381214:L26F	L	-	3	2	RGPD2	87899252	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	2.154000	0.42291	1.464000	0.47987	0.184000	0.17185	TTG	RGPD2	-	pfscan_TPR-contain_dom	ENSG00000185304		0.249	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	HGNC	protein_coding	OTTHUMT00000330534.2	20	0.00	0	C	NM_001078170		88118137	88118137	-1	no_errors	ENST00000398146	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	1.000	G
RHBDF2	79651	genome.wustl.edu	37	17	74471187	74471187	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:74471187G>C	ENST00000313080.4	-	10	1512	c.1239C>G	c.(1237-1239)gtC>gtG	p.V413V	RHBDF2_ENST00000389760.4_Silent_p.V384V|RHBDF2_ENST00000591885.1_Silent_p.V384V	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	413					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCGTGATGATGACATGGACGA	0.617																																						dbGAP											0													93.0	66.0	75.0					17																	74471187		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1239C>G	17.37:g.74471187G>C			A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.V413	ENST00000313080.4	37	c.1239	CCDS32743.1	17																																																																																			RHBDF2	-	NULL	ENSG00000129667		0.617	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	49	0.00	0	G	NM_024599		74471187	74471187	-1	no_errors	ENST00000313080	ensembl	human	known	69_37n	silent	68	15.00	12	SNP	0.912	C
RHBDF2	79651	genome.wustl.edu	37	17	74473347	74473347	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:74473347C>G	ENST00000313080.4	-	8	1195	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	RHBDF2_ENST00000389760.4_Missense_Mutation_p.E279Q|RHBDF2_ENST00000591885.1_Missense_Mutation_p.E279Q|RHBDF2_ENST00000592378.1_5'Flank	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	308					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GGGGGGGACTCAAAGACATCA	0.577																																						dbGAP											0													31.0	37.0	35.0					17																	74473347		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.922G>C	17.37:g.74473347C>G	ENSP00000322775:p.Glu308Gln		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.E308Q	ENST00000313080.4	37	c.922	CCDS32743.1	17	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744193	0.89663	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.70631	-0.5;-0.5	5.54	5.54	0.83059	.	0.164918	0.52532	D	0.000075	T	0.81828	0.4905	L	0.54323	1.7	0.49798	D	0.999824	D;D;D;D	0.76494	0.999;0.999;0.998;0.997	D;D;D;D	0.75484	0.972;0.986;0.982;0.97	T	0.80209	-0.1477	10	0.41790	T	0.15	-38.7369	19.4819	0.95013	0.0:1.0:0.0:0.0	.	279;254;308;279	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	Q	308;279;254	ENSP00000322775:E308Q;ENSP00000374410:E279Q	ENSP00000322775:E308Q	E	-	1	0	RHBDF2	71984942	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.271000	0.78506	2.595000	0.87683	0.655000	0.94253	GAG	RHBDF2	-	pfam_Rhomboid_SP	ENSG00000129667		0.577	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	14	0.00	0	C	NM_024599		74473347	74473347	-1	no_errors	ENST00000313080	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	1.000	G
RHOA	387	genome.wustl.edu	37	3	49399964	49399964	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:49399964C>G	ENST00000418115.1	-	4	757	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	RHOA_ENST00000454011.2_Missense_Mutation_p.M84I|RHOA_ENST00000422781.1_Missense_Mutation_p.E125Q|RHOA-IT1_ENST00000428083.1_RNA	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	125					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTTGTGTGCTCATCATTCCGA	0.498																																						dbGAP											0													147.0	132.0	137.0					3																	49399964		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.373G>C	3.37:g.49399964C>G	ENSP00000400175:p.Glu125Gln		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E125Q	ENST00000418115.1	37	c.373	CCDS2795.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.59|19.59	3.855887|3.855887	0.71834|0.71834	.|.	.|.	ENSG00000067560|ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425|ENST00000454011	T;T;T|T	0.76968|0.21543	-0.47;-1.06;-1.06|2.0	6.07|6.07	6.07|6.07	0.98685|0.98685	Small GTP-binding protein domain (1);|.	0.441395|.	0.24485|.	N|.	0.038112|.	T|T	0.22975|0.22975	0.0555|0.0555	N|N	0.11201|0.11201	0.11|0.11	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.10450|.	0.005|.	T|T	0.06899|0.06899	-1.0801|-1.0801	10|7	0.38643|0.87932	T|D	0.18|0	.|.	19.222|19.222	0.93801|0.93801	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	125|.	P61586|.	RHOA_HUMAN|.	Q|I	125|84	ENSP00000400175:E125Q;ENSP00000413587:E125Q;ENSP00000408402:E125Q|ENSP00000394483:M84I	ENSP00000400175:E125Q|ENSP00000394483:M84I	E|M	-|-	1|3	0|0	RHOA|RHOA	49374968|49374968	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.792000|7.792000	0.85828|0.85828	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAG|ATG	RHOA	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000067560		0.498	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	53	0.00	0	C	NM_001664		49399964	49399964	-1	no_errors	ENST00000418115	ensembl	human	known	69_37n	missense	34	54.67	41	SNP	1.000	G
RICTOR	253260	genome.wustl.edu	37	5	38957828	38957828	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:38957828G>A	ENST00000357387.3	-	25	2455	c.2425C>T	c.(2425-2427)Ctc>Ttc	p.L809F	RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Missense_Mutation_p.L809F	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GGAATGGAGAGAAATCTGCAA	0.303																																						dbGAP											0													78.0	83.0	81.0					5																	38957828		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2425C>T	5.37:g.38957828G>A	ENSP00000349959:p.Leu809Phe			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L809F	ENST00000357387.3	37	c.2425	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967547	0.74131	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.56103	0.48;0.48	5.43	5.43	0.79202	Armadillo-type fold (1);	0.062472	0.64402	D	0.000003	T	0.65893	0.2735	M	0.76727	2.345	0.54753	D	0.999985	B;D	0.57257	0.222;0.979	B;P	0.54270	0.255;0.747	T	0.70189	-0.4940	10	0.87932	D	0	-8.5533	14.4324	0.67259	0.0:0.0:0.8525:0.1475	.	809;809	Q6R327;Q6R327-3	RICTR_HUMAN;.	F	809	ENSP00000349959:L809F;ENSP00000296782:L809F	ENSP00000296782:L809F	L	-	1	0	RICTOR	38993585	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.138000	0.64795	2.696000	0.92011	0.591000	0.81541	CTC	RICTOR	-	superfamily_ARM-type_fold	ENSG00000164327		0.303	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	50	0.00	0	G	NM_152756		38957828	38957828	-1	no_errors	ENST00000296782	ensembl	human	known	69_37n	missense	81	36.72	47	SNP	1.000	A
RIF1	55183	genome.wustl.edu	37	2	152326313	152326313	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:152326313C>T	ENST00000243326.5	+	33	7513	c.7030C>T	c.(7030-7032)Ctt>Ttt	p.L2344F	RIF1_ENST00000430328.2_Missense_Mutation_p.L2318F|RIF1_ENST00000453091.2_Missense_Mutation_p.L2318F|RIF1_ENST00000444746.2_Missense_Mutation_p.L2344F|RIF1_ENST00000428287.2_Missense_Mutation_p.L2318F			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATAAAAACTCTTCCTATCCG	0.343																																						dbGAP											0													74.0	77.0	76.0					2																	152326313		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.7030C>T	2.37:g.152326313C>T	ENSP00000243326:p.Leu2344Phe		A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.L2344F	ENST00000243326.5	37	c.7030	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911243	0.92178	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.25414	1.89;1.8;1.8;1.89;1.8	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	M	0.66939	2.045	0.80722	D	1	D;D	0.61080	0.989;0.986	D;P	0.69824	0.966;0.907	T	0.51490	-0.8699	10	0.87932	D	0	-14.5264	19.1972	0.93695	0.0:1.0:0.0:0.0	.	2344;2318	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	F	2344;2318;2318;2344;2318	ENSP00000390181:L2344F;ENSP00000414615:L2318F;ENSP00000415691:L2318F;ENSP00000243326:L2344F;ENSP00000416123:L2318F	ENSP00000243326:L2344F	L	+	1	0	RIF1	152034559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.252000	0.78309	2.706000	0.92434	0.555000	0.69702	CTT	RIF1	-	NULL	ENSG00000080345		0.343	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	53	0.00	0	C			152326313	152326313	+1	no_errors	ENST00000243326	ensembl	human	known	69_37n	missense	60	40.00	40	SNP	1.000	T
RIMS1	22999	genome.wustl.edu	37	6	72957721	72957721	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:72957721C>T	ENST00000521978.1	+	12	2132	c.2132C>T	c.(2131-2133)tCa>tTa	p.S711L	RIMS1_ENST00000401910.3_Missense_Mutation_p.S185L|RIMS1_ENST00000522291.1_Missense_Mutation_p.S711L|RIMS1_ENST00000523963.1_Missense_Mutation_p.S185L|RIMS1_ENST00000425662.2_Missense_Mutation_p.S104L|RIMS1_ENST00000520567.1_Missense_Mutation_p.S711L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S711L|RIMS1_ENST00000517827.1_Missense_Mutation_p.S170L|RIMS1_ENST00000517960.1_Missense_Mutation_p.S711L|RIMS1_ENST00000518273.1_Missense_Mutation_p.S711L|RIMS1_ENST00000348717.5_Missense_Mutation_p.S711L|RIMS1_ENST00000264839.7_Missense_Mutation_p.S711L	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	711					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.S711L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATTTTAGGTTCAAGTTCCTTT	0.318																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											97.0	90.0	93.0					6																	72957721		1792	4065	5857	-	-	-	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2132C>T	6.37:g.72957721C>T	ENSP00000428417:p.Ser711Leu		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	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.S711L	ENST00000521978.1	37	c.2132	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.269583	0.95429	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827	T;T;T;T;T;T;T;T;T;T;T;T;T	0.18657	2.2;2.37;2.28;2.37;2.34;2.33;2.36;2.25;2.37;2.33;2.37;2.3;2.38	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000034	T	0.30448	0.0765	L	0.34521	1.04	0.80722	D	1	B;D;P;P;D;P;P	0.61080	0.243;0.981;0.883;0.881;0.989;0.93;0.786	B;D;P;B;P;P;B	0.69824	0.074;0.966;0.698;0.345;0.844;0.713;0.22	T	0.04017	-1.0984	10	0.87932	D	0	-13.4058	20.1615	0.98135	0.0:1.0:0.0:0.0	.	170;185;711;170;185;711;711	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5	.;.;.;.;.;.;RIMS1_HUMAN	L	711;711;711;711;711;711;711;711;711;711;711;711;185;185;104;104;170	ENSP00000430101:S711L;ENSP00000275037:S711L;ENSP00000264839:S711L;ENSP00000429959:S711L;ENSP00000430408:S711L;ENSP00000430502:S711L;ENSP00000430932:S711L;ENSP00000428417:S711L;ENSP00000385649:S185L;ENSP00000428328:S185L;ENSP00000411235:S104L;ENSP00000389503:S104L;ENSP00000428367:S170L	ENSP00000264839:S711L	S	+	2	0	RIMS1	73014442	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.835000	0.97688	0.650000	0.86243	TCA	RIMS1	-	NULL	ENSG00000079841		0.318	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	49	0.00	0	C			72957721	72957721	+1	no_errors	ENST00000521978	ensembl	human	known	69_37n	missense	60	31.82	28	SNP	1.000	T
RNF126	55658	genome.wustl.edu	37	19	648960	648960	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:648960C>G	ENST00000292363.5	-	7	747	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTGTGTTTTCAAACTGATTG	0.617																																						dbGAP											0													31.0	36.0	35.0					19																	648960		2192	4297	6489	-	-	-	SO:0001583	missense	0			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.592G>C	19.37:g.648960C>G	ENSP00000292363:p.Glu198Gln			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E198Q	ENST00000292363.5	37	c.592	CCDS12039.1	19	.	.	.	.	.	.	.	.	.	.	c	18.64	3.667115	0.67814	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.15372	2.43	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.78637	2.42	0.80722	D	1	P;D	0.89917	0.897;1.0	B;D	0.75020	0.432;0.985	T	0.30387	-0.9980	10	0.21014	T	0.42	.	15.5152	0.75818	0.0:1.0:0.0:0.0	.	198;50	Q9BV68-2;Q9NPN4	.;.	Q	198	ENSP00000292363:E198Q	ENSP00000292363:E198Q	E	-	1	0	RNF126	599960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.686000	0.84128	1.959000	0.56917	0.491000	0.48974	GAA	RNF126	-	NULL	ENSG00000070423		0.617	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	HGNC	protein_coding	OTTHUMT00000452104.2	8	0.00	0	C	NM_017876		648960	648960	-1	no_errors	ENST00000292363	ensembl	human	known	69_37n	missense	23	39.47	15	SNP	1.000	G
RNASEH2A	10535	genome.wustl.edu	37	19	12918047	12918047	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:12918047G>C	ENST00000221486.4	+	3	321	c.227G>C	c.(226-228)cGg>cCg	p.R76P		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	76					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GAGAGCGAGCGGGAAAGGCTG	0.562																																						dbGAP											0													150.0	136.0	141.0					19																	12918047		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.227G>C	19.37:g.12918047G>C	ENSP00000221486:p.Arg76Pro		B2RCY1|Q96F11	Missense_Mutation	SNP	pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA	p.R76P	ENST00000221486.4	37	c.227	CCDS12282.1	19	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212774	0.79352	.	.	ENSG00000104889	ENST00000221486	D	0.91237	-2.81	5.07	5.07	0.68467	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99461	1.0943	10	0.87932	D	0	-31.1097	17.2144	0.86939	0.0:0.0:1.0:0.0	.	76	O75792	RNH2A_HUMAN	P	76	ENSP00000221486:R76P	ENSP00000221486:R76P	R	+	2	0	RNASEH2A	12779047	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	8.858000	0.92256	2.353000	0.79882	0.455000	0.32223	CGG	RNASEH2A	-	pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA	ENSG00000104889		0.562	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEH2A	HGNC	protein_coding	OTTHUMT00000451507.1	230	0.00	0	G	NM_006397		12918047	12918047	+1	no_errors	ENST00000221486	ensembl	human	known	69_37n	missense	79	38.76	50	SNP	1.000	C
RNLS	55328	genome.wustl.edu	37	10	90341456	90341456	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:90341456C>T	ENST00000331772.4	-	3	257	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Intron|RNLS_ENST00000371947.3_Missense_Mutation_p.E79K	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	79					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GCTAACAGTTCATCATAAAAA	0.333																																						dbGAP											0													34.0	33.0	33.0					10																	90341456		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.235G>A	10.37:g.90341456C>T	ENSP00000332530:p.Glu79Lys		Q9BS33|Q9NUP8	Missense_Mutation	SNP	pfam_Amino_oxidase	p.E79K	ENST00000331772.4	37	c.235	CCDS31239.1	10	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537899	0.85917	.	.	ENSG00000184719	ENST00000371947;ENST00000331772	D;D	0.96104	-1.53;-3.91	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95579	0.8563	M	0.68593	2.085	0.80722	D	1	P;D	0.54772	0.931;0.968	P;P	0.49799	0.544;0.622	D	0.93842	0.7137	10	0.18276	T	0.48	.	18.5879	0.91197	0.0:1.0:0.0:0.0	.	79;79	Q5VYX0;Q5VYX0-2	RNLS_HUMAN;.	K	79	ENSP00000361015:E79K;ENSP00000332530:E79K	ENSP00000332530:E79K	E	-	1	0	RNLS	90331436	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.660000	0.68018	2.683000	0.91414	0.655000	0.94253	GAA	RNLS	-	NULL	ENSG00000184719		0.333	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	21	0.00	0	C	NM_018363		90341456	90341456	-1	no_errors	ENST00000331772	ensembl	human	known	69_37n	missense	12	53.85	14	SNP	1.000	T
ROBO2	6092	genome.wustl.edu	37	3	77607285	77607285	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:77607285G>C	ENST00000461745.1	+	9	2322	c.1422G>C	c.(1420-1422)caG>caC	p.Q474H	ROBO2_ENST00000487694.3_Missense_Mutation_p.Q490H|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q474H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	474	Ig-like C2-type 5.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCACACTGCAGATTAAGAATT	0.378																																						dbGAP											0													82.0	80.0	81.0					3																	77607285		1880	4114	5994	-	-	-	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1422G>C	3.37:g.77607285G>C	ENSP00000417164:p.Gln474His		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q474H	ENST00000461745.1	37	c.1422	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294810	0.40594	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.27557	1.66;1.66;1.66	5.68	4.81	0.61882	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43747	D	0.000529	T	0.32041	0.0816	N	0.11064	0.09	0.39177	D	0.962700	B;D;B	0.76494	0.385;0.999;0.385	P;D;B	0.73708	0.516;0.981;0.275	T	0.44528	-0.9322	9	0.31617	T	0.26	.	10.4003	0.44225	0.1503:0.0:0.8497:0.0	.	490;474;474	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	490;490;494;474;474;195	ENSP00000417335:Q490H;ENSP00000417164:Q474H;ENSP00000327536:Q474H	ENSP00000327536:Q474H	Q	+	3	2	ROBO2	77689975	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	1.639000	0.37176	1.550000	0.49438	0.585000	0.79938	CAG	ROBO2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000185008		0.378	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	32	0.00	0	G	XM_031246		77607285	77607285	+1	no_errors	ENST00000461745	ensembl	human	known	69_37n	missense	18	52.63	20	SNP	1.000	C
ROBO1	6091	genome.wustl.edu	37	3	78695325	78695325	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:78695325C>T	ENST00000464233.1	-	21	2968	c.2855G>A	c.(2854-2856)gGa>gAa	p.G952E	ROBO1_ENST00000467549.1_Missense_Mutation_p.G907E|ROBO1_ENST00000436010.2_Missense_Mutation_p.G913E|ROBO1_ENST00000495273.1_Missense_Mutation_p.G907E	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	952					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGCTTCGCCTCCTCTCTGGTA	0.348																																						dbGAP											0													109.0	106.0	107.0					3																	78695325		1868	4094	5962	-	-	-	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2855G>A	3.37:g.78695325C>T	ENSP00000420321:p.Gly952Glu		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G952E	ENST00000464233.1	37	c.2855	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429520	0.83776	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.60797	0.23;0.21;0.16;0.32	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.68952	2.095	0.58432	D	0.999998	D;B;P;B;P	0.62365	0.991;0.417;0.954;0.002;0.823	P;B;P;B;P	0.61070	0.883;0.104;0.448;0.003;0.481	T	0.71520	-0.4568	9	.	.	.	.	17.4185	0.87507	0.0:1.0:0.0:0.0	.	916;952;907;907;913	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	E	913;907;952;907;907;956	ENSP00000406043:G913E;ENSP00000420321:G952E;ENSP00000420637:G907E;ENSP00000417992:G907E	.	G	-	2	0	ROBO1	78778015	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.330000	0.79181	2.629000	0.89072	0.484000	0.47621	GGA	ROBO1	-	NULL	ENSG00000169855		0.348	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	75	0.00	0	C	NM_002941		78695325	78695325	-1	no_errors	ENST00000464233	ensembl	human	known	69_37n	missense	74	40.80	51	SNP	1.000	T
ROR1	4919	genome.wustl.edu	37	1	64643812	64643812	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:64643812C>T	ENST00000371079.1	+	9	2463	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	ROR1_ENST00000545203.1_Silent_p.F147F	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	696	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTATGGATTCAGTAACCAGG	0.458																																						dbGAP											0													68.0	71.0	70.0					1																	64643812		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2088C>T	1.37:g.64643812C>T			Q5VVX6|Q66K77|Q92776	Silent	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.F696	ENST00000371079.1	37	c.2088	CCDS626.1	1																																																																																			ROR1	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000185483		0.458	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1	29	0.00	0	C	NM_005012		64643812	64643812	+1	no_errors	ENST00000371079	ensembl	human	known	69_37n	silent	19	29.63	8	SNP	0.525	T
RP1	6101	genome.wustl.edu	37	8	55533670	55533670	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:55533670C>T	ENST00000220676.1	+	2	292	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	48	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.F48F(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCCCAATTCGGCGGGGTCA	0.552																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											2	Substitution - coding silent(2)	large_intestine(1)|breast(1)											102.0	91.0	95.0					8																	55533670		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.144C>T	8.37:g.55533670C>T				Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.F48	ENST00000220676.1	37	c.144	CCDS6160.1	8																																																																																			RP1	-	superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000104237		0.552	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	55	0.00	0	C	NM_006269		55533670	55533670	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	silent	55	32.93	27	SNP	0.008	T
RPGRIP1	57096	genome.wustl.edu	37	14	21792899	21792899	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:21792899G>C	ENST00000400017.2	+	14	1885	c.1885G>C	c.(1885-1887)Gaa>Caa	p.E629Q	RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E591Q|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E629Q	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	629					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAATCTTTTTGAACTGCACAT	0.498																																						dbGAP											0													132.0	126.0	128.0					14																	21792899		2027	4188	6215	-	-	-	SO:0001583	missense	0			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1885G>C	14.37:g.21792899G>C	ENSP00000382895:p.Glu629Gln		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E629Q	ENST00000400017.2	37	c.1885	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458318	0.84317	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000554303	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	D	0.95818	0.8847	10	0.72032	D	0.01	-22.7131	18.396	0.90499	0.0:0.0:1.0:0.0	.	12;104;245;629	Q96KN7-2;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	Q	591;629;629;104;91	ENSP00000451219:E591Q;ENSP00000382895:E629Q;ENSP00000206660:E629Q;ENSP00000451262:E104Q;ENSP00000450426:E91Q	ENSP00000206660:E629Q	E	+	1	0	RPGRIP1	20862739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.545000	0.90657	2.882000	0.98803	0.655000	0.94253	GAA	RPGRIP1	-	pfam_DUF3250	ENSG00000092200		0.498	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	113	0.00	0	G	NM_020366		21792899	21792899	+1	no_errors	ENST00000206660	ensembl	human	known	69_37n	missense	83	33.06	41	SNP	1.000	C
RPS6KC1	26750	genome.wustl.edu	37	1	213303185	213303185	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:213303185C>G	ENST00000366960.3	+	6	938	c.788C>G	c.(787-789)tCt>tGt	p.S263C	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S251C|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S82C|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	263					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAAGCTGCTTCTGATTTTTAT	0.368																																						dbGAP											0													64.0	66.0	65.0					1																	213303185		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.788C>G	1.37:g.213303185C>G	ENSP00000355927:p.Ser263Cys		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.S263C	ENST00000366960.3	37	c.788	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106719	0.56291	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959	T;T;T	0.69926	-0.44;-0.44;-0.44	5.54	4.62	0.57501	MIT (2);	0.127498	0.53938	N	0.000057	T	0.62829	0.2460	N	0.22421	0.69	0.80722	D	1	D;D;D	0.63880	0.993;0.984;0.984	P;P;P	0.62649	0.855;0.905;0.905	T	0.66006	-0.6030	10	0.72032	D	0.01	-23.1297	3.3802	0.07252	0.2146:0.5766:0.0:0.2088	.	82;263;251	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	C	82;263;251	ENSP00000442306:S82C;ENSP00000355927:S263C;ENSP00000355926:S251C	ENSP00000355926:S251C	S	+	2	0	RPS6KC1	211369808	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	3.727000	0.54984	2.605000	0.88082	0.591000	0.81541	TCT	RPS6KC1	-	pfam_MIT,smart_MIT	ENSG00000136643		0.368	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	59	0.00	0	C	NM_012424		213303185	213303185	+1	no_errors	ENST00000366960	ensembl	human	known	69_37n	missense	44	33.33	22	SNP	0.969	G
RRN3	54700	genome.wustl.edu	37	16	15180234	15180234	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:15180234G>A	ENST00000198767.6	-	4	413	c.330C>T	c.(328-330)atC>atT	p.I110I	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000564131.1_Silent_p.I110I|RRN3_ENST00000327307.7_Silent_p.I77I|RRN3_ENST00000540462.1_5'UTR|RRN3_ENST00000563559.1_Silent_p.I110I|RRN3_ENST00000429751.2_Intron	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	110					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						ATATAATACTGATAAGTTGCT	0.299																																						dbGAP											0													56.0	62.0	60.0					16																	15180234		2196	4288	6484	-	-	-	SO:0001819	synonymous_variant	0			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.330C>T	16.37:g.15180234G>A			A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Silent	SNP	pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	p.I110	ENST00000198767.6	37	c.330	CCDS10559.1	16																																																																																			RRN3	-	pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	ENSG00000085721		0.299	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRN3	HGNC	protein_coding	OTTHUMT00000252087.2	21	0.00	0	G	NM_018427		15180234	15180234	-1	no_errors	ENST00000198767	ensembl	human	known	69_37n	silent	36	34.55	19	SNP	0.423	A
RSBN1L	222194	genome.wustl.edu	37	7	77408043	77408043	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:77408043C>T	ENST00000334955.8	+	8	2126	c.2099C>T	c.(2098-2100)tCt>tTt	p.S700F	RSBN1L_ENST00000445288.1_Missense_Mutation_p.S430F	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	700						nucleus (GO:0005634)		p.S700F(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGGACACTTCTCAGAATACA	0.418																																						dbGAP											1	Substitution - Missense(1)	lung(1)											147.0	139.0	142.0					7																	77408043		1995	4179	6174	-	-	-	SO:0001583	missense	0			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.2099C>T	7.37:g.77408043C>T	ENSP00000334040:p.Ser700Phe		C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	NULL	p.S700F	ENST00000334955.8	37	c.2099	CCDS43607.1	7	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471726	0.43942	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.84	3.03	0.35002	.	0.505719	0.23440	N	0.048143	T	0.47097	0.1427	L	0.55481	1.735	0.27453	N	0.953386	D	0.57571	0.98	P	0.53649	0.731	T	0.40175	-0.9577	9	0.66056	D	0.02	-0.7483	8.3081	0.32055	0.0:0.7246:0.1333:0.1421	.	700	Q6PCB5	RSBNL_HUMAN	F	700;430	.	ENSP00000334040:S700F	S	+	2	0	RSBN1L	77245979	0.800000	0.28916	0.024000	0.17045	0.884000	0.51177	1.036000	0.30228	0.369000	0.24510	0.591000	0.81541	TCT	RSBN1L	-	NULL	ENSG00000187257		0.418	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1L	HGNC	protein_coding	OTTHUMT00000340455.3	49	0.00	0	C	NM_198467		77408043	77408043	+1	no_errors	ENST00000334955	ensembl	human	known	69_37n	missense	49	36.36	28	SNP	0.823	T
RSPH14	27156	genome.wustl.edu	37	22	23482532	23482532	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:23482532G>C	ENST00000216036.4	-	2	272	c.76C>G	c.(76-78)Cgg>Ggg	p.R26G	RTDR1_ENST00000406876.1_Missense_Mutation_p.R26G	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		26										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GGCAGGGCCCGATGGCCATAG	0.567																																						dbGAP											0													127.0	102.0	111.0					22																	23482532		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000216036.4:c.76C>G	22.37:g.23482532G>C	ENSP00000216036:p.Arg26Gly			Missense_Mutation	SNP	pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold	p.R26G	ENST00000216036.4	37	c.76	CCDS13803.1	22	.	.	.	.	.	.	.	.	.	.	G	15.62	2.885970	0.51908	.	.	ENSG00000100218	ENST00000216036;ENST00000406876	T;T	0.36878	1.26;1.23	4.91	-0.0486	0.13838	Armadillo-like helical (1);	0.315534	0.25436	N	0.030688	T	0.50086	0.1595	M	0.77103	2.36	0.25850	N	0.983953	D;D	0.71674	0.998;0.998	D;D	0.65233	0.924;0.933	T	0.35992	-0.9766	10	0.36615	T	0.2	-16.2091	6.9305	0.24439	0.0868:0.0:0.3417:0.5715	.	47;26	B7Z5X4;Q9UHP6	.;RTDR1_HUMAN	G	26	ENSP00000216036:R26G;ENSP00000385567:R26G	ENSP00000216036:R26G	R	-	1	2	RTDR1	21812532	0.691000	0.27709	0.535000	0.28026	0.669000	0.39330	0.837000	0.27558	0.204000	0.20548	0.561000	0.74099	CGG	RTDR1	-	NULL	ENSG00000100218		0.567	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTDR1	HGNC	protein_coding	OTTHUMT00000319049.1	150	0.00	0	G			23482532	23482532	-1	no_errors	ENST00000216036	ensembl	human	known	69_37n	missense	61	40.78	42	SNP	0.306	C
RUFY2	55680	genome.wustl.edu	37	10	70161423	70161423	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:70161423C>T	ENST00000602465.1	-	3	350	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	RUFY2_ENST00000388768.2_Missense_Mutation_p.E119K|RUFY2_ENST00000342616.4_Missense_Mutation_p.E84K|RUFY2_ENST00000454950.2_Missense_Mutation_p.E26K|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Missense_Mutation_p.E84K			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	133						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TCCTCTGCTTCGGGGTACAGC	0.433																																						dbGAP											0													113.0	118.0	116.0					10																	70161423		1863	4108	5971	-	-	-	SO:0001583	missense	0			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.250G>A	10.37:g.70161423C>T	ENSP00000473462:p.Glu84Lys		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel	p.E119K	ENST00000602465.1	37	c.355		10	.	.	.	.	.	.	.	.	.	.	C	35	5.578324	0.96565	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950;ENST00000342616	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.86178	2.8	0.80722	D	1	D;B;D;D;D	0.76494	0.998;0.359;0.998;0.999;0.999	D;B;D;D;D	0.78314	0.991;0.234;0.985;0.988;0.99	T	0.67937	-0.5541	10	0.87932	D	0	.	18.9138	0.92496	0.0:1.0:0.0:0.0	.	26;84;84;84;119	B4DFR0;Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.;.	K	119;84;26;84	ENSP00000373420:E119K;ENSP00000382151:E84K;ENSP00000404986:E26K;ENSP00000341727:E84K	ENSP00000341727:E84K	E	-	1	0	RUFY2	69831429	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.580000	0.82523	2.695000	0.91970	0.655000	0.94253	GAA	RUFY2	-	pfam_Run,pfscan_Run	ENSG00000204130		0.433	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	RUFY2	HGNC	protein_coding	OTTHUMT00000467567.1	70	0.00	0	C	NM_017987		70161423	70161423	-1	no_errors	ENST00000388768	ensembl	human	known	69_37n	missense	71	39.32	46	SNP	1.000	T
RUNX2	860	genome.wustl.edu	37	6	45480142	45480142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:45480142C>A	ENST00000371438.1	+	6	1377	c.1019C>A	c.(1018-1020)tCa>tAa	p.S340*	RUNX2_ENST00000541979.1_Nonsense_Mutation_p.S408*|RUNX2_ENST00000465038.2_Nonsense_Mutation_p.S340*|RUNX2_ENST00000359524.5_Nonsense_Mutation_p.S326*|RUNX2_ENST00000371432.3_Nonsense_Mutation_p.S326*|RUNX2_ENST00000352853.5_Nonsense_Mutation_p.S408*|RUNX2_ENST00000576263.1_Nonsense_Mutation_p.S340*|RUNX2_ENST00000371436.6_Nonsense_Mutation_p.S340*	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	340	Interaction with KAT6A. {ECO:0000250}.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGGCGCATTTCAGGTAAAGAC	0.582																																						dbGAP											0													90.0	76.0	81.0					6																	45480142		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1019C>A	6.37:g.45480142C>A	ENSP00000360493:p.Ser340*		O14614|O14615|O95181	Nonsense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.S408*	ENST00000371438.1	37	c.1223	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	C	39	7.417783	0.98272	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	.	.	.	6.06	6.06	0.98353	.	0.059867	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4878	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	340;408;408;340;340;326;326	.	ENSP00000319087:S408X	S	+	2	0	RUNX2	45588120	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.422000	0.80217	2.880000	0.98712	0.650000	0.86243	TCA	RUNX2	-	NULL	ENSG00000124813		0.582	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	52	0.00	0	C	NM_004348		45480142	45480142	+1	no_errors	ENST00000352853	ensembl	human	known	69_37n	nonsense	29	27.50	11	SNP	1.000	A
RXRG	6258	genome.wustl.edu	37	1	165386311	165386311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:165386311G>A	ENST00000359842.5	-	4	891	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	197					gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	AGGCACTTCTGATAGCGACAG	0.507																																						dbGAP											0													114.0	100.0	105.0					1																	165386311		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.589C>T	1.37:g.165386311G>A	ENSP00000352900:p.Gln197*		A6NIP1|Q6IBU7	Nonsense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF	p.Q197*	ENST00000359842.5	37	c.589	CCDS1248.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.242091	0.98722	.	.	ENSG00000143171	ENST00000359842	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	16.9732	0.86306	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000352900:Q197X	Q	-	1	0	RXRG	163652935	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.497000	0.81536	2.565000	0.86533	0.655000	0.94253	CAG	RXRG	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000143171		0.507	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRG	HGNC	protein_coding	OTTHUMT00000083794.2	53	0.00	0	G	NM_006917		165386311	165386311	-1	no_errors	ENST00000359842	ensembl	human	known	69_37n	nonsense	104	27.27	39	SNP	1.000	A
RYR1	6261	genome.wustl.edu	37	19	38996472	38996472	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:38996472C>G	ENST00000359596.3	+	54	8427	c.8427C>G	c.(8425-8427)atC>atG	p.I2809M	RYR1_ENST00000355481.4_Missense_Mutation_p.I2809M|RYR1_ENST00000360985.3_Missense_Mutation_p.I2809M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2809	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)	GCTGGCCCATCAAGGAGTCCC	0.547																																						dbGAP											0													75.0	77.0	76.0					19																	38996472		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8427C>G	19.37:g.38996472C>G	ENSP00000352608:p.Ile2809Met		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.I2809M	ENST00000359596.3	37	c.8427	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	8.815	0.936119	0.18206	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91894	-2.93;-2.93;-2.93	4.08	1.9	0.25705	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000004	D	0.91112	0.7202	L	0.58669	1.825	0.35972	D	0.835407	P;P	0.44260	0.796;0.83	P;P	0.50405	0.507;0.64	D	0.89911	0.4052	10	0.45353	T	0.12	.	7.6571	0.28381	0.1636:0.7465:0.0:0.0899	.	2809;2809	P21817-2;P21817	.;RYR1_HUMAN	M	2809	ENSP00000352608:I2809M;ENSP00000347667:I2809M;ENSP00000354254:I2809M	ENSP00000347667:I2809M	I	+	3	3	RYR1	43688312	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.452000	0.21795	0.502000	0.28037	0.485000	0.47835	ATC	RYR1	-	pfam_Ryanodine_rcpt	ENSG00000196218		0.547	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	66	0.00	0	C			38996472	38996472	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	G
RYR1	6261	genome.wustl.edu	37	19	39055673	39055673	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:39055673C>T	ENST00000359596.3	+	91	12699	c.12699C>T	c.(12697-12699)ttC>ttT	p.F4233F	RYR1_ENST00000355481.4_Silent_p.F4228F|RYR1_ENST00000360985.3_Silent_p.F4228F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4233					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)	TGGAGCTCTTCGTGAGTTTCT	0.642																																						dbGAP											0													29.0	23.0	25.0					19																	39055673		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12699C>T	19.37:g.39055673C>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,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.F4233	ENST00000359596.3	37	c.12699	CCDS33011.1	19																																																																																			RYR1	-	NULL	ENSG00000196218		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	16	0.00	0	C			39055673	39055673	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	silent	7	53.33	8	SNP	1.000	T
RYR2	6262	genome.wustl.edu	37	1	237947476	237947476	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:237947476C>A	ENST00000366574.2	+	90	12781	c.12464C>A	c.(12463-12465)tCc>tAc	p.S4155Y	RYR2_ENST00000360064.6_Missense_Mutation_p.S4161Y|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.S4139Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4155					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCAGTGAGTCCAGCCGAACC	0.512																																						dbGAP											0													87.0	90.0	89.0					1																	237947476		1940	4149	6089	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12464C>A	1.37:g.237947476C>A	ENSP00000355533:p.Ser4155Tyr		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.S4161Y	ENST00000366574.2	37	c.12482	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909647	0.72983	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97994	-4.65;-4.65;-4.65	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000011	D	0.98397	0.9467	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.87578	0.998;0.885	D	0.99816	1.1044	10	0.87932	D	0	.	19.4843	0.95024	0.0:1.0:0.0:0.0	.	1129;4155	B4DGV4;Q92736	.;RYR2_HUMAN	Y	4155;4161;4139;1129	ENSP00000355533:S4155Y;ENSP00000353174:S4161Y;ENSP00000443798:S4139Y	ENSP00000353174:S4161Y	S	+	2	0	RYR2	236014099	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.776000	0.85560	2.610000	0.88304	0.655000	0.94253	TCC	RYR2	-	NULL	ENSG00000198626		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	45	0.00	0	C	NM_001035		237947476	237947476	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	48	29.41	20	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	33831625	33831625	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:33831625G>A	ENST00000389232.4	+	6	578	c.508G>A	c.(508-510)Gac>Aac	p.D170N	RYR3_ENST00000415757.3_Missense_Mutation_p.D170N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	170	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AATTGGCGATGACCTCATCCT	0.433																																						dbGAP											0													94.0	93.0	94.0					15																	33831625		1976	4148	6124	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.508G>A	15.37:g.33831625G>A	ENSP00000373884:p.Asp170Asn		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.D170N	ENST00000389232.4	37	c.508	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.237659	0.95240	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98400	-4.91;-4.91	5.02	5.02	0.67125	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.85682	D	0.000000	D	0.98776	0.9588	M	0.74647	2.275	0.80722	D	1	D;D	0.62365	0.991;0.967	D;P	0.69824	0.966;0.817	D	0.99819	1.1046	10	0.72032	D	0.01	.	18.1336	0.89610	0.0:0.0:1.0:0.0	.	170;170	Q15413-2;Q15413	.;RYR3_HUMAN	N	170	ENSP00000373884:D170N;ENSP00000399610:D170N	ENSP00000354735:D170N	D	+	1	0	RYR3	31618917	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.478000	0.97927	2.609000	0.88269	0.655000	0.94253	GAC	RYR3	-	pfam_Ins145_P3_rcpt,superfamily_MIR,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif	ENSG00000198838		0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	64	0.00	0	G			33831625	33831625	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	54	27.03	20	SNP	1.000	A
S100A7L2	645922	genome.wustl.edu	37	1	153410674	153410674	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:153410674G>C	ENST00000368725.2	-	2	164	c.165C>G	c.(163-165)ctC>ctG	p.L55L		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	44	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCCACTGAGGAAGTTGG	0.522																																						dbGAP											0													117.0	97.0	104.0					1																	153410674		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0					1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"""EF-hand domain containing"""	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.165C>G	1.37:g.153410674G>C				Silent	SNP	pfscan_EF_HAND_2	p.L55	ENST00000368725.2	37	c.165		1																																																																																			S100A7L2	-	NULL	ENSG00000197364		0.522	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	S100A7L2	HGNC	protein_coding	OTTHUMT00000036797.2	67	0.00	0	G	NM_001045479		153410674	153410674	-1	no_errors	ENST00000453814	ensembl	human	known	69_37n	silent	133	32.14	63	SNP	0.499	C
SACS	26278	genome.wustl.edu	37	13	23907808	23907808	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr13:23907808C>T	ENST00000382292.3	-	9	10480	c.10207G>A	c.(10207-10209)Gat>Aat	p.D3403N	SACS_ENST00000382298.3_Missense_Mutation_p.D3403N|SACS_ENST00000402364.1_Missense_Mutation_p.D2653N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3403					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTTTTATATCATCTTGGGAC	0.328																																						dbGAP											0													81.0	84.0	83.0					13																	23907808		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10207G>A	13.37:g.23907808C>T	ENSP00000371729:p.Asp3403Asn		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.D3403N	ENST00000382292.3	37	c.10207	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	8.216	0.801422	0.16397	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87412	-2.1;-2.25;-2.1	5.94	5.94	0.96194	.	0.050044	0.85682	D	0.000000	T	0.76941	0.4058	N	0.17082	0.46	0.31354	N	0.682168	B	0.15141	0.012	B	0.12156	0.007	T	0.67699	-0.5603	10	0.11182	T	0.66	.	15.1209	0.72441	0.1414:0.8586:0.0:0.0	.	3403	Q9NZJ4	SACS_HUMAN	N	3403;2653;3403	ENSP00000371729:D3403N;ENSP00000385844:D2653N;ENSP00000371735:D3403N	ENSP00000371729:D3403N	D	-	1	0	SACS	22805808	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.920000	0.56446	2.826000	0.97356	0.561000	0.74099	GAT	SACS	-	NULL	ENSG00000151835		0.328	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	19	0.00	0	C	NM_014363		23907808	23907808	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	13	61.76	21	SNP	1.000	T
SAMD4A	23034	genome.wustl.edu	37	14	55203846	55203846	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:55203846G>A	ENST00000554335.1	+	4	1483	c.820G>A	c.(820-822)Gag>Aag	p.E274K	SAMD4A_ENST00000357634.3_Missense_Mutation_p.E273K|SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000392067.3_Missense_Mutation_p.E274K			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	274					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GATGTCTCATGAGGACTTACG	0.557																																						dbGAP											0													242.0	231.0	235.0					14																	55203846		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.820G>A	14.37:g.55203846G>A	ENSP00000452535:p.Glu274Lys		A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.E274K	ENST00000554335.1	37	c.820	CCDS32084.2	14	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821523	0.90873	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000357634	.	.	.	5.33	5.33	0.75918	.	0.135320	0.49916	D	0.000121	T	0.56702	0.2003	L	0.53249	1.67	0.80722	D	1	P	0.46987	0.888	B	0.40165	0.321	T	0.64554	-0.6380	9	0.87932	D	0	-14.6159	19.2213	0.93797	0.0:0.0:1.0:0.0	.	274	Q9UPU9	SMAG1_HUMAN	K	274;274;273	.	ENSP00000350261:E273K	E	+	1	0	SAMD4A	54273596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.016000	0.93645	2.775000	0.95449	0.655000	0.94253	GAG	SAMD4A	-	NULL	ENSG00000020577		0.557	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	70	0.00	0	G	NM_015589		55203846	55203846	+1	no_errors	ENST00000392067	ensembl	human	known	69_37n	missense	51	32.00	24	SNP	1.000	A
SAMD15	161394	genome.wustl.edu	37	14	77845316	77845316	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:77845316G>C	ENST00000216471.4	+	1	1841	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	519										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTGTCCCAAGAGTTGAAGGA	0.428																																						dbGAP											0													92.0	89.0	90.0					14																	77845316		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1555G>C	14.37:g.77845316G>C	ENSP00000216471:p.Glu519Gln		Q2M3P3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E519Q	ENST00000216471.4	37	c.1555	CCDS32126.1	14	.	.	.	.	.	.	.	.	.	.	G	9.351	1.065603	0.20067	.	.	ENSG00000100583	ENST00000216471	T	0.20200	2.09	4.77	1.86	0.25419	.	1.022760	0.07861	N	0.966365	T	0.15998	0.0385	L	0.27053	0.805	0.09310	N	1	B	0.23058	0.079	B	0.25884	0.064	T	0.33189	-0.9878	10	0.56958	D	0.05	-0.1291	7.1911	0.25826	0.3107:0.0:0.6893:0.0	.	519	Q9P1V8	SAM15_HUMAN	Q	519	ENSP00000216471:E519Q	ENSP00000216471:E519Q	E	+	1	0	SAMD15	76915069	0.002000	0.14202	0.007000	0.13788	0.006000	0.05464	0.853000	0.27777	0.539000	0.28788	-0.258000	0.10820	GAG	SAMD15	-	NULL	ENSG00000100583		0.428	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD15	HGNC	protein_coding	OTTHUMT00000394587.2	75	0.00	0	G	NM_001010860		77845316	77845316	+1	no_errors	ENST00000216471	ensembl	human	known	69_37n	missense	42	39.13	27	SNP	0.005	C
SAMSN1	64092	genome.wustl.edu	37	21	15858421	15858421	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr21:15858421C>T	ENST00000400566.1	-	8	1015	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	SAMSN1_ENST00000400564.1_Missense_Mutation_p.E144K|SAMSN1_ENST00000285670.2_Missense_Mutation_p.E380K	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	312					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGTTCATTTTCTTGCTCTTGA	0.388																																						dbGAP											0													47.0	41.0	43.0					21																	15858421		1843	4095	5938	-	-	-	SO:0001583	missense	0			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.934G>A	21.37:g.15858421C>T	ENSP00000383411:p.Glu312Lys		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E312K	ENST00000400566.1	37	c.934	CCDS42906.1	21	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668544	0.47677	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	T;T	0.49432	0.78;0.8	6.08	6.08	0.98989	.	.	.	.	.	T	0.51652	0.1687	L	0.50333	1.59	0.35100	D	0.765141	P;B;B	0.51933	0.949;0.006;0.002	P;B;B	0.49085	0.6;0.015;0.004	T	0.62714	-0.6796	9	0.52906	T	0.07	0.0235	14.2312	0.65892	0.0:0.924:0.0:0.076	.	144;380;312	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	K	380;312;144	ENSP00000285670:E380K;ENSP00000383411:E312K	ENSP00000285670:E380K	E	-	1	0	SAMSN1	14780292	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.714000	0.54889	2.894000	0.99253	0.591000	0.81541	GAA	SAMSN1	-	NULL	ENSG00000155307		0.388	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMSN1	HGNC	protein_coding	OTTHUMT00000157914.1	93	0.00	0	C			15858421	15858421	-1	no_errors	ENST00000400566	ensembl	human	known	69_37n	missense	12	71.43	30	SNP	1.000	T
SCN11A	11280	genome.wustl.edu	37	3	38938592	38938592	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:38938592G>C	ENST00000302328.3	-	14	2345	c.2147C>G	c.(2146-2148)tCa>tGa	p.S716*	SCN11A_ENST00000450244.1_Nonsense_Mutation_p.S716*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.S716*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.S716*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	716					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCAACTACTGAGAAAATAAA	0.478																																						dbGAP											0													72.0	69.0	70.0					3																	38938592		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2147C>G	3.37:g.38938592G>C	ENSP00000307599:p.Ser716*		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.S716*	ENST00000302328.3	37	c.2147	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.667484	0.99234	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	.	.	.	5.95	5.95	0.96441	.	0.119942	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	.	.	.	X	716	.	ENSP00000307599:S716X	S	-	2	0	SCN11A	38913596	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	9.813000	0.99286	2.827000	0.97445	0.650000	0.86243	TCA	SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.478	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	92	0.00	0	G	NM_014139		38938592	38938592	-1	no_errors	ENST00000302328	ensembl	human	known	69_37n	nonsense	43	33.85	22	SNP	1.000	C
SCN8A	6334	genome.wustl.edu	37	12	52156412	52156412	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:52156412G>C	ENST00000354534.6	+	15	2674	c.2496G>C	c.(2494-2496)ctG>ctC	p.L832L	SCN8A_ENST00000545061.1_Silent_p.L832L|SCN8A_ENST00000550891.1_Silent_p.L832L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	832					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TAATGGAACTGAGTCTAGCAG	0.403																																						dbGAP											0													131.0	130.0	130.0					12																	52156412		1883	4126	6009	-	-	-	SO:0001819	synonymous_variant	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2496G>C	12.37:g.52156412G>C			B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L832	ENST00000354534.6	37	c.2496	CCDS44891.1	12																																																																																			SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.403	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	82	0.00	0	G	NM_014191		52156412	52156412	+1	no_errors	ENST00000354534	ensembl	human	known	69_37n	silent	76	36.67	44	SNP	0.984	C
SCYL2	55681	genome.wustl.edu	37	12	100707305	100707305	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:100707305C>G	ENST00000360820.2	+	7	1395	c.958C>G	c.(958-960)Caa>Gaa	p.Q320E		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	320	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGATGCAGATCAAATGACAAA	0.343																																						dbGAP											0													93.0	85.0	87.0					12																	100707305		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.958C>G	12.37:g.100707305C>G	ENSP00000354061:p.Gln320Glu		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	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,pfscan_Prot_kinase_cat_dom	p.Q320E	ENST00000360820.2	37	c.958	CCDS9076.1	12	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581334	0.65992	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.71222	-0.55;-0.55	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	N	0.20610	0.595	0.80722	D	1	B	0.25743	0.133	B	0.28849	0.095	T	0.55003	-0.8208	10	0.07482	T	0.82	.	20.2119	0.98289	0.0:1.0:0.0:0.0	.	320	Q6P3W7	SCYL2_HUMAN	E	320;147;320	ENSP00000448366:Q320E;ENSP00000354061:Q320E	ENSP00000258506:Q147E	Q	+	1	0	SCYL2	99231436	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.352000	0.79404	2.784000	0.95788	0.585000	0.79938	CAA	SCYL2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000136021		0.343	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL2	HGNC	protein_coding	OTTHUMT00000408493.2	32	0.00	0	C	NM_017988		100707305	100707305	+1	no_errors	ENST00000360820	ensembl	human	known	69_37n	missense	42	47.50	38	SNP	1.000	G
SCYL3	57147	genome.wustl.edu	37	1	169831772	169831772	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:169831772C>G	ENST00000367770.1	-	9	1169	c.1122G>C	c.(1120-1122)aaG>aaC	p.K374N	RN7SL333P_ENST00000476398.2_RNA|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.K374N|SCYL3_ENST00000367771.6_Missense_Mutation_p.K374N			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	374					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGATGACTTTCTTCAGCTGCT	0.498																																						dbGAP											0													227.0	222.0	224.0					1																	169831772		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1122G>C	1.37:g.169831772C>G	ENSP00000356744:p.Lys374Asn		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	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,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom	p.K374N	ENST00000367770.1	37	c.1122	CCDS1287.1	1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692663	0.48202	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.68	1.15	0.20763	Armadillo-like helical (1);Armadillo-type fold (1);	0.183072	0.56097	D	0.000021	T	0.18130	0.0435	M	0.65975	2.015	0.43667	D	0.99609	B;P;D	0.55172	0.332;0.545;0.97	B;B;P	0.56823	0.316;0.442;0.807	T	0.24083	-1.0170	10	0.14252	T	0.57	-6.3525	4.7699	0.13150	0.0:0.4455:0.1585:0.3959	.	20;374;374	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	N	374	ENSP00000356746:K374N;ENSP00000356745:K374N;ENSP00000356744:K374N;ENSP00000407993:K374N	ENSP00000356744:K374N	K	-	3	2	SCYL3	168098396	1.000000	0.71417	0.729000	0.30791	0.988000	0.76386	0.695000	0.25527	0.325000	0.23359	0.609000	0.83330	AAG	SCYL3	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000000457		0.498	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4	22	0.00	0	C	NM_181093		169831772	169831772	-1	no_errors	ENST00000367770	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	1.000	G
SDAD1	55153	genome.wustl.edu	37	4	76878805	76878805	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:76878805G>A	ENST00000356260.5	-	19	1753	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	SDAD1_ENST00000395711.4_Silent_p.I508I|SDAD1_ENST00000513089.1_5'Flank	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	545					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGCTAGTGCTGATGGCTGCAG	0.512																																						dbGAP											0													86.0	87.0	87.0					4																	76878805		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1635C>T	4.37:g.76878805G>A			Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP	pfam_SDA1,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold	p.I545	ENST00000356260.5	37	c.1635	CCDS3573.2	4																																																																																			SDAD1	-	pfam_SDA1	ENSG00000198301		0.512	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1	HGNC	protein_coding	OTTHUMT00000252418.3	150	0.00	0	G	NM_018115		76878805	76878805	-1	no_errors	ENST00000356260	ensembl	human	known	69_37n	silent	69	61.88	112	SNP	0.992	A
SDE2	163859	genome.wustl.edu	37	1	226173184	226173184	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:226173184G>C	ENST00000272091.7	-	7	1193	c.1175C>G	c.(1174-1176)tCt>tGt	p.S392C		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	392																	TTCTGCAACAGAGGTGAACGC	0.433																																						dbGAP											0													86.0	81.0	82.0					1																	226173184		1890	4102	5992	-	-	-	SO:0001583	missense	0			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.1175C>G	1.37:g.226173184G>C	ENSP00000272091:p.Ser392Cys		A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	superfamily_Mopterin_synth/thiamin_S_b	p.S392C	ENST00000272091.7	37	c.1175	CCDS41473.1	1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581846	0.46006	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.57107	0.44;0.42	5.31	4.38	0.52667	.	0.380646	0.29900	N	0.010910	T	0.61211	0.2329	M	0.66560	2.04	0.50171	D	0.999851	P	0.36125	0.538	P	0.44921	0.464	T	0.64647	-0.6358	10	0.56958	D	0.05	-8.9982	16.1568	0.81675	0.0:0.1334:0.8666:0.0	.	392	Q6IQ49	CA055_HUMAN	C	392;380;297	ENSP00000272091:S392C;ENSP00000355782:S297C	ENSP00000272091:S392C	S	-	2	0	C1orf55	224239807	1.000000	0.71417	0.625000	0.29200	0.304000	0.27724	6.207000	0.72159	1.207000	0.43291	0.591000	0.81541	TCT	SDE2	-	NULL	ENSG00000143751		0.433	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDE2	HGNC	protein_coding	OTTHUMT00000091310.1	26	0.00	0	G	NM_152608		226173184	226173184	-1	no_errors	ENST00000272091	ensembl	human	known	69_37n	missense	64	23.81	20	SNP	1.000	C
SECISBP2L	9728	genome.wustl.edu	37	15	49320846	49320846	+	Nonsense_Mutation	SNP	G	G	C	rs538658887		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:49320846G>C	ENST00000559471.1	-	5	961	c.698C>G	c.(697-699)tCa>tGa	p.S233*	SECISBP2L_ENST00000261847.3_Nonsense_Mutation_p.S233*	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	233							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGTGGTCTCTGAGAGAGACTT	0.433																																						dbGAP											0													113.0	111.0	111.0					15																	49320846		2197	4295	6492	-	-	-	SO:0001587	stop_gained	0			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.698C>G	15.37:g.49320846G>C	ENSP00000453854:p.Ser233*		Q8N767	Nonsense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.S233*	ENST00000559471.1	37	c.698	CCDS53942.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.154489	0.97329	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	.	.	.	5.78	5.78	0.91487	.	0.199126	0.44483	D	0.000444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.5017	0.75703	0.0:0.1377:0.8623:0.0	.	.	.	.	X	233	.	ENSP00000261847:S233X	S	-	2	0	SECISBP2L	47108138	1.000000	0.71417	0.919000	0.36401	0.984000	0.73092	4.460000	0.60108	2.732000	0.93576	0.655000	0.94253	TCA	SECISBP2L	-	NULL	ENSG00000138593		0.433	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SECISBP2L	HGNC	protein_coding	OTTHUMT00000417277.1	73	0.00	0	G	NM_014701		49320846	49320846	-1	no_errors	ENST00000559471	ensembl	human	known	69_37n	nonsense	50	28.57	20	SNP	0.736	C
SELO	83642	genome.wustl.edu	37	22	50649205	50649205	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:50649205C>T	ENST00000380903.2	+	5	1274	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	RP3-402G11.28_ENST00000608016.1_RNA|SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		406													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GGAGGCCATCCTGGCCGAGGA	0.662											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													51.0	64.0	60.0					22																	50649205		2063	4184	6247	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000380903.2:c.1216C>T	22.37:g.50649205C>T		971	Q2TAL2|Q5JZ81|Q8WUI0	Silent	SNP	pfam_UPF0061	p.L406	ENST00000380903.2	37	c.1216	CCDS43034.1	22																																																																																			RP3-402G11.5	-	pfam_UPF0061	ENSG00000073169		0.662	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	SELO	Clone_based_vega_gene	protein_coding	OTTHUMT00000075003.2	14	0.00	0	C			50649205	50649205	+1	pseudogene	ENST00000380903	ensembl	human	known	69_37n	silent	2	81.82	9	SNP	0.615	T
SEMA4D	10507	genome.wustl.edu	37	9	91993811	91993811	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:91993811G>A	ENST00000450295.1	-	16	3173	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Silent_p.F799F|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000422704.2_Silent_p.F799F|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.F799F			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	799					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TCTGCTGGGAGAAGCTCCCTG	0.567																																						dbGAP											0													94.0	87.0	89.0					9																	91993811		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2397C>T	9.37:g.91993811G>A			B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.F799	ENST00000450295.1	37	c.2397	CCDS6685.1	9																																																																																			SEMA4D	-	NULL	ENSG00000187764		0.567	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	26	0.00	0	G	NM_006378		91993811	91993811	-1	no_errors	ENST00000356444	ensembl	human	known	69_37n	silent	20	53.49	23	SNP	1.000	A
SEMA4D	10507	genome.wustl.edu	37	9	91996003	91996003	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:91996003G>C	ENST00000450295.1	-	15	2406	c.1630C>G	c.(1630-1632)Cag>Gag	p.Q544E	SEMA4D_ENST00000420987.1_Missense_Mutation_p.Q544E|SEMA4D_ENST00000356444.2_Missense_Mutation_p.Q544E|SEMA4D_ENST00000339861.4_Missense_Mutation_p.Q544E|SEMA4D_ENST00000455551.2_Missense_Mutation_p.Q544E|SEMA4D_ENST00000422704.2_Missense_Mutation_p.Q544E|SEMA4D_ENST00000343780.4_Missense_Mutation_p.Q544E|SEMA4D_ENST00000438547.2_Missense_Mutation_p.Q544E			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	544	PSI.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTCATCTCCTGAATCAAACCC	0.592																																						dbGAP											0													164.0	141.0	149.0					9																	91996003		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1630C>G	9.37:g.91996003G>C	ENSP00000416523:p.Gln544Glu		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.Q544E	ENST00000450295.1	37	c.1630	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	G	15.06	2.719947	0.48728	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	4.96	4.96	0.65561	.	0.468437	0.25146	N	0.032786	T	0.61035	0.2315	M	0.91459	3.21	0.42950	D	0.994377	D;D	0.89917	0.999;1.0	D;D	0.91635	0.979;0.999	T	0.71251	-0.4648	10	0.87932	D	0	.	17.3882	0.87422	0.0:0.0:1.0:0.0	.	544;544	Q92854-2;Q92854	.;SEM4D_HUMAN	E	544	ENSP00000344923:Q544E;ENSP00000391733:Q544E;ENSP00000411981:Q544E;ENSP00000343418:Q544E;ENSP00000416523:Q544E;ENSP00000405102:Q544E;ENSP00000348822:Q544E;ENSP00000388768:Q544E	ENSP00000344923:Q544E	Q	-	1	0	SEMA4D	91185823	1.000000	0.71417	0.953000	0.39169	0.125000	0.20455	6.527000	0.73803	2.565000	0.86533	0.561000	0.74099	CAG	SEMA4D	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000187764		0.592	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	30	0.00	0	G	NM_006378		91996003	91996003	-1	no_errors	ENST00000356444	ensembl	human	known	69_37n	missense	46	43.90	36	SNP	1.000	C
SEMA6A	57556	genome.wustl.edu	37	5	115803422	115803422	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:115803422G>T	ENST00000343348.6	-	18	2538	c.1751C>A	c.(1750-1752)cCc>cAc	p.P584H	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.P601H|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000282394.6_Intron|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.P11H|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.P584H	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	584					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGTTGTGCTGGGCAAGAGGGA	0.527																																						dbGAP											0													98.0	96.0	97.0					5																	115803422		1998	4166	6164	-	-	-	SO:0001583	missense	0			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1751C>A	5.37:g.115803422G>T	ENSP00000345512:p.Pro584His		Q9P2H9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.P601H	ENST00000343348.6	37	c.1802	CCDS47256.1	5	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651584	0.67472	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000510263	T;T;T;T	0.56444	2.24;2.1;0.46;2.24	5.95	5.95	0.96441	.	4.040170	0.00166	N	0.000002	T	0.68915	0.3053	N	0.19112	0.55	0.80722	D	1	B;D;P;D	0.89917	0.38;0.988;0.956;1.0	B;P;P;D	0.87578	0.241;0.541;0.606;0.998	T	0.57470	-0.7806	10	0.59425	D	0.04	.	19.9975	0.97389	0.0:0.0:1.0:0.0	.	584;128;601;11	Q9H2E6;Q96SM8;Q9H2E6-2;B3KU01	SEM6A_HUMAN;.;.;.	H	584;601;11;584	ENSP00000345512:P584H;ENSP00000257414:P601H;ENSP00000422997:P11H;ENSP00000424388:P584H	ENSP00000257414:P601H	P	-	2	0	SEMA6A	115831321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.331000	0.59273	2.827000	0.97445	0.650000	0.86243	CCC	SEMA6A	-	NULL	ENSG00000092421		0.527	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	144	0.00	0	G	NM_020796		115803422	115803422	-1	no_errors	ENST00000257414	ensembl	human	known	69_37n	missense	51	44.57	41	SNP	1.000	T
SENP1	29843	genome.wustl.edu	37	12	48468567	48468567	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:48468567C>T	ENST00000004980.5	-	7	1040	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.E188K|SENP1_ENST00000549518.1_Missense_Mutation_p.E188K|SENP1_ENST00000549595.1_Missense_Mutation_p.E188K|SENP1_ENST00000551330.1_Missense_Mutation_p.E188K			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	188					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTTTCTTCTTCTTGAACTGTC	0.368																																						dbGAP											0													147.0	127.0	133.0					12																	48468567		1851	4088	5939	-	-	-	SO:0001583	missense	0			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.562G>A	12.37:g.48468567C>T	ENSP00000004980:p.Glu188Lys		A8K7P5|Q86XC8	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.E188K	ENST00000004980.5	37	c.562	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541681	0.85917	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.32988	1.44;1.43;1.44;1.43;1.44	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.76071	0.971;0.987	T	0.31943	-0.9925	10	0.48119	T	0.1	-17.2949	18.5395	0.91022	0.0:1.0:0.0:0.0	.	188;188	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	K	188	ENSP00000004980:E188K;ENSP00000394791:E188K;ENSP00000446681:E188K;ENSP00000450076:E188K;ENSP00000447328:E188K	ENSP00000004980:E188K	E	-	1	0	SENP1	46754834	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.706000	0.61845	2.790000	0.95986	0.655000	0.94253	GAA	SENP1	-	NULL	ENSG00000079387		0.368	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1	225	0.00	0	C	NM_014554		48468567	48468567	-1	no_errors	ENST00000004980	ensembl	human	known	69_37n	missense	161	57.81	222	SNP	1.000	T
SENP1	29843	genome.wustl.edu	37	12	48477419	48477419	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:48477419C>G	ENST00000004980.5	-	6	985	c.507G>C	c.(505-507)ttG>ttC	p.L169F	RNU6-1203P_ENST00000410703.1_RNA|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.L169F|SENP1_ENST00000549518.1_Missense_Mutation_p.L169F|SENP1_ENST00000549595.1_Missense_Mutation_p.L169F|SENP1_ENST00000551330.1_Missense_Mutation_p.L169F			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	169	Ser-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TCTTGGGGCTCAAAAGACTTC	0.408																																						dbGAP											0													117.0	109.0	111.0					12																	48477419		1858	4093	5951	-	-	-	SO:0001583	missense	0			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.507G>C	12.37:g.48477419C>G	ENSP00000004980:p.Leu169Phe		A8K7P5|Q86XC8	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.L169F	ENST00000004980.5	37	c.507	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304730	0.60305	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	4.2	3.23	0.37069	.	0.437804	0.20358	N	0.093908	T	0.19927	0.0479	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.11966	-1.0566	10	0.37606	T	0.19	-6.1156	3.2839	0.06925	0.0:0.5003:0.2187:0.281	.	169;169	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	F	169	ENSP00000004980:L169F;ENSP00000394791:L169F;ENSP00000446681:L169F;ENSP00000450076:L169F;ENSP00000447328:L169F	ENSP00000004980:L169F	L	-	3	2	SENP1	46763686	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.049000	0.14099	1.189000	0.43028	0.655000	0.94253	TTG	SENP1	-	NULL	ENSG00000079387		0.408	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1	67	0.00	0	C	NM_014554		48477419	48477419	-1	no_errors	ENST00000004980	ensembl	human	known	69_37n	missense	113	27.10	42	SNP	1.000	G
SERAC1	84947	genome.wustl.edu	37	6	158532535	158532535	+	Splice_Site	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:158532535C>G	ENST00000367104.3	-	17	1960		c.e17-1		SERAC1_ENST00000367102.2_Splice_Site	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1						extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATGCCTAAATCTGAAGAAAAT	0.343																																						dbGAP											0													67.0	63.0	65.0					6																	158532535		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1829-1G>C	6.37:g.158532535C>G			Q49AT1|Q5VTX3|Q6PKF3	Splice_Site	SNP	-	e16-1	ENST00000367104.3	37	c.1829-1	CCDS5255.1	6	.	.	.	.	.	.	.	.	.	.	.	24.0	4.483541	0.84854	.	.	ENSG00000122335	ENST00000367104	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERAC1	158452523	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.244000	0.78228	2.240000	0.73641	0.528000	0.53228	.	SERAC1	-	-	ENSG00000122335		0.343	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERAC1	HGNC	protein_coding	OTTHUMT00000042862.1	56	0.00	0	C	NM_032861	Intron	158532535	158532535	-1	no_errors	ENST00000367104	ensembl	human	known	69_37n	splice_site	45	42.31	33	SNP	1.000	G
SETD2	29072	genome.wustl.edu	37	3	47164273	47164273	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:47164273G>C	ENST00000409792.3	-	3	1895	c.1853C>G	c.(1852-1854)tCa>tGa	p.S618*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	618					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)	p.S618*(1)|p.S115*(1)		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)		TAATCGATTTGATGGAGCTGG	0.318			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											36.0	40.0	39.0					3																	47164273		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0			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.1853C>G	3.37:g.47164273G>C	ENSP00000386759:p.Ser618*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-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.S618*	ENST00000409792.3	37	c.1853	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509877	0.64522	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.44	5.44	0.79542	.	0.315197	0.23204	N	0.050757	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.2312	0.43256	0.1163:0.0:0.8837:0.0	.	.	.	.	X	618;618;618;574	.	ENSP00000386759:S618X	S	-	2	0	SETD2	47139277	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	2.840000	0.48215	2.828000	0.97474	0.655000	0.94253	TCA	SETD2	-	NULL	ENSG00000181555		0.318	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	18	0.00	0	G	NM_014159		47164273	47164273	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	nonsense	11	50.00	11	SNP	1.000	C
SETD2	29072	genome.wustl.edu	37	3	47164366	47164366	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:47164366G>C	ENST00000409792.3	-	3	1802	c.1760C>G	c.(1759-1761)tCt>tGt	p.S587C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	587					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)		TAAACTAAAAGAATGAGACTG	0.318			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													45.0	51.0	49.0					3																	47164366		2193	4293	6486	-	-	-	SO:0001583	missense	0			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.1760C>G	3.37:g.47164366G>C	ENSP00000386759:p.Ser587Cys		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/RR-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.S587C	ENST00000409792.3	37	c.1760	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370690	0.24771	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.91180	-2.8;1.05	5.43	5.43	0.79202	.	0.112116	0.40469	N	0.001089	D	0.84160	0.5411	N	0.24115	0.695	0.34445	D	0.70003	B;B	0.15473	0.013;0.013	B;B	0.15870	0.014;0.014	D	0.83398	0.0021	10	0.40728	T	0.16	.	14.1255	0.65217	0.0:0.1497:0.8503:0.0	.	587;587	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	587;587;587;543	ENSP00000386759:S587C;ENSP00000416401:S543C	ENSP00000386759:S587C	S	-	2	0	SETD2	47139370	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.429000	0.52800	2.823000	0.97156	0.650000	0.86243	TCT	SETD2	-	NULL	ENSG00000181555		0.318	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	25	0.00	0	G	NM_014159		47164366	47164366	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	missense	16	44.83	13	SNP	1.000	C
SGCG	6445	genome.wustl.edu	37	13	23869574	23869574	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr13:23869574G>C	ENST00000218867.3	+	6	650	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q	SGCG_ENST00000537476.1_Missense_Mutation_p.E176Q|SGCG_ENST00000545013.1_Missense_Mutation_p.E176Q	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	176					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GGCTCTTTTTGAACATTCAGT	0.383																																						dbGAP											0			GRCh37	CM002106	SGCG	M							158.0	160.0	159.0					13																	23869574		2203	4300	6503	-	-	-	SO:0001583	missense	0			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.526G>C	13.37:g.23869574G>C	ENSP00000218867:p.Glu176Gln		Q32M32|Q5T9J6	Missense_Mutation	SNP	pfam_Sarcoglycan	p.E176Q	ENST00000218867.3	37	c.526	CCDS9299.1	13	.	.	.	.	.	.	.	.	.	.	G	8.182	0.794057	0.16327	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.94723	-3.5;-3.5;-3.5	4.6	4.6	0.57074	.	0.052693	0.64402	D	0.000001	D	0.90473	0.7016	L	0.51422	1.61	0.50813	D	0.999892	P	0.38420	0.63	B	0.34873	0.191	D	0.88418	0.3026	10	0.14656	T	0.56	-18.6533	13.2717	0.60164	0.0:0.0:1.0:0.0	.	176	Q13326	SGCG_HUMAN	Q	176	ENSP00000218867:E176Q;ENSP00000444100:E176Q;ENSP00000442232:E176Q	ENSP00000218867:E176Q	E	+	1	0	SGCG	22767574	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	4.816000	0.62642	2.259000	0.74868	0.557000	0.71058	GAA	SGCG	-	pfam_Sarcoglycan	ENSG00000102683		0.383	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	100	0.00	0	G	NM_000231		23869574	23869574	+1	no_errors	ENST00000218867	ensembl	human	known	69_37n	missense	22	71.43	55	SNP	1.000	C
SH3KBP1	30011	genome.wustl.edu	37	X	19701973	19701973	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:19701973C>T	ENST00000397821.3	-	6	984	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E195K|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E276K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	232					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTTTCTACTTCAATTGACCTT	0.408																																						dbGAP											0													186.0	164.0	172.0					X																	19701973		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.694G>A	X.37:g.19701973C>T	ENSP00000380921:p.Glu232Lys		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.E232K	ENST00000397821.3	37	c.694	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388397	0.82902	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.48522	1.55;1.62;1.35;1.22;0.81;0.92	5.72	5.72	0.89469	.	0.580802	0.19097	N	0.122795	T	0.63977	0.2557	L	0.51422	1.61	0.80722	D	1	D;D	0.69078	0.984;0.997	P;D	0.73380	0.724;0.98	T	0.56697	-0.7936	10	0.25751	T	0.34	-17.2909	18.919	0.92518	0.0:1.0:0.0:0.0	.	232;195	Q96B97;Q5JPT5	SH3K1_HUMAN;.	K	217;232;140;195;212;276;179;140	ENSP00000380921:E232K;ENSP00000369020:E195K;ENSP00000369049:E212K;ENSP00000369019:E276K;ENSP00000388766:E179K;ENSP00000409292:E140K	ENSP00000369019:E276K	E	-	1	0	SH3KBP1	19611894	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.683000	0.74533	2.415000	0.81967	0.600000	0.82982	GAA	SH3KBP1	-	NULL	ENSG00000147010		0.408	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	229	0.00	0	C	NM_031892		19701973	19701973	-1	no_errors	ENST00000397821	ensembl	human	known	69_37n	missense	113	39.25	73	SNP	1.000	T
SH3PXD2A	9644	genome.wustl.edu	37	10	105362470	105362470	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:105362470C>G	ENST00000369774.4	-	15	2781	c.2505G>C	c.(2503-2505)aaG>aaC	p.K835N	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.K702N|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.K807N|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.K670N			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	835					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCCATTCCTTCTTGGTGGGAC	0.647																																						dbGAP											0													69.0	70.0	70.0					10																	105362470		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2505G>C	10.37:g.105362470C>G	ENSP00000358789:p.Lys835Asn		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.K835N	ENST00000369774.4	37	c.2505		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.561|9.561	1.118458|1.118458	0.20877|0.20877	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54	4.61|4.61	2.72|2.72	0.32119|0.32119	.|Src homology-3 domain (1);	.|0.771647	.|0.12171	.|N	.|0.493000	T|T	0.13543|0.13543	0.0328|0.0328	N|N	0.04959|0.04959	-0.14|-0.14	0.33357|0.33357	D|D	0.571783|0.571783	.|B;B;B;B	.|0.06786	.|0.001;0.0;0.001;0.001	.|B;B;B;B	.|0.09377	.|0.002;0.001;0.002;0.004	T|T	0.26292|0.26292	-1.0107|-1.0107	5|10	.|0.21540	.|T	.|0.41	-14.8513|-14.8513	6.3519|6.3519	0.21381|0.21381	0.0:0.5277:0.0:0.4723|0.0:0.5277:0.0:0.4723	.|.	.|835;684;680;807	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	Q|N	762|835;807;642;750;702;670	.|ENSP00000358789:K835N;ENSP00000348215:K807N;ENSP00000443663:K702N;ENSP00000441514:K670N	.|ENSP00000318135:K642N	E|K	-|-	1|3	0|2	SH3PXD2A|SH3PXD2A	105352460|105352460	0.631000|0.631000	0.27164|0.27164	0.942000|0.942000	0.38095|0.38095	0.914000|0.914000	0.54420|0.54420	0.973000|0.973000	0.29422|0.29422	0.378000|0.378000	0.24764|0.24764	0.555000|0.555000	0.69702|0.69702	GAA|AAG	SH3PXD2A	-	superfamily_SH3_domain	ENSG00000107957		0.647	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1	59	0.00	0	C	NM_014631		105362470	105362470	-1	no_errors	ENST00000369774	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	1.000	G
SHANK1	50944	genome.wustl.edu	37	19	51191282	51191282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:51191282G>A	ENST00000293441.1	-	17	2224	c.2206C>T	c.(2206-2208)Cga>Tga	p.R736*	SHANK1_ENST00000391814.1_Nonsense_Mutation_p.R736*|SHANK1_ENST00000359082.3_Nonsense_Mutation_p.R727*|SHANK1_ENST00000391813.1_Nonsense_Mutation_p.R123*	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	736	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCACCTGTCGGTGGCCGACC	0.592																																						dbGAP											0													178.0	120.0	140.0					19																	51191282		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2206C>T	19.37:g.51191282G>A	ENSP00000293441:p.Arg736*		A8MXP5|B7WNY6|Q9NYW9	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R736*	ENST00000293441.1	37	c.2206	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	G	40	8.274888	0.98737	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	.	.	.	3.33	3.33	0.38152	.	0.000000	0.64402	U	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6116	13.9587	0.64166	0.0:0.0:1.0:0.0	.	.	.	.	X	736;123;727;736	.	ENSP00000293441:R736X	R	-	1	2	SHANK1	55883094	1.000000	0.71417	0.993000	0.49108	0.747000	0.42532	2.014000	0.40951	1.896000	0.54893	0.289000	0.19496	CGA	SHANK1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000161681		0.592	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	139	0.00	0	G	NM_016148		51191282	51191282	-1	no_errors	ENST00000391814	ensembl	human	known	69_37n	nonsense	48	47.25	43	SNP	1.000	A
SHANK1	50944	genome.wustl.edu	37	19	51219646	51219646	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:51219646G>C	ENST00000293441.1	-	2	363	c.345C>G	c.(343-345)ctC>ctG	p.L115L	SHANK1_ENST00000391814.1_Silent_p.L115L|SHANK1_ENST00000359082.3_Silent_p.L115L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	115					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCCATAGTTGAGCACATCCT	0.627																																						dbGAP											0													56.0	58.0	57.0					19																	51219646		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.345C>G	19.37:g.51219646G>C			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.L115	ENST00000293441.1	37	c.345	CCDS12799.1	19																																																																																			SHANK1	-	NULL	ENSG00000161681		0.627	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	50	0.00	0	G	NM_016148		51219646	51219646	-1	no_errors	ENST00000391814	ensembl	human	known	69_37n	silent	25	37.50	15	SNP	0.968	C
SHE	126669	genome.wustl.edu	37	1	154456804	154456804	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:154456804G>C	ENST00000304760.2	-	6	1395	c.1309C>G	c.(1309-1311)Caa>Gaa	p.Q437E	RP11-350G8.9_ENST00000607963.1_RNA	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	437	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACACATCCTTGACTAGTCCTG	0.458																																						dbGAP											0													103.0	76.0	85.0					1																	154456804		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1309C>G	1.37:g.154456804G>C	ENSP00000307369:p.Gln437Glu		Q8TEQ5	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.Q437E	ENST00000304760.2	37	c.1309	CCDS30877.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272891	0.80580	.	.	ENSG00000169291	ENST00000304760	T	0.57107	0.42	5.05	5.05	0.67936	SH2 motif (4);	0.059821	0.64402	D	0.000002	T	0.54127	0.1839	L	0.39326	1.205	0.80722	D	1	D	0.60160	0.987	P	0.61592	0.891	T	0.57997	-0.7714	10	0.72032	D	0.01	-16.2213	15.944	0.79779	0.0:0.0:1.0:0.0	.	437	Q5VZ18	SHE_HUMAN	E	437	ENSP00000307369:Q437E	ENSP00000307369:Q437E	Q	-	1	0	SHE	152723428	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.015000	0.93640	2.614000	0.88457	0.655000	0.94253	CAA	SHE	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000169291		0.458	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHE	HGNC	protein_coding	OTTHUMT00000087910.2	70	0.00	0	G	NM_001010846		154456804	154456804	-1	no_errors	ENST00000304760	ensembl	human	known	69_37n	missense	84	25.66	29	SNP	1.000	C
SHMT2	6472	genome.wustl.edu	37	12	57626534	57626534	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:57626534C>T	ENST00000328923.3	+	7	1217	c.765C>T	c.(763-765)atC>atT	p.I255I	SHMT2_ENST00000414700.3_Silent_p.I234I|SHMT2_ENST00000553474.1_Silent_p.I234I|SHMT2_ENST00000557487.1_Silent_p.I245I|SHMT2_ENST00000393827.4_Silent_p.I159I|SHMT2_ENST00000449049.3_Silent_p.I234I	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	255					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TGGCCCACATCAGTGGCCTGG	0.617																																					Esophageal Squamous(150;1369 2416 49071 49364)	dbGAP											0													57.0	47.0	50.0					12																	57626534		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.765C>T	12.37:g.57626534C>T			B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Nonsense_Mutation	SNP	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.Q55*	ENST00000328923.3	37	c.163	CCDS8934.1	12	.	.	.	.	.	.	.	.	.	.	C	10.02	1.234990	0.22626	.	.	ENSG00000182199	ENST00000557529	.	.	.	4.97	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.4011	12.4828	0.55854	0.0:0.9176:0.0:0.0824	.	.	.	.	X	55	.	.	Q	+	1	0	SHMT2	55912801	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.066000	0.41452	1.472000	0.48140	0.563000	0.77884	CAG	SHMT2	-	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000182199		0.617	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT2	HGNC	protein_coding	OTTHUMT00000412525.2	20	0.00	0	C	NM_005412		57626534	57626534	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000557529	ensembl	human	putative	69_37n	nonsense	9	47.06	8	SNP	1.000	T
SIN3A	25942	genome.wustl.edu	37	15	75703925	75703925	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:75703925G>A	ENST00000394947.3	-	6	1230	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	SIN3A_ENST00000394949.4_Missense_Mutation_p.H306Y|SIN3A_ENST00000360439.4_Missense_Mutation_p.H306Y	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TTGATGGCATGATTAAACTCC	0.478																																						dbGAP											0													205.0	195.0	198.0					15																	75703925		2197	4294	6491	-	-	-	SO:0001583	missense	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.916C>T	15.37:g.75703925G>A	ENSP00000378402:p.His306Tyr			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.H306Y	ENST00000394947.3	37	c.916	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.374433	0.95923	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.57436	0.4;0.4;0.4	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.70506	-0.4853	10	0.49607	T	0.09	-26.648	19.6164	0.95636	0.0:0.0:1.0:0.0	.	306	Q96ST3	SIN3A_HUMAN	Y	306	ENSP00000378402:H306Y;ENSP00000378403:H306Y;ENSP00000353622:H306Y	ENSP00000353622:H306Y	H	-	1	0	SIN3A	73490978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.863000	0.99569	2.871000	0.98454	0.655000	0.94253	CAT	SIN3A	-	superfamily_PAH	ENSG00000169375		0.478	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	87	0.00	0	G	NM_015477		75703925	75703925	-1	no_errors	ENST00000360439	ensembl	human	known	69_37n	missense	99	30.77	44	SNP	1.000	A
SKAP2	8935	genome.wustl.edu	37	7	26778477	26778477	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:26778477C>G	ENST00000345317.2	-	6	719	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q	SKAP2_ENST00000539623.1_5'UTR|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	136	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TTCTGCCATTCAAATCCCAGA	0.338																																						dbGAP											0													101.0	101.0	101.0					7																	26778477		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.406G>C	7.37:g.26778477C>G	ENSP00000005587:p.Glu136Gln		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,prints_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain	p.E136Q	ENST00000345317.2	37	c.406	CCDS5400.1	7	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439030	0.83885	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.75154	-0.91;2.74	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.83737	0.5319	L	0.54863	1.705	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.974	D	0.84408	0.0564	10	0.66056	D	0.02	-17.1122	16.7512	0.85487	0.0:1.0:0.0:0.0	.	121;136	B7Z5N4;O75563	.;SKAP2_HUMAN	Q	136;121;121	ENSP00000005587:E136Q;ENSP00000408163:E121Q	ENSP00000005587:E136Q	E	-	1	0	SKAP2	26745002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.032000	0.70918	2.696000	0.92011	0.561000	0.74099	GAA	SKAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000005020		0.338	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP2	HGNC	protein_coding	OTTHUMT00000214128.1	85	0.00	0	C			26778477	26778477	-1	no_errors	ENST00000345317	ensembl	human	known	69_37n	missense	62	42.06	45	SNP	1.000	G
SKIDA1	387640	genome.wustl.edu	37	10	21805329	21805329	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:21805329G>C	ENST00000449193.2	-	4	3675	c.1423C>G	c.(1423-1425)Ccc>Gcc	p.P475A	SKIDA1_ENST00000444772.3_Missense_Mutation_p.P396A	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	394						nucleus (GO:0005634)											TGCACGCTGGGAGGCTTGCAG	0.642																																						dbGAP											0													29.0	33.0	32.0					10																	21805329		2068	4211	6279	-	-	-	SO:0001583	missense	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1423C>G	10.37:g.21805329G>C	ENSP00000410041:p.Pro475Ala		B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.P475A	ENST00000449193.2	37	c.1423	CCDS44363.1	10	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587329	0.46110	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.28	4.37	0.52481	.	0.400968	0.25490	N	0.030309	T	0.45094	0.1325	N	0.20986	0.625	0.39728	D	0.971567	B	0.21606	0.058	B	0.17098	0.017	T	0.45512	-0.9256	9	0.87932	D	0	-28.7571	14.0489	0.64722	0.0:0.288:0.712:0.0	.	475	E9PAX1	.	A	475;396	.	ENSP00000442432:P396A	P	-	1	0	C10orf140	21845335	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	2.436000	0.44819	1.205000	0.43262	0.555000	0.69702	CCC	SKIDA1	-	NULL	ENSG00000180592		0.642	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	15	0.00	0	G	NM_207371		21805329	21805329	-1	no_errors	ENST00000449193	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	C
SLC17A2	10246	genome.wustl.edu	37	6	25917065	25917065	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:25917065G>C	ENST00000265425.3	-	7	798	c.778C>G	c.(778-780)Cct>Gct	p.P260A	SLC17A2_ENST00000377850.3_Missense_Mutation_p.P260A|SLC17A2_ENST00000360488.3_Missense_Mutation_p.P260A			O00624	NPT3_HUMAN	solute carrier family 17, member 2	260					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCGTCCAGGAGAACTGGGC	0.507																																						dbGAP											0													80.0	76.0	78.0					6																	25917065		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.778C>G	6.37:g.25917065G>C	ENSP00000265425:p.Pro260Ala		A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P260A	ENST00000265425.3	37	c.778		6	.	.	.	.	.	.	.	.	.	.	G	9.934	1.215674	0.22373	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.59364	0.27;0.27;0.27	4.47	3.6	0.41247	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.115763	0.39687	N	0.001299	T	0.26376	0.0644	L	0.34521	1.04	0.29372	N	0.863937	P;P;P	0.40909	0.629;0.629;0.732	B;B;B	0.44044	0.439;0.439;0.343	T	0.09773	-1.0659	10	0.12103	T	0.63	.	8.5108	0.33215	0.1062:0.0:0.8938:0.0	.	260;260;260	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	A	260	ENSP00000353677:P260A;ENSP00000367081:P260A;ENSP00000265425:P260A	ENSP00000265425:P260A	P	-	1	0	SLC17A2	26025044	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	2.884000	0.48562	1.222000	0.43521	-0.251000	0.11542	CCT	SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000112337		0.507	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	48	0.00	0	G			25917065	25917065	-1	no_errors	ENST00000377850	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	0.998	C
SLC17A2	10246	genome.wustl.edu	37	6	25924049	25924049	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:25924049C>G	ENST00000265425.3	-	2	134	c.114G>C	c.(112-114)ctG>ctC	p.L38L	SLC17A2_ENST00000377850.3_Silent_p.L38L|SLC17A2_ENST00000360488.3_Silent_p.L38L			O00624	NPT3_HUMAN	solute carrier family 17, member 2	38					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TCGCAATGCTCAGACTCACAC	0.488																																						dbGAP											0													193.0	171.0	179.0					6																	25924049		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.114G>C	6.37:g.25924049C>G			A6NK81|A6NLD6|Q5TB84|Q76P85	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L38	ENST00000265425.3	37	c.114		6																																																																																			SLC17A2	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000112337		0.488	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	126	0.00	0	C			25924049	25924049	-1	no_errors	ENST00000377850	ensembl	human	known	69_37n	silent	60	37.50	36	SNP	0.935	G
SLC17A5	26503	genome.wustl.edu	37	6	74331664	74331664	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:74331664G>A	ENST00000355773.5	-	7	1109	c.841C>T	c.(841-843)Ccg>Tcg	p.P281S	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	281					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTACCCACGGCACTGACTTC	0.378																																						dbGAP											0													69.0	67.0	68.0					6																	74331664		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.841C>T	6.37:g.74331664G>A	ENSP00000348019:p.Pro281Ser		Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P281S	ENST00000355773.5	37	c.841	CCDS4981.1	6	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899407	0.91962	.	.	ENSG00000119899	ENST00000355773	T	0.59224	0.28	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86071	0.1538	10	0.87932	D	0	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	343;281	E1P537;Q9NRA2	.;S17A5_HUMAN	S	281	ENSP00000348019:P281S	ENSP00000348019:P281S	P	-	1	0	SLC17A5	74388385	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.255000	0.95524	2.809000	0.96659	0.555000	0.69702	CCG	SLC17A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119899		0.378	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A5	HGNC	protein_coding	OTTHUMT00000041228.1	16	0.00	0	G			74331664	74331664	-1	no_errors	ENST00000355773	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	A
SLC22A13	9390	genome.wustl.edu	37	3	38317565	38317565	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:38317565C>T	ENST00000311856.4	+	7	1264	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	405					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGATGTGTATCATCATCATCT	0.592																																						dbGAP											0													78.0	53.0	61.0					3																	38317565		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1215C>T	3.37:g.38317565C>T			B2RCV9|Q8IYG1	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I405	ENST00000311856.4	37	c.1215	CCDS2676.1	3																																																																																			SLC22A13	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000172940		0.592	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	HGNC	protein_coding	OTTHUMT00000253746.2	50	0.00	0	C	NM_004256		38317565	38317565	+1	no_errors	ENST00000311856	ensembl	human	known	69_37n	silent	40	27.27	15	SNP	0.001	T
SLC24A3	57419	genome.wustl.edu	37	20	19665825	19665825	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:19665825G>A	ENST00000328041.6	+	12	1341	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	382					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCACACCGTGGAGAATGGGAC	0.527																																						dbGAP											0													94.0	92.0	93.0					20																	19665825		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1144G>A	20.37:g.19665825G>A	ENSP00000333519:p.Glu382Lys		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.E382K	ENST00000328041.6	37	c.1144	CCDS13140.1	20	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980944	0.74474	.	.	ENSG00000185052	ENST00000328041	T	0.61742	0.08	5.83	4.87	0.63330	.	0.152372	0.56097	D	0.000026	T	0.57681	0.2070	L	0.61387	1.9	0.58432	D	0.999999	B	0.32245	0.361	B	0.34590	0.186	T	0.55817	-0.8081	9	.	.	.	.	16.5475	0.84450	0.0:0.1309:0.8691:0.0	.	382	Q9HC58	NCKX3_HUMAN	K	382	ENSP00000333519:E382K	.	E	+	1	0	SLC24A3	19613825	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.982000	0.88131	1.436000	0.47453	0.563000	0.77884	GAG	SLC24A3	-	tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000185052		0.527	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	89	0.00	0	G	NM_020689		19665825	19665825	+1	no_errors	ENST00000328041	ensembl	human	known	69_37n	missense	56	39.13	36	SNP	1.000	A
SLC30A9	10463	genome.wustl.edu	37	4	42020150	42020150	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:42020150C>G	ENST00000264451.7	+	3	477	c.297C>G	c.(295-297)ctC>ctG	p.L99L		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	99					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCACAGAACTCAAAGCTCCAC	0.269																																						dbGAP											0													39.0	41.0	40.0					4																	42020150		2202	4292	6494	-	-	-	SO:0001819	synonymous_variant	0			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.297C>G	4.37:g.42020150C>G			Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP	pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux	p.L99	ENST00000264451.7	37	c.297	CCDS3465.1	4																																																																																			SLC30A9	-	NULL	ENSG00000014824		0.269	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A9	HGNC	protein_coding	OTTHUMT00000216842.3	31	0.00	0	C			42020150	42020150	+1	no_errors	ENST00000264451	ensembl	human	known	69_37n	silent	10	66.67	20	SNP	0.997	G
SLC38A1	81539	genome.wustl.edu	37	12	46591533	46591533	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:46591533C>G	ENST00000398637.5	-	16	2026	c.1332G>C	c.(1330-1332)caG>caC	p.Q444H	SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000552197.1_Missense_Mutation_p.Q444H|SLC38A1_ENST00000439706.1_Missense_Mutation_p.Q444H|SLC38A1_ENST00000549049.1_Missense_Mutation_p.Q444H|SLC38A1_ENST00000546893.1_Missense_Mutation_p.Q444H	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	444					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TATCTCCATCCTGGTCTGTGA	0.318																																						dbGAP											0													141.0	146.0	144.0					12																	46591533		1806	4082	5888	-	-	-	SO:0001583	missense	0			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1332G>C	12.37:g.46591533C>G	ENSP00000381634:p.Gln444His		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.Q444H	ENST00000398637.5	37	c.1332	CCDS41774.1	12	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353870	0.61293	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02345	4.33;4.33;4.33;4.33;4.33	5.95	-0.621	0.11564	.	.	.	.	.	T	0.03959	0.0111	L	0.27053	0.805	0.32700	N	0.512979	P;P	0.51791	0.948;0.943	P;P	0.54174	0.54;0.744	T	0.48387	-0.9040	9	0.46703	T	0.11	-0.4846	6.3089	0.21154	0.0:0.4515:0.1211:0.4274	.	444;444	F8VX04;Q9H2H9	.;S38A1_HUMAN	H	444	ENSP00000449607:Q444H;ENSP00000398142:Q444H;ENSP00000381634:Q444H;ENSP00000447853:Q444H;ENSP00000449756:Q444H	ENSP00000381634:Q444H	Q	-	3	2	SLC38A1	44877800	0.991000	0.36638	0.997000	0.53966	0.969000	0.65631	0.126000	0.15769	0.092000	0.17331	-0.781000	0.03364	CAG	SLC38A1	-	pfam_AA_transpt_TM	ENSG00000111371		0.318	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	267	0.00	0	C			46591533	46591533	-1	no_errors	ENST00000398637	ensembl	human	known	69_37n	missense	137	33.17	68	SNP	0.897	G
SLC38A5	92745	genome.wustl.edu	37	X	48317388	48317388	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:48317388G>T	ENST00000376876.3	-	16	2193	c.1350C>A	c.(1348-1350)ttC>ttA	p.F450L	SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000317669.5_Missense_Mutation_p.F450L|SLC38A5_ENST00000376875.1_Missense_Mutation_p.F399L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	450					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TGACGGCCATGAAGAGGACTC	0.602																																						dbGAP											0													49.0	41.0	44.0					X																	48317388		2202	4292	6494	-	-	-	SO:0001583	missense	0			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1350C>A	X.37:g.48317388G>T	ENSP00000366073:p.Phe450Leu		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.F450L	ENST00000376876.3	37	c.1350	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	g	12.21	1.869902	0.33069	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.01613	4.73;4.73;4.73	5.08	4.2	0.49525	.	0.050969	0.85682	D	0.000000	T	0.03305	0.0096	L	0.55103	1.725	0.53005	D	0.999968	B	0.27823	0.19	B	0.40375	0.327	T	0.50676	-0.8800	10	0.30078	T	0.28	.	7.6285	0.28226	0.202:0.0:0.798:0.0	.	450	Q8WUX1	S38A5_HUMAN	L	450;399;450	ENSP00000366073:F450L;ENSP00000366071:F399L;ENSP00000313740:F450L	ENSP00000313740:F450L	F	-	3	2	SLC38A5	48202332	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	3.790000	0.55461	2.102000	0.63906	0.523000	0.50628	TTC	SLC38A5	-	pfam_AA_transpt_TM	ENSG00000017483		0.602	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	79	0.00	0	G	NM_033518		48317388	48317388	-1	no_errors	ENST00000317669	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	T
SLC38A6	145389	genome.wustl.edu	37	14	61482670	61482670	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:61482670G>A	ENST00000267488.4	+	4	475	c.359G>A	c.(358-360)gGa>gAa	p.G120E	SLC38A6_ENST00000354886.2_Missense_Mutation_p.G120E|SLC38A6_ENST00000456840.2_Missense_Mutation_p.G97E	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	120					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GGATTACCTGGAAAGGTAATT	0.328																																						dbGAP											0													133.0	130.0	131.0					14																	61482670		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.359G>A	14.37:g.61482670G>A	ENSP00000267488:p.Gly120Glu		C9JWA6|Q86SY5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.G120E	ENST00000267488.4	37	c.359	CCDS9751.1	14	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388689	0.82902	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000526105	T;T;T;T;T	0.02631	4.22;4.22;4.22;4.22;4.22	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	M	0.89715	3.055	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.00487	-1.1710	10	0.87932	D	0	-1.7766	17.5268	0.87802	0.0:0.0:1.0:0.0	.	97;120;120	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	E	120;120;115;97;66	ENSP00000346959:G120E;ENSP00000267488:G120E;ENSP00000395851:G115E;ENSP00000413863:G97E;ENSP00000451244:G66E	ENSP00000267488:G120E	G	+	2	0	SLC38A6	60552423	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.551000	0.67274	2.822000	0.97130	0.650000	0.86243	GGA	SLC38A6	-	pfam_AA_transpt_TM	ENSG00000139974		0.328	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A6	HGNC	protein_coding	OTTHUMT00000276957.1	94	0.00	0	G			61482670	61482670	+1	no_errors	ENST00000354886	ensembl	human	known	69_37n	missense	134	33.66	68	SNP	1.000	A
SLC4A1AP	22950	genome.wustl.edu	37	2	27898467	27898467	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:27898467C>T	ENST00000326019.6	+	6	1696	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	472						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGACACATTTCTTGATAGGAC	0.388																																						dbGAP											0													108.0	111.0	110.0					2																	27898467		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1414C>T	2.37:g.27898467C>T	ENSP00000323837:p.Leu472Phe		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.L472F	ENST00000326019.6	37	c.1414	CCDS33166.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.116277	0.94339	.	.	ENSG00000163798	ENST00000326019	T	0.39229	1.09	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	L	0.49350	1.555	0.80722	D	1	D	0.56035	0.974	P	0.55011	0.766	T	0.47959	-0.9076	10	0.39692	T	0.17	-10.2284	19.5643	0.95386	0.0:1.0:0.0:0.0	.	472	Q9BWU0	NADAP_HUMAN	F	472	ENSP00000323837:L472F	ENSP00000323837:L472F	L	+	1	0	SLC4A1AP	27751971	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.231000	0.78106	2.639000	0.89480	0.555000	0.69702	CTT	SLC4A1AP	-	NULL	ENSG00000163798		0.388	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1AP	HGNC	protein_coding	OTTHUMT00000324550.1	58	0.00	0	C	NM_018158		27898467	27898467	+1	no_errors	ENST00000326019	ensembl	human	known	69_37n	missense	59	41.00	41	SNP	1.000	T
SLC9A2	6549	genome.wustl.edu	37	2	103324815	103324815	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:103324815C>G	ENST00000233969.2	+	12	2448	c.2306C>G	c.(2305-2307)tCt>tGt	p.S769C		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	769					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCCCTTCTCTCTAAAGACCAG	0.592																																						dbGAP											0													114.0	121.0	119.0					2																	103324815		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2306C>G	2.37:g.103324815C>G	ENSP00000233969:p.Ser769Cys		B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S769C	ENST00000233969.2	37	c.2306	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191379	0.58017	.	.	ENSG00000115616	ENST00000233969	T	0.60920	0.15	5.77	5.77	0.91146	.	0.655088	0.14050	N	0.344857	T	0.55146	0.1902	N	0.19112	0.55	0.34284	D	0.682463	D	0.55172	0.97	P	0.49708	0.62	T	0.66740	-0.5847	10	0.72032	D	0.01	.	17.145	0.86764	0.0:1.0:0.0:0.0	.	769	Q9UBY0	SL9A2_HUMAN	C	769	ENSP00000233969:S769C	ENSP00000233969:S769C	S	+	2	0	SLC9A2	102691247	0.999000	0.42202	1.000000	0.80357	0.426000	0.31534	4.502000	0.60400	2.712000	0.92718	0.650000	0.86243	TCT	SLC9A2	-	NULL	ENSG00000115616		0.592	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	148	0.00	0	C			103324815	103324815	+1	no_errors	ENST00000233969	ensembl	human	known	69_37n	missense	47	40.51	32	SNP	1.000	G
SLCO1B1	10599	genome.wustl.edu	37	12	21294573	21294573	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:21294573G>C	ENST00000256958.2	+	2	161	c.65G>C	c.(64-66)aGa>aCa	p.R22T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	22					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	AAGAAAACAAGATACTGCAAT	0.284																																						dbGAP											0													75.0	76.0	75.0					12																	21294573		2203	4292	6495	-	-	-	SO:0001583	missense	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.65G>C	12.37:g.21294573G>C	ENSP00000256958:p.Arg22Thr		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R22T	ENST00000256958.2	37	c.65	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	.	5.423	0.263278	0.10294	.	.	ENSG00000134538	ENST00000256958	T	0.58797	0.31	3.52	-0.00407	0.14023	Major facilitator superfamily domain, general substrate transporter (1);	1.171560	0.06489	N	0.734257	T	0.46249	0.1383	L	0.55834	1.745	0.09310	N	1	B	0.22211	0.066	B	0.17098	0.017	T	0.23261	-1.0193	10	0.22109	T	0.4	.	2.7636	0.05314	0.2809:0.0:0.5061:0.2129	.	22	Q9Y6L6	SO1B1_HUMAN	T	22	ENSP00000256958:R22T	ENSP00000256958:R22T	R	+	2	0	SLCO1B1	21185840	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.090000	0.11163	-0.016000	0.14127	0.650000	0.86243	AGA	SLCO1B1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000134538		0.284	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	51	0.00	0	G	NM_006446		21294573	21294573	+1	no_errors	ENST00000256958	ensembl	human	known	69_37n	missense	62	25.30	21	SNP	0.000	C
SLCO4C1	353189	genome.wustl.edu	37	5	101572691	101572691	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:101572691G>A	ENST00000310954.6	-	13	2332	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAAATCCATTGAAGAACATGG	0.303																																						dbGAP											0													86.0	81.0	83.0					5																	101572691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.2046C>T	5.37:g.101572691G>A				Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F682	ENST00000310954.6	37	c.2046	CCDS34205.1	5																																																																																			SLCO4C1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000173930		0.303	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4C1	HGNC	protein_coding	OTTHUMT00000370332.1	61	0.00	0	G	NM_180991		101572691	101572691	-1	no_errors	ENST00000310954	ensembl	human	known	69_37n	silent	51	48.48	48	SNP	1.000	A
SLFN13	146857	genome.wustl.edu	37	17	33772305	33772305	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:33772305G>A	ENST00000285013.6	-	3	670	c.395C>T	c.(394-396)tCt>tTt	p.S132F	SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.S132F|SLFN13_ENST00000526861.1_Missense_Mutation_p.S132F|SLFN13_ENST00000533791.1_Missense_Mutation_p.S132F|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	132						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTATAATGAAGAACTAAGGCT	0.388																																						dbGAP											0													56.0	58.0	57.0					17																	33772305		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.395C>T	17.37:g.33772305G>A	ENSP00000285013:p.Ser132Phe		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.S132F	ENST00000285013.6	37	c.395	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053075	0.36181	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635	T;T;T	0.02763	4.17;4.17;4.17	3.39	2.4	0.29515	.	0.424346	0.17536	N	0.170700	T	0.05044	0.0135	M	0.80616	2.505	0.09310	N	1	B	0.32693	0.38	B	0.32533	0.147	T	0.19321	-1.0309	10	0.87932	D	0	.	5.8561	0.18720	0.1481:0.0:0.8519:0.0	.	132	Q68D06	SLN13_HUMAN	F	132	ENSP00000285013:S132F;ENSP00000434439:S132F;ENSP00000444016:S132F	ENSP00000285013:S132F	S	-	2	0	SLFN13	30796418	0.340000	0.24792	0.000000	0.03702	0.333000	0.28666	3.800000	0.55537	1.876000	0.54355	0.514000	0.50259	TCT	SLFN13	-	NULL	ENSG00000154760		0.388	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	23	0.00	0	G	NM_144682		33772305	33772305	-1	no_errors	ENST00000285013	ensembl	human	known	69_37n	missense	8	65.22	15	SNP	0.000	A
SMAD4	4089	genome.wustl.edu	37	18	48584560	48584560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr18:48584560C>T	ENST00000342988.3	+	6	1271	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q245*|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	245					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.Q245*(7)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATCAGGGCCTCAGCCAGGACA	0.428																																						dbGAP											45	Whole gene deletion(36)|Substitution - Nonsense(7)|Unknown(2)	pancreas(30)|upper_aerodigestive_tract(4)|stomach(3)|breast(3)|large_intestine(2)|lung(2)|oesophagus(1)											91.0	85.0	87.0					18																	48584560		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.733C>T	18.37:g.48584560C>T	ENSP00000341551:p.Gln245*		A8K405	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.Q245*	ENST00000342988.3	37	c.733	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	39	7.763488	0.98477	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.76	5.76	0.90799	.	0.261125	0.39407	N	0.001362	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	19.0946	0.93244	0.0:1.0:0.0:0.0	.	.	.	.	X	245	.	ENSP00000341551:Q245X	Q	+	1	0	SMAD4	46838558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.003000	0.57061	2.882000	0.98803	0.655000	0.94253	CAG	SMAD4	-	NULL	ENSG00000141646		0.428	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	99	0.00	0	C	NM_005359		48584560	48584560	+1	no_errors	ENST00000342988	ensembl	human	known	69_37n	nonsense	16	72.41	42	SNP	1.000	T
SMARCA1	6594	genome.wustl.edu	37	X	128632007	128632007	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:128632007G>A	ENST00000371122.4	-	11	1448	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F	SMARCA1_ENST00000371121.3_Missense_Mutation_p.S440F|SMARCA1_ENST00000371123.1_Missense_Mutation_p.S440F	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	440					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTTGCCAGAAGAGTTTAAAAC	0.318																																						dbGAP											0													74.0	65.0	68.0					X																	128632007		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1319C>T	X.37:g.128632007G>A	ENSP00000360163:p.Ser440Phe		Q5JV41|Q5JV42	Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S440F	ENST00000371122.4	37	c.1319	CCDS14612.1	X	.	.	.	.	.	.	.	.	.	.	g	23.7	4.445635	0.84101	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.64	4.64	0.57946	SNF2-related (1);	0.000000	0.64402	U	0.000020	D	0.83533	0.5275	M	0.70787	2.145	0.80722	D	1	P;P;P;P	0.45531	0.86;0.86;0.831;0.86	P;P;P;P	0.57009	0.811;0.811;0.712;0.811	D	0.86167	0.1597	10	0.87932	D	0	-11.741	16.9538	0.86252	0.0:0.0:1.0:0.0	.	419;440;440;440	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	F	440;440;440;419	ENSP00000360162:S440F;ENSP00000360164:S440F;ENSP00000360163:S440F;ENSP00000404275:S419F	ENSP00000360162:S440F	S	-	2	0	SMARCA1	128459688	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.761000	0.98940	1.919000	0.55581	0.274000	0.19336	TCT	SMARCA1	-	pfam_SNF2_N	ENSG00000102038		0.318	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	69	0.00	0	G	NM_003069		128632007	128632007	-1	no_errors	ENST00000371122	ensembl	human	known	69_37n	missense	47	30.88	21	SNP	1.000	A
SMARCA1	6594	genome.wustl.edu	37	X	128638729	128638729	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:128638729G>A	ENST00000371122.4	-	9	1278	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	SMARCA1_ENST00000371121.3_Silent_p.L383L|SMARCA1_ENST00000371123.1_Silent_p.L383L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	383					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GTCTTTCCACGAGTTTTTGAT	0.343																																						dbGAP											0													162.0	152.0	155.0					X																	128638729		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1149C>T	X.37:g.128638729G>A			Q5JV41|Q5JV42	Silent	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L383	ENST00000371122.4	37	c.1149	CCDS14612.1	X																																																																																			SMARCA1	-	pfam_SNF2_N	ENSG00000102038		0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	196	0.00	0	G	NM_003069		128638729	128638729	-1	no_errors	ENST00000371122	ensembl	human	known	69_37n	silent	117	33.90	60	SNP	0.998	A
SMARCA4	6597	genome.wustl.edu	37	19	11141449	11141449	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:11141449C>A	ENST00000429416.3	+	26	3707	c.3426C>A	c.(3424-3426)ttC>ttA	p.F1142L	SMARCA4_ENST00000541122.2_Missense_Mutation_p.F1142L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.F1142L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.F1142L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.F1142L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.F1142L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.F1142L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.F1142L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.F1142L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1142	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGAAAACCTTCAACGAGCCCG	0.612			"""F, N, Mis"""		NSCLC																																	dbGAP		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											37.0	40.0	39.0					19																	11141449		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3426C>A	19.37:g.11141449C>A	ENSP00000395654:p.Phe1142Leu		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.F1142L	ENST00000429416.3	37	c.3426	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178509	0.78564	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	4.59	3.55	0.40652	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95211	0.8447	H	0.95539	3.685	0.52501	D	0.999958	D;D;D;D;D;D;D;D	0.89917	0.995;0.995;0.995;0.997;0.999;1.0;0.995;0.995	D;D;D;D;D;D;D;D	0.85130	0.983;0.983;0.983;0.976;0.997;0.997;0.983;0.983	D	0.94418	0.7638	10	0.87932	D	0	-36.8786	7.5927	0.28029	0.0:0.7983:0.0:0.2017	.	1142;1142;1142;1142;1142;362;1142;1142	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	L	1142;1142;1206;1142;1142;1142;1142;1142	ENSP00000395654:F1142L;ENSP00000350720:F1142L;ENSP00000343896:F1142L;ENSP00000445036:F1142L;ENSP00000392837:F1142L;ENSP00000397783:F1142L;ENSP00000414727:F1142L	ENSP00000343896:F1142L	F	+	3	2	SMARCA4	11002449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.773000	0.38563	1.130000	0.42092	0.563000	0.77884	TTC	SMARCA4	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000127616		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	19	0.00	0	C	NM_003072		11141449	11141449	+1	no_errors	ENST00000358026	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	A
SMNDC1	10285	genome.wustl.edu	37	10	112063272	112063272	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:112063272C>T	ENST00000369603.5	-	2	277	c.74G>A	c.(73-75)gGa>gAa	p.G25E	SMNDC1_ENST00000471297.1_5'UTR|SMNDC1_ENST00000369592.1_Missense_Mutation_p.G25E	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	25					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		TTCTCCATTTCCAGATAATGC	0.358																																						dbGAP											0													90.0	93.0	92.0					10																	112063272		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083385	CCDS7565.1	10q23	2013-01-23			ENSG00000119953	ENSG00000119953		"""Tudor domain containing"""	16900	protein-coding gene	gene with protein product	"""splicing factor 30, survival of motor neuron-related"", ""tudor domain containing 16C"""	603519				9731529, 9817934	Standard	NM_005871		Approved	SPF30, SMNR, TDRD16C	uc001kzc.4	O75940	OTTHUMG00000019036	ENST00000369603.5:c.74G>A	10.37:g.112063272C>T	ENSP00000358616:p.Gly25Glu		B2RA27|D3DRB1|Q5T3K6	Missense_Mutation	SNP	pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor	p.G25E	ENST00000369603.5	37	c.74	CCDS7565.1	10	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029682	0.54790	.	.	ENSG00000119953	ENST00000369603;ENST00000369592	D;D	0.86230	-2.09;-2.09	5.83	5.83	0.93111	.	0.235594	0.43919	D	0.000514	T	0.77110	0.4082	N	0.14661	0.345	0.47778	D	0.999516	B	0.23058	0.079	B	0.20955	0.032	T	0.71663	-0.4525	10	0.18710	T	0.47	-9.4818	15.5852	0.76475	0.0:0.8629:0.137:0.0	.	25	O75940	SPF30_HUMAN	E	25	ENSP00000358616:G25E;ENSP00000358605:G25E	ENSP00000358605:G25E	G	-	2	0	SMNDC1	112053262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.861000	0.62969	2.760000	0.94817	0.563000	0.77884	GGA	SMNDC1	-	NULL	ENSG00000119953		0.358	SMNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMNDC1	HGNC	protein_coding	OTTHUMT00000050325.2	41	0.00	0	C	NM_005871		112063272	112063272	-1	no_errors	ENST00000369592	ensembl	human	known	69_37n	missense	77	40.31	52	SNP	1.000	T
SMO	6608	genome.wustl.edu	37	7	128846408	128846408	+	Missense_Mutation	SNP	G	G	C	rs370601251		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:128846408G>C	ENST00000249373.3	+	6	1524	c.1244G>C	c.(1243-1245)gGa>gCa	p.G415A		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	415					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CTCATCGTGGGAGGCTACTTC	0.572			Mis		skin basal cell																																	dbGAP		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													177.0	152.0	160.0					7																	128846408		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1244G>C	7.37:g.128846408G>C	ENSP00000249373:p.Gly415Ala		A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.G415A	ENST00000249373.3	37	c.1244	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629633	0.87660	.	.	ENSG00000128602	ENST00000249373	D	0.92048	-2.96	5.29	5.29	0.74685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.96002	0.8698	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.91635	0.999;0.739	D	0.96024	0.9011	10	0.56958	D	0.05	.	17.9129	0.88939	0.0:0.0:1.0:0.0	.	415;415	A4D1K5;Q99835	.;SMO_HUMAN	A	415	ENSP00000249373:G415A	ENSP00000249373:G415A	G	+	2	0	SMO	128633644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.486000	0.83907	0.561000	0.74099	GGA	SMO	-	pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000128602		0.572	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	95	0.00	0	G	NM_005631		128846408	128846408	+1	no_errors	ENST00000249373	ensembl	human	known	69_37n	missense	26	44.68	21	SNP	1.000	C
SNAP91	9892	genome.wustl.edu	37	6	84311005	84311005	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:84311005C>G	ENST00000439399.2	-	16	1625	c.1309G>C	c.(1309-1311)Gtg>Ctg	p.V437L	SNAP91_ENST00000369694.2_Missense_Mutation_p.V437L|SNAP91_ENST00000521485.1_Missense_Mutation_p.V437L|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521743.1_Missense_Mutation_p.V437L|SNAP91_ENST00000195649.6_Missense_Mutation_p.V437L|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000428679.2_Missense_Mutation_p.V437L|SNAP91_ENST00000520302.1_Missense_Mutation_p.V435L	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	437	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAGAGATCCACTTCAGCAGTG	0.413																																						dbGAP											0													106.0	101.0	103.0					6																	84311005		1926	4131	6057	-	-	-	SO:0001583	missense	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1309G>C	6.37:g.84311005C>G	ENSP00000400459:p.Val437Leu		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.V437L	ENST00000439399.2	37	c.1309	CCDS47455.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.870252|1.870252	0.33069|0.33069	.|.	.|.	ENSG00000065609|ENSG00000065609	ENST00000369691|ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888	.|T;T;T;T;T;T;T	.|0.14640	.|2.49;2.5;2.5;2.49;2.5;2.51;2.5	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.317330	.|0.34200	.|N	.|0.004171	T|T	0.07593|0.07593	0.0191|0.0191	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.22080	.|0.064;0.001;0.064	.|B;B;B	.|0.12837	.|0.008;0.001;0.008	T|T	0.14090|0.14090	-1.0485|-1.0485	5|10	.|0.09084	.|T	.|0.74	-9.8757|-9.8757	19.5402|19.5402	0.95271|0.95271	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|435;437;435	.|E5RI02;O60641;E1P549	.|.;AP180_HUMAN;.	T|L	96|437;437;437;437;437;435;437;163	.|ENSP00000429776:V437L;ENSP00000358708:V437L;ENSP00000400459:V437L;ENSP00000195649:V437L;ENSP00000412492:V437L;ENSP00000428511:V435L;ENSP00000428215:V437L	.|ENSP00000195649:V437L	S|V	-|-	2|1	0|0	SNAP91|SNAP91	84367724|84367724	0.978000|0.978000	0.34361|0.34361	0.964000|0.964000	0.40570|0.40570	0.988000|0.988000	0.76386|0.76386	2.343000|2.343000	0.44001|0.44001	2.628000|2.628000	0.89032|0.89032	0.563000|0.563000	0.77884|0.77884	AGT|GTG	SNAP91	-	NULL	ENSG00000065609		0.413	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	108	0.00	0	C			84311005	84311005	-1	no_errors	ENST00000369694	ensembl	human	known	69_37n	missense	124	40.00	84	SNP	0.989	G
SND1	27044	genome.wustl.edu	37	7	127724814	127724814	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:127724814G>T	ENST00000354725.3	+	19	2343	c.2149G>T	c.(2149-2151)Gac>Tac	p.D717Y	MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	717					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CATGCGCAATGACATTGCCAG	0.572																																						dbGAP											0													102.0	87.0	92.0					7																	127724814		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2149G>T	7.37:g.127724814G>T	ENSP00000346762:p.Asp717Tyr		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.D717Y	ENST00000354725.3	37	c.2149	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754274	0.69648	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T;T	0.08008	3.14;3.14	5.52	5.52	0.82312	Maternal tudor protein (1);	0.047459	0.85682	D	0.000000	T	0.09774	0.0240	N	0.16708	0.43	0.80722	D	1	P	0.49961	0.93	P	0.53988	0.739	T	0.06338	-1.0832	10	0.02654	T	1	-30.7195	16.9341	0.86199	0.0:0.0:1.0:0.0	.	717	Q7KZF4	SND1_HUMAN	Y	717;707;203	ENSP00000346762:D717Y;ENSP00000419327:D203Y	ENSP00000346762:D717Y	D	+	1	0	SND1	127512050	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	9.228000	0.95250	2.586000	0.87340	0.561000	0.74099	GAC	SND1	-	pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN	ENSG00000197157		0.572	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	26	0.00	0	G	NM_014390		127724814	127724814	+1	no_errors	ENST00000354725	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	1.000	T
SNRNP200	23020	genome.wustl.edu	37	2	96944572	96944572	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:96944572C>T	ENST00000323853.5	-	37	5375	c.5298G>A	c.(5296-5298)caG>caA	p.Q1766Q	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1766					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AATTGGGGTTCTGTGTCATGC	0.527																																						dbGAP											0													137.0	118.0	124.0					2																	96944572		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5298G>A	2.37:g.96944572C>T			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1766	ENST00000323853.5	37	c.5298	CCDS2020.1	2																																																																																			SNRNP200	-	NULL	ENSG00000144028		0.527	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	109	0.00	0	C	NM_014014		96944572	96944572	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	silent	84	38.24	52	SNP	1.000	T
SNRNP48	154007	genome.wustl.edu	37	6	7602900	7602900	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:7602900G>A	ENST00000342415.5	+	6	699	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	214					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AATCCTGGCAGAAGTACGAGA	0.308																																						dbGAP											0													68.0	73.0	71.0					6																	7602900		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.640G>A	6.37:g.7602900G>A	ENSP00000339834:p.Glu214Lys		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.E214K	ENST00000342415.5	37	c.640	CCDS4502.1	6	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694879	0.88830	.	.	ENSG00000168566	ENST00000342415	T	0.36699	1.24	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.79475	2.455	0.58432	D	0.999992	D	0.69078	0.997	D	0.75020	0.985	T	0.57069	-0.7874	10	0.56958	D	0.05	-21.664	15.1567	0.72749	0.0:0.0:1.0:0.0	.	214	Q6IEG0	SNR48_HUMAN	K	214	ENSP00000339834:E214K	ENSP00000339834:E214K	E	+	1	0	SNRNP48	7547899	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	8.780000	0.91799	2.419000	0.82065	0.563000	0.77884	GAA	SNRNP48	-	NULL	ENSG00000168566		0.308	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP48	HGNC	protein_coding	OTTHUMT00000039787.3	46	0.00	0	G	NM_152551		7602900	7602900	+1	no_errors	ENST00000342415	ensembl	human	known	69_37n	missense	43	39.44	28	SNP	1.000	A
SNRPG	6637	genome.wustl.edu	37	2	70516492	70516492	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:70516492C>G	ENST00000272348.2	-	2	166	c.45G>C	c.(43-45)aaG>aaC	p.K15N	SNRPG_ENST00000413456.2_Missense_Mutation_p.K7N|SNRPG_ENST00000482975.2_Missense_Mutation_p.K3N|SNRPG_ENST00000438261.1_Missense_Mutation_p.K3N|SNRPG_ENST00000449935.2_Missense_Mutation_p.K3N|SNRPG_ENST00000429728.1_Intron|SNRPG_ENST00000454893.1_Missense_Mutation_p.K15N	NM_003096.2	NP_003087.1	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	15					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	poly(A) RNA binding (GO:0044822)			endometrium(1)	1						ATGATAACTTCTTGTCCATAA	0.244																																					NSCLC(57;761 1258 15082 39958 48415)	dbGAP											0													24.0	22.0	23.0					2																	70516492		2160	4254	6414	-	-	-	SO:0001583	missense	0			X85373	CCDS1903.1	2p13.3	2011-10-11			ENSG00000143977	ENSG00000143977			11163	protein-coding gene	gene with protein product		603542				7744013	Standard	NM_003096		Approved	Sm-G	uc002sgp.3	P62308	OTTHUMG00000129670	ENST00000272348.2:c.45G>C	2.37:g.70516492C>G	ENSP00000272348:p.Lys15Asn		D6W5G6|Q15357|Q6IB86	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.K15N	ENST00000272348.2	37	c.45	CCDS1903.1	2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337361	0.81911	.	.	ENSG00000143977	ENST00000272348;ENST00000482975;ENST00000438261;ENST00000449935;ENST00000413456;ENST00000454893	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	4.79	4.79	0.61399	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.64402	U	0.000001	T	0.63745	0.2537	.	.	.	0.58432	D	0.999999	D	0.54397	0.966	P	0.58928	0.848	T	0.67734	-0.5594	9	0.87932	D	0	.	15.0438	0.71811	0.0:1.0:0.0:0.0	.	15	P62308	RUXG_HUMAN	N	15;3;3;3;7;15	ENSP00000272348:K15N;ENSP00000441332:K3N;ENSP00000402194:K3N;ENSP00000391403:K3N;ENSP00000416334:K7N;ENSP00000393388:K15N	ENSP00000272348:K15N	K	-	3	2	SNRPG	70369996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.596000	0.46205	2.648000	0.89879	0.561000	0.74099	AAG	SNRPG	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000143977		0.244	SNRPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPG	HGNC	protein_coding	OTTHUMT00000251871.2	58	0.00	0	C			70516492	70516492	-1	no_errors	ENST00000272348	ensembl	human	known	69_37n	missense	58	36.26	33	SNP	1.000	G
SNX25	83891	genome.wustl.edu	37	4	186260571	186260571	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:186260571G>A	ENST00000504273.1	+	11	1755	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Silent_p.E487E			Q9H3E2	SNX25_HUMAN	sorting nexin 25	487					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TCCTAATAGAGAAAGAACGCA	0.428																																						dbGAP											0													83.0	74.0	77.0					4																	186260571		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1461G>A	4.37:g.186260571G>A			Q3ZT30|Q8N6K3	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.E487	ENST00000504273.1	37	c.1461	CCDS34116.1	4																																																																																			SNX25	-	NULL	ENSG00000109762		0.428	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	33	0.00	0	G	NM_031953		186260571	186260571	+1	no_errors	ENST00000264694	ensembl	human	known	69_37n	silent	8	73.33	22	SNP	1.000	A
SOX5	6660	genome.wustl.edu	37	12	23728609	23728609	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:23728609C>G	ENST00000451604.2	-	10	1429	c.1328G>C	c.(1327-1329)aGa>aCa	p.R443T	SOX5_ENST00000546136.1_Missense_Mutation_p.R430T|SOX5_ENST00000396007.2_Missense_Mutation_p.R57T|SOX5_ENST00000545921.1_Missense_Mutation_p.R433T|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000309359.1_Missense_Mutation_p.R430T|SOX5_ENST00000537393.1_Missense_Mutation_p.R408T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	443					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGTGCTAACTCTGGCTGAAGG	0.468																																						dbGAP											0													112.0	110.0	111.0					12																	23728609		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1328G>C	12.37:g.23728609C>G	ENSP00000398273:p.Arg443Thr		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R443T	ENST00000451604.2	37	c.1328	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991333	0.54041	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.69922	0.3165	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;D	0.91635	0.999;0.998;0.985	T	0.67499	-0.5655	10	0.36615	T	0.2	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	408;443;57	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	T	430;430;443;395;408;57;433	ENSP00000437487:R430T;ENSP00000308927:R430T;ENSP00000398273:R443T;ENSP00000439832:R408T;ENSP00000379328:R57T;ENSP00000443520:R433T	ENSP00000308927:R430T	R	-	2	0	SOX5	23619876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.302000	0.65733	2.605000	0.88082	0.591000	0.81541	AGA	SOX5	-	NULL	ENSG00000134532		0.468	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	87	0.00	0	C	NM_006940		23728609	23728609	-1	no_errors	ENST00000451604	ensembl	human	known	69_37n	missense	66	40.00	44	SNP	1.000	G
SPANXN2	494119	genome.wustl.edu	37	X	142795504	142795504	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:142795504C>T	ENST00000370498.1	-	2	927	c.174G>A	c.(172-174)agG>agA	p.R58R		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	58										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTATGCTTCCTGTAGTAAT	0.443																																						dbGAP											0													236.0	204.0	215.0					X																	142795504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.174G>A	X.37:g.142795504C>T			Q0ZNM2	Silent	SNP	pfam_SPANX_prot	p.R58	ENST00000370498.1	37	c.174	CCDS35419.1	X																																																																																			SPANXN2	-	pfam_SPANX_prot	ENSG00000203924		0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN2	HGNC	protein_coding	OTTHUMT00000058621.2	632	0.00	0	C	NM_001009615		142795504	142795504	-1	no_errors	ENST00000370498	ensembl	human	known	69_37n	silent	290	37.82	177	SNP	0.024	T
SPDEF	25803	genome.wustl.edu	37	6	34512079	34512079	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:34512079C>T	ENST00000374037.3	-	2	568	c.154G>A	c.(154-156)Gag>Aag	p.E52K	SPDEF_ENST00000544425.1_Missense_Mutation_p.E52K	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	52					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						AGGCCCTGCTCGGGCGTGGCG	0.687																																						dbGAP											0													35.0	39.0	38.0					6																	34512079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.154G>A	6.37:g.34512079C>T	ENSP00000363149:p.Glu52Lys		B4DWH8|F5H778	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.E52K	ENST00000374037.3	37	c.154	CCDS4794.1	6	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571666	0.86542	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.21191	2.02;2.07	4.97	4.97	0.65823	.	1.051090	0.07527	N	0.911572	T	0.28001	0.0690	L	0.34521	1.04	0.39274	D	0.964431	D;D	0.89917	1.0;0.999	P;P	0.62298	0.9;0.797	T	0.09509	-1.0671	10	0.87932	D	0	.	17.846	0.88730	0.0:1.0:0.0:0.0	.	52;52	F5H778;O95238	.;SPDEF_HUMAN	K	52	ENSP00000363149:E52K;ENSP00000442715:E52K	ENSP00000363149:E52K	E	-	1	0	SPDEF	34620057	0.997000	0.39634	0.985000	0.45067	0.697000	0.40408	3.453000	0.52978	2.286000	0.76751	0.591000	0.81541	GAG	SPDEF	-	NULL	ENSG00000124664		0.687	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDEF	HGNC	protein_coding	OTTHUMT00000040246.1	14	0.00	0	C	NM_012391		34512079	34512079	-1	no_errors	ENST00000374037	ensembl	human	known	69_37n	missense	8	50.00	8	SNP	1.000	T
SPDYE1	285955	genome.wustl.edu	37	7	44040870	44040870	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:44040870C>T	ENST00000258704.3	+	1	383	c.246C>T	c.(244-246)ttC>ttT	p.F82F	AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	82										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						ACAAGGACTTCAACAGTCAGC	0.507																																						dbGAP											0													23.0	19.0	20.0					7																	44040870		1379	2333	3712	-	-	-	SO:0001819	synonymous_variant	0			AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.246C>T	7.37:g.44040870C>T			Q9NTH5	Silent	SNP	pfam_Cell_cycle_regulatory_Spy1	p.F82	ENST00000258704.3	37	c.246	CCDS5475.1	7																																																																																			SPDYE1	-	NULL	ENSG00000136206		0.507	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYE1	HGNC	protein_coding	OTTHUMT00000250974.1	59	0.00	0	C	NM_175064		44040870	44040870	+1	no_errors	ENST00000258704	ensembl	human	known	69_37n	silent	32	41.82	23	SNP	0.106	T
SPG11	80208	genome.wustl.edu	37	15	44881460	44881460	+	Silent	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:44881460G>C	ENST00000261866.7	-	28	4912	c.4896C>G	c.(4894-4896)ctC>ctG	p.L1632L	SPG11_ENST00000535302.2_Silent_p.L1632L|SPG11_ENST00000427534.2_Silent_p.L1632L|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000558319.1_Silent_p.L1632L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1632					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATCAGAGAAGAGATGCTCTC	0.373																																						dbGAP											0													73.0	71.0	72.0					15																	44881460		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4896C>G	15.37:g.44881460G>C			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	NULL	p.L1632	ENST00000261866.7	37	c.4896	CCDS10112.1	15																																																																																			SPG11	-	NULL	ENSG00000104133		0.373	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	25	0.00	0	G			44881460	44881460	-1	no_errors	ENST00000261866	ensembl	human	known	69_37n	silent	16	52.94	18	SNP	1.000	C
SPESP1	246777	genome.wustl.edu	37	15	69238543	69238543	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:69238543G>C	ENST00000310673.3	+	2	824	c.670G>C	c.(670-672)Gat>Cat	p.D224H	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	224					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTGGAATAATGATGACATTTT	0.398																																						dbGAP											0													57.0	61.0	59.0					15																	69238543		2200	4297	6497	-	-	-	SO:0001583	missense	0			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.670G>C	15.37:g.69238543G>C	ENSP00000312284:p.Asp224His		Q8NG22|Q8WVH8	Missense_Mutation	SNP	NULL	p.D224H	ENST00000310673.3	37	c.670	CCDS10230.1	15	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931306	0.52866	.	.	ENSG00000258484	ENST00000310673	T	0.21543	2.0	4.96	0.9	0.19278	.	1.058680	0.07433	N	0.896028	T	0.25938	0.0632	N	0.19112	0.55	0.19945	N	0.999944	D	0.65815	0.995	P	0.61592	0.891	T	0.28933	-1.0028	10	0.72032	D	0.01	-3.418	6.8908	0.24228	0.3846:0.0:0.6154:0.0	.	224	Q6UW49	SPESP_HUMAN	H	224	ENSP00000312284:D224H	ENSP00000312284:D224H	D	+	1	0	SPESP1	67025597	0.182000	0.23173	0.003000	0.11579	0.299000	0.27559	1.078000	0.30754	0.224000	0.20940	0.655000	0.94253	GAT	SPESP1	-	NULL	ENSG00000258484		0.398	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPESP1	HGNC	protein_coding	OTTHUMT00000257125.1	17	0.00	0	G	NM_145658		69238543	69238543	+1	no_errors	ENST00000310673	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.002	C
SPHKAP	80309	genome.wustl.edu	37	2	228881474	228881474	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:228881474C>T	ENST00000392056.3	-	7	4142	c.4096G>A	c.(4096-4098)Gag>Aag	p.E1366K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1366K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1366						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCGAGAGACTCCTGAACAAGC	0.507																																						dbGAP											0													80.0	77.0	78.0					2																	228881474		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4096G>A	2.37:g.228881474C>T	ENSP00000375909:p.Glu1366Lys		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.E1366K	ENST00000392056.3	37	c.4096	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	c	16.51	3.143769	0.57044	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11930	2.73;2.73	5.92	3.16	0.36331	.	0.319161	0.35349	N	0.003271	T	0.23727	0.0574	M	0.63428	1.95	0.29223	N	0.873785	P;P;D	0.56968	0.917;0.78;0.978	B;B;P	0.57009	0.445;0.265;0.811	T	0.04029	-1.0983	10	0.32370	T	0.25	.	8.4725	0.32993	0.0:0.7336:0.1282:0.1382	.	397;1366;1366	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	K	1366	ENSP00000375909:E1366K;ENSP00000339886:E1366K	ENSP00000339886:E1366K	E	-	1	0	SPHKAP	228589718	1.000000	0.71417	0.972000	0.41901	0.020000	0.10135	3.585000	0.53943	0.842000	0.35045	-0.119000	0.15052	GAG	SPHKAP	-	NULL	ENSG00000153820		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	35	0.00	0	C	NM_030623		228881474	228881474	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	10	75.61	31	SNP	1.000	T
SPON1	10418	genome.wustl.edu	37	11	14101542	14101542	+	RNA	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:14101542G>C	ENST00000310358.7	+	0	1186							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ATTGGTCCGAGAAGACACACC	0.473																																						dbGAP											0													123.0	118.0	119.0					11																	14101542		1961	4147	6108	-	-	-			0			AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14101542G>C			A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	-	NULL	ENST00000310358.7	37	NULL		11	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108228	0.77096	.	.	ENSG00000152268	ENST00000310358	.	.	.	6.17	4.0	0.46444	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	.	.	.	0.45150	D	0.998162	P	0.46912	0.886	P	0.49953	0.627	T	0.69390	-0.5158	7	0.45353	T	0.12	.	11.9306	0.52845	0.1621:0.0:0.8379:0.0	.	217	Q9HCB6	SPON1_HUMAN	D	216	.	ENSP00000309297:E216D	E	+	3	2	SPON1	14058118	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.203000	0.51075	1.626000	0.50381	0.655000	0.94253	GAG	SPON1	-	-	ENSG00000152268		0.473	SPON1-201	KNOWN	basic	processed_transcript	SPON1	HGNC	processed_transcript		69	0.00	0	G	NM_145584		14101542	14101542	+1	no_errors	ENST00000310358	ensembl	human	known	69_37n	rna	57	33.72	29	SNP	1.000	C
SPRYD7	57213	genome.wustl.edu	37	13	50502161	50502161	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr13:50502161C>T	ENST00000361840.3	-	3	388	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	SPRYD7_ENST00000378195.2_Missense_Mutation_p.R56Q|SPRYD7_ENST00000492258.1_5'Flank	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	95	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						GTGCATATCTCGGCCAAGAGG	0.418																																						dbGAP											0													145.0	134.0	138.0					13																	50502161		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"""chromosome 13 open reading frame 1"""	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.284G>A	13.37:g.50502161C>T	ENSP00000354774:p.Arg95Gln		A8K3G1|O60648|Q8TBG8|Q96T69	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.R95Q	ENST00000361840.3	37	c.284	CCDS9422.1	13	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422986	0.43020	.	.	ENSG00000123178	ENST00000361840;ENST00000378195	T;T	0.68765	-0.35;-0.35	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	N	0.14661	0.345	0.54753	D	0.999989	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.45293	-0.9271	10	0.13853	T	0.58	-6.9199	19.358	0.94422	0.0:1.0:0.0:0.0	.	95;56;95	B2RE68;Q5W111-2;Q5W111	.;.;SPRY7_HUMAN	Q	95;56	ENSP00000354774:R95Q;ENSP00000367437:R56Q	ENSP00000354774:R95Q	R	-	2	0	SPRYD7	49400162	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.909000	0.63314	2.661000	0.90470	0.655000	0.94253	CGA	SPRYD7	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000123178		0.418	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRYD7	HGNC	protein_coding	OTTHUMT00000044942.2	100	0.00	0	C	NM_020456		50502161	50502161	-1	no_errors	ENST00000361840	ensembl	human	known	69_37n	missense	47	56.88	62	SNP	1.000	T
SPRY2	10253	genome.wustl.edu	37	13	80911485	80911485	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr13:80911485C>T	ENST00000377102.1	-	2	1333	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	SPRY2_ENST00000377104.3_Missense_Mutation_p.R119Q|SPRY2_ENST00000540649.1_Missense_Mutation_p.R119Q			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	119					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CGTACTGCTCCGCGACCCTGA	0.597																																						dbGAP											0													107.0	97.0	100.0					13																	80911485		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.356G>A	13.37:g.80911485C>T	ENSP00000366306:p.Arg119Gln		B2R9J9|Q5T6Z7	Missense_Mutation	SNP	pfam_Sprouty	p.R119Q	ENST00000377102.1	37	c.356	CCDS9463.1	13	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057558	0.36277	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.56776	0.44;0.44;0.44	4.89	4.05	0.47172	.	0.325537	0.32563	N	0.005937	T	0.47432	0.1445	L	0.50333	1.59	0.36974	D	0.893979	B	0.06786	0.001	B	0.01281	0.0	T	0.52719	-0.8538	10	0.56958	D	0.05	.	13.1205	0.59323	0.0:0.9227:0.0:0.0773	.	119	O43597	SPY2_HUMAN	Q	119	ENSP00000366308:R119Q;ENSP00000366306:R119Q;ENSP00000439027:R119Q	ENSP00000366306:R119Q	R	-	2	0	SPRY2	79809486	1.000000	0.71417	0.936000	0.37596	0.994000	0.84299	3.474000	0.53129	1.076000	0.40961	0.561000	0.74099	CGG	SPRY2	-	NULL	ENSG00000136158		0.597	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPRY2	HGNC	protein_coding	OTTHUMT00000045387.1	53	0.00	0	C			80911485	80911485	-1	no_errors	ENST00000377102	ensembl	human	known	69_37n	missense	12	64.71	22	SNP	0.988	T
SRCAP	10847	genome.wustl.edu	37	16	30744671	30744671	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:30744671C>T	ENST00000262518.4	+	28	6583	c.6198C>T	c.(6196-6198)acC>acT	p.T2066T	SRCAP_ENST00000395059.2_Silent_p.T2004T|SRCAP_ENST00000344771.4_Silent_p.T1908T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2066	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCATCTTCACCCAGATGACCC	0.527																																						dbGAP											0													119.0	104.0	109.0					16																	30744671		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6198C>T	16.37:g.30744671C>T			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.T2066	ENST00000262518.4	37	c.6198	CCDS10689.2	16																																																																																			SRCAP	-	pfscan_Helicase_C	ENSG00000080603		0.527	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	55	0.00	0	C	NM_006662		30744671	30744671	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	silent	31	31.11	14	SNP	1.000	T
SSC5D	284297	genome.wustl.edu	37	19	56029541	56029541	+	Missense_Mutation	SNP	C	C	T	rs201038280		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:56029541C>T	ENST00000389623.6	+	14	3921	c.3898C>T	c.(3898-3900)Cac>Tac	p.H1300Y		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1300	Pro-rich.|Thr-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						cacaacccctcaccccaccat	0.642																																						dbGAP											0													251.0	256.0	254.0					19																	56029541		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3898C>T	19.37:g.56029541C>T	ENSP00000374274:p.His1300Tyr		B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.H1300Y	ENST00000389623.6	37	c.3898	CCDS46196.1	19	.	.	.	.	.	.	.	.	.	.	-	10.55	1.380331	0.24944	.	.	ENSG00000179954	ENST00000389623	T	0.01172	5.23	2.81	1.58	0.23477	.	.	.	.	.	T	0.00580	0.0019	N	0.08118	0	0.09310	N	1	P	0.39094	0.659	B	0.18561	0.022	T	0.51779	-0.8662	9	0.26408	T	0.33	.	6.9925	0.24763	0.0:0.7121:0.2879:0.0	.	1300	A1L4H1	SRCRL_HUMAN	Y	1300	ENSP00000374274:H1300Y	ENSP00000374274:H1300Y	H	+	1	0	SSC5D	60721353	0.000000	0.05858	0.034000	0.17996	0.215000	0.24574	-2.166000	0.01273	1.280000	0.44463	0.165000	0.16767	CAC	SSC5D	-	NULL	ENSG00000179954		0.642	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	110	0.00	0	C	XM_001718392		56029541	56029541	+1	no_errors	ENST00000389623	ensembl	human	known	69_37n	missense	117	38.42	73	SNP	0.032	T
SSFA2	6744	genome.wustl.edu	37	2	182783380	182783380	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:182783380C>T	ENST00000431877.2	+	12	3022	c.2843C>T	c.(2842-2844)tCa>tTa	p.S948L	SSFA2_ENST00000409001.1_Missense_Mutation_p.S948L|SSFA2_ENST00000320370.7_Missense_Mutation_p.S948L|SSFA2_ENST00000409136.1_Missense_Mutation_p.S457L|SSFA2_ENST00000428267.2_Missense_Mutation_p.S795L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	948						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCAGAAATCATCTGTTCTA	0.313																																						dbGAP											0													148.0	142.0	144.0					2																	182783380		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2843C>T	2.37:g.182783380C>T	ENSP00000388731:p.Ser948Leu		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.S948L	ENST00000431877.2	37	c.2843	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945425	0.92593	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.22743	2.19;1.94;2.17;2.19;1.94	6.11	6.11	0.99139	.	0.565414	0.19756	N	0.106797	T	0.48519	0.1504	M	0.73598	2.24	0.58432	D	0.999994	D;D;D;D;D	0.63046	0.992;0.992;0.992;0.992;0.992	P;P;P;P;P	0.61592	0.856;0.891;0.856;0.856;0.856	T	0.39231	-0.9624	10	0.87932	D	0	-4.3386	20.7342	0.99715	0.0:1.0:0.0:0.0	.	795;457;948;948;948	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	L	948;948;948;795;457	ENSP00000388731:S948L;ENSP00000314669:S948L;ENSP00000387319:S948L;ENSP00000409867:S795L;ENSP00000386916:S457L	ENSP00000314669:S948L	S	+	2	0	SSFA2	182491625	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.950000	0.49081	2.906000	0.99361	0.655000	0.94253	TCA	SSFA2	-	NULL	ENSG00000138434		0.313	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	79	0.00	0	C	NM_006751		182783380	182783380	+1	no_errors	ENST00000431877	ensembl	human	known	69_37n	missense	104	37.72	63	SNP	1.000	T
ST14	6768	genome.wustl.edu	37	11	130078484	130078484	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:130078484C>T	ENST00000278742.5	+	17	2592	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	725	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGTACAGCTCCATGGTGCGG	0.612																																						dbGAP											0													69.0	56.0	61.0					11																	130078484		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2174C>T	11.37:g.130078484C>T	ENSP00000278742:p.Ser725Phe		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_CUB,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S725F	ENST00000278742.5	37	c.2174	CCDS8487.1	11	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683277	0.29872	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.93547	-3.24	5.4	-4.67	0.03319	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.891520	0.03327	N	0.192835	D	0.91818	0.7411	L	0.49513	1.565	0.09310	N	1	P	0.44090	0.826	P	0.44860	0.462	D	0.85624	0.1266	10	0.72032	D	0.01	.	11.9632	0.53019	0.5018:0.3976:0.1006:0.0	.	725	Q9Y5Y6	ST14_HUMAN	F	725;627	ENSP00000278742:S725F	ENSP00000278742:S725F	S	+	2	0	ST14	129583694	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.037000	0.13840	-0.487000	0.06735	0.313000	0.20887	TCC	ST14	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_Peptidase_S1_S6	ENSG00000149418		0.612	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	HGNC	protein_coding	OTTHUMT00000386119.1	30	0.00	0	C			130078484	130078484	+1	no_errors	ENST00000278742	ensembl	human	known	69_37n	missense	29	38.30	18	SNP	0.000	T
ST3GAL3	6487	genome.wustl.edu	37	1	44290500	44290500	+	Intron	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:44290500C>G	ENST00000361392.4	+	4	386				ST3GAL3_ENST00000372372.2_Missense_Mutation_p.L87V|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.L103V|ST3GAL3_ENST00000461375.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.L103V|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.L118V|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.L87V|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.L118V	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				atcccaccctctagagatttt	0.478																																						dbGAP											0													70.0	70.0	70.0					1																	44290500		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.209+9895C>G	1.37:g.44290500C>G			A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L118V	ENST00000361392.4	37	c.352	CCDS492.1	1	.	.	.	.	.	.	.	.	.	.	C	0.979	-0.697669	0.03279	.	.	ENSG00000126091	ENST00000262915;ENST00000372375;ENST00000351035;ENST00000361746;ENST00000372368;ENST00000372372	T;T;T;T;T;T	0.52526	0.66;0.66;0.71;0.66;0.66;0.71	2.17	-2.14	0.07123	.	.	.	.	.	T	0.19248	0.0462	.	.	.	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.20940	-1.0260	8	0.11182	T	0.66	.	0.3228	0.00306	0.2034:0.3135:0.2003:0.2828	.	87;103;118	Q11203-19;Q11203-13;Q11203-4	.;.;.	V	118;103;87;118;103;87	ENSP00000262915:L118V;ENSP00000361450:L103V;ENSP00000316999:L87V;ENSP00000354657:L118V;ENSP00000361443:L103V;ENSP00000361447:L87V	ENSP00000262915:L118V	L	+	1	2	ST3GAL3	44063087	0.000000	0.05858	0.000000	0.03702	0.317000	0.28152	-1.494000	0.02296	-0.627000	0.05589	0.591000	0.81541	CTA	ST3GAL3	-	pirsf_Sialyl_trans	ENSG00000126091		0.478	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL3	HGNC	protein_coding	OTTHUMT00000019964.1	138	0.00	0	C	NM_174963		44290500	44290500	+1	no_errors	ENST00000262915	ensembl	human	known	69_37n	missense	97	24.22	31	SNP	0.000	G
STAG1	10274	genome.wustl.edu	37	3	136196200	136196200	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:136196200C>T	ENST00000383202.2	-	10	1213	c.957G>A	c.(955-957)atG>atA	p.M319I	STAG1_ENST00000434713.2_Missense_Mutation_p.M93I|STAG1_ENST00000236698.5_Missense_Mutation_p.M319I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	319	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TATACATTTTCATCCATACTC	0.343																																						dbGAP											0													139.0	129.0	133.0					3																	136196200		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.957G>A	3.37:g.136196200C>T	ENSP00000372689:p.Met319Ile		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.M319I	ENST00000383202.2	37	c.957	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947745	0.92593	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.29655	1.56;1.56;1.56	5.09	5.09	0.68999	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.35542	1.07	0.80722	D	1	B;P;B	0.51449	0.377;0.945;0.377	B;P;B	0.47573	0.145;0.55;0.145	T	0.02431	-1.1160	10	0.09338	T	0.73	.	18.8476	0.92213	0.0:1.0:0.0:0.0	.	336;319;319	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	I	319;319;93	ENSP00000372689:M319I;ENSP00000236698:M319I;ENSP00000404396:M93I	ENSP00000236698:M319I	M	-	3	0	STAG1	137678890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.511000	0.84671	0.655000	0.94253	ATG	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.343	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	84	0.00	0	C	NM_005862		136196200	136196200	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	144	31.10	65	SNP	1.000	T
STAG1	10274	genome.wustl.edu	37	3	136196234	136196234	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:136196234C>G	ENST00000383202.2	-	10	1179	c.923G>C	c.(922-924)aGa>aCa	p.R308T	STAG1_ENST00000434713.2_Missense_Mutation_p.R82T|STAG1_ENST00000236698.5_Missense_Mutation_p.R308T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	308	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ACAAATGGCTCTAATCTCAGC	0.338																																						dbGAP											0													114.0	109.0	111.0					3																	136196234		2203	4299	6502	-	-	-	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.923G>C	3.37:g.136196234C>G	ENSP00000372689:p.Arg308Thr		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R308T	ENST00000383202.2	37	c.923	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930778	0.92389	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.54866	0.55;0.55;0.55	5.09	5.09	0.68999	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83303	0.5225	H	0.97918	4.105	0.80722	D	1	D;D;D	0.76494	0.999;0.97;0.999	D;P;D	0.72982	0.979;0.83;0.979	D	0.89936	0.4069	10	0.87932	D	0	.	18.8476	0.92213	0.0:1.0:0.0:0.0	.	325;308;308	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	T	308;308;82	ENSP00000372689:R308T;ENSP00000236698:R308T;ENSP00000404396:R82T	ENSP00000236698:R308T	R	-	2	0	STAG1	137678924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.511000	0.84671	0.655000	0.94253	AGA	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.338	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	66	0.00	0	C	NM_005862		136196234	136196234	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	111	38.33	69	SNP	1.000	G
STEAP2	261729	genome.wustl.edu	37	7	89859216	89859216	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:89859216G>A	ENST00000287908.3	+	4	1444	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	STEAP2_ENST00000394629.2_Missense_Mutation_p.E351K|STEAP2_ENST00000394622.2_Missense_Mutation_p.E351K|STEAP2_ENST00000402625.2_Missense_Mutation_p.E351K|STEAP2_ENST00000394621.2_Missense_Mutation_p.E351K|STEAP2_ENST00000394626.1_Missense_Mutation_p.E351K|STEAP2_ENST00000394632.1_Missense_Mutation_p.E351K	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	351	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTCTTGGAATGAGGAAGAAGT	0.383																																						dbGAP											0													127.0	129.0	129.0					7																	89859216		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1051G>A	7.37:g.89859216G>A	ENSP00000287908:p.Glu351Lys		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420	p.E351K	ENST00000287908.3	37	c.1051	CCDS5615.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.196960	0.94960	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	5.93	5.93	0.95920	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.94479	0.8223	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.997;0.998;0.997	D	0.92473	0.5987	10	0.33141	T	0.24	-15.0422	20.3465	0.98790	0.0:0.0:1.0:0.0	.	351;351;351	G5E9C6;Q6YPB2;Q8NFT2	.;.;STEA2_HUMAN	K	351	ENSP00000287908:E351K;ENSP00000378123:E351K;ENSP00000378120:E351K;ENSP00000378128:E351K;ENSP00000378119:E351K;ENSP00000384191:E351K;ENSP00000378125:E351K	ENSP00000287908:E351K	E	+	1	0	STEAP2	89697152	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAG	STEAP2	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000157214		0.383	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP2	HGNC	protein_coding	OTTHUMT00000059662.4	58	0.00	0	G	NM_152999		89859216	89859216	+1	no_errors	ENST00000287908	ensembl	human	known	69_37n	missense	79	36.51	46	SNP	1.000	A
STON1	11037	genome.wustl.edu	37	2	48808340	48808340	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:48808340G>A	ENST00000406226.1	+	3	763	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	STON1_ENST00000404752.1_Missense_Mutation_p.E190K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E190K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E190K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E190K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E190K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E190K|STON1_ENST00000309835.3_Missense_Mutation_p.E190K	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	190					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGGAAAGATGAAGGCAGTGA	0.423																																						dbGAP											0													90.0	87.0	88.0					2																	48808340		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.568G>A	2.37:g.48808340G>A	ENSP00000384615:p.Glu190Lys		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.E190K	ENST00000406226.1	37	c.568	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211128	0.58343	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.92;3.09	5.24	5.24	0.73138	.	0.176864	0.51477	D	0.000089	T	0.14227	0.0344	L	0.34521	1.04	0.34973	D	0.753313	B;P;B	0.50443	0.051;0.935;0.001	B;P;B	0.45829	0.018;0.494;0.002	T	0.02668	-1.1126	10	0.62326	D	0.03	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	190;190;190	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	K	190	ENSP00000385273:E190K;ENSP00000384615:E190K;ENSP00000310969:E190K;ENSP00000385499:E190K;ENSP00000385701:E190K;ENSP00000378236:E190K;ENSP00000311493:E190K;ENSP00000378234:E190K	ENSP00000310969:E190K	E	+	1	0	STON1-GTF2A1L;STON1	48661844	0.975000	0.34042	0.994000	0.49952	0.985000	0.73830	2.534000	0.45676	2.884000	0.98904	0.655000	0.94253	GAA	STON1-GTF2A1L	-	NULL	ENSG00000068781		0.423	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	34	0.00	0	G	NM_006873		48808340	48808340	+1	no_errors	ENST00000309827	ensembl	human	known	69_37n	missense	66	28.26	26	SNP	1.000	A
STX17	55014	genome.wustl.edu	37	9	102713468	102713468	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:102713468C>G	ENST00000259400.6	+	4	452	c.316C>G	c.(316-318)Ctc>Gtc	p.L106V	STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Missense_Mutation_p.L106V|STX17_ENST00000534052.1_Missense_Mutation_p.L106V	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	106					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGCAGAATTTCTCCAACTCCA	0.393																																						dbGAP											0													105.0	104.0	104.0					9																	102713468		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.316C>G	9.37:g.102713468C>G	ENSP00000259400:p.Leu106Val		Q4VXC2	Missense_Mutation	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L106V	ENST00000259400.6	37	c.316	CCDS6745.1	9	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180825	0.78677	.	.	ENSG00000136874	ENST00000259400;ENST00000525640;ENST00000534052	T;T;T	0.22134	1.97;1.97;1.97	5.67	5.67	0.87782	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	L	0.55481	1.735	0.46131	D	0.998888	P;P	0.50528	0.69;0.936	B;P	0.50405	0.164;0.64	T	0.00958	-1.1500	10	0.22109	T	0.4	-2.6424	16.9366	0.86204	0.0:1.0:0.0:0.0	.	106;106	P56962;B4DJ69	STX17_HUMAN;.	V	106	ENSP00000259400:L106V;ENSP00000435981:L106V;ENSP00000433484:L106V	ENSP00000259400:L106V	L	+	1	0	STX17	101753289	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.038000	0.64177	2.669000	0.90835	0.650000	0.86243	CTC	STX17	-	superfamily_t-SNARE	ENSG00000136874		0.393	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	STX17	HGNC	protein_coding	OTTHUMT00000053398.3	46	0.00	0	C	NM_017919		102713468	102713468	+1	no_errors	ENST00000259400	ensembl	human	known	69_37n	missense	60	40.59	41	SNP	1.000	G
STXBP5	134957	genome.wustl.edu	37	6	147684707	147684707	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:147684707C>T	ENST00000321680.6	+	24	2782	c.2782C>T	c.(2782-2784)Ctg>Ttg	p.L928L	STXBP5_ENST00000367480.3_Silent_p.L875L|STXBP5_ENST00000179882.6_Silent_p.L583L|STXBP5_ENST00000367481.3_Silent_p.L892L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	928					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGTAATCTCACTGCCAACCCA	0.433																																						dbGAP											0													113.0	107.0	109.0					6																	147684707		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2782C>T	6.37:g.147684707C>T			Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.L928	ENST00000321680.6	37	c.2782	CCDS47499.1	6																																																																																			STXBP5	-	pfam_Lgl_C,superfamily_WD40_repeat_dom	ENSG00000164506		0.433	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	59	0.00	0	C			147684707	147684707	+1	no_errors	ENST00000321680	ensembl	human	known	69_37n	silent	68	40.35	46	SNP	1.000	T
SUGP1	57794	genome.wustl.edu	37	19	19431303	19431303	+	Start_Codon_SNP	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:19431303C>T	ENST00000247001.5	-	1	350	c.3G>A	c.(1-3)atG>atA	p.M1I	SUGP1_ENST00000334782.5_Start_Codon_SNP_p.M1I|MAU2_ENST00000392313.6_5'Flank|MAU2_ENST00000262815.8_5'Flank|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	1					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.M1I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TCTTGAGACTCATCCAATCCC	0.612																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											90.0	93.0	92.0					19																	19431303		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.3G>A	19.37:g.19431303C>T	ENSP00000247001:p.Met1Ile		O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.M1I	ENST00000247001.5	37	c.3	CCDS12399.1	19	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516196	0.85495	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	T	0.21191	2.02	5.17	4.13	0.48395	.	0.418301	0.22106	N	0.064553	T	0.15565	0.0375	.	.	.	0.27203	N	0.96012	B	0.16396	0.017	B	0.09377	0.004	T	0.09015	-1.0694	9	0.87932	D	0	.	8.6419	0.33983	0.0:0.898:0.0:0.102	.	1	Q8IWZ8	SUGP1_HUMAN	I	1	ENSP00000247001:M1I	ENSP00000247001:M1I	M	-	3	0	SUGP1	19292303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.176000	0.42500	2.430000	0.82344	0.561000	0.74099	ATG	SUGP1	-	NULL	ENSG00000105705		0.612	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUGP1	HGNC	protein_coding	OTTHUMT00000460128.4	44	0.00	0	C	NM_021164	Missense_Mutation	19431303	19431303	-1	no_errors	ENST00000247001	ensembl	human	known	69_37n	missense	33	31.25	15	SNP	1.000	T
SVEP1	79987	genome.wustl.edu	37	9	113141791	113141791	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:113141791G>C	ENST00000401783.2	-	44	10580	c.10244C>G	c.(10243-10245)tCa>tGa	p.S3415*	SVEP1_ENST00000297826.5_Nonsense_Mutation_p.S1341*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.S3392*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3415	Sushi 34. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGACCACATGAGATTTCTAC	0.378																																						dbGAP											0													68.0	61.0	63.0					9																	113141791		1927	4138	6065	-	-	-	SO:0001587	stop_gained	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10244C>G	9.37:g.113141791G>C	ENSP00000384917:p.Ser3415*		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.S3415*	ENST00000401783.2	37	c.10244	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	53	20.128003	0.99927	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	.	.	.	5.87	5.87	0.94306	.	0.166964	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	.	.	.	X	3415;3392;1341	.	ENSP00000297826:S1341X	S	-	2	0	SVEP1	112181612	1.000000	0.71417	0.977000	0.42913	0.089000	0.18198	8.816000	0.91979	2.785000	0.95823	0.655000	0.94253	TCA	SVEP1	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.378	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		33	0.00	0	G			113141791	113141791	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	nonsense	47	32.86	23	SNP	1.000	C
SVEP1	79987	genome.wustl.edu	37	9	113168823	113168823	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:113168823C>G	ENST00000401783.2	-	38	9393	c.9057G>C	c.(9055-9057)ggG>ggC	p.G3019G	SVEP1_ENST00000297826.5_Silent_p.G945G|SVEP1_ENST00000374469.1_Silent_p.G2996G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3019	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAAAATCTGTCCCATTGACAG	0.512																																						dbGAP											0													30.0	31.0	31.0					9																	113168823		1931	4129	6060	-	-	-	SO:0001819	synonymous_variant	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9057G>C	9.37:g.113168823C>G			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.G3019	ENST00000401783.2	37	c.9057	CCDS48004.1	9																																																																																			SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.512	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		20	0.00	0	C			113168823	113168823	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	silent	21	32.26	10	SNP	0.962	G
SWT1	54823	genome.wustl.edu	37	1	185245789	185245789	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:185245789G>A	ENST00000367500.4	+	18	2727	c.2562G>A	c.(2560-2562)caG>caA	p.Q854Q	SWT1_ENST00000367501.3_Silent_p.Q854Q	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	854										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTGTTTCTCAGACTGAGTATA	0.323																																						dbGAP											0													55.0	64.0	61.0					1																	185245789		2203	4294	6497	-	-	-	SO:0001819	synonymous_variant	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2562G>A	1.37:g.185245789G>A			Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	smart_PINc_nuc-bd	p.Q854	ENST00000367500.4	37	c.2562	CCDS1367.1	1																																																																																			SWT1	-	NULL	ENSG00000116668		0.323	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	29	0.00	0	G	NM_017673		185245789	185245789	+1	no_errors	ENST00000367500	ensembl	human	known	69_37n	silent	31	35.42	17	SNP	0.527	A
SYCP2L	221711	genome.wustl.edu	37	6	10894107	10894107	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:10894107C>T	ENST00000283141.6	+	3	382	c.86C>T	c.(85-87)tCa>tTa	p.S29L	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	29						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CAGCTTCAATCACTTATTACG	0.294																																						dbGAP											0													34.0	33.0	33.0					6																	10894107		1795	4061	5856	-	-	-	SO:0001583	missense	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.86C>T	6.37:g.10894107C>T	ENSP00000283141:p.Ser29Leu		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	NULL	p.S29L	ENST00000283141.6	37	c.86	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137615	0.37728	.	.	ENSG00000153157	ENST00000283141	T	0.22743	1.94	5.66	3.88	0.44766	.	0.119182	0.38326	N	0.001722	T	0.11067	0.0270	M	0.76002	2.32	0.25565	N	0.98696	B	0.32382	0.368	B	0.28553	0.091	T	0.10177	-1.0641	10	0.87932	D	0	-4.581	10.3808	0.44110	0.0:0.7911:0.1353:0.0736	.	29	Q5T4T6	SYC2L_HUMAN	L	29	ENSP00000283141:S29L	ENSP00000283141:S29L	S	+	2	0	SYCP2L	11002093	0.151000	0.22747	0.001000	0.08648	0.240000	0.25518	3.009000	0.49552	0.731000	0.32448	-0.136000	0.14681	TCA	SYCP2L	-	NULL	ENSG00000153157		0.294	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	23	0.00	0	C	NM_194299		10894107	10894107	+1	no_errors	ENST00000283141	ensembl	human	known	69_37n	missense	11	54.17	13	SNP	0.139	T
SYDE1	85360	genome.wustl.edu	37	19	15222217	15222217	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:15222217G>A	ENST00000342784.2	+	5	1415	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	SYDE1_ENST00000600252.1_Missense_Mutation_p.E119K|SYDE1_ENST00000600440.1_Missense_Mutation_p.E395K	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	462	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CTGCCTATCTGAGGACCTGTA	0.592																																						dbGAP											0													166.0	134.0	145.0					19																	15222217		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1384G>A	19.37:g.15222217G>A	ENSP00000341489:p.Glu462Lys		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E462K	ENST00000342784.2	37	c.1384	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.175407	0.94807	.	.	ENSG00000105137	ENST00000342784	T	0.18810	2.19	5.3	5.3	0.74995	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	L	0.48877	1.53	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.03524	-1.1028	10	0.35671	T	0.21	.	16.4457	0.83928	0.0:0.0:1.0:0.0	.	395;395;462	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	K	462	ENSP00000341489:E462K	ENSP00000341489:E462K	E	+	1	0	SYDE1	15083217	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.297000	0.96120	2.488000	0.83962	0.561000	0.74099	GAG	SYDE1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000105137		0.592	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	138	0.00	0	G	NM_033025		15222217	15222217	+1	no_errors	ENST00000342784	ensembl	human	known	69_37n	missense	52	37.65	32	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152770740	152770740	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:152770740C>T	ENST00000367255.5	-	28	4033	c.3432G>A	c.(3430-3432)gaG>gaA	p.E1144E	SYNE1_ENST00000341594.5_Silent_p.E1210E|SYNE1_ENST00000265368.4_Silent_p.E1144E|SYNE1_ENST00000367248.3_Silent_p.E1134E|SYNE1_ENST00000367253.4_Silent_p.E1144E|SYNE1_ENST00000448038.1_Silent_p.E1151E|SYNE1_ENST00000413186.2_Silent_p.E1144E|SYNE1_ENST00000423061.1_Silent_p.E1151E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1144					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTAATTGTGTCTCATTTGTAG	0.393										HNSCC(10;0.0054)																												dbGAP											0													109.0	102.0	104.0					6																	152770740		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3432G>A	6.37:g.152770740C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E1144	ENST00000367255.5	37	c.3432	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	52	0.00	0	C	NM_182961		152770740	152770740	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	silent	45	51.09	47	SNP	0.179	T
SYT16	83851	genome.wustl.edu	37	14	62463084	62463084	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:62463084C>G	ENST00000430451.2	+	1	544	c.347C>G	c.(346-348)tCa>tGa	p.S116*	SYT16_ENST00000446982.2_Nonsense_Mutation_p.S116*	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	116					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GCAAAGGACTCATGTTCCACA	0.458																																						dbGAP											0													132.0	126.0	128.0					14																	62463084		1916	4131	6047	-	-	-	SO:0001587	stop_gained	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.347C>G	14.37:g.62463084C>G	ENSP00000394700:p.Ser116*		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation	SNP	NULL	p.S116*	ENST00000430451.2	37	c.347	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.571914	0.97671	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	.	.	.	5.45	4.55	0.56014	.	0.397556	0.18713	N	0.133260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.0426	4.3876	0.11325	0.0:0.6075:0.2106:0.1819	.	.	.	.	X	116	.	ENSP00000394700:S116X	S	+	2	0	SYT16	61532837	0.056000	0.20664	0.011000	0.14972	0.323000	0.28346	0.734000	0.26101	1.498000	0.48600	0.655000	0.94253	TCA	SYT16	-	NULL	ENSG00000139973		0.458	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	63	0.00	0	C	NM_031914		62463084	62463084	+1	no_errors	ENST00000446982	ensembl	human	known	69_37n	nonsense	23	41.03	16	SNP	0.005	G
SYNE2	23224	genome.wustl.edu	37	14	64653259	64653259	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:64653259G>C	ENST00000344113.4	+	97	17886	c.17674G>C	c.(17674-17676)Gag>Cag	p.E5892Q	SYNE2_ENST00000555002.1_Missense_Mutation_p.E2526Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E5892Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2277Q|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2277Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5892					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAGCAAATAGAGCATTTGCA	0.493																																						dbGAP											0													130.0	124.0	126.0					14																	64653259		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17674G>C	14.37:g.64653259G>C	ENSP00000341781:p.Glu5892Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E5892Q	ENST00000344113.4	37	c.17674	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466130	0.43839	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.87	3.96	0.45880	.	0.249386	0.27518	N	0.019018	T	0.33614	0.0869	L	0.33245	0.995	0.80722	D	1	P;B;B;P	0.42941	0.794;0.044;0.165;0.622	B;B;B;B	0.44224	0.444;0.031;0.066;0.406	T	0.02121	-1.1210	10	0.27785	T	0.31	.	16.3081	0.82856	0.0:0.3741:0.6259:0.0	.	2277;280;5892;5892	Q8WXH0-7;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	Q	5892;2277;5892;2526;2277	ENSP00000350719:E5892Q;ENSP00000349969:E2277Q;ENSP00000341781:E5892Q;ENSP00000450831:E2526Q;ENSP00000378249:E2277Q	ENSP00000341781:E5892Q	E	+	1	0	SYNE2	63723012	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	4.436000	0.59948	0.748000	0.32831	0.650000	0.86243	GAG	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.493	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	45	0.00	0	G	NM_182914		64653259	64653259	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	54	37.93	33	SNP	0.909	C
SYTL3	94120	genome.wustl.edu	37	6	159084346	159084346	+	Missense_Mutation	SNP	G	G	C	rs574758010		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:159084346G>C	ENST00000297239.9	+	3	240	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Missense_Mutation_p.E16Q			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	16	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GTTAGAACGCGAGGCCATTCT	0.547																																						dbGAP											0													86.0	74.0	78.0					6																	159084346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.46G>C	6.37:g.159084346G>C	ENSP00000297239:p.Glu16Gln		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.E16Q	ENST00000297239.9	37	c.46	CCDS56458.1	6	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318297	0.40996	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239	T;T	0.79141	-1.24;-1.24	5.44	3.63	0.41609	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.196944	0.52532	D	0.000072	T	0.78929	0.4361	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.65987	0.876;0.94	T	0.80560	-0.1328	10	0.66056	D	0.02	.	10.1769	0.42943	0.0753:0.1375:0.7872:0.0	.	16;16	Q4VX76;Q4VX76-2	SYTL3_HUMAN;.	Q	16	ENSP00000353631:E16Q;ENSP00000297239:E16Q	ENSP00000297239:E16Q	E	+	1	0	SYTL3	159004334	1.000000	0.71417	0.010000	0.14722	0.026000	0.11368	5.789000	0.69029	0.769000	0.33313	-0.175000	0.13238	GAG	SYTL3	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	ENSG00000164674		0.547	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1	26	0.00	0	G			159084346	159084346	+1	no_errors	ENST00000297239	ensembl	human	known	69_37n	missense	22	43.59	17	SNP	0.641	C
TACC2	10579	genome.wustl.edu	37	10	123846402	123846402	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:123846402C>T	ENST00000369005.1	+	4	4727	c.4387C>T	c.(4387-4389)Ctc>Ttc	p.L1463F	TACC2_ENST00000453444.2_Missense_Mutation_p.L1463F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.L1463F|TACC2_ENST00000515273.1_Missense_Mutation_p.L1463F|TACC2_ENST00000515603.1_Missense_Mutation_p.L1463F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1463					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGTCACCCTTCTCCCTGCACC	0.567																																						dbGAP											0													44.0	40.0	42.0					10																	123846402		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4387C>T	10.37:g.123846402C>T	ENSP00000358001:p.Leu1463Phe		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.L1463F	ENST00000369005.1	37	c.4387	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711144	0.48517	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.06142	3.41;3.34;3.35;3.41;3.34	5.22	4.22	0.49857	.	0.000000	0.31335	N	0.007822	T	0.12178	0.0296	L	0.32530	0.975	0.09310	N	1	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.59889	0.865;0.865;0.865	T	0.02661	-1.1127	10	0.66056	D	0.02	-5.998	11.7293	0.51726	0.1882:0.8118:0.0:0.0	.	1463;1463;1463	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	F	1463;1463;1463;1463;1463;1453	ENSP00000358001:L1463F;ENSP00000424467:L1463F;ENSP00000427618:L1463F;ENSP00000334280:L1463F;ENSP00000395048:L1463F	ENSP00000334280:L1463F	L	+	1	0	TACC2	123836392	0.000000	0.05858	0.250000	0.24296	0.002000	0.02628	0.250000	0.18235	2.422000	0.82143	0.549000	0.68633	CTC	TACC2	-	NULL	ENSG00000138162		0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	13	0.00	0	C			123846402	123846402	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	missense	3	57.14	4	SNP	0.014	T
TACR1	6869	genome.wustl.edu	37	2	75278398	75278398	+	Silent	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:75278398G>T	ENST00000305249.5	-	4	1677	c.912C>A	c.(910-912)atC>atA	p.I304I	TACR1_ENST00000409848.3_Silent_p.I304I	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	304					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGCAGCAGTAGATGATGGGGT	0.532																																					Pancreas(64;62 1268 3653 14826 43765)	dbGAP											0													207.0	187.0	194.0					2																	75278398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.912C>A	2.37:g.75278398G>T			A8K150	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt	p.I304	ENST00000305249.5	37	c.912	CCDS1958.1	2																																																																																			TACR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	ENSG00000115353		0.532	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	HGNC	protein_coding	OTTHUMT00000252239.3	166	0.60	1	G	NM_001058		75278398	75278398	-1	no_errors	ENST00000305249	ensembl	human	known	69_37n	silent	113	35.96	64	SNP	1.000	T
TBC1D15	64786	genome.wustl.edu	37	12	72274276	72274276	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:72274276C>G	ENST00000550746.1	+	4	296	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	TBC1D15_ENST00000485960.2_Missense_Mutation_p.Q78E|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.Q86E	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	78					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.Q86E(1)|p.Q78E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGAATGGACTCAGGCCCCAAA	0.328																																						dbGAP											2	Substitution - Missense(2)	kidney(2)											38.0	34.0	36.0					12																	72274276		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.232C>G	12.37:g.72274276C>G	ENSP00000448182:p.Gln78Glu		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q78E	ENST00000550746.1	37	c.232	CCDS31858.1	12	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027305	0.35797	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	T;T;T	0.05580	3.43;3.42;3.42	5.92	5.92	0.95590	Domain of unknown function DUF3548 (1);	0.173092	0.52532	D	0.000074	T	0.06826	0.0174	N	0.24115	0.695	0.80722	D	1	B;B;B	0.31752	0.336;0.338;0.017	B;B;B	0.39531	0.302;0.276;0.022	T	0.09975	-1.0650	10	0.02654	T	1	-8.6834	18.4977	0.90870	0.0:1.0:0.0:0.0	.	86;78;78	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	E	78;86;78	ENSP00000448182:Q78E;ENSP00000318262:Q86E;ENSP00000420678:Q78E	ENSP00000318262:Q86E	Q	+	1	0	TBC1D15	70560543	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.558000	0.73942	2.801000	0.96364	0.650000	0.86243	CAG	TBC1D15	-	pfam_DUF3548	ENSG00000121749		0.328	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	HGNC	protein_coding	OTTHUMT00000351266.2	34	0.00	0	C	NM_022771		72274276	72274276	+1	no_errors	ENST00000550746	ensembl	human	known	69_37n	missense	30	30.23	13	SNP	0.998	G
TBC1D29	26083	genome.wustl.edu	37	17	28890393	28890393	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:28890393C>G	ENST00000580161.1	+	6	2900	c.403C>G	c.(403-405)Cta>Gta	p.L135V	TBC1D29_ENST00000584297.1_3'UTR|TBC1D29_ENST00000579181.1_Missense_Mutation_p.L135V|RP11-218M11.1_ENST00000563063.1_lincRNA			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	135							Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CTCATTATCTCTACCATCTCT	0.522																																						dbGAP											0													73.0	63.0	67.0					17																	28890393		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.403C>G	17.37:g.28890393C>G	ENSP00000462799:p.Leu135Val			Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L135V	ENST00000580161.1	37	c.403	CCDS32606.1	17	.	.	.	.	.	.	.	.	.	.	.	7.867	0.727318	0.15439	.	.	ENSG00000197689	ENST00000329040	.	.	.	.	.	.	.	.	.	.	.	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	P	0.37398	0.593	P	0.48114	0.567	T	0.30707	-0.9969	7	0.34782	T	0.22	.	5.8178	0.18506	0.0:0.999:0.0:0.001	.	135	Q9UFV1	TBC29_HUMAN	V	135	.	ENSP00000330052:L135V	L	+	1	2	TBC1D29	25914519	0.149000	0.22717	0.012000	0.15200	0.012000	0.07955	0.116000	0.15561	-0.000000	0.14550	0.000000	0.15137	CTA	TBC1D29	-	NULL	ENSG00000266733		0.522	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TBC1D29	HGNC	protein_coding	OTTHUMT00000443632.1	34	0.00	0	C	NM_015594		28890393	28890393	+1	no_errors	ENST00000579181	ensembl	human	known	69_37n	missense	24	41.46	17	SNP	0.058	G
TBC1D4	9882	genome.wustl.edu	37	13	76055566	76055566	+	Missense_Mutation	SNP	T	T	C	rs375426745		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr13:76055566T>C	ENST00000377636.3	-	1	684	c.338A>G	c.(337-339)aAc>aGc	p.N113S	TBC1D4_ENST00000377625.2_Missense_Mutation_p.N113S|TBC1D4_ENST00000431480.2_Missense_Mutation_p.N113S|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	113	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACCGCCGGGTTGGGCTGCGT	0.657																																						dbGAP											0													71.0	83.0	79.0					13																	76055566		2133	4249	6382	-	-	-	SO:0001583	missense	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.338A>G	13.37:g.76055566T>C	ENSP00000366863:p.Asn113Ser		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.N113S	ENST00000377636.3	37	c.338	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	T	8.342	0.828842	0.16749	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.03212	4.02;4.01;4.01	4.16	-1.54	0.08584	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	1.122630	0.06962	N	0.816585	T	0.03739	0.0106	L	0.44542	1.39	0.29533	N	0.852624	B;B;B	0.20550	0.046;0.003;0.003	B;B;B	0.21708	0.036;0.005;0.009	T	0.44236	-0.9341	10	0.32370	T	0.25	-3.9364	4.5594	0.12152	0.0:0.288:0.3149:0.397	.	113;113;113	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	S	113	ENSP00000366863:N113S;ENSP00000395986:N113S;ENSP00000366852:N113S	ENSP00000366852:N113S	N	-	2	0	TBC1D4	74953567	1.000000	0.71417	0.199000	0.23439	0.341000	0.28922	0.698000	0.25571	-0.115000	0.11915	-0.379000	0.06801	AAC	TBC1D4	-	smart_PTyr_interaction_dom	ENSG00000136111		0.657	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	26	0.00	0	T	NM_014832		76055566	76055566	-1	no_errors	ENST00000377636	ensembl	human	known	69_37n	missense	11	54.17	13	SNP	0.091	C
TBC1D5	9779	genome.wustl.edu	37	3	17415966	17415966	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:17415966C>G	ENST00000253692.7	-	12	2483	c.819G>C	c.(817-819)caG>caC	p.Q273H	TBC1D5_ENST00000429924.2_Missense_Mutation_p.Q225H|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Missense_Mutation_p.Q273H|TBC1D5_ENST00000446818.2_Missense_Mutation_p.Q273H	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	273	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					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						GATTTACCTTCTGACCATCAT	0.313																																						dbGAP											0													58.0	58.0	58.0					3																	17415966		2202	4296	6498	-	-	-	SO:0001583	missense	0			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.819G>C	3.37:g.17415966C>G	ENSP00000253692:p.Gln273His		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.Q273H	ENST00000253692.7	37	c.819	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311162	0.40895	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.46063	1.46;1.46;1.46;0.88	5.44	-0.152	0.13407	Rab-GAP/TBC domain (4);	0.103999	0.64402	N	0.000003	T	0.38799	0.1054	L	0.33293	1	0.44702	D	0.997699	P;P;B	0.49358	0.923;0.916;0.016	P;P;B	0.56343	0.796;0.747;0.102	T	0.17319	-1.0373	10	0.49607	T	0.09	-5.4686	4.8263	0.13417	0.0:0.2657:0.2859:0.4484	.	225;273;273	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	H	273;273;273;225	ENSP00000253692:Q273H;ENSP00000398127:Q273H;ENSP00000402935:Q273H;ENSP00000411925:Q225H	ENSP00000253692:Q273H	Q	-	3	2	TBC1D5	17390970	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	1.267000	0.33050	0.079000	0.16929	-1.267000	0.01435	CAG	TBC1D5	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000131374		0.313	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	74	0.00	0	C	NM_014744		17415966	17415966	-1	no_errors	ENST00000253692	ensembl	human	known	69_37n	missense	60	40.78	42	SNP	0.991	G
TCF20	6942	genome.wustl.edu	37	22	42609196	42609196	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:42609196G>A	ENST00000359486.3	-	1	2252	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.R706C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	706					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAACTATAGCGCAGACTTCCA	0.512																																						dbGAP											0													133.0	130.0	131.0					22																	42609196		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2116C>T	22.37:g.42609196G>A	ENSP00000352463:p.Arg706Cys		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.R706C	ENST00000359486.3	37	c.2116	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656825	0.47467	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61510	0.1;0.1	5.93	5.93	0.95920	.	0.080476	0.51477	D	0.000093	T	0.58750	0.2144	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65010	0.931;0.854	T	0.62044	-0.6937	10	0.72032	D	0.01	-13.6333	10.2501	0.43364	0.0:0.1213:0.6947:0.184	.	706;706	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	C	706	ENSP00000352463:R706C;ENSP00000335561:R706C	ENSP00000335561:R706C	R	-	1	0	TCF20	40939140	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.591000	0.53986	2.805000	0.96524	0.655000	0.94253	CGC	TCF20	-	NULL	ENSG00000100207		0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	116	0.00	0	G	NM_181492		42609196	42609196	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	missense	58	30.12	25	SNP	1.000	A
TCHHL1	126637	genome.wustl.edu	37	1	152060521	152060521	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:152060521C>T	ENST00000368806.1	-	2	163	c.99G>A	c.(97-99)ctG>ctA	p.L33L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	33							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGAGTTGTTTCAGCTCTCTGC	0.463																																						dbGAP											0													175.0	168.0	170.0					1																	152060521		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.99G>A	1.37:g.152060521C>T			B2RPK8|Q5VTJ9	Silent	SNP	pfam_S100_Ca-bd_sub	p.L33	ENST00000368806.1	37	c.99	CCDS30857.1	1																																																																																			TCHHL1	-	pfam_S100_Ca-bd_sub	ENSG00000182898		0.463	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	92	0.00	0	C	XM_060104		152060521	152060521	-1	no_errors	ENST00000368806	ensembl	human	known	69_37n	silent	75	25.74	26	SNP	0.104	T
TCHH	7062	genome.wustl.edu	37	1	152082620	152082620	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:152082620C>T	ENST00000368804.1	-	2	3072	c.3073G>A	c.(3073-3075)Gag>Aag	p.E1025K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1025	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGCAGCTCGTCTTTTTTG	0.577																																						dbGAP											0													104.0	106.0	105.0					1																	152082620		1983	4146	6129	-	-	-	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3073G>A	1.37:g.152082620C>T	ENSP00000357794:p.Glu1025Lys		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E1025K	ENST00000368804.1	37	c.3073	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	C	8.350	0.830683	0.16820	.	.	ENSG00000159450	ENST00000368804	T	0.04654	3.58	2.07	-4.14	0.03892	.	.	.	.	.	T	0.00845	0.0028	L	0.27053	0.805	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.47935	-0.9078	9	0.25751	T	0.34	.	4.1294	0.10143	0.0:0.1975:0.3443:0.4582	.	1025	Q07283	TRHY_HUMAN	K	1025	ENSP00000357794:E1025K	ENSP00000357794:E1025K	E	-	1	0	TCHH	150349244	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.113000	0.03296	-0.461000	0.06993	0.456000	0.33151	GAG	TCHH	-	NULL	ENSG00000159450		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	429	0.00	0	C	NM_007113		152082620	152082620	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	missense	347	28.10	136	SNP	0.000	T
TCTN3	26123	genome.wustl.edu	37	10	97453174	97453174	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:97453174C>T	ENST00000371217.5	-	2	339	c.316G>A	c.(316-318)Gac>Aac	p.D106N	TCTN3_ENST00000371209.5_Missense_Mutation_p.D106N|TCTN3_ENST00000430368.2_Missense_Mutation_p.D106N|TCTN3_ENST00000265993.9_Missense_Mutation_p.D124N			Q6NUS6	TECT3_HUMAN	tectonic family member 3	106	Cys-rich.				apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CAGTCCCTGTCGCAGCAGCAA	0.507											OREG0020392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													95.0	87.0	90.0					10																	97453174		692	1591	2283	-	-	-	SO:0001583	missense	0			AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.316G>A	10.37:g.97453174C>T	ENSP00000360261:p.Asp106Asn	1328	A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	pfam_DUF1619	p.D124N	ENST00000371217.5	37	c.370	CCDS31258.2	10	.	.	.	.	.	.	.	.	.	.	C	35	5.578264	0.96565	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000371209	D;D;D	0.96554	-4.05;-4.05;-4.05	5.92	5.92	0.95590	Domain of unknown function DUF1619 (1);	0.000000	0.85682	D	0.000000	D	0.98324	0.9444	M	0.89095	3.005	0.28389	N	0.91915	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95191	0.8308	10	0.87932	D	0	-14.6959	15.8249	0.78690	0.0:1.0:0.0:0.0	.	106;106;106	B4DR81;Q6NUS6-2;Q6NUS6	.;.;TECT3_HUMAN	N	106;106;124;106	ENSP00000265993:D106N;ENSP00000387567:D106N;ENSP00000360253:D106N	ENSP00000265993:D106N	D	-	1	0	TCTN3	97443164	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.125000	0.57931	2.818000	0.97014	0.655000	0.94253	GAC	TCTN3	-	pfam_DUF1619	ENSG00000119977		0.507	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	TCTN3	HGNC	protein_coding	OTTHUMT00000471858.1	16	0.00	0	C	NM_015631		97453174	97453174	-1	no_errors	ENST00000371217	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	1.000	T
TDP2	51567	genome.wustl.edu	37	6	24666935	24666935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:24666935C>T	ENST00000378198.4	-	1	326	c.156G>A	c.(154-156)tgG>tgA	p.W52*	ACOT13_ENST00000537591.1_5'Flank|TDP2_ENST00000341060.3_5'Flank|ACOT13_ENST00000230048.4_5'Flank|TDP2_ENST00000545995.1_Nonsense_Mutation_p.W82*			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	52					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						CTTCCATCTCCCAGTCGTTCT	0.577								Direct reversal of damage																														dbGAP											0													141.0	153.0	149.0					6																	24666935		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.156G>A	6.37:g.24666935C>T	ENSP00000367440:p.Trp52*		B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like	p.W82*	ENST00000378198.4	37	c.246	CCDS4557.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.229810	0.97394	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780	.	.	.	5.2	4.33	0.51752	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5508	11.5011	0.50437	0.0:0.9141:0.0:0.0859	.	.	.	.	X	52;82;52	.	ENSP00000367440:W52X	W	-	3	0	TDP2	24774914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.919000	0.63383	1.421000	0.47157	0.655000	0.94253	TGG	TDP2	-	superfamily_UBA-like	ENSG00000111802		0.577	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TDP2	HGNC	protein_coding	OTTHUMT00000040012.1	38	0.00	0	C			24666935	24666935	-1	no_errors	ENST00000545995	ensembl	human	known	69_37n	nonsense	36	14.29	6	SNP	1.000	T
TDRD6	221400	genome.wustl.edu	37	6	46658854	46658854	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:46658854G>A	ENST00000316081.6	+	1	2989	c.2989G>A	c.(2989-2991)Gac>Aac	p.D997N	TDRD6_ENST00000544460.1_Missense_Mutation_p.D997N|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	997					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCATATTGATGACCCTTGGAC	0.328																																						dbGAP											0													50.0	53.0	52.0					6																	46658854		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2989G>A	6.37:g.46658854G>A	ENSP00000346065:p.Asp997Asn		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.D997N	ENST00000316081.6	37	c.2989	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856451	0.32791	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.08720	3.06;3.06	5.26	4.37	0.52481	Maternal tudor protein (1);	0.521129	0.23565	N	0.046813	T	0.01800	0.0057	N	0.26042	0.785	0.29823	N	0.830656	B;B	0.34349	0.395;0.45	B;B	0.35931	0.136;0.214	T	0.38373	-0.9664	10	0.07644	T	0.81	-6.2068	10.8645	0.46847	0.0727:0.1313:0.796:0.0	.	997;997	F5H5M3;O60522	.;TDRD6_HUMAN	N	997	ENSP00000443299:D997N;ENSP00000346065:D997N	ENSP00000346065:D997N	D	+	1	0	TDRD6	46766813	0.999000	0.42202	1.000000	0.80357	0.963000	0.63663	3.321000	0.51999	1.169000	0.42739	0.591000	0.81541	GAC	TDRD6	-	pfam_Tudor	ENSG00000180113		0.328	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	24	0.00	0	G	XM_166443		46658854	46658854	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	31	38.46	20	SNP	0.988	A
TEK	7010	genome.wustl.edu	37	9	27157944	27157944	+	Silent	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:27157944C>A	ENST00000380036.4	+	2	610	c.168C>A	c.(166-168)acC>acA	p.T56T	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Silent_p.T56T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	56	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AGCCCATCACCATAGGAAGGG	0.483																																						dbGAP											0													126.0	115.0	118.0					9																	27157944		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.168C>A	9.37:g.27157944C>A			A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T56	ENST00000380036.4	37	c.168	CCDS6519.1	9																																																																																			TEK	-	pfam_Tyr_kin_Tie2_Ig-like_dom-1_N	ENSG00000120156		0.483	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	79	0.00	0	C			27157944	27157944	+1	no_errors	ENST00000380036	ensembl	human	known	69_37n	silent	187	12.21	26	SNP	0.988	A
TEKT5	146279	genome.wustl.edu	37	16	10775963	10775963	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:10775963C>G	ENST00000283025.2	-	4	821	c.750G>C	c.(748-750)gaG>gaC	p.E250D		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	250						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CGAGGTCCCTCTCCAGCACGT	0.552																																						dbGAP											0													221.0	179.0	194.0					16																	10775963		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.750G>C	16.37:g.10775963C>G	ENSP00000283025:p.Glu250Asp		A1L3Z3	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.E250D	ENST00000283025.2	37	c.750	CCDS10542.1	16	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075534	0.36662	.	.	ENSG00000153060	ENST00000283025	T	0.03358	3.96	5.05	4.1	0.47936	.	0.000000	0.56097	D	0.000025	T	0.14787	0.0357	M	0.82193	2.58	0.54753	D	0.999983	P	0.40376	0.715	P	0.53062	0.717	T	0.00178	-1.1951	10	0.54805	T	0.06	-34.2235	12.2271	0.54465	0.0:0.9161:0.0:0.0839	.	250	Q96M29	TEKT5_HUMAN	D	250	ENSP00000283025:E250D	ENSP00000283025:E250D	E	-	3	2	TEKT5	10683464	0.927000	0.31430	0.999000	0.59377	0.034000	0.12701	1.514000	0.35834	1.115000	0.41800	-0.140000	0.14226	GAG	TEKT5	-	pfam_Tektin	ENSG00000153060		0.552	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	152	0.00	0	C	NM_144674		10775963	10775963	-1	no_errors	ENST00000283025	ensembl	human	known	69_37n	missense	73	40.65	50	SNP	1.000	G
TESK2	10420	genome.wustl.edu	37	1	45810610	45810610	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:45810610C>G	ENST00000372086.3	-	11	2018	c.1618G>C	c.(1618-1620)Gag>Cag	p.E540Q	TESK2_ENST00000538496.1_Missense_Mutation_p.E457Q|TESK2_ENST00000341771.6_Missense_Mutation_p.E511Q|TESK2_ENST00000372084.1_Missense_Mutation_p.E511Q|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	540					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TCCATCTCCTCAGAAGCACCC	0.582																																						dbGAP											0													77.0	79.0	78.0					1																	45810610		1942	4141	6083	-	-	-	SO:0001583	missense	0			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1618G>C	1.37:g.45810610C>G	ENSP00000361158:p.Glu540Gln		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E540Q	ENST00000372086.3	37	c.1618	CCDS41323.1	1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667916	0.67814	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.76968	-0.97;-0.78;-0.97;-1.06	5.2	5.2	0.72013	.	0.000000	0.53938	D	0.000057	T	0.78898	0.4356	L	0.27053	0.805	0.80722	D	1	D;D	0.60575	0.988;0.98	P;P	0.58721	0.844;0.703	T	0.79978	-0.1575	10	0.54805	T	0.06	-26.2305	16.3954	0.83604	0.0:1.0:0.0:0.0	.	511;540	Q96S53-3;Q96S53	.;TESK2_HUMAN	Q	511;540;524;511;457	ENSP00000361156:E511Q;ENSP00000361158:E540Q;ENSP00000343940:E511Q;ENSP00000441746:E457Q	ENSP00000343940:E511Q	E	-	1	0	TESK2	45583197	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	1.864000	0.39469	2.850000	0.98022	0.650000	0.86243	GAG	TESK2	-	NULL	ENSG00000070759		0.582	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	44	0.00	0	C	NM_007170		45810610	45810610	-1	no_errors	ENST00000372086	ensembl	human	known	69_37n	missense	50	13.79	8	SNP	1.000	G
TEX15	56154	genome.wustl.edu	37	8	30695150	30695150	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:30695150C>G	ENST00000256246.2	-	3	7575	c.7501G>C	c.(7501-7503)Gat>Cat	p.D2501H		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2501					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGAGAAACATCAGTTTCTGGG	0.413																																						dbGAP											0													74.0	76.0	75.0					8																	30695150		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7501G>C	8.37:g.30695150C>G	ENSP00000256246:p.Asp2501His			Missense_Mutation	SNP	NULL	p.D2501H	ENST00000256246.2	37	c.7501	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	9.325	1.058952	0.19987	.	.	ENSG00000133863	ENST00000256246	T	0.14266	2.52	4.24	0.133	0.14766	.	0.670270	0.13819	N	0.360570	T	0.09818	0.0241	L	0.29908	0.895	0.09310	N	1	B	0.27679	0.185	B	0.33846	0.171	T	0.32851	-0.9891	10	0.87932	D	0	.	3.6316	0.08134	0.0:0.4624:0.1894:0.3482	.	2501	Q9BXT5	TEX15_HUMAN	H	2501	ENSP00000256246:D2501H	ENSP00000256246:D2501H	D	-	1	0	TEX15	30814692	0.000000	0.05858	0.005000	0.12908	0.092000	0.18411	-0.180000	0.09754	0.010000	0.14839	0.561000	0.74099	GAT	TEX15	-	NULL	ENSG00000133863		0.413	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	35	0.00	0	C			30695150	30695150	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	29	38.30	18	SNP	0.024	G
TEX15	56154	genome.wustl.edu	37	8	30701576	30701576	+	Missense_Mutation	SNP	C	C	G	rs565647379		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:30701576C>G	ENST00000256246.2	-	1	5032	c.4958G>C	c.(4957-4959)aGa>aCa	p.R1653T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1653					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCTTGCTTTCTTTCAAAAGC	0.363																																						dbGAP											0													59.0	60.0	60.0					8																	30701576		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4958G>C	8.37:g.30701576C>G	ENSP00000256246:p.Arg1653Thr			Missense_Mutation	SNP	NULL	p.R1653T	ENST00000256246.2	37	c.4958	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594622	0.46214	.	.	ENSG00000133863	ENST00000256246	T	0.30182	1.54	5.92	3.02	0.34903	.	0.201997	0.35262	N	0.003337	T	0.35508	0.0934	M	0.61703	1.905	0.35215	D	0.775488	P	0.49783	0.928	P	0.50659	0.647	T	0.46610	-0.9179	10	0.87932	D	0	.	4.0386	0.09741	0.1546:0.5176:0.0:0.3277	.	1653	Q9BXT5	TEX15_HUMAN	T	1653	ENSP00000256246:R1653T	ENSP00000256246:R1653T	R	-	2	0	TEX15	30821118	0.998000	0.40836	0.978000	0.43139	0.985000	0.73830	0.532000	0.23067	0.327000	0.23409	-0.137000	0.14449	AGA	TEX15	-	NULL	ENSG00000133863		0.363	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	42	0.00	0	C			30701576	30701576	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	27	41.30	19	SNP	0.988	G
TGM2	7052	genome.wustl.edu	37	20	36776480	36776480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr20:36776480delC	ENST00000361475.2	-	5	737	c.564delG	c.(562-564)gggfs	p.G188fs	TGM2_ENST00000536701.1_Frame_Shift_Del_p.G107fs|TGM2_ENST00000536724.1_Frame_Shift_Del_p.G128fs	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	188					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TGTCTAGGATCCCATCTTCAA	0.582																																						dbGAP											0													62.0	63.0	62.0					20																	36776480		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.564delG	20.37:g.36776480delC	ENSP00000355330:p.Gly188fs		E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Frame_Shift_Del	DEL	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.I189fs	ENST00000361475.2	37	c.564	CCDS13302.1	20																																																																																			TGM2	-	NULL	ENSG00000198959		0.582	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	38	0.00	0	C	NM_198951		36776480	36776480	-1	no_errors	ENST00000361475	ensembl	human	known	69_37n	frame_shift_del	8	52.94	9	DEL	0.067	-
THEM5	284486	genome.wustl.edu	37	1	151823550	151823550	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:151823550G>C	ENST00000368817.5	-	3	574	c.443C>G	c.(442-444)tCc>tGc	p.S148C	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	148					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCAGGTAGGAGCCTGGTTG	0.577																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.443C>G	1.37:g.151823550G>C	ENSP00000357807:p.Ser148Cys		Q5T1C3	Missense_Mutation	SNP	pfam_Thioestr_supf	p.S148C	ENST00000368817.5	37	c.443	CCDS1005.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.76|16.76	3.211311|3.211311	0.58343|0.58343	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000453881|ENST00000368817	.|T	.|0.23147	.|1.92	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.111193	.|0.64402	.|D	.|0.000007	T|T	0.06962|0.06962	0.0177|0.0177	N|N	0.08118|0.08118	0|0	0.26434|0.26434	N|N	0.975892|0.975892	.|B	.|0.26147	.|0.143	.|B	.|0.12837	.|0.008	T|T	0.17531|0.17531	-1.0366|-1.0366	5|10	.|0.62326	.|D	.|0.03	-9.9033|-9.9033	16.144|16.144	0.81551|0.81551	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|148	.|Q8N1Q8	.|THEM5_HUMAN	A|C	95|148	.|ENSP00000357807:S148C	.|ENSP00000357807:S148C	P|S	-|-	1|2	0|0	THEM5|THEM5	150090174|150090174	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.965000|0.965000	0.64279|0.64279	4.889000|4.889000	0.63171|0.63171	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CCT|TCC	THEM5	-	NULL	ENSG00000196407		0.577	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THEM5	HGNC	protein_coding	OTTHUMT00000036678.2	28	0.00	0	G	NM_182578		151823550	151823550	-1	no_errors	ENST00000368817	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	1.000	C
THSD7B	80731	genome.wustl.edu	37	2	138413174	138413174	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:138413174G>C	ENST00000409968.1	+	22	4227	c.4049G>C	c.(4048-4050)gGa>gCa	p.G1350A	THSD7B_ENST00000413152.2_Missense_Mutation_p.G1322A|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1353A|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1352	TSP type-1 17. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCACTGTGTGGAGAAATGCCC	0.537																																						dbGAP											0													79.0	80.0	80.0					2																	138413174		2113	4229	6342	-	-	-	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4049G>C	2.37:g.138413174G>C	ENSP00000387145:p.Gly1350Ala			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G1353A	ENST00000409968.1	37	c.4058		2	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639275	0.29157	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60171	0.21;0.21;0.21	5.26	4.32	0.51571	.	0.156238	0.64402	D	0.000020	T	0.47783	0.1464	L	0.43701	1.375	0.80722	D	1	P	0.38455	0.632	B	0.39339	0.297	T	0.35847	-0.9772	10	0.10377	T	0.69	.	12.7844	0.57496	0.0852:0.0:0.9148:0.0	.	1322	C9JKN6	.	A	1350;1353;1322	ENSP00000387145:G1350A;ENSP00000272643:G1353A;ENSP00000413841:G1322A	ENSP00000272643:G1353A	G	+	2	0	THSD7B	138129644	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	4.588000	0.60999	1.313000	0.45069	0.650000	0.86243	GGA	THSD7B	-	smart_Thrombospondin_1_rpt	ENSG00000144229		0.537	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	51	0.00	0	G	XM_046570.9		138413174	138413174	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	missense	26	55.93	33	SNP	1.000	C
TIAM2	26230	genome.wustl.edu	37	6	155465844	155465844	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:155465844C>G	ENST00000461783.3	+	8	3008	c.1735C>G	c.(1735-1737)Cca>Gca	p.P579A	TIAM2_ENST00000318981.5_Missense_Mutation_p.P579A|TIAM2_ENST00000456144.1_Missense_Mutation_p.P579A|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.P579A|TIAM2_ENST00000360366.4_Missense_Mutation_p.P579A			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	579	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		GCAGTCTGTTCCAGAGCATCC	0.473																																						dbGAP											0													146.0	134.0	139.0					6																	155465844		2203	4300	6503	-	-	-	SO:0001583	missense	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.1735C>G	6.37:g.155465844C>G	ENSP00000437188:p.Pro579Ala		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.P579A	ENST00000461783.3	37	c.1735	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642940	0.87859	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85182	0.5638	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85511	0.1197	10	0.72032	D	0.01	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	579;579	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	A	579;825;579;579;579;579;579	ENSP00000437188:P579A;ENSP00000434901:P579A;ENSP00000407746:P579A;ENSP00000327315:P579A;ENSP00000353528:P579A;ENSP00000433348:P579A	ENSP00000327315:P579A	P	+	1	0	TIAM2	155507536	1.000000	0.71417	0.992000	0.48379	0.703000	0.40648	7.433000	0.80362	2.746000	0.94184	0.655000	0.94253	CCA	TIAM2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000146426		0.473	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	57	0.00	0	C	NM_012454		155465844	155465844	+1	no_errors	ENST00000456144	ensembl	human	known	69_37n	missense	37	43.08	28	SNP	1.000	G
TLE3	7090	genome.wustl.edu	37	15	70366914	70366916	+	In_Frame_Del	DEL	GCG	GCG	-	rs376875838|rs371598333		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:70366914_70366916delGCG	ENST00000558939.1	-	6	1705_1707	c.328_330delCGC	c.(328-330)cgcdel	p.R110del	TLE3_ENST00000559929.1_In_Frame_Del_p.R110del|TLE3_ENST00000558201.1_In_Frame_Del_p.R116del|TLE3_ENST00000317509.8_In_Frame_Del_p.R110del|TLE3_ENST00000557907.1_In_Frame_Del_p.R110del|TLE3_ENST00000440567.3_In_Frame_Del_p.R103del|TLE3_ENST00000560939.1_In_Frame_Del_p.R116del|TLE3_ENST00000451782.2_In_Frame_Del_p.R110del|TLE3_ENST00000560589.1_In_Frame_Del_p.R54del|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000539550.1_In_Frame_Del_p.R44del|TLE3_ENST00000559048.1_In_Frame_Del_p.R116del|TLE3_ENST00000557997.1_In_Frame_Del_p.R110del|TLE3_ENST00000442299.2_In_Frame_Del_p.R110del|TLE3_ENST00000558379.1_In_Frame_Del_p.R110del	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	110	Gln-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTGCTTGGCGCGCTCCACTGCC	0.586																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.328_330delCGC	15.37:g.70366914_70366916delGCG	ENSP00000452871:p.Arg110del		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	In_Frame_Del	DEL	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.R110in_frame_del	ENST00000558939.1	37	c.330_328	CCDS45293.1	15																																																																																			TLE3	-	pfam_Groucho/TLE_N	ENSG00000140332		0.586	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE3	HGNC	protein_coding	OTTHUMT00000416913.1	91	0.00	0	GCG	NM_005078		70366914	70366916	-1	no_errors	ENST00000558939	ensembl	human	known	69_37n	in_frame_del	69	16.67	14	DEL	0.561:0.998:0.994	-
TICRR	90381	genome.wustl.edu	37	15	90168722	90168722	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:90168722C>G	ENST00000268138.7	+	20	5286	c.5181C>G	c.(5179-5181)ctC>ctG	p.L1727L	TICRR_ENST00000560985.1_Silent_p.L1726L|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1727					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCCTTGAACTCAGCATCCACA	0.637																																						dbGAP											0													52.0	56.0	55.0					15																	90168722		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.5181C>G	15.37:g.90168722C>G			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	NULL	p.S31*	ENST00000268138.7	37	c.92	CCDS10352.2	15																																																																																			TICRR	-	NULL	ENSG00000140534		0.637	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	28	0.00	0	C	NM_152259		90168722	90168722	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000561095	ensembl	human	known	69_37n	nonsense	25	19.35	6	SNP	0.000	G
TLR4	7099	genome.wustl.edu	37	9	120470909	120470909	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:120470909C>G	ENST00000355622.6	+	2	263	c.162C>G	c.(160-162)ttC>ttG	p.F54L	TLR4_ENST00000394487.4_Missense_Mutation_p.F14L|TLR4_ENST00000472304.1_Intron|RNU6-1082P_ENST00000364574.1_RNA	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	54					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACCTCCCCTTCTCAACCAAGA	0.438																																						dbGAP											0													155.0	156.0	156.0					9																	120470909		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.162C>G	9.37:g.120470909C>G	ENSP00000363089:p.Phe54Leu		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.F54L	ENST00000355622.6	37	c.162	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	C	8.968	0.972271	0.18736	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37411	1.51;1.2	5.66	0.884	0.19182	.	1.148760	0.06242	N	0.690642	T	0.15565	0.0375	N	0.08118	0	0.22489	N	0.999057	B	0.10296	0.003	B	0.09377	0.004	T	0.26643	-1.0097	10	0.12103	T	0.63	.	2.3147	0.04196	0.2483:0.4581:0.0951:0.1985	.	54	O00206	TLR4_HUMAN	L	14;54	ENSP00000377997:F14L;ENSP00000363089:F54L	ENSP00000363089:F54L	F	+	3	2	TLR4	119510730	0.006000	0.16342	0.305000	0.25099	0.986000	0.74619	-0.001000	0.12947	0.268000	0.21939	0.655000	0.94253	TTC	TLR4	-	pirsf_Toll-like_receptor	ENSG00000136869		0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	128	0.00	0	C	NM_138554		120470909	120470909	+1	no_errors	ENST00000355622	ensembl	human	known	69_37n	missense	108	39.33	70	SNP	0.405	G
TM9SF3	56889	genome.wustl.edu	37	10	98311125	98311125	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:98311125C>G	ENST00000371142.4	-	7	1052	c.836G>C	c.(835-837)gGa>gCa	p.G279A	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	279						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AAATACATCTCCATGCACCTG	0.353																																						dbGAP											0													182.0	172.0	176.0					10																	98311125		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.836G>C	10.37:g.98311125C>G	ENSP00000360184:p.Gly279Ala		Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	pfam_EMP70	p.G279A	ENST00000371142.4	37	c.836	CCDS7450.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905865	0.92107	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.52295	0.67;0.67	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.87578	0.826;0.998	T	0.76358	-0.2988	10	0.66056	D	0.02	-10.5	18.0329	0.89290	0.0:1.0:0.0:0.0	.	211;279	Q8WUB5;Q9HD45	.;TM9S3_HUMAN	A	279;235	ENSP00000360184:G279A;ENSP00000401152:G235A	ENSP00000360184:G279A	G	-	2	0	TM9SF3	98301115	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.594000	0.82698	2.518000	0.84900	0.650000	0.86243	GGA	TM9SF3	-	pfam_EMP70	ENSG00000077147		0.353	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF3	HGNC	protein_coding	OTTHUMT00000049610.2	104	0.00	0	C	NM_020123		98311125	98311125	-1	no_errors	ENST00000371142	ensembl	human	known	69_37n	missense	77	34.19	40	SNP	1.000	G
TMEM131	23505	genome.wustl.edu	37	2	98388801	98388801	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:98388801G>A	ENST00000186436.5	-	33	4635	c.4407C>T	c.(4405-4407)ctC>ctT	p.L1469L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1469	Lys-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TAATATTTAAGAGTTTTTTGC	0.348																																						dbGAP											0													186.0	170.0	175.0					2																	98388801		1802	4066	5868	-	-	-	SO:0001819	synonymous_variant	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4407C>T	2.37:g.98388801G>A				Silent	SNP	pfam_DUF3651_TMEM131	p.L1469	ENST00000186436.5	37	c.4407	CCDS46368.1	2																																																																																			TMEM131	-	NULL	ENSG00000075568		0.348	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	310	0.32	1	G	XM_371542		98388801	98388801	-1	no_errors	ENST00000186436	ensembl	human	known	69_37n	silent	258	36.98	152	SNP	0.010	A
TMEM135	65084	genome.wustl.edu	37	11	87020587	87020587	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:87020587G>A	ENST00000305494.5	+	10	848	c.809G>A	c.(808-810)tGc>tAc	p.C270Y	TMEM135_ENST00000535167.1_Missense_Mutation_p.C131Y|TMEM135_ENST00000532959.1_Missense_Mutation_p.C141Y|TMEM135_ENST00000340353.7_Missense_Mutation_p.C248Y	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	270					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGATCCAGTGCTGCCTCCGA	0.393																																						dbGAP											0													133.0	135.0	135.0					11																	87020587		2201	4299	6500	-	-	-	SO:0001583	missense	0			BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.809G>A	11.37:g.87020587G>A	ENSP00000306344:p.Cys270Tyr		Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	NULL	p.C270Y	ENST00000305494.5	37	c.809	CCDS8280.1	11	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018982	0.93404	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.72982	0.935;0.979	T	0.45789	-0.9237	9	.	.	.	-8.8918	18.9995	0.92828	0.0:0.0:1.0:0.0	.	248;270	Q86UB9-2;Q86UB9	.;TM135_HUMAN	Y	248;107;141;270;131	ENSP00000345513:C248Y;ENSP00000436179:C141Y;ENSP00000306344:C270Y;ENSP00000439525:C131Y	.	C	+	2	0	TMEM135	86698235	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.765000	0.98953	2.732000	0.93576	0.591000	0.81541	TGC	TMEM135	-	NULL	ENSG00000166575		0.393	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM135	HGNC	protein_coding	OTTHUMT00000393875.1	65	0.00	0	G	NM_022918		87020587	87020587	+1	no_errors	ENST00000305494	ensembl	human	known	69_37n	missense	38	44.12	30	SNP	1.000	A
TMEM165	55858	genome.wustl.edu	37	4	56291562	56291562	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:56291562C>T	ENST00000381334.5	+	6	1151	c.918C>T	c.(916-918)atC>atT	p.I306I	TMEM165_ENST00000542052.1_Silent_p.I243I|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Silent_p.I111I	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	306					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TAGGAGGCATCGTTTTTTTGG	0.338																																						dbGAP											0													232.0	218.0	223.0					4																	56291562		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.918C>T	4.37:g.56291562C>T			A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Silent	SNP	pfam_UPF0016	p.I306	ENST00000381334.5	37	c.918	CCDS3499.1	4																																																																																			TMEM165	-	pfam_UPF0016	ENSG00000134851		0.338	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM165	HGNC	protein_coding	OTTHUMT00000250646.4	213	0.00	0	C	NM_018475		56291562	56291562	+1	no_errors	ENST00000381334	ensembl	human	known	69_37n	silent	232	38.62	146	SNP	1.000	T
TMEM167B	56900	genome.wustl.edu	37	1	109635596	109635596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:109635596delC	ENST00000338272.8	+	2	1165	c.95delC	c.(94-96)accfs	p.T32fs	TMEM167B_ENST00000473828.1_3'UTR|RP5-1065J22.8_ENST00000608574.1_RNA	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	32						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						CGTCTCAAAACCTGGCTGCTA	0.468																																						dbGAP											0													243.0	254.0	250.0					1																	109635596		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0				CCDS30789.1	1p13.3	2008-06-06	2008-06-06	2008-06-06	ENSG00000215717	ENSG00000215717			30187	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 119"""	C1orf119		12477932	Standard	NM_020141		Approved	AD-020, FLJ90710	uc001dwn.3	Q9NRX6	OTTHUMG00000042364	ENST00000338272.8:c.95delC	1.37:g.109635596delC	ENSP00000342148:p.Thr32fs		B2RUU9	Frame_Shift_Del	DEL	pfam_DUF1242	p.W33fs	ENST00000338272.8	37	c.95	CCDS30789.1	1																																																																																			TMEM167B	-	pfam_DUF1242	ENSG00000215717		0.468	TMEM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM167B	HGNC	protein_coding	OTTHUMT00000100611.2	158	0.00	0	C	NM_020141		109635596	109635596	+1	no_errors	ENST00000338272	ensembl	human	known	69_37n	frame_shift_del	174	33.71	90	DEL	1.000	-
TMEM17	200728	genome.wustl.edu	37	2	62728547	62728547	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:62728547C>T	ENST00000335390.5	-	4	605	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	132					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GTTAGGCCTTCATTAAAGAGC	0.388																																						dbGAP											0													96.0	101.0	99.0					2																	62728547		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.394G>A	2.37:g.62728547C>T	ENSP00000335094:p.Glu132Lys		Q53QP7|Q53R98	Missense_Mutation	SNP	pfam_Uncharacterised_TM-17	p.E132K	ENST00000335390.5	37	c.394	CCDS1871.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371923	0.82573	.	.	ENSG00000186889	ENST00000335390	D	0.88354	-2.37	5.8	4.91	0.64330	.	0.367289	0.34178	N	0.004181	D	0.89015	0.6595	M	0.77820	2.39	0.37632	D	0.921724	P	0.35793	0.521	B	0.38378	0.272	D	0.88217	0.2894	10	0.21014	T	0.42	-0.1459	15.1499	0.72689	0.0:0.7322:0.2678:0.0	.	132	Q86X19	TMM17_HUMAN	K	132	ENSP00000335094:E132K	ENSP00000335094:E132K	E	-	1	0	TMEM17	62582051	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.303000	0.59098	1.430000	0.47334	0.650000	0.86243	GAA	TMEM17	-	pfam_Uncharacterised_TM-17	ENSG00000186889		0.388	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM17	HGNC	protein_coding	OTTHUMT00000251618.3	51	0.00	0	C	NM_198276		62728547	62728547	-1	no_errors	ENST00000335390	ensembl	human	known	69_37n	missense	48	40.74	33	SNP	1.000	T
TMEM39A	55254	genome.wustl.edu	37	3	119151002	119151002	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:119151002G>A	ENST00000319172.5	-	9	1713	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	431						integral component of membrane (GO:0016021)		p.V431V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GATAGAAGACGACACTGCCCT	0.383																																						dbGAP											1	Substitution - coding silent(1)	ovary(1)											73.0	67.0	69.0					3																	119151002		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.1293C>T	3.37:g.119151002G>A			D3DN80|Q53FN4|Q53GI1|Q6PKB5	Silent	SNP	pfam_Uncharacterised_TMEM39	p.V431	ENST00000319172.5	37	c.1293	CCDS2987.1	3																																																																																			TMEM39A	-	pfam_Uncharacterised_TMEM39	ENSG00000176142		0.383	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39A	HGNC	protein_coding	OTTHUMT00000354941.3	48	0.00	0	G	NM_018266		119151002	119151002	-1	no_errors	ENST00000319172	ensembl	human	known	69_37n	silent	26	43.48	20	SNP	0.995	A
TMEM53	79639	genome.wustl.edu	37	1	45140034	45140034	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:45140034G>C	ENST00000372237.3	-	1	193	c.30C>G	c.(28-30)atC>atG	p.I10M	TMEM53_ENST00000372242.3_Missense_Mutation_p.I10M|TMEM53_ENST00000372235.3_Missense_Mutation_p.I10M|TMEM53_ENST00000372243.3_Missense_Mutation_p.I10M|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Missense_Mutation_p.I10M|C1orf228_ENST00000535358.1_5'Flank|C1orf228_ENST00000458657.2_5'Flank	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	10						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CCGGGATCTCGATGGTGTAGT	0.667																																						dbGAP											0													60.0	58.0	58.0					1																	45140034		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.30C>G	1.37:g.45140034G>C	ENSP00000361311:p.Ile10Met		B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	pfam_DUF829_TMEM53	p.I10M	ENST00000372237.3	37	c.30	CCDS511.1	1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145544	0.57044	.	.	ENSG00000126106	ENST00000372243;ENST00000372244;ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	4.29	4.29	0.51040	.	0.391760	0.21345	N	0.076071	T	0.50599	0.1625	N	0.08118	0	0.42641	D	0.993418	P;D	0.71674	0.95;0.998	P;D	0.77004	0.65;0.989	T	0.52968	-0.8504	9	0.39692	T	0.17	.	12.5275	0.56096	0.0:0.0:1.0:0.0	.	10;10	Q6P2H8;Q5TDE6	TMM53_HUMAN;.	M	10	.	ENSP00000361309:I10M	I	-	3	3	TMEM53	44912621	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.879000	0.39618	2.676000	0.91093	0.561000	0.74099	ATC	TMEM53	-	NULL	ENSG00000126106		0.667	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM53	HGNC	protein_coding	OTTHUMT00000021599.1	17	0.00	0	G	NM_024587		45140034	45140034	-1	no_errors	ENST00000372237	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	1.000	C
TMEM62	80021	genome.wustl.edu	37	15	43476616	43476616	+	Silent	SNP	T	T	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:43476616T>C	ENST00000260403.2	+	14	2043	c.1764T>C	c.(1762-1764)taT>taC	p.Y588Y	CCNDBP1_ENST00000356633.5_5'Flank|EPB42_ENST00000563128.1_Intron|RP11-473C18.3_ENST00000565685.1_RNA|CCNDBP1_ENST00000300213.4_5'Flank	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	588						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GGCAGGTTTATTCCTGCTACT	0.428																																						dbGAP											0													285.0	274.0	278.0					15																	43476616		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1764T>C	15.37:g.43476616T>C			Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	superfamily_Cadherin-like	p.I485T	ENST00000260403.2	37	c.1454	CCDS32210.1	15																																																																																			TMEM62	-	NULL	ENSG00000137842		0.428	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM62	HGNC	protein_coding	OTTHUMT00000432227.1	60	0.00	0	T	NM_024956		43476616	43476616	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000564494	ensembl	human	novel	69_37n	missense	71	47.79	65	SNP	0.689	C
TMEM74	157753	genome.wustl.edu	37	8	109797208	109797208	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:109797208G>A	ENST00000297459.3	-	2	298	c.120C>T	c.(118-120)ctC>ctT	p.L40L	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	40					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.L40L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCTGACAGCAGAGAGCAGCTC	0.542																																						dbGAP											1	Substitution - coding silent(1)	urinary_tract(1)											81.0	81.0	81.0					8																	109797208		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.120C>T	8.37:g.109797208G>A				Silent	SNP	NULL	p.L40	ENST00000297459.3	37	c.120	CCDS6310.1	8																																																																																			TMEM74	-	NULL	ENSG00000164841		0.542	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	HGNC	protein_coding	OTTHUMT00000380755.1	56	0.00	0	G	NM_153015		109797208	109797208	-1	no_errors	ENST00000297459	ensembl	human	known	69_37n	silent	48	31.43	22	SNP	0.898	A
TMEM80	283232	genome.wustl.edu	37	11	700696	700696	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:700696G>A	ENST00000608174.1	+	4	427	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	TMEM80_ENST00000397510.3_Missense_Mutation_p.R145Q|TMEM80_ENST00000397512.3_Missense_Mutation_p.R89Q	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	97						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGCAGTTCGGTTATACCTG	0.483																																						dbGAP											0													268.0	255.0	259.0					11																	700696		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.290G>A	11.37:g.700696G>A	ENSP00000476563:p.Arg97Gln		A8MQ01|A8MXY8|B7WNU5	Missense_Mutation	SNP	pfam_Uncharacterised_TM-17	p.R97Q	ENST00000608174.1	37	c.290	CCDS41587.1	11	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078000	0.36662	.	.	ENSG00000177042	ENST00000397510;ENST00000397512;ENST00000526170	D;D	0.94232	-3.38;-3.38	3.41	1.39	0.22231	.	0.437579	0.17834	N	0.160433	D	0.89375	0.6697	L	0.61218	1.895	0.09310	N	1	P;P;P	0.48294	0.908;0.795;0.908	B;B;B	0.39419	0.299;0.117;0.299	T	0.81972	-0.0688	10	0.59425	D	0.04	0.5074	6.6454	0.22933	0.1107:0.183:0.7063:0.0	.	72;89;97	E9PQJ9;Q96HE8-2;Q96HE8	.;.;TMM80_HUMAN	Q	97;89;72	ENSP00000380646:R97Q;ENSP00000380648:R89Q	ENSP00000380646:R97Q	R	+	2	0	TMEM80	690696	0.274000	0.24191	0.000000	0.03702	0.007000	0.05969	2.600000	0.46240	0.222000	0.20900	0.491000	0.48974	CGG	TMEM80	-	pfam_Uncharacterised_TM-17	ENSG00000177042		0.483	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM80	HGNC	protein_coding	OTTHUMT00000257104.2	79	0.00	0	G	NM_174940		700696	700696	+1	no_errors	ENST00000397510	ensembl	human	known	69_37n	missense	99	34.44	52	SNP	0.019	A
TMF1	7110	genome.wustl.edu	37	3	69096739	69096739	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:69096739C>T	ENST00000398559.2	-	2	1333	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.A373T|MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	373					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTTCCTTCAGCAGATTCAACT	0.363																																						dbGAP											0													102.0	95.0	97.0					3																	69096739		1851	4088	5939	-	-	-	SO:0001583	missense	0				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1117G>A	3.37:g.69096739C>T	ENSP00000381567:p.Ala373Thr		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.A373T	ENST00000398559.2	37	c.1117	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	C	5.856	0.342126	0.11069	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.77620	-1.11;-1.11	5.86	3.71	0.42584	.	0.951723	0.08953	N	0.869771	T	0.47078	0.1426	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39057	-0.9632	10	0.13470	T	0.59	-2.4312	7.0065	0.24840	0.0:0.6568:0.1464:0.1968	.	373;373	P82094-2;P82094	.;TMF1_HUMAN	T	373;373;286;373	ENSP00000381567:A373T;ENSP00000438706:A373T	ENSP00000348582:A286T	A	-	1	0	TMF1	69179429	0.000000	0.05858	0.891000	0.34965	0.220000	0.24768	0.318000	0.19504	1.264000	0.44198	0.650000	0.86243	GCT	TMF1	-	NULL	ENSG00000144747		0.363	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	54	0.00	0	C	NM_007114		69096739	69096739	-1	no_errors	ENST00000543976	ensembl	human	known	69_37n	missense	47	35.62	26	SNP	0.291	T
TMOD3	29766	genome.wustl.edu	37	15	52155168	52155168	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:52155168G>A	ENST00000308580.7	+	2	368	c.87G>A	c.(85-87)ctG>ctA	p.L29L	TMOD3_ENST00000544199.1_Silent_p.L29L	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	29						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAACAGAACTGAAACAACTGG	0.428																																					Colon(122;1837 2251 18387 22826)	dbGAP											0													126.0	115.0	119.0					15																	52155168		2195	4293	6488	-	-	-	SO:0001819	synonymous_variant	0			AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.87G>A	15.37:g.52155168G>A			B2R6G7|Q9NT43|Q9NZR0	Silent	SNP	pfam_Tropomodulin	p.L29	ENST00000308580.7	37	c.87	CCDS10145.1	15																																																																																			TMOD3	-	pfam_Tropomodulin	ENSG00000138594		0.428	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD3	HGNC	protein_coding	OTTHUMT00000254740.3	46	0.00	0	G			52155168	52155168	+1	no_errors	ENST00000308580	ensembl	human	known	69_37n	silent	55	30.38	24	SNP	1.000	A
TNIK	23043	genome.wustl.edu	37	3	170879087	170879087	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:170879087C>G	ENST00000436636.2	-	11	1332	c.988G>C	c.(988-990)Gag>Cag	p.E330Q	TNIK_ENST00000488470.1_Missense_Mutation_p.E330Q|TNIK_ENST00000284483.8_Missense_Mutation_p.E330Q|TNIK_ENST00000460047.1_Missense_Mutation_p.E330Q|TNIK_ENST00000341852.6_Missense_Mutation_p.E330Q|TNIK_ENST00000538048.1_Missense_Mutation_p.E330Q|TNIK_ENST00000470834.1_Missense_Mutation_p.E330Q|TNIK_ENST00000369326.5_Missense_Mutation_p.E330Q|TNIK_ENST00000357327.5_Missense_Mutation_p.E330Q|TNIK_ENST00000475336.1_Missense_Mutation_p.E330Q	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	330	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)			TTCTCCTCCTCTTCTTCCTCA	0.433																																						dbGAP											0													151.0	155.0	154.0					3																	170879087		1953	4161	6114	-	-	-	SO:0001583	missense	0			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.988G>C	3.37:g.170879087C>G	ENSP00000399511:p.Glu330Gln		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.E330Q	ENST00000436636.2	37	c.988	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863979	0.91511	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	D;D;D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.41	5.41	0.78517	.	0.110195	0.64402	D	0.000007	D	0.90679	0.7076	M	0.73217	2.22	0.80722	D	1	B;B;D;D;B;B;D;B	0.60575	0.277;0.241;0.982;0.988;0.241;0.241;0.982;0.155	P;B;D;D;B;B;D;B	0.69307	0.513;0.192;0.963;0.92;0.192;0.192;0.963;0.094	D	0.91193	0.4985	10	0.87932	D	0	.	19.5484	0.95308	0.0:1.0:0.0:0.0	.	330;330;330;330;330;330;330;330	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	Q	330;330;330;330;330;330;330;330;330;330;304	ENSP00000399511:E330Q;ENSP00000358332:E330Q;ENSP00000443278:E330Q;ENSP00000345352:E330Q;ENSP00000284483:E330Q;ENSP00000418156:E330Q;ENSP00000349880:E330Q;ENSP00000418916:E330Q;ENSP00000418378:E330Q;ENSP00000419990:E330Q;ENSP00000417338:E304Q	ENSP00000284483:E330Q	E	-	1	0	TNIK	172361781	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.792000	0.85828	2.698000	0.92095	0.650000	0.86243	GAG	TNIK	-	NULL	ENSG00000154310		0.433	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	165	0.00	0	C	XM_039796		170879087	170879087	-1	no_errors	ENST00000436636	ensembl	human	known	69_37n	missense	166	36.64	96	SNP	1.000	G
TNKS2	80351	genome.wustl.edu	37	10	93590888	93590888	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:93590888G>C	ENST00000371627.4	+	11	1604	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	409					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CGTGGCATCTGAGAAAGCTCA	0.328																																						dbGAP											0													202.0	195.0	197.0					10																	93590888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1225G>C	10.37:g.93590888G>C	ENSP00000360689:p.Glu409Gln		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.E409Q	ENST00000371627.4	37	c.1225	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757331	0.69648	.	.	ENSG00000107854	ENST00000371627	T	0.65364	-0.15	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000009	T	0.48822	0.1521	N	0.21282	0.65	0.80722	D	1	B	0.24258	0.1	B	0.22152	0.038	T	0.46527	-0.9185	10	0.07644	T	0.81	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	409	Q9H2K2	TNKS2_HUMAN	Q	409	ENSP00000360689:E409Q	ENSP00000360689:E409Q	E	+	1	0	TNKS2	93580868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.718000	0.92993	0.655000	0.94253	GAG	TNKS2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107854		0.328	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	197	0.00	0	G	NM_025235		93590888	93590888	+1	no_errors	ENST00000371627	ensembl	human	known	69_37n	missense	151	39.84	100	SNP	1.000	C
TNNI3	7137	genome.wustl.edu	37	19	55663210	55663210	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:55663210C>T	ENST00000344887.5	-	8	767	c.625G>A	c.(625-627)Gag>Aag	p.E209K	TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000588426.1_5'Flank|TNNT1_ENST00000592920.1_5'Flank|TNNT1_ENST00000588981.1_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNI3_ENST00000588882.1_Missense_Mutation_p.E184K|TNNT1_ENST00000356783.5_5'Flank|TNNT1_ENST00000291901.8_5'Flank|TNNI3_ENST00000590463.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	209					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCTCAGCTCTCAAACTTTTTC	0.557																																						dbGAP											0													133.0	135.0	134.0					19																	55663210		1958	4147	6105	-	-	-	SO:0001583	missense	0			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.625G>A	19.37:g.55663210C>T	ENSP00000341838:p.Glu209Lys			Missense_Mutation	SNP	pfam_Troponin,pfam_Troponin-I_N	p.E209K	ENST00000344887.5	37	c.625	CCDS42628.1	19	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969069	0.92855	.	.	ENSG00000129991	ENST00000344887	D	0.97665	-4.48	4.63	4.63	0.57726	.	0.089539	0.45606	D	0.000358	D	0.98077	0.9366	M	0.79475	2.455	0.48696	D	0.999697	P	0.52842	0.956	P	0.62184	0.899	D	0.99136	1.0854	10	0.87932	D	0	-33.2569	16.6755	0.85278	0.0:1.0:0.0:0.0	.	209	P19429	TNNI3_HUMAN	K	209	ENSP00000341838:E209K	ENSP00000341838:E209K	E	-	1	0	TNNI3	60355022	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.703000	0.68340	2.321000	0.78463	0.485000	0.47835	GAG	TNNI3	-	NULL	ENSG00000129991		0.557	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3	HGNC	protein_coding	OTTHUMT00000452098.1	215	0.00	0	C			55663210	55663210	-1	no_errors	ENST00000344887	ensembl	human	known	69_37n	missense	116	38.95	74	SNP	1.000	T
TPR	7175	genome.wustl.edu	37	1	186295307	186295307	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:186295307C>T	ENST00000367478.4	-	41	6246	c.5950G>A	c.(5950-5952)Gag>Aag	p.E1984K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1984					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		tcttcaccctcatcTCCCATC	0.398			T	NTRK1	papillary thyroid																																	dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	0													134.0	134.0	134.0					1																	186295307		2082	4215	6297	-	-	-	SO:0001583	missense	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5950G>A	1.37:g.186295307C>T	ENSP00000356448:p.Glu1984Lys		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E1984K	ENST00000367478.4	37	c.5950	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397933	0.62177	.	.	ENSG00000047410	ENST00000367478	T	0.35605	1.3	4.27	4.27	0.50696	.	0.146985	0.64402	D	0.000010	T	0.33498	0.0865	M	0.63843	1.955	0.42466	D	0.992805	B	0.25667	0.131	B	0.19666	0.026	T	0.09596	-1.0667	10	0.24483	T	0.36	.	12.4029	0.55422	0.0:0.9142:0.0:0.0858	.	1984	P12270	TPR_HUMAN	K	1984	ENSP00000356448:E1984K	ENSP00000356448:E1984K	E	-	1	0	TPR	184561930	0.907000	0.30839	0.980000	0.43619	0.968000	0.65278	1.688000	0.37690	2.660000	0.90430	0.655000	0.94253	GAG	TPR	-	NULL	ENSG00000047410		0.398	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	66	0.00	0	C	NM_003292		186295307	186295307	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	missense	200	28.06	78	SNP	0.970	T
TP53BP2	7159	genome.wustl.edu	37	1	223990996	223990996	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:223990996C>T	ENST00000343537.7	-	7	1099	c.808G>A	c.(808-810)Gat>Aat	p.D270N	TP53BP2_ENST00000498843.1_5'Flank|TP53BP2_ENST00000391879.2_5'Flank|TP53BP2_ENST00000391878.2_Missense_Mutation_p.D141N	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	264					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TAGAGGCGATCAAGCTCAGCC	0.493																																						dbGAP											0													133.0	127.0	129.0					1																	223990996		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.808G>A	1.37:g.223990996C>T	ENSP00000341957:p.Asp270Asn		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D270N	ENST00000343537.7	37	c.808	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881238	0.91740	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.29917	1.55;1.55	6.06	6.06	0.98353	.	0.041428	0.85682	D	0.000000	T	0.53238	0.1784	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.83275	0.996;0.771	T	0.22452	-1.0216	10	0.18710	T	0.47	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	270;264	B4DG66;Q13625	.;ASPP2_HUMAN	N	141;270	ENSP00000375750:D141N;ENSP00000341957:D270N	ENSP00000341957:D270N	D	-	1	0	TP53BP2	222057619	1.000000	0.71417	0.411000	0.26484	0.443000	0.32047	7.458000	0.80787	2.871000	0.98454	0.655000	0.94253	GAT	TP53BP2	-	NULL	ENSG00000143514		0.493	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	64	0.00	0	C	NM_001031685, NM_005426		223990996	223990996	-1	no_errors	ENST00000343537	ensembl	human	known	69_37n	missense	59	29.76	25	SNP	1.000	T
TRAPPC9	83696	genome.wustl.edu	37	8	141301148	141301148	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:141301148C>T	ENST00000438773.2	-	12	1931	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.E591K|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.E698K	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	600					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGCTGAACTTCACACACATCT	0.358																																						dbGAP											0													170.0	146.0	154.0					8																	141301148		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1798G>A	8.37:g.141301148C>T	ENSP00000405060:p.Glu600Lys		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.E698K	ENST00000438773.2	37	c.2092	CCDS55278.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.509010	0.96386	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	0.984;0.996;1.0;0.99	P;D;D;P	0.72338	0.87;0.929;0.977;0.81	T	0.77127	-0.2702	9	0.38643	T	0.18	.	18.9153	0.92503	0.0:1.0:0.0:0.0	.	698;600;591;698	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	K	698;591;600	.	ENSP00000373978:E591K	E	-	1	0	TRAPPC9	141370330	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.212000	0.77941	2.484000	0.83849	0.561000	0.74099	GAA	TRAPPC9	-	NULL	ENSG00000167632		0.358	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	179	0.00	0	C	NM_031466		141301148	141301148	-1	no_errors	ENST00000389328	ensembl	human	known	69_37n	missense	87	40.82	60	SNP	1.000	T
TRIM33	51592	genome.wustl.edu	37	1	114944049	114944049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:114944049C>A	ENST00000358465.2	-	17	3012	c.2929G>T	c.(2929-2931)Gaa>Taa	p.E977*	TRIM33_ENST00000450349.2_Nonsense_Mutation_p.E609*|TRIM33_ENST00000476908.1_5'Flank|TRIM33_ENST00000369543.2_Nonsense_Mutation_p.E977*	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	977	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATACTTAATTCATGGCAATAG	0.413			T	RET	papillary thyroid																																	dbGAP		Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0													72.0	70.0	71.0					1																	114944049		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2929G>T	1.37:g.114944049C>A	ENSP00000351250:p.Glu977*		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,prints_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain	p.E977*	ENST00000358465.2	37	c.2929	CCDS872.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.231693|7.231693	0.98150|0.98150	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76779	.|0.4035	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73030	.|-0.4111	.|3	0.72032|.	D|.	0.01|.	-19.1461|-19.1461	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	977;977;609|737	.|.	ENSP00000351250:E977X|.	E|M	-|-	1|3	0|0	TRIM33|TRIM33	114745572|114745572	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.411000|7.411000	0.80078|0.80078	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|ATG	TRIM33	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000197323		0.413	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	49	0.00	0	C	NM_015906		114944049	114944049	-1	no_errors	ENST00000358465	ensembl	human	known	69_37n	nonsense	46	35.21	25	SNP	1.000	A
TRIM47	91107	genome.wustl.edu	37	17	73872004	73872004	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr17:73872004C>T	ENST00000254816.2	-	4	1205	c.1179G>A	c.(1177-1179)ggG>ggA	p.G393G	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Silent_p.G155G	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	393						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCTGTGGCCCATCCTCGT	0.682																																						dbGAP											0													37.0	33.0	34.0					17																	73872004		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1179G>A	17.37:g.73872004C>T			Q96AD0|Q96GU5|Q9BRN7	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.G393	ENST00000254816.2	37	c.1179	CCDS32737.1	17																																																																																			TRIM47	-	NULL	ENSG00000132481		0.682	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM47	HGNC	protein_coding	OTTHUMT00000448934.1	10	0.00	0	C			73872004	73872004	-1	no_errors	ENST00000254816	ensembl	human	known	69_37n	silent	15	42.31	11	SNP	0.000	T
TRIM49	57093	genome.wustl.edu	37	11	89537238	89537238	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr11:89537238C>G	ENST00000329758.1	-	3	728	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	TRIM49_ENST00000532501.2_Missense_Mutation_p.E134Q	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	134						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CGGTGTTCCTCAGCAGCCCAC	0.488																																						dbGAP											0													22.0	21.0	21.0					11																	89537238		1983	3973	5956	-	-	-	SO:0001583	missense	0			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.400G>C	11.37:g.89537238C>G	ENSP00000327604:p.Glu134Gln		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E134Q	ENST00000329758.1	37	c.400	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	C	6.984	0.551524	0.13374	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.57273	0.41	0.821	-0.247	0.13019	.	.	.	.	.	T	0.64627	0.2615	M	0.76938	2.355	0.09310	N	1	D	0.69078	0.997	D	0.68353	0.957	T	0.52381	-0.8583	8	.	.	.	.	3.2817	0.06917	0.0:0.6705:0.0:0.3295	.	134	P0CI25	TRI49_HUMAN	Q	134	ENSP00000327604:E134Q	.	E	-	1	0	TRIM49	89176886	0.089000	0.21612	0.006000	0.13384	0.199000	0.23934	-0.025000	0.12413	-0.076000	0.12775	0.194000	0.17425	GAG	TRIM49	-	NULL	ENSG00000168930		0.488	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1	23	0.00	0	C	NM_020358		89537238	89537238	-1	no_errors	ENST00000329758	ensembl	human	known	69_37n	missense	18	45.71	16	SNP	0.012	G
TRIM73	375593	genome.wustl.edu	37	7	75024709	75024709	+	5'Flank	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:75024709C>G	ENST00000323819.3	+	0	0				AC006014.8_ENST00000275590.5_RNA|TRIM73_ENST00000447409.2_5'Flank|TRIM73_ENST00000430211.1_5'Flank|STAG3L1_ENST00000402225.5_RNA|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000450434.1_5'UTR	NM_198924.2	NP_944606.2	Q86UV7	TRI73_HUMAN	tripartite motif containing 73							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGGAGGCACTCATCGTTTCGT	0.642																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7			7.37:g.75024709C>G	Exception_encountered		Q8N0S3	RNA	SNP	-	NULL	ENST00000323819.3	37	NULL	CCDS34665.1	7																																																																																			TRIM73	-	-	ENSG00000178809		0.642	TRIM73-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM73	HGNC	protein_coding		28	0.00	0	C			75024709	75024709	+1	no_errors	ENST00000463766	ensembl	human	putative	69_37n	rna	6	50.00	6	SNP	0.235	G
TRIP11	9321	genome.wustl.edu	37	14	92482143	92482143	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:92482143C>G	ENST00000267622.4	-	6	1093	c.720G>C	c.(718-720)caG>caC	p.Q240H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	240					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GGTGTGCATTCTGCAGTACTG	0.328			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	dbGAP		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													157.0	134.0	142.0					14																	92482143		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.720G>C	14.37:g.92482143C>G	ENSP00000267622:p.Gln240His		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.Q240H	ENST00000267622.4	37	c.720	CCDS9899.1	14	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138244	0.56936	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.65364	-0.15	4.9	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.74997	0.3790	M	0.77103	2.36	0.33768	D	0.622692	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	T	0.79417	-0.1812	10	0.52906	T	0.07	.	8.6995	0.34316	0.0:0.6228:0.0:0.3772	.	5;240	F5H1Z0;Q15643	.;TRIPB_HUMAN	H	240;5	ENSP00000267622:Q240H	ENSP00000267622:Q240H	Q	-	3	2	TRIP11	91551896	1.000000	0.71417	0.992000	0.48379	0.635000	0.38103	1.533000	0.36040	0.584000	0.29591	0.555000	0.69702	CAG	TRIP11	-	NULL	ENSG00000100815		0.328	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	92	0.00	0	C			92482143	92482143	-1	no_errors	ENST00000267622	ensembl	human	known	69_37n	missense	130	37.32	78	SNP	1.000	G
TRPM2	7226	genome.wustl.edu	37	21	45821618	45821618	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr21:45821618C>T	ENST00000397928.1	+	16	2821	c.2376C>T	c.(2374-2376)ttC>ttT	p.F792F	TRPM2_ENST00000300482.5_Silent_p.F792F|TRPM2_ENST00000397932.2_Silent_p.F792F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.F772F	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	792					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTGCCTTCTTCACCGCACCCG	0.652																																						dbGAP											0													223.0	173.0	190.0					21																	45821618		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2376C>T	21.37:g.45821618C>T			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.F792	ENST00000397928.1	37	c.2376	CCDS13710.1	21																																																																																			TRPM2	-	NULL	ENSG00000142185		0.652	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	14	0.00	0	C	NM_003307		45821618	45821618	+1	no_errors	ENST00000300482	ensembl	human	known	69_37n	silent	36	53.85	42	SNP	0.988	T
TRPM3	80036	genome.wustl.edu	37	9	73151072	73151072	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:73151072C>T	ENST00000377110.3	-	25	5164	c.4921G>A	c.(4921-4923)Gag>Aag	p.E1641K	TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1500K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1645K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1513K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1500K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1668K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1503K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1490K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1503K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1513K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1500K			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1666					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTGGCTCCTCTGCCGAGTAG	0.537																																						dbGAP											0													387.0	367.0	373.0					9																	73151072		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4921G>A	9.37:g.73151072C>T	ENSP00000366314:p.Glu1641Lys		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E1668K	ENST00000377110.3	37	c.5002	CCDS43835.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.853447|2.853447	0.51270|0.51270	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T|.	0.56103|.	0.56;0.51;0.51;0.48;0.56;0.48;0.51;0.51;0.51;0.56|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.178319|.	0.48767|.	D|.	0.000177|.	T|T	0.56863|0.56863	0.2014|0.2014	N|N	0.24115|0.24115	0.695|0.695	0.52099|0.52099	D|D	0.99994|0.99994	B;B;B;B;B;B;B|.	0.34290|.	0.447;0.027;0.18;0.155;0.241;0.241;0.155|.	B;B;B;B;B;B;B|.	0.26969|.	0.075;0.037;0.025;0.023;0.051;0.051;0.023|.	T|T	0.49698|0.49698	-0.8912|-0.8912	10|5	0.07175|.	T|.	0.84|.	-23.3367|-23.3367	19.9981|19.9981	0.97395|0.97395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1641;1631;1645;1503;1500;1613;1500|.	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.|.	K|K	1641;1513;1503;1500;1645;1500;1500;1513;1503;1668|1489	ENSP00000366314:E1641K;ENSP00000366310:E1513K;ENSP00000354066:E1503K;ENSP00000366309:E1500K;ENSP00000350140:E1645K;ENSP00000386127:E1500K;ENSP00000379581:E1500K;ENSP00000379587:E1513K;ENSP00000350791:E1503K;ENSP00000389542:E1668K|.	ENSP00000350140:E1645K|.	E|R	-|-	1|2	0|0	TRPM3|TRPM3	72340892|72340892	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.974000|0.974000	0.67602|0.67602	7.294000|7.294000	0.78760|0.78760	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAG|AGA	TRPM3	-	NULL	ENSG00000083067		0.537	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214158.3	122	0.00	0	C	NM_206945		73151072	73151072	-1	no_errors	ENST00000423814	ensembl	human	known	69_37n	missense	71	43.31	55	SNP	1.000	T
TRPS1	7227	genome.wustl.edu	37	8	116426596	116426596	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:116426596C>T	ENST00000220888.5	-	6	3660	c.3501G>A	c.(3499-3501)gcG>gcA	p.A1167A	TRPS1_ENST00000519076.1_Silent_p.A921A|TRPS1_ENST00000520276.1_Silent_p.A1171A|TRPS1_ENST00000395715.3_Silent_p.A1180A			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1167	Mediates interaction with RNF4. {ECO:0000250}.|Transcriptional repressor domain. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AATGCTTGATCGCCAAATCTA	0.448									Langer-Giedion syndrome																													dbGAP											0													82.0	80.0	81.0					8																	116426596		1957	4147	6104	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3501G>A	8.37:g.116426596C>T			B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.A1180	ENST00000220888.5	37	c.3540		8																																																																																			TRPS1	-	NULL	ENSG00000104447		0.448	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	74	0.00	0	C	NM_014112		116426596	116426596	-1	no_errors	ENST00000395715	ensembl	human	known	69_37n	silent	70	30.69	31	SNP	1.000	T
TSC22D2	9819	genome.wustl.edu	37	3	150127629	150127629	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:150127629G>A	ENST00000361875.3	+	1	1508	c.492G>A	c.(490-492)gtG>gtA	p.V164V	TSC22D2_ENST00000361136.2_Silent_p.V164V	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	164					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTTTTCGCGTGATCAAGCTGG	0.627																																						dbGAP											0													80.0	82.0	81.0					3																	150127629		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.492G>A	3.37:g.150127629G>A			D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Silent	SNP	pfam_TSC-22_Dip_Bun	p.V164	ENST00000361875.3	37	c.492	CCDS3149.1	3																																																																																			TSC22D2	-	NULL	ENSG00000196428		0.627	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	TSC22D2	HGNC	protein_coding	OTTHUMT00000357123.2	8	0.00	0	G	NM_014779		150127629	150127629	+1	no_errors	ENST00000361875	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	0.997	A
TSHZ3	57616	genome.wustl.edu	37	19	31768267	31768267	+	Missense_Mutation	SNP	G	G	A	rs200018669		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:31768267G>A	ENST00000240587.4	-	2	2759	c.2432C>T	c.(2431-2433)aCg>aTg	p.T811M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	811					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCTGTGGACGTGGGTGACAG	0.542																																						dbGAP											0													110.0	93.0	98.0					19																	31768267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2432C>T	19.37:g.31768267G>A	ENSP00000240587:p.Thr811Met		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.T811M	ENST00000240587.4	37	c.2432	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045410	0.55110	.	.	ENSG00000121297	ENST00000240587	T	0.13538	2.58	5.37	5.37	0.77165	.	0.214579	0.47852	D	0.000219	T	0.10465	0.0256	N	0.08118	0	0.48975	D	0.999733	P	0.35433	0.501	B	0.36885	0.235	T	0.25152	-1.0140	10	0.66056	D	0.02	-11.9155	19.1085	0.93307	0.0:0.0:1.0:0.0	.	811	Q63HK5	TSH3_HUMAN	M	811	ENSP00000240587:T811M	ENSP00000240587:T811M	T	-	2	0	TSHZ3	36460107	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.263000	0.72521	2.501000	0.84356	0.655000	0.94253	ACG	TSHZ3	-	NULL	ENSG00000121297		0.542	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	137	0.00	0	G	NM_020856		31768267	31768267	-1	no_errors	ENST00000240587	ensembl	human	known	69_37n	missense	62	39.22	40	SNP	1.000	A
CENPT	80152	genome.wustl.edu	37	16	67861660	67861660	+	IGR	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:67861660G>C	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.E566Q|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.E635Q|CENPT_ENST00000562947.1_5'Flank|TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.E581Q	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GGGCAGCCATGAGGAAGTGAC	0.627																																						dbGAP											0													55.0	53.0	53.0					16																	67861660		2198	4300	6498	-	-	-	SO:0001628	intergenic_variant	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67861660G>C			Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	NULL	p.E581Q	ENST00000562787.1	37	c.1741	CCDS42182.1	16	.	.	.	.	.	.	.	.	.	.	G	9.621	1.133923	0.21123	.	.	ENSG00000102904	ENST00000415766;ENST00000388833	.	.	.	5.5	-3.26	0.05064	.	1.938660	0.01759	N	0.030450	T	0.33147	0.0853	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.15141	0.007;0.004;0.012;0.004	B;B;B;B	0.11329	0.006;0.004;0.006;0.002	T	0.08806	-1.0704	9	0.18710	T	0.47	3.0813	6.1443	0.20276	0.4548:0.2474:0.2979:0.0	.	566;635;289;581	E7ENJ7;B4DXD0;Q2TAA8-2;Q2TAA8	.;.;.;TXIP1_HUMAN	Q	566;581	.	ENSP00000373485:E581Q	E	+	1	0	TSNAXIP1	66419161	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.160000	0.16462	-0.710000	0.05001	-0.291000	0.09656	GAG	TSNAXIP1	-	NULL	ENSG00000102904		0.627	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAXIP1	HGNC	protein_coding	OTTHUMT00000422020.1	35	0.00	0	G	NM_025082		67861660	67861660	+1	no_errors	ENST00000388833	ensembl	human	known	69_37n	missense	16	38.46	10	SNP	0.000	C
TSPAN9	10867	genome.wustl.edu	37	12	3388205	3388205	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:3388205C>T	ENST00000011898.5	+	5	464	c.303C>T	c.(301-303)ctC>ctT	p.L101L	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000407263.1_Silent_p.L101L|TSPAN9_ENST00000537971.1_Silent_p.L101L	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	101						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TGATCTTACTCATCCTCTTCT	0.532																																						dbGAP											0													219.0	171.0	187.0					12																	3388205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.303C>T	12.37:g.3388205C>T			D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L101	ENST00000011898.5	37	c.303	CCDS8520.1	12																																																																																			TSPAN9	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000011105		0.532	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN9	HGNC	protein_coding	OTTHUMT00000317606.2	93	0.00	0	C	NM_006675		3388205	3388205	+1	no_errors	ENST00000011898	ensembl	human	known	69_37n	silent	108	37.93	66	SNP	0.999	T
TSPAN19	144448	genome.wustl.edu	37	12	85411253	85411253	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr12:85411253C>T	ENST00000532498.2	-	7	656	c.576G>A	c.(574-576)ctG>ctA	p.L192L	TSPAN19_ENST00000547403.2_5'Flank	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	192						integral component of membrane (GO:0016021)				ovary(1)	1						AAGTTGCATTCAGTGGCTCAT	0.328																																						dbGAP											0													92.0	85.0	87.0					12																	85411253		1837	4089	5926	-	-	-	SO:0001819	synonymous_variant	0				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.576G>A	12.37:g.85411253C>T				Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L192	ENST00000532498.2	37	c.576	CCDS44949.1	12																																																																																			TSPAN19	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000231738		0.328	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN19	HGNC	protein_coding	OTTHUMT00000388240.2	66	0.00	0	C	NM_001100917		85411253	85411253	-1	no_errors	ENST00000532498	ensembl	human	known	69_37n	silent	71	32.38	34	SNP	1.000	T
TTC39A	22996	genome.wustl.edu	37	1	51756244	51756244	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:51756244G>A	ENST00000447632.2	-	15	1476	c.1428C>T	c.(1426-1428)ctC>ctT	p.L476L	TTC39A_ENST00000262675.7_Silent_p.L413L|TTC39A_ENST00000371750.5_Silent_p.L441L|TTC39A_ENST00000530004.1_Silent_p.L84L|TTC39A_ENST00000451380.1_Silent_p.L440L|TTC39A_ENST00000413473.2_Silent_p.L444L|TTC39A_ENST00000534098.1_5'UTR			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	476								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TCCCATCCGTGAGTTTCGGCT	0.547																																						dbGAP											2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											76.0	76.0	76.0					1																	51756244		1929	4127	6056	-	-	-	SO:0001819	synonymous_variant	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1428C>T	1.37:g.51756244G>A			B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Silent	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.L476	ENST00000447632.2	37	c.1428		1																																																																																			TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.547	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	61	0.00	0	G			51756244	51756244	-1	no_errors	ENST00000447632	ensembl	human	known	69_37n	silent	96	24.41	31	SNP	0.999	A
TTN	7273	genome.wustl.edu	37	2	179396528	179396528	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:179396528C>T	ENST00000591111.1	-	308	100115	c.99891G>A	c.(99889-99891)ctG>ctA	p.L33297L	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Silent_p.L26065L|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.L25998L|TTN_ENST00000460472.2_Silent_p.L25873L|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Silent_p.L34938L|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Silent_p.L32370L|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33297					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCATGGTCCAGTGTGAAAG	0.433																																						dbGAP											0													67.0	67.0	67.0					2																	179396528		1996	4159	6155	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99891G>A	2.37:g.179396528C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L32370	ENST00000591111.1	37	c.97110		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	94	0.00	0	C	NM_133378		179396528	179396528	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	26	51.85	28	SNP	0.990	T
TTN	7273	genome.wustl.edu	37	2	179422711	179422711	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:179422711C>T	ENST00000591111.1	-	278	82671	c.82447G>A	c.(82447-82449)Ggt>Agt	p.G27483S	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20251S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20184S|TTN_ENST00000460472.2_Missense_Mutation_p.G20059S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G29124S|TTN_ENST00000342992.6_Missense_Mutation_p.G26556S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27483					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTTGTACCACTGGAGTTG	0.423																																						dbGAP											0													156.0	155.0	155.0					2																	179422711		1929	4135	6064	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82447G>A	2.37:g.179422711C>T	ENSP00000465570:p.Gly27483Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G26556S	ENST00000591111.1	37	c.79666		2	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848828	0.71603	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.89805	0.6821	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91197	0.4988	9	0.87932	D	0	.	20.0396	0.97574	0.0:1.0:0.0:0.0	.	20059;20184;20251;27483	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	26556;20059;20251;20184;20056	ENSP00000343764:G26556S;ENSP00000434586:G20059S;ENSP00000340554:G20251S;ENSP00000352154:G20184S	ENSP00000340554:G20251S	G	-	1	0	TTN	179130957	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.818000	0.86416	2.814000	0.96858	0.563000	0.77884	GGT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	35	0.00	0	C	NM_133378		179422711	179422711	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	37	40.32	25	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179442812	179442812	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:179442812delT	ENST00000591111.1	-	272	63731	c.63507delA	c.(63505-63507)gaafs	p.E21169fs	TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.E13937fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.E13870fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.E13745fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.E22810fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.E20242fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21169	Fibronectin type-III 53. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCAAGACCTTCAGTTAATC	0.443																																						dbGAP											0													133.0	124.0	127.0					2																	179442812		1889	4121	6010	-	-	-	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63507delA	2.37:g.179442812delT	ENSP00000465570:p.Glu21169fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G20243fs	ENST00000591111.1	37	c.60726		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	38	0.00	0	T	NM_133378		179442812	179442812	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	frame_shift_del	91	32.35	44	DEL	1.000	-
TTN	7273	genome.wustl.edu	37	2	179449955	179449955	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:179449955C>T	ENST00000591111.1	-	259	59817	c.59593G>A	c.(59593-59595)Gaa>Aaa	p.E19865K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12633K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12566K|TTN_ENST00000460472.2_Missense_Mutation_p.E12441K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21506K|TTN_ENST00000342992.6_Missense_Mutation_p.E18938K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19865	Ig-like 110.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGACAACTTCATCTTCTCCT	0.433																																						dbGAP											0													328.0	300.0	309.0					2																	179449955		1899	4132	6031	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59593G>A	2.37:g.179449955C>T	ENSP00000465570:p.Glu19865Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E18938K	ENST00000591111.1	37	c.56812		2	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444899	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	6.17	5.26	0.73747	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64875	0.2638	L	0.43646	1.37	0.30637	N	0.75689	B;B;B;B	0.15141	0.012;0.012;0.012;0.012	B;B;B;B	0.21917	0.02;0.02;0.037;0.037	T	0.64071	-0.6493	9	0.87932	D	0	.	19.2563	0.93947	0.0:0.8778:0.1222:0.0	.	12441;12566;12633;19865	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	18938;12441;12633;12566;12439	ENSP00000343764:E18938K;ENSP00000434586:E12441K;ENSP00000340554:E12633K;ENSP00000352154:E12566K	ENSP00000340554:E12633K	E	-	1	0	TTN	179158201	1.000000	0.71417	0.955000	0.39395	0.970000	0.65996	4.861000	0.62969	2.941000	0.99782	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	193	0.00	0	C	NM_133378		179449955	179449955	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	180	38.98	115	SNP	0.878	T
TTN	7273	genome.wustl.edu	37	2	179507028	179507028	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:179507028C>G	ENST00000591111.1	-	169	35795	c.35571G>C	c.(35569-35571)aaG>aaC	p.K11857N	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K4625N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K4558N|TTN_ENST00000460472.2_Missense_Mutation_p.K4433N|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K13498N|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K10930N			Q8WZ42	TITIN_HUMAN	titin	11857	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCGAACTTTCTTTTCACCTC	0.333																																						dbGAP											0													52.0	47.0	49.0					2																	179507028		1805	4066	5871	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35571G>C	2.37:g.179507028C>G	ENSP00000465570:p.Lys11857Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K10930N	ENST00000591111.1	37	c.32790		2	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487578	0.64074	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.68331	-0.32;0.11;0.14;0.09	5.55	5.55	0.83447	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.78892	0.4355	L	0.46157	1.445	0.40076	D	0.976078	D;D;D;D;D	0.89917	0.998;0.998;0.998;0.998;1.0	D;D;D;D;D	0.85130	0.987;0.987;0.987;0.987;0.997	T	0.80652	-0.1287	9	0.87932	D	0	.	19.494	0.95064	0.0:1.0:0.0:0.0	.	4433;4558;4625;11857;10624	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	N	10930;4433;4625;4558;4433;819;157	ENSP00000343764:K10930N;ENSP00000434586:K4433N;ENSP00000340554:K4625N;ENSP00000352154:K4558N	ENSP00000340554:K4625N	K	-	3	2	TTN	179215273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.066000	0.64351	2.610000	0.88304	0.591000	0.81541	AAG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	25	0.00	0	C	NM_133378		179507028	179507028	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	66	28.72	27	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179599238	179599238	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:179599238C>G	ENST00000591111.1	-	50	14586	c.14362G>C	c.(14362-14364)Gaa>Caa	p.E4788Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E5105Q|TTN_ENST00000342992.6_Missense_Mutation_p.E3861Q|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12168	Ig-like 28.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTAATTTCAAATGGTCCA	0.383																																						dbGAP											0													87.0	87.0	87.0					2																	179599238		1849	4106	5955	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14362G>C	2.37:g.179599238C>G	ENSP00000465570:p.Glu4788Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E3861Q	ENST00000591111.1	37	c.11581		2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533240	0.45073	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73385	0.3580	N	0.25426	0.745	0.80722	D	1	D	0.69078	0.997	D	0.65323	0.934	T	0.76119	-0.3076	9	0.87932	D	0	.	19.9731	0.97292	0.0:1.0:0.0:0.0	.	4788	Q8WZ42	TITIN_HUMAN	Q	3861	ENSP00000343764:E3861Q	ENSP00000343764:E3861Q	E	-	1	0	TTN	179307483	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.487000	0.81328	2.715000	0.92844	0.563000	0.77884	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	17	0.00	0	C	NM_133378		179599238	179599238	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	23	51.06	24	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179641336	179641336	+	Missense_Mutation	SNP	C	C	T	rs150737838		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:179641336C>T	ENST00000591111.1	-	28	5479	c.5255G>A	c.(5254-5256)cGt>cAt	p.R1752H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1706H|TTN_ENST00000360870.5_Missense_Mutation_p.R1752H|TTN_ENST00000359218.5_Missense_Mutation_p.R1706H|TTN_ENST00000460472.2_Missense_Mutation_p.R1706H|TTN_ENST00000589042.1_Missense_Mutation_p.R1752H|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1752H|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12584	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGATCATACGGAGCCTGTT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19405	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													69.0	62.0	64.0					2																	179641336		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5255G>A	2.37:g.179641336C>T	ENSP00000465570:p.Arg1752His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R1752H	ENST00000591111.1	37	c.5255		2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.20	2.166946	0.38217	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76877	0.4049	L	0.41079	1.255	0.38775	D	0.954622	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.80984	-0.1138	9	0.87932	D	0	.	18.3911	0.90484	0.0:1.0:0.0:0.0	.	1706;1706;1706;1752;1752	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1752;1706;1706;1706;1706;1752	ENSP00000343764:R1752H;ENSP00000434586:R1706H;ENSP00000340554:R1706H;ENSP00000352154:R1706H;ENSP00000354117:R1752H	ENSP00000340554:R1706H	R	-	2	0	TTN	179349581	1.000000	0.71417	0.980000	0.43619	0.972000	0.66771	4.864000	0.62990	2.363000	0.80096	0.561000	0.74099	CGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	30	0.00	0	C	NM_133378		179641336	179641336	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	22	47.62	20	SNP	0.999	T
TUBB	203068	genome.wustl.edu	37	6	30692166	30692166	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:30692166G>C	ENST00000327892.8	+	4	1633	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q	TUBB_ENST00000396389.1_Missense_Mutation_p.E425Q|TUBB_ENST00000330914.3_Missense_Mutation_p.E371Q|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_Missense_Mutation_p.E371Q|TUBB_ENST00000435534.1_Missense_Mutation_p.E242Q	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	443					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GGCCGAAGAGGAGGCCTAAGG	0.562																																						dbGAP											0													34.0	28.0	30.0					6																	30692166		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.1327G>C	6.37:g.30692166G>C	ENSP00000339001:p.Glu443Gln		P05218|Q8WUC1|Q9CY33	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.E443Q	ENST00000327892.8	37	c.1327	CCDS4687.1	6	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996465	0.35226	.	.	ENSG00000196230	ENST00000327892;ENST00000422827;ENST00000435534;ENST00000330914;ENST00000396389;ENST00000396384	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	4.62	4.62	0.57501	.	0.000000	0.38548	N	0.001656	T	0.49270	0.1547	N	0.16478	0.41	0.33945	D	0.643735	P	0.39094	0.659	B	0.42959	0.403	T	0.62946	-0.6746	10	0.87932	D	0	.	14.9965	0.71436	0.0:0.0:1.0:0.0	.	443	P07437	TBB5_HUMAN	Q	443;352;242;371;425;371	ENSP00000339001:E443Q;ENSP00000391672:E242Q;ENSP00000365578:E371Q;ENSP00000379672:E425Q;ENSP00000379668:E371Q	ENSP00000339001:E443Q	E	+	1	0	TUBB	30800145	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.479000	0.81095	2.402000	0.81655	0.591000	0.81541	GAG	TUBB	-	NULL	ENSG00000196230		0.562	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB	HGNC	protein_coding	OTTHUMT00000076074.2	24	0.00	0	G	NM_178014		30692166	30692166	+1	no_errors	ENST00000327892	ensembl	human	known	69_37n	missense	14	41.67	10	SNP	1.000	C
TUBGCP4	27229	genome.wustl.edu	37	15	43678117	43678117	+	Missense_Mutation	SNP	G	G	C	rs147411843		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:43678117G>C	ENST00000260383.7	+	8	1106	c.852G>C	c.(850-852)caG>caC	p.Q284H	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.Q148H|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.Q284H			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	284					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AATCTGTCCAGATGTTTGAGA	0.408																																						dbGAP											0													80.0	76.0	77.0					15																	43678117		1892	4118	6010	-	-	-	SO:0001583	missense	0			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.852G>C	15.37:g.43678117G>C	ENSP00000260383:p.Gln284His		B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.Q284H	ENST00000260383.7	37	c.852		15	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560386	0.45590	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.08634	3.07;3.07	5.74	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	L	0.28274	0.84	0.50632	D	0.999883	B;B	0.24963	0.115;0.094	B;B	0.26094	0.066;0.039	T	0.28427	-1.0044	10	0.38643	T	0.18	-18.3147	12.6307	0.56655	0.1404:0.0:0.8596:0.0	.	284;284	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	H	284;148	ENSP00000260383:Q284H;ENSP00000382387:Q148H	ENSP00000260383:Q284H	Q	+	3	2	TUBGCP4	41465409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.444000	0.52914	1.537000	0.49254	0.561000	0.74099	CAG	TUBGCP4	-	pfam_Spc97_Spc98	ENSG00000137822		0.408	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	116	0.00	0	G	NM_014444		43678117	43678117	+1	no_errors	ENST00000260383	ensembl	human	known	69_37n	missense	44	37.14	26	SNP	1.000	C
TXK	7294	genome.wustl.edu	37	4	48096222	48096222	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:48096222C>T	ENST00000264316.4	-	8	667		c.e8-1		TXK_ENST00000510457.1_Splice_Site	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase						activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CTCCGTACTTCTACAATCAAG	0.373																																						dbGAP											0													88.0	81.0	84.0					4																	48096222		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.582-1G>A	4.37:g.48096222C>T			Q14220	Splice_Site	SNP	-	e8-1	ENST00000264316.4	37	c.582-1	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126856	0.37533	.	.	ENSG00000074966	ENST00000264316	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0265	0.47748	0.0:0.9151:0.0:0.0849	.	.	.	.	.	-1	.	.	.	-	.	.	TXK	47790979	0.994000	0.37717	0.365000	0.25901	0.011000	0.07611	2.827000	0.48112	2.711000	0.92665	0.650000	0.86243	.	TXK	-	-	ENSG00000074966		0.373	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	95	0.00	0	C	NM_003328	Intron	48096222	48096222	-1	no_errors	ENST00000264316	ensembl	human	known	69_37n	splice_site	40	44.44	32	SNP	0.813	T
TXNDC2	84203	genome.wustl.edu	37	18	9887951	9887951	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr18:9887951C>T	ENST00000306084.6	+	2	1674	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	TXNDC2_ENST00000357775.5_Missense_Mutation_p.A425V|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	492	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TTCTTCCATGCCCTGTCTGTG	0.582																																						dbGAP											0													115.0	89.0	98.0					18																	9887951		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1475C>T	18.37:g.9887951C>T	ENSP00000304908:p.Ala492Val		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.A492V	ENST00000306084.6	37	c.1475	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733362	0.30684	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.03496	3.91;3.91	4.05	1.26	0.21427	Thioredoxin domain (1);Thioredoxin-like fold (3);	1.075560	0.07105	N	0.841098	T	0.08088	0.0202	L	0.60455	1.87	0.23162	N	0.998192	D	0.57257	0.979	P	0.52343	0.696	T	0.30937	-0.9961	9	.	.	.	-3.9924	3.2843	0.06926	0.207:0.5748:0.0:0.2182	.	492	Q86VQ3	TXND2_HUMAN	V	290;425;492;477	ENSP00000350419:A425V;ENSP00000304908:A492V	.	A	+	2	0	TXNDC2	9877951	0.000000	0.05858	0.211000	0.23655	0.003000	0.03518	-0.235000	0.09016	0.261000	0.21753	-0.188000	0.12872	GCC	TXNDC2	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000168454		0.582	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	50	0.00	0	C			9887951	9887951	+1	no_errors	ENST00000306084	ensembl	human	known	69_37n	missense	10	60.00	15	SNP	0.217	T
TXNDC5	81567	genome.wustl.edu	37	6	7889793	7889793	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:7889793C>G	ENST00000379757.4	-	6	791	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	TXNDC5_ENST00000539054.1_Missense_Mutation_p.E180Q|TXNDC5_ENST00000473453.1_Missense_Mutation_p.E144Q|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	252	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					GAGCAGAGTTCATAGTGCTGT	0.448																																					Ovarian(119;1430 1625 3928 26125 34589)	dbGAP											0													74.0	72.0	72.0					6																	7889793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.754G>C	6.37:g.7889793C>G	ENSP00000369081:p.Glu252Gln		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.E252Q	ENST00000379757.4	37	c.754	CCDS4505.1	6	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909790	0.33721	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.40476	1.03;1.03;1.03	5.52	4.64	0.57946	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.138230	0.64402	D	0.000004	T	0.17831	0.0428	N	0.19112	0.55	0.42098	D	0.991321	B;B	0.30763	0.002;0.294	B;B	0.34093	0.038;0.175	T	0.04781	-1.0927	10	0.30854	T	0.27	.	16.51	0.84282	0.0:0.8693:0.1307:0.0	.	180;252	Q86UY0;Q8NBS9	.;TXND5_HUMAN	Q	180;252;144	ENSP00000442453:E180Q;ENSP00000369081:E252Q;ENSP00000420784:E144Q	ENSP00000442453:E180Q	E	-	1	0	TXNDC5	7834792	1.000000	0.71417	0.006000	0.13384	0.817000	0.46193	4.376000	0.59556	1.294000	0.44707	0.561000	0.74099	GAA	TXNDC5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase	ENSG00000239264		0.448	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	23	0.00	0	C	NM_030810		7889793	7889793	-1	no_errors	ENST00000379757	ensembl	human	known	69_37n	missense	22	38.89	14	SNP	0.823	G
TYRO3	7301	genome.wustl.edu	37	15	41860467	41860467	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:41860467C>T	ENST00000263798.3	+	8	1238	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	TYRO3_ENST00000559066.1_Silent_p.L293L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	338	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATTCAGGCCTCATCTTGGAGT	0.577																																						dbGAP											0													65.0	62.0	63.0					15																	41860467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1014C>T	15.37:g.41860467C>T			O14953|Q86VR3	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S71L	ENST00000263798.3	37	c.212	CCDS10080.1	15																																																																																			TYRO3	-	superfamily_Fibronectin_type3	ENSG00000092445		0.577	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	50	0.00	0	C			41860467	41860467	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559815	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	1.000	T
UBN1	29855	genome.wustl.edu	37	16	4924718	4924718	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:4924718C>T	ENST00000396658.4	+	14	3010	c.2307C>T	c.(2305-2307)ctC>ctT	p.L769L	UBN1_ENST00000262376.6_Silent_p.L769L|UBN1_ENST00000545171.1_Silent_p.L769L|UBN1_ENST00000590769.1_Silent_p.L769L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	769					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGGCTCCCCTCAATAAGGGCC	0.572																																						dbGAP											0													58.0	64.0	62.0					16																	4924718		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2307C>T	16.37:g.4924718C>T			B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	NULL	p.S229L	ENST00000396658.4	37	c.686	CCDS10525.1	16																																																																																			UBN1	-	NULL	ENSG00000118900		0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	42	0.00	0	C	NM_016936		4924718	4924718	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586716	ensembl	human	novel	69_37n	missense	12	29.41	5	SNP	0.212	T
UBQLN1	29979	genome.wustl.edu	37	9	86278792	86278792	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:86278792G>C	ENST00000376395.4	-	10	2138	c.1615C>G	c.(1615-1617)Cag>Gag	p.Q539E	UBQLN1_ENST00000257468.7_Missense_Mutation_p.Q511E	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	539					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						ACTGATACCTGAGGATTTACT	0.403																																					Melanoma(186;1284 2073 12755 14558 18426)	dbGAP											0													122.0	114.0	117.0					9																	86278792		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1615C>G	9.37:g.86278792G>C	ENSP00000365576:p.Gln539Glu		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.Q539E	ENST00000376395.4	37	c.1615	CCDS6663.1	9	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839907	0.71488	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.40756	1.02;1.02	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	M	0.82823	2.61	0.52501	D	0.999954	B;D	0.56746	0.109;0.977	B;D	0.66351	0.064;0.943	T	0.61603	-0.7029	10	0.07175	T	0.84	.	19.9295	0.97114	0.0:0.0:1.0:0.0	.	511;539	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	E	539;511	ENSP00000365576:Q539E;ENSP00000257468:Q511E	ENSP00000257468:Q511E	Q	-	1	0	UBQLN1	85468612	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.944000	0.70219	2.695000	0.91970	0.655000	0.94253	CAG	UBQLN1	-	NULL	ENSG00000135018		0.403	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	92	0.00	0	G	NM_013438		86278792	86278792	-1	no_errors	ENST00000376395	ensembl	human	known	69_37n	missense	38	44.93	31	SNP	1.000	C
UBR2	23304	genome.wustl.edu	37	6	42657406	42657406	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:42657406C>T	ENST00000372899.1	+	46	5382	c.5124C>T	c.(5122-5124)ctC>ctT	p.L1708L	UBR2_ENST00000372901.1_Silent_p.L1708L|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1708					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACCAGGGACTCAGGTAAGAAC	0.527																																						dbGAP											0													203.0	207.0	206.0					6																	42657406		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5124C>T	6.37:g.42657406C>T			O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L1708	ENST00000372899.1	37	c.5124	CCDS4870.1	6																																																																																			UBR2	-	NULL	ENSG00000024048		0.527	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	70	0.00	0	C	NM_015255		42657406	42657406	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	silent	61	44.14	49	SNP	1.000	T
UBR3	130507	genome.wustl.edu	37	2	170806568	170806568	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:170806568G>C	ENST00000272793.5	+	23	3588	c.3538G>C	c.(3538-3540)Gaa>Caa	p.E1180Q	UBR3_ENST00000418381.1_Missense_Mutation_p.E1180Q			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1180					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTGGACAAAGAAGAAAGGTA	0.328																																						dbGAP											0													57.0	60.0	59.0					2																	170806568		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3538G>C	2.37:g.170806568G>C	ENSP00000272793:p.Glu1180Gln		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E1180Q	ENST00000272793.5	37	c.3538		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.013768|5.013768	0.93404|0.93404	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381|ENST00000392632	T;T|T	0.57907|0.57907	0.37;0.37|0.37	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68054|0.68054	0.2959|0.2959	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.993|.	D;D|.	0.75484|.	0.986;0.979|.	T|T	0.69101|0.69101	-0.5234|-0.5234	10|7	0.54805|0.87932	T|D	0.06|0	.|.	19.8769|19.8769	0.96880|0.96880	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1180;1180|.	Q6ZT12;E7EVK3|.	UBR3_HUMAN;.|.	Q|N	1180|237	ENSP00000272793:E1180Q;ENSP00000396068:E1180Q|ENSP00000376409:K237N	ENSP00000272793:E1180Q|ENSP00000376409:K237N	E|K	+|+	1|3	0|2	UBR3|UBR3	170514814|170514814	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.624000|9.624000	0.98398|0.98398	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	GAA|AAG	UBR3	-	NULL	ENSG00000144357		0.328	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	22	0.00	0	G	NM_172070		170806568	170806568	+1	no_errors	ENST00000272793	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	1.000	C
UCHL5	51377	genome.wustl.edu	37	1	192992148	192992148	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:192992148G>C	ENST00000367455.4	-	9	989	c.754C>G	c.(754-756)Caa>Gaa	p.Q252E	UCHL5_ENST00000367449.1_Missense_Mutation_p.Q251E|UCHL5_ENST00000367448.1_Missense_Mutation_p.Q251E|UCHL5_ENST00000367454.1_Missense_Mutation_p.Q251E|UCHL5_ENST00000367452.4_Missense_Mutation_p.Q127E|UCHL5_ENST00000367451.4_Missense_Mutation_p.Q278E|UCHL5_ENST00000530098.2_Missense_Mutation_p.Q128E	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	252					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						CTATTACCTTGATCTGTATCC	0.333																																						dbGAP											0													132.0	137.0	135.0					1																	192992148		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.754C>G	1.37:g.192992148G>C	ENSP00000356425:p.Gln252Glu		Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Nonsense_Mutation	SNP	pfam_Peptidase_C12	p.S107*	ENST00000367455.4	37	c.320	CCDS1378.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	6.194|6.194|6.194	0.404018|0.404018|0.404018	0.11754|0.11754|0.11754	.|.|.	.|.|.	ENSG00000116750|ENSG00000116750|ENSG00000116750	ENST00000420791|ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000367452;ENST00000530098;ENST00000391991;ENST00000421683|ENST00000449480;ENST00000443327;ENST00000416915	.|T;T;T;T;T;T;T;T;T|.	.|0.63417|.	.|-0.01;0.01;-0.04;-0.02;0.0;0.01;1.03;1.0;0.01|.	5.8|5.8|5.8	3.89|3.89|3.89	0.44902|0.44902|0.44902	.|Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.47967|0.47967|.	0.1474|0.1474|.	N|N|N	0.20530|0.20530|0.20530	0.585|0.585|0.585	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;B;B;B;B;B|.	.|0.21520|.	.|0.057;0.026;0.0;0.023;0.003;0.002|.	.|B;B;B;B;B;B|.	.|0.16289|.	.|0.015;0.01;0.006;0.012;0.01;0.002|.	T|T|.	0.31971|0.31971|.	-0.9924|-0.9924|.	5|10|.	.|0.05351|.	.|T|.	.|0.99|.	-24.0898|-24.0898|-24.0898	13.0085|13.0085|13.0085	0.58718|0.58718|0.58718	0.0:0.124:0.7467:0.1292|0.0:0.124:0.7467:0.1292|0.0:0.124:0.7467:0.1292	.|.|.	.|128;127;251;251;251;252|.	.|B7Z9U9;B4DW59;Q9Y5K5-2;Q9Y5K5-4;Q9Y5K5-3;Q9Y5K5|.	.|.;.;.;.;.;UCHL5_HUMAN|.	M|E|X	142|252;251;291;278;251;251;127;128;242;242|39;107;33	.|ENSP00000356425:Q252E;ENSP00000356424:Q251E;ENSP00000356420:Q291E;ENSP00000356421:Q278E;ENSP00000356418:Q251E;ENSP00000356419:Q251E;ENSP00000356422:Q127E;ENSP00000431171:Q128E;ENSP00000389563:Q242E|.	.|ENSP00000356418:Q251E|.	I|Q|S	-|-|-	3|1|2	3|0|0	UCHL5|UCHL5|UCHL5	191258771|191258771|191258771	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	9.315000|9.315000|9.315000	0.96313|0.96313|0.96313	0.763000|0.763000|0.763000	0.33175|0.33175|0.33175	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	ATC|CAA|TCA	UCHL5	-	NULL	ENSG00000116750		0.333	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UCHL5	HGNC	protein_coding	OTTHUMT00000086318.3	81	0.00	0	G	NM_015984		192992148	192992148	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443327	ensembl	human	known	69_37n	nonsense	176	21.33	48	SNP	1.000	C
UGP2	7360	genome.wustl.edu	37	2	64069209	64069209	+	5'UTR	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:64069209G>A	ENST00000337130.5	+	0	366				UGP2_ENST00000394417.2_Intron|UGP2_ENST00000445915.2_5'Flank|UGP2_ENST00000467648.2_Intron|UGP2_ENST00000487469.1_Intron	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2						carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AATATAGGAGGAGAAAGAATA	0.363																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.-111G>A	2.37:g.64069209G>A			Q07131|Q0P6K2|Q86Y81|Q9BU15	RNA	SNP	-	NULL	ENST00000337130.5	37	NULL	CCDS1875.1	2																																																																																			UGP2	-	-	ENSG00000169764		0.363	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	HGNC	protein_coding	OTTHUMT00000251688.1	28	0.00	0	G	NM_006759		64069209	64069209	+1	no_errors	ENST00000484056	ensembl	human	known	69_37n	rna	9	55.00	11	SNP	0.087	A
UGGT1	56886	genome.wustl.edu	37	2	128938641	128938641	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:128938641G>T	ENST00000259253.6	+	36	4125	c.4078G>T	c.(4078-4080)Gat>Tat	p.D1360Y	UGGT1_ENST00000375990.3_Missense_Mutation_p.D1336Y	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1360	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGTGGATGCTGATCAGGTAGG	0.378																																						dbGAP											0													172.0	160.0	164.0					2																	128938641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4078G>T	2.37:g.128938641G>T	ENSP00000259253:p.Asp1360Tyr		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.D1360Y	ENST00000259253.6	37	c.4078	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551878	0.86127	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.74421	-0.84;-0.84	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93825	0.7122	9	.	.	.	.	19.6946	0.96021	0.0:0.0:1.0:0.0	.	1360	Q9NYU2	UGGG1_HUMAN	Y	1336;1360	ENSP00000365158:D1336Y;ENSP00000259253:D1360Y	.	D	+	1	0	UGGT1	128655111	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.420000	0.97426	2.734000	0.93682	0.585000	0.79938	GAT	UGGT1	-	NULL	ENSG00000136731		0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	109	0.00	0	G	NM_020120		128938641	128938641	+1	no_errors	ENST00000259253	ensembl	human	known	69_37n	missense	75	43.61	58	SNP	1.000	T
UGT2B17	7367	genome.wustl.edu	37	4	69417578	69417578	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr4:69417578G>C	ENST00000317746.2	-	4	1099	c.1057C>G	c.(1057-1059)Cga>Gga	p.R353G		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	353					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TTATACAGTCGAGTATTGGAA	0.348																																					Melanoma(18;649 833 28984 37818 38500)	dbGAP											0													98.0	85.0	90.0					4																	69417578		2087	3917	6004	-	-	-	SO:0001583	missense	0			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1057C>G	4.37:g.69417578G>C	ENSP00000320401:p.Arg353Gly			Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R353G	ENST00000317746.2	37	c.1057	CCDS3523.1	4	.	.	.	.	.	.	.	.	.	.	G	9.203	1.029068	0.19512	.	.	ENSG00000197888	ENST00000317746	T	0.62498	0.02	2.68	0.348	0.16026	.	0.326476	0.26742	U	0.022732	T	0.70727	0.3257	M	0.87547	2.89	0.09310	N	1	.	.	.	.	.	.	T	0.63673	-0.6584	8	0.62326	D	0.03	.	7.6087	0.28118	0.0:0.0:0.3785:0.6214	.	.	.	.	G	353	ENSP00000320401:R353G	ENSP00000320401:R353G	R	-	1	2	UGT2B17	69100173	0.000000	0.05858	0.003000	0.11579	0.149000	0.21700	0.426000	0.21363	0.299000	0.22661	0.194000	0.17425	CGA	UGT2B17	-	pfam_UDP_glucos_trans	ENSG00000197888		0.348	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	HGNC	protein_coding	OTTHUMT00000251436.1	40	0.00	0	G	NM_001077		69417578	69417578	-1	no_errors	ENST00000317746	ensembl	human	known	69_37n	missense	17	77.03	57	SNP	0.058	C
UNC13C	440279	genome.wustl.edu	37	15	54586148	54586148	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:54586148G>A	ENST00000260323.11	+	10	3874	c.3874G>A	c.(3874-3876)Gat>Aat	p.D1292N	UNC13C_ENST00000537900.1_Missense_Mutation_p.D1290N|UNC13C_ENST00000545554.1_Missense_Mutation_p.D1292N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1292	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAAGATGATGATATTAAATC	0.363																																						dbGAP											0													168.0	169.0	169.0					15																	54586148		1921	4132	6053	-	-	-	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3874G>A	15.37:g.54586148G>A	ENSP00000260323:p.Asp1292Asn		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.D1292N	ENST00000260323.11	37	c.3874	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.401828	0.96030	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.69806	-0.43;-0.43;-0.43	5.91	5.91	0.95273	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.044336	0.85682	D	0.000000	T	0.75466	0.3853	L	0.31752	0.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.983;0.996	T	0.77135	-0.2699	10	0.87932	D	0	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	1292;1292	F5H090;Q8NB66	.;UN13C_HUMAN	N	1292;1292;1290	ENSP00000260323:D1292N;ENSP00000438156:D1292N;ENSP00000442569:D1290N	ENSP00000260323:D1292N	D	+	1	0	UNC13C	52373440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GAT	UNC13C	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000137766		0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	80	0.00	0	G	NM_173166		54586148	54586148	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	missense	118	36.22	67	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	216595627	216595627	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:216595627C>G	ENST00000307340.3	-	2	438	c.52G>C	c.(52-54)Gaa>Caa	p.E18Q	USH2A_ENST00000366943.2_Missense_Mutation_p.E18Q|USH2A_ENST00000366942.3_Missense_Mutation_p.E18Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	18					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCAACATTTCAATGACCTGA	0.388										HNSCC(13;0.011)																												dbGAP											0													56.0	59.0	58.0					1																	216595627		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.52G>C	1.37:g.216595627C>G	ENSP00000305941:p.Glu18Gln		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.E18Q	ENST00000307340.3	37	c.52	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	4.709	0.131901	0.08981	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.20069	2.56;2.55;2.1	5.48	1.42	0.22433	.	0.764912	0.10949	N	0.616288	T	0.19046	0.0457	L	0.57536	1.79	0.09310	N	1	B;B	0.20261	0.043;0.002	B;B	0.17433	0.018;0.004	T	0.34403	-0.9830	10	0.21014	T	0.42	.	7.1332	0.25512	0.0:0.5938:0.2633:0.1429	.	18;18	O75445-2;O75445	.;USH2A_HUMAN	Q	18	ENSP00000305941:E18Q;ENSP00000355910:E18Q;ENSP00000355909:E18Q	ENSP00000305941:E18Q	E	-	1	0	USH2A	214662250	0.048000	0.20356	0.000000	0.03702	0.025000	0.11179	0.271000	0.18626	0.016000	0.14998	-0.282000	0.10007	GAA	USH2A	-	NULL	ENSG00000042781		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	26	0.00	0	C	NM_007123		216595627	216595627	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	43	24.56	14	SNP	0.000	G
URB2	9816	genome.wustl.edu	37	1	229772758	229772758	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:229772758C>G	ENST00000258243.2	+	4	2534	c.2398C>G	c.(2398-2400)Ctc>Gtc	p.L800V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	800						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCATAGCCCTCTCTTTCCAGA	0.478																																						dbGAP											0													109.0	109.0	109.0					1																	229772758		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2398C>G	1.37:g.229772758C>G	ENSP00000258243:p.Leu800Val		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.L800V	ENST00000258243.2	37	c.2398	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	C	8.067	0.769396	0.15983	.	.	ENSG00000135763	ENST00000258243	T	0.32023	1.47	5.32	4.4	0.53042	.	0.333579	0.32068	N	0.006623	T	0.19725	0.0474	L	0.32530	0.975	0.38037	D	0.935332	B	0.28605	0.217	B	0.24701	0.055	T	0.11108	-1.0601	9	.	.	.	-15.531	7.254	0.26166	0.1371:0.7173:0.0:0.1457	.	800	Q14146	URB2_HUMAN	V	800	ENSP00000258243:L800V	.	L	+	1	0	URB2	227839381	0.031000	0.19500	0.995000	0.50966	0.112000	0.19704	0.183000	0.16919	1.386000	0.46466	0.585000	0.79938	CTC	URB2	-	NULL	ENSG00000135763		0.478	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	23	0.00	0	C	NM_014777		229772758	229772758	+1	no_errors	ENST00000258243	ensembl	human	known	69_37n	missense	97	21.77	27	SNP	0.758	G
USP19	10869	genome.wustl.edu	37	3	49147699	49147699	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:49147699G>C	ENST00000398888.2	-	25	3965	c.3647C>G	c.(3646-3648)tCt>tGt	p.S1216C	USP19_ENST00000417901.1_Missense_Mutation_p.S1319C|USP19_ENST00000434032.2_Missense_Mutation_p.S1317C|USP19_ENST00000398892.3_Missense_Mutation_p.S1256C|USP19_ENST00000398898.2_Missense_Mutation_p.S1256C|USP19_ENST00000453664.1_Missense_Mutation_p.S1307C|USP19_ENST00000398896.1_Missense_Mutation_p.S1024C	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1216					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCCACAGGAGAGTTCCGCCG	0.617																																						dbGAP											0													47.0	52.0	50.0					3																	49147699		1966	4141	6107	-	-	-	SO:0001583	missense	0			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3647C>G	3.37:g.49147699G>C	ENSP00000381863:p.Ser1216Cys		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.S1216C	ENST00000398888.2	37	c.3647	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880135	0.72294	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.22539	1.97;1.95;2.04;2.04;1.95;2.07;2.04	5.67	5.67	0.87782	.	4.010950	0.00481	N	0.000128	T	0.53110	0.1776	L	0.56280	1.765	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.995;0.993;0.947	T	0.17930	-1.0353	10	0.87932	D	0	-15.691	19.7629	0.96329	0.0:0.0:1.0:0.0	.	1317;1307;1216;1256;1024	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	C	1024;1256;1319;1307;1256;1216;1317	ENSP00000381870:S1024C;ENSP00000381872:S1256C;ENSP00000395260:S1319C;ENSP00000400090:S1307C;ENSP00000381867:S1256C;ENSP00000381863:S1216C;ENSP00000401197:S1317C	ENSP00000381863:S1216C	S	-	2	0	USP19	49122703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	2.666000	0.90696	0.561000	0.74099	TCT	USP19	-	NULL	ENSG00000172046		0.617	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	18	0.00	0	G	NM_006677		49147699	49147699	-1	no_errors	ENST00000398888	ensembl	human	known	69_37n	missense	15	42.31	11	SNP	1.000	C
USP19	10869	genome.wustl.edu	37	3	49148493	49148493	+	Silent	SNP	A	A	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:49148493A>G	ENST00000398888.2	-	22	3444	c.3126T>C	c.(3124-3126)tgT>tgC	p.C1042C	USP19_ENST00000417901.1_Silent_p.C1145C|USP19_ENST00000434032.2_Silent_p.C1143C|USP19_ENST00000398892.3_Silent_p.C1082C|USP19_ENST00000398898.2_Silent_p.C1082C|USP19_ENST00000453664.1_Silent_p.C1133C|USP19_ENST00000398896.1_Silent_p.C850C	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1042	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATCCTCAGCACATTCCAGCT	0.637																																						dbGAP											0													69.0	78.0	75.0					3																	49148493		2017	4190	6207	-	-	-	SO:0001819	synonymous_variant	0			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3126T>C	3.37:g.49148493A>G			A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.C1042	ENST00000398888.2	37	c.3126	CCDS43090.1	3																																																																																			USP19	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000172046		0.637	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	21	0.00	0	A	NM_006677		49148493	49148493	-1	no_errors	ENST00000398888	ensembl	human	known	69_37n	silent	14	44.00	11	SNP	1.000	G
USP24	23358	genome.wustl.edu	37	1	55537548	55537548	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:55537548C>T	ENST00000294383.6	-	67	7738	c.7739G>A	c.(7738-7740)gGa>gAa	p.G2580E	USP24_ENST00000407756.1_Missense_Mutation_p.G2420E|USP24_ENST00000484447.1_5'UTR	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2580					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATTACTGCTTCCTGATTGCTC	0.493											OREG0013507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													112.0	109.0	110.0					1																	55537548		2066	4207	6273	-	-	-	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7739G>A	1.37:g.55537548C>T	ENSP00000294383:p.Gly2580Glu	1008	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.G2580E	ENST00000294383.6	37	c.7739	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748133	0.69533	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.01998	4.51;4.53	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000006	T	0.07324	0.0185	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53229	-0.8468	10	0.32370	T	0.25	.	17.5474	0.87866	0.0:1.0:0.0:0.0	.	2420	B7WPF4	.	E	2580;2420	ENSP00000294383:G2580E;ENSP00000385700:G2420E	ENSP00000294383:G2580E	G	-	2	0	USP24	55310136	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	7.136000	0.77285	2.374000	0.81015	0.655000	0.94253	GGA	USP24	-	NULL	ENSG00000162402		0.493	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	224	0.00	0	C			55537548	55537548	-1	no_errors	ENST00000294383	ensembl	human	known	69_37n	missense	61	38.00	38	SNP	1.000	T
USP24	23358	genome.wustl.edu	37	1	55589232	55589232	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:55589232C>T	ENST00000294383.6	-	36	4163	c.4164G>A	c.(4162-4164)ctG>ctA	p.L1388L	USP24_ENST00000407756.1_Silent_p.L1228L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1388					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTCCCGCATGCAGGGCTACTG	0.468																																						dbGAP											0													61.0	59.0	60.0					1																	55589232		1912	4127	6039	-	-	-	SO:0001819	synonymous_variant	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4164G>A	1.37:g.55589232C>T			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.L1388	ENST00000294383.6	37	c.4164	CCDS44154.2	1																																																																																			USP24	-	superfamily_ARM-type_fold	ENSG00000162402		0.468	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	148	0.00	0	C			55589232	55589232	-1	no_errors	ENST00000294383	ensembl	human	known	69_37n	silent	41	25.45	14	SNP	1.000	T
USP34	9736	genome.wustl.edu	37	2	61475692	61475692	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:61475692C>T	ENST00000398571.2	-	49	6424	c.6348G>A	c.(6346-6348)acG>acA	p.T2116T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2116	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTGTATAGGGCGTCATGTCCA	0.343																																						dbGAP											0													109.0	105.0	107.0					2																	61475692		1868	4104	5972	-	-	-	SO:0001819	synonymous_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6348G>A	2.37:g.61475692C>T			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.T2116	ENST00000398571.2	37	c.6348	CCDS42686.1	2																																																																																			USP34	-	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	ENSG00000115464		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	68	0.00	0	C			61475692	61475692	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	silent	73	31.13	33	SNP	0.925	T
USP4	7375	genome.wustl.edu	37	3	49365238	49365238	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:49365238G>C	ENST00000265560.4	-	3	287	c.241C>G	c.(241-243)Cag>Gag	p.Q81E	USP4_ENST00000351842.4_Missense_Mutation_p.Q81E|USP4_ENST00000415188.1_Missense_Mutation_p.Q81E|USP4_ENST00000416417.1_Missense_Mutation_p.Q81E	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	81	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.|Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTCAAGGTCTGACTCTCAGGA	0.393																																						dbGAP											0													96.0	90.0	92.0					3																	49365238		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.241C>G	3.37:g.49365238G>C	ENSP00000265560:p.Gln81Glu		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.Q81E	ENST00000265560.4	37	c.241	CCDS2793.1	3	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057986	0.55325	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.28895	2.11;2.22;1.59	6.07	6.07	0.98685	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.000000	0.85682	D	0.000000	T	0.34250	0.0891	L	0.41124	1.26	0.80722	D	1	B;P	0.45902	0.175;0.868	B;P	0.46629	0.025;0.522	T	0.01004	-1.1484	10	0.18710	T	0.47	-20.5122	19.2374	0.93866	0.0:0.0:1.0:0.0	.	81;81	Q13107-2;Q13107	.;UBP4_HUMAN	E	81	ENSP00000341028:Q81E;ENSP00000265560:Q81E;ENSP00000400623:Q81E	ENSP00000265560:Q81E	Q	-	1	0	USP4	49340242	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.493000	0.97960	2.885000	0.99019	0.655000	0.94253	CAG	USP4	-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP	ENSG00000114316		0.393	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	24	0.00	0	G	NM_199443		49365238	49365238	-1	no_errors	ENST00000265560	ensembl	human	known	69_37n	missense	37	42.19	27	SNP	1.000	C
VANGL2	57216	genome.wustl.edu	37	1	160385686	160385686	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:160385686C>T	ENST00000368061.2	+	2	533	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	20					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCGCAGCTCCCGCAAGCAC	0.662																																						dbGAP											0													29.0	31.0	31.0					1																	160385686		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.59C>T	1.37:g.160385686C>T	ENSP00000357040:p.Ser20Phe		D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.S20F	ENST00000368061.2	37	c.59	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245863	0.39697	.	.	ENSG00000162738	ENST00000368061	D	0.81579	-1.51	4.22	4.22	0.49857	.	0.071659	0.56097	D	0.000026	D	0.84320	0.5446	M	0.61703	1.905	0.53005	D	0.999961	D	0.61697	0.99	D	0.69142	0.962	D	0.85629	0.1269	10	0.56958	D	0.05	-30.8232	14.143	0.65331	0.0:1.0:0.0:0.0	.	20	Q9ULK5	VANG2_HUMAN	F	20	ENSP00000357040:S20F	ENSP00000357040:S20F	S	+	2	0	VANGL2	158652310	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	5.503000	0.66962	2.182000	0.69389	0.461000	0.40582	TCC	VANGL2	-	pirsf_Strabismus	ENSG00000162738		0.662	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	43	0.00	0	C	NM_020335		160385686	160385686	+1	no_errors	ENST00000368061	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	1.000	T
VCAN	1462	genome.wustl.edu	37	5	82834656	82834656	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:82834656C>T	ENST00000265077.3	+	8	6399	c.5834C>T	c.(5833-5835)tCt>tTt	p.S1945F	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.S958F|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1945	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCAACAGTGTCTCATCCCATA	0.433																																						dbGAP											0													82.0	81.0	82.0					5																	82834656		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5834C>T	5.37:g.82834656C>T	ENSP00000265077:p.Ser1945Phe		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.S1945F	ENST00000265077.3	37	c.5834	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395779	0.42512	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.86366	-2.08;-2.11;2.98	5.81	5.81	0.92471	.	0.541535	0.18299	N	0.145479	D	0.90556	0.7040	L	0.53249	1.67	0.80722	D	1	P;P	0.45212	0.853;0.612	P;B	0.54026	0.74;0.259	D	0.90609	0.4550	10	0.72032	D	0.01	.	17.8631	0.88787	0.0:1.0:0.0:0.0	.	958;1945	P13611-2;P13611	.;CSPG2_HUMAN	F	1945;958;958	ENSP00000265077:S1945F;ENSP00000340062:S958F;ENSP00000426251:S958F	ENSP00000265077:S1945F	S	+	2	0	VCAN	82870412	0.195000	0.23338	0.158000	0.22627	0.244000	0.25665	2.313000	0.43735	2.759000	0.94783	0.591000	0.81541	TCT	VCAN	-	NULL	ENSG00000038427		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	47	0.00	0	C	NM_004385		82834656	82834656	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	missense	12	60.00	18	SNP	0.449	T
VCAN	1462	genome.wustl.edu	37	5	82836059	82836059	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr5:82836059G>A	ENST00000265077.3	+	8	7802	c.7237G>A	c.(7237-7239)Gaa>Aaa	p.E2413K	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1426K|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2413	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AATGGCCAAAGAATTTGTTAC	0.373																																						dbGAP											0													78.0	77.0	78.0					5																	82836059		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7237G>A	5.37:g.82836059G>A	ENSP00000265077:p.Glu2413Lys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E2413K	ENST00000265077.3	37	c.7237	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	1.619	-0.522014	0.04171	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.33216	1.42;1.42	6.08	3.11	0.35812	.	1.021060	0.07786	N	0.954137	T	0.18130	0.0435	L	0.29908	0.895	0.09310	N	1	P;P	0.37276	0.589;0.454	B;B	0.35813	0.211;0.105	T	0.11542	-1.0583	10	0.07030	T	0.85	.	4.9931	0.14224	0.0764:0.2683:0.5168:0.1384	.	1426;2413	P13611-2;P13611	.;CSPG2_HUMAN	K	2413;1426	ENSP00000265077:E2413K;ENSP00000340062:E1426K	ENSP00000265077:E2413K	E	+	1	0	VCAN	82871815	0.001000	0.12720	0.009000	0.14445	0.074000	0.17049	0.942000	0.29017	1.560000	0.49568	0.655000	0.94253	GAA	VCAN	-	NULL	ENSG00000038427		0.373	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	44	0.00	0	G	NM_004385		82836059	82836059	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	missense	15	54.55	18	SNP	0.000	A
VNN2	8875	genome.wustl.edu	37	6	133078658	133078658	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:133078658C>T	ENST00000326499.6	-	2	365	c.241G>A	c.(241-243)Gat>Aat	p.D81N	VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Missense_Mutation_p.D28N|VNN2_ENST00000525289.1_Missense_Mutation_p.D81N	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	81	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TAAAGTGCATCTTCTGGAGTC	0.433																																						dbGAP											0													100.0	101.0	101.0					6																	133078658		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.241G>A	6.37:g.133078658C>T	ENSP00000322276:p.Asp81Asn		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.D81N	ENST00000326499.6	37	c.241	CCDS5161.1	6	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176938	0.78564	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289;ENST00000524919;ENST00000530536;ENST00000532012	D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.6	3.72	0.42706	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.078265	0.52532	D	0.000074	D	0.88581	0.6475	L	0.59436	1.845	0.31907	N	0.615213	P;D	0.67145	0.617;0.996	B;D	0.70487	0.33;0.969	D	0.84294	0.0501	10	0.27785	T	0.31	-25.8225	11.3181	0.49405	0.1265:0.8055:0.0:0.0679	.	81;81	O95498-2;O95498	.;VNN2_HUMAN	N	81;28;81;81;28;81	ENSP00000322276:D81N;ENSP00000436822:D28N;ENSP00000436935:D81N;ENSP00000431451:D81N;ENSP00000434210:D28N;ENSP00000431680:D81N	ENSP00000322276:D81N	D	-	1	0	VNN2	133120351	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.186000	0.58337	1.508000	0.48769	-0.192000	0.12808	GAT	VNN2	-	pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000112303		0.433	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	HGNC	protein_coding	OTTHUMT00000042264.2	55	0.00	0	C			133078658	133078658	-1	no_errors	ENST00000326499	ensembl	human	known	69_37n	missense	55	38.89	35	SNP	1.000	T
VPS13A	23230	genome.wustl.edu	37	9	79934578	79934578	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:79934578C>G	ENST00000360280.3	+	42	5664	c.5404C>G	c.(5404-5406)Ctt>Gtt	p.L1802V	VPS13A_ENST00000357409.5_Missense_Mutation_p.L1802V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L1802V|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.L1763V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1802					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCATGGAATCTTGGTATCAA	0.308																																						dbGAP											0													90.0	89.0	89.0					9																	79934578		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5404C>G	9.37:g.79934578C>G	ENSP00000353422:p.Leu1802Val		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.L1802V	ENST00000360280.3	37	c.5404	CCDS6655.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.950124|3.950124	0.73787|0.73787	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.51574	.|0.7;0.7;0.7;0.7	5.47|5.47	4.56|4.56	0.56223|0.56223	.|.	.|0.143577	.|0.47852	.|D	.|0.000207	T|T	0.52500|0.52500	0.1738|0.1738	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.45176	.|0.639;0.852;0.507;0.831;0.831	.|B;B;B;B;B	.|0.43889	.|0.134;0.435;0.063;0.275;0.275	T|T	0.54938|0.54938	-0.8218|-0.8218	5|10	.|0.31617	.|T	.|0.26	.|.	14.5149|14.5149	0.67811|0.67811	0.0:0.928:0.0:0.072|0.0:0.928:0.0:0.072	.|.	.|54;1763;1802;1802;1802	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	M|V	54|1802;1763;1802;1802	.|ENSP00000365821:L1802V;ENSP00000365823:L1763V;ENSP00000353422:L1802V;ENSP00000349985:L1802V	.|ENSP00000349985:L1802V	I|L	+|+	3|1	3|0	VPS13A|VPS13A	79124398|79124398	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.268000|4.268000	0.58883|0.58883	2.559000|2.559000	0.86315|0.86315	0.650000|0.650000	0.86243|0.86243	ATC|CTT	VPS13A	-	NULL	ENSG00000197969		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	117	0.00	0	C	NM_015186		79934578	79934578	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	56	44.00	44	SNP	1.000	G
VPS26A	9559	genome.wustl.edu	37	10	70916861	70916861	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:70916861G>C	ENST00000373382.1	+	5	981	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	VPS26A_ENST00000546041.1_Missense_Mutation_p.E93Q|VPS26A_ENST00000263559.6_Missense_Mutation_p.E110Q|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_Missense_Mutation_p.E85Q|VPS26A_ENST00000395098.1_Missense_Mutation_p.E110Q			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	110					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TTATGATTTTGAATTTATGCA	0.353																																					Colon(90;545 1358 4729 6702 16773)	dbGAP											0													95.0	93.0	94.0					10																	70916861		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.328G>C	10.37:g.70916861G>C	ENSP00000362480:p.Glu110Gln		A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	pfam_VPS26	p.E110Q	ENST00000373382.1	37	c.328	CCDS7286.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.070461	0.93950	.	.	ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000395098;ENST00000546041	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	M	0.82716	2.605	0.80722	D	1	P;B;B	0.38800	0.648;0.41;0.387	B;B;P	0.47162	0.17;0.103;0.54	T	0.78770	-0.2074	9	0.51188	T	0.08	-22.9251	20.3431	0.98773	0.0:0.0:1.0:0.0	.	93;110;110	F5H4L7;A8MZ56;O75436	.;.;VP26A_HUMAN	Q	110;110;110;93	.	ENSP00000263559:E110Q	E	+	1	0	VPS26A	70586867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.880000	0.98712	0.650000	0.86243	GAA	VPS26A	-	pfam_VPS26	ENSG00000122958		0.353	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26A	HGNC	protein_coding	OTTHUMT00000048403.1	63	0.00	0	G	NM_004896		70916861	70916861	+1	no_errors	ENST00000263559	ensembl	human	known	69_37n	missense	62	34.74	33	SNP	1.000	C
VPS39	23339	genome.wustl.edu	37	15	42476775	42476775	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:42476775C>G	ENST00000348544.4	-	9	690	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	VPS39_ENST00000318006.5_Missense_Mutation_p.E220Q			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	231	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ATCCCTTCCTCATTGAGTACC	0.527																																						dbGAP											0													250.0	215.0	227.0					15																	42476775		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.691G>C	15.37:g.42476775C>G	ENSP00000335193:p.Glu231Gln		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.E231Q	ENST00000348544.4	37	c.691	CCDS10083.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.108856	0.94292	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.04862	3.54;3.54	5.67	5.67	0.87782	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	N	0.20401	0.57	0.80722	D	1	P;P	0.48089	0.905;0.884	P;P	0.49047	0.599;0.464	T	0.47947	-0.9077	10	0.13470	T	0.59	-21.7408	19.7728	0.96373	0.0:1.0:0.0:0.0	.	231;220	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	Q	220;231	ENSP00000326534:E220Q;ENSP00000335193:E231Q	ENSP00000326534:E220Q	E	-	1	0	VPS39	40264067	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.687000	0.91594	0.655000	0.94253	GAG	VPS39	-	pfam_Citron,smart_Citron	ENSG00000166887		0.527	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	101	0.00	0	C	NM_015289		42476775	42476775	-1	no_errors	ENST00000348544	ensembl	human	known	69_37n	missense	57	27.85	22	SNP	1.000	G
VWA7	80737	genome.wustl.edu	37	6	31735495	31735495	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:31735495C>G	ENST00000375688.4	-	11	1740	c.1540G>C	c.(1540-1542)Ggg>Cgg	p.G514R	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Missense_Mutation_p.G514R|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000447450.1_Missense_Mutation_p.G514R			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	514						extracellular region (GO:0005576)											AGTGGCTGCCCAGGCACCACA	0.547																																						dbGAP											0													77.0	78.0	77.0					6																	31735495		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1540G>C	6.37:g.31735495C>G	ENSP00000364840:p.Gly514Arg		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	NULL	p.G514R	ENST00000375688.4	37	c.1540	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	C	5.936	0.356733	0.11239	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.33216	2.62;2.4;1.42	4.95	2.1	0.27182	.	0.325798	0.30723	N	0.009013	T	0.10252	0.0251	M	0.63843	1.955	0.09310	N	1	B	0.33171	0.4	B	0.34385	0.181	T	0.16424	-1.0403	10	0.15066	T	0.55	-13.4748	4.6233	0.12465	0.0:0.6234:0.1814:0.1952	.	514	Q9Y334	G7C_HUMAN	R	514	ENSP00000364840:G514R;ENSP00000364838:G514R;ENSP00000390554:G514R	ENSP00000364838:G514R	G	-	1	0	C6orf27	31843474	0.173000	0.23056	0.059000	0.19551	0.027000	0.11550	0.757000	0.26433	1.314000	0.45095	-0.224000	0.12420	GGG	VWA7	-	NULL	ENSG00000204396		0.547	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	28	0.00	0	C	NM_025258		31735495	31735495	-1	no_errors	ENST00000375686	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.011	G
WASL	8976	genome.wustl.edu	37	7	123335879	123335879	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:123335879C>G	ENST00000223023.4	-	7	1002	c.670G>C	c.(670-672)Gat>Cat	p.D224H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	224					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATACTTACATCAAAGCCTGTA	0.299																																						dbGAP											0													84.0	82.0	83.0					7																	123335879		2203	4297	6500	-	-	-	SO:0001583	missense	0			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.670G>C	7.37:g.123335879C>G	ENSP00000223023:p.Asp224His		A1JUI9|Q7Z746	Missense_Mutation	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.D224H	ENST00000223023.4	37	c.670	CCDS34743.1	7	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789362	0.90367	.	.	ENSG00000106299	ENST00000223023	D	0.87179	-2.22	5.09	5.09	0.68999	Wiscott-Aldrich syndrome, C-terminal (1);PAK-box/P21-Rho-binding (2);	0.000000	0.85682	D	0.000000	D	0.93403	0.7896	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94021	0.7292	10	0.87932	D	0	-19.3804	18.8389	0.92174	0.0:1.0:0.0:0.0	.	224	O00401	WASL_HUMAN	H	224	ENSP00000223023:D224H	ENSP00000223023:D224H	D	-	1	0	WASL	123123115	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.687000	0.84139	2.524000	0.85096	0.467000	0.42956	GAT	WASL	-	pfam_PAK_box_Rho-bd,superfamily_WASP_C,smart_PAK_box_Rho-bd	ENSG00000106299		0.299	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	62	0.00	0	C	NM_003941		123335879	123335879	-1	no_errors	ENST00000223023	ensembl	human	known	69_37n	missense	80	27.27	30	SNP	1.000	G
WBP11P1	441818	genome.wustl.edu	37	18	30091887	30091887	+	RNA	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr18:30091887G>A	ENST00000567636.1	+	0	262					NR_003558.1				WW domain binding protein 11 pseudogene 1																		GACCAAGCCCGAAAGGAAGCC	0.413																																						dbGAP											0																																										-	-	-			0			BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30091887G>A				RNA	SNP	-	NULL	ENST00000567636.1	37	NULL		18																																																																																			WBP11P1	-	-	ENSG00000260389		0.413	WBP11P1-002	KNOWN	basic	processed_transcript	WBP11P1	HGNC	pseudogene	OTTHUMT00000435119.1	109	0.91	1	G			30091887	30091887	+1	no_errors	ENST00000567636	ensembl	human	known	69_37n	rna	34	66.99	69	SNP	1.000	A
WDR44	54521	genome.wustl.edu	37	X	117570786	117570786	+	Splice_Site	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:117570786G>C	ENST00000254029.3	+	14	2368	c.1973G>C	c.(1972-1974)aGa>aCa	p.R658T	WDR44_ENST00000371825.3_Splice_Site_p.R658T|WDR44_ENST00000371822.5_Splice_Site_p.R633T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	658						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTTCATCCAAGAGTAAGTAAC	0.343																																						dbGAP											0													84.0	74.0	77.0					X																	117570786		2202	4296	6498	-	-	-	SO:0001630	splice_region_variant	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1974+1G>C	X.37:g.117570786G>C			B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R658T	ENST00000254029.3	37	c.1973	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.401037|4.401037	0.83120|0.83120	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825;ENST00000318919	.|T;T;T	.|0.80738	.|-1.41;0.28;0.28	5.43|5.43	5.43|5.43	0.79202|0.79202	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75369|0.75369	0.3840|0.3840	N|N	0.01048|0.01048	-1.04|-1.04	0.58432|0.58432	D|D	0.999999|0.999999	.|B;D;D;D	.|0.89917	.|0.33;1.0;1.0;0.999	.|B;D;D;D	.|0.79784	.|0.316;0.993;0.987;0.99	D|D	0.86385|0.86385	0.1732|0.1732	5|10	.|0.87932	.|D	.|0	-20.4655|-20.4655	18.5315|18.5315	0.90993|0.90993	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|633;658;658;658	.|F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.|.;.;.;WDR44_HUMAN	N|T	557|633;658;658;44	.|ENSP00000360887:R633T;ENSP00000254029:R658T;ENSP00000360890:R658T	.|ENSP00000254029:R658T	K|R	+|+	3|2	2|0	WDR44|WDR44	117454814|117454814	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.884000|0.884000	0.51177|0.51177	9.751000|9.751000	0.98889|0.98889	2.405000|2.405000	0.81733|0.81733	0.591000|0.591000	0.81541|0.81541	AAG|AGA	WDR44	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000131725		0.343	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	85	0.00	0	G	NM_019045	Missense_Mutation	117570786	117570786	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	missense	69	41.53	49	SNP	1.000	C
CFAP44	55779	genome.wustl.edu	37	3	113092289	113092289	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:113092289C>T	ENST00000295868.2	-	18	2575	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	WDR52_ENST00000393845.2_Missense_Mutation_p.E805K	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GGATTGTCCTCTGTATCCGCA	0.373																																						dbGAP											0													150.0	140.0	143.0					3																	113092289		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000295868.2:c.2413G>A	3.37:g.113092289C>T	ENSP00000295868:p.Glu805Lys			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E805K	ENST00000295868.2	37	c.2413	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963321	0.53507	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.16597	2.33;2.33	5.39	5.39	0.77823	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.13329	0.0323	N	0.19112	0.55	0.80722	D	1	P	0.34562	0.457	B	0.31390	0.129	T	0.06716	-1.0811	9	0.56958	D	0.05	.	17.2894	0.87150	0.0:1.0:0.0:0.0	.	805	Q96MT7	WDR52_HUMAN	K	805	ENSP00000377428:E805K;ENSP00000295868:E805K	ENSP00000295868:E805K	E	-	1	0	WDR52	114574979	1.000000	0.71417	0.997000	0.53966	0.437000	0.31866	4.308000	0.59129	2.700000	0.92200	0.655000	0.94253	GAG	WDR52	-	superfamily_WD40_repeat_dom	ENSG00000206530		0.373	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	98	0.00	0	C			113092289	113092289	-1	no_errors	ENST00000393845	ensembl	human	known	69_37n	missense	56	34.88	30	SNP	1.000	T
WDR75	84128	genome.wustl.edu	37	2	190323496	190323496	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:190323496C>G	ENST00000314761.4	+	7	647	c.587C>G	c.(586-588)tCa>tGa	p.S196*		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	196						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTATCATCATCAAGAAATAAG	0.348																																						dbGAP											0													78.0	72.0	74.0					2																	190323496		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.587C>G	2.37:g.190323496C>G	ENSP00000314193:p.Ser196*		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S196*	ENST00000314761.4	37	c.587	CCDS2298.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.637446	0.96693	.	.	ENSG00000115368	ENST00000314761	.	.	.	5.65	4.72	0.59763	.	0.395680	0.27509	N	0.019043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-12.5652	15.3727	0.74581	0.1401:0.8599:0.0:0.0	.	.	.	.	X	196	.	ENSP00000314193:S196X	S	+	2	0	WDR75	190031741	0.993000	0.37304	1.000000	0.80357	0.989000	0.77384	3.663000	0.54518	2.810000	0.96702	0.650000	0.86243	TCA	WDR75	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000115368		0.348	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	40	0.00	0	C	NM_032168		190323496	190323496	+1	no_errors	ENST00000314761	ensembl	human	known	69_37n	nonsense	20	37.50	12	SNP	0.996	G
WDR87	83889	genome.wustl.edu	37	19	38383735	38383735	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:38383735C>T	ENST00000303868.5	-	4	2715	c.2491G>A	c.(2491-2493)Gct>Act	p.A831T	WDR87_ENST00000447313.2_Missense_Mutation_p.A870T	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	831										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TTACTTATAGCTCTTACCCTG	0.463																																						dbGAP											0													124.0	98.0	106.0					19																	38383735		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.2491G>A	19.37:g.38383735C>T	ENSP00000368025:p.Ala831Thr		Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A870T	ENST00000303868.5	37	c.2608	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	C	1.536	-0.543099	0.04053	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.10573	2.86;2.86	5.31	-7.8	0.01214	.	1.566950	0.03868	N	0.275176	T	0.08802	0.0218	L	0.57536	1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.35375	-0.9791	10	0.40728	T	0.16	-0.6382	1.0947	0.01671	0.2699:0.3357:0.1952:0.1992	.	831;870	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	T	870;831	ENSP00000405012:A870T;ENSP00000368025:A831T	ENSP00000368025:A831T	A	-	1	0	WDR87	43075575	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.537000	0.00438	-1.295000	0.02357	-2.193000	0.00311	GCT	WDR87	-	NULL	ENSG00000171804		0.463	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	20	0.00	0	C	XM_940478		38383735	38383735	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	missense	79	31.90	37	SNP	0.000	T
WDR87	83889	genome.wustl.edu	37	19	38385190	38385190	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:38385190C>T	ENST00000303868.5	-	4	1260	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	WDR87_ENST00000447313.2_Missense_Mutation_p.E385K	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	346										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						AAGCCATCCTCAGTGGTACAC	0.562																																						dbGAP											0													107.0	103.0	104.0					19																	38385190		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.1036G>A	19.37:g.38385190C>T	ENSP00000368025:p.Glu346Lys		Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E385K	ENST00000303868.5	37	c.1153	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564122	0.45694	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.36520	1.25;2.87	6.06	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.410133	0.23151	N	0.051349	T	0.41073	0.1143	L	0.37750	1.13	0.28983	N	0.888519	D;D	0.58268	0.982;0.982	P;P	0.53760	0.734;0.734	T	0.24225	-1.0166	10	0.48119	T	0.1	-16.2287	13.5464	0.61707	0.0:0.8453:0.1547:0.0	.	346;385	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	K	385;346	ENSP00000405012:E385K;ENSP00000368025:E346K	ENSP00000368025:E346K	E	-	1	0	WDR87	43077030	0.719000	0.27986	0.942000	0.38095	0.606000	0.37113	1.498000	0.35660	2.881000	0.98747	0.643000	0.83706	GAG	WDR87	-	superfamily_WD40_repeat_dom	ENSG00000171804		0.562	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	37	0.00	0	C	XM_940478		38385190	38385190	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	0.934	T
WDR93	56964	genome.wustl.edu	37	15	90245206	90245206	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:90245206G>C	ENST00000268130.7	+	2	330	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	WDR93_ENST00000558000.1_Missense_Mutation_p.E77Q|WDR93_ENST00000560294.1_Missense_Mutation_p.E77Q|RP11-300G22.2_ENST00000557964.1_RNA	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	77					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AATTATTGAAGAGAGAAACGC	0.507																																						dbGAP											0													71.0	70.0	70.0					15																	90245206		2200	4299	6499	-	-	-	SO:0001583	missense	0				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.229G>C	15.37:g.90245206G>C	ENSP00000268130:p.Glu77Gln		Q8N7Y8|Q9NP89	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.E77Q	ENST00000268130.7	37	c.229	CCDS32326.1	15	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934886	0.34189	.	.	ENSG00000140527	ENST00000268130	T	0.26067	1.76	5.29	1.11	0.20524	.	0.802511	0.11386	N	0.569310	T	0.34106	0.0886	M	0.64997	1.995	0.80722	D	1	D;P;D	0.63880	0.993;0.95;0.993	P;P;P	0.53649	0.731;0.698;0.731	T	0.13019	-1.0525	10	0.42905	T	0.14	-8.8982	6.2037	0.20590	0.2363:0.1345:0.6293:0.0	.	77;77;77	Q6P2C0-2;B4E3E2;Q6P2C0	.;.;WDR93_HUMAN	Q	77	ENSP00000268130:E77Q	ENSP00000268130:E77Q	E	+	1	0	WDR93	88046210	0.073000	0.21202	0.021000	0.16686	0.054000	0.15201	-0.037000	0.12164	-0.037000	0.13646	0.650000	0.86243	GAG	WDR93	-	NULL	ENSG00000140527		0.507	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	HGNC	protein_coding	OTTHUMT00000416369.1	23	0.00	0	G	NM_020212		90245206	90245206	+1	no_errors	ENST00000268130	ensembl	human	known	69_37n	missense	22	42.11	16	SNP	0.956	C
WLS	79971	genome.wustl.edu	37	1	68615925	68615925	+	Silent	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:68615925G>A	ENST00000262348.4	-	6	1171	c.918C>T	c.(916-918)atC>atT	p.I306I	WLS_ENST00000354777.2_Silent_p.I304I|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Silent_p.I215I|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Silent_p.I306I	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	306					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TCGCATAGAAGATGCCCTGTC	0.517																																						dbGAP											0													135.0	123.0	127.0					1																	68615925		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.918C>T	1.37:g.68615925G>A			B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	NULL	p.I306	ENST00000262348.4	37	c.918	CCDS642.1	1																																																																																			WLS	-	NULL	ENSG00000116729		0.517	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	23	0.00	0	G	NM_024911		68615925	68615925	-1	no_errors	ENST00000540432	ensembl	human	known	69_37n	silent	39	27.78	15	SNP	1.000	A
WNK3	65267	genome.wustl.edu	37	X	54265471	54265471	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chrX:54265471C>A	ENST00000375159.2	-	17	3712	c.3713G>T	c.(3712-3714)aGc>aTc	p.S1238I	WNK3_ENST00000354646.2_Missense_Mutation_p.S1238I|WNK3_ENST00000375169.3_Missense_Mutation_p.S1238I			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1238					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGCTCCACCGCTTGACACAGC	0.448																																						dbGAP											0													61.0	57.0	58.0					X																	54265471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3713G>T	X.37:g.54265471C>A	ENSP00000364301:p.Ser1238Ile		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1238I	ENST00000375159.2	37	c.3713	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	3.382	-0.126135	0.06795	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72615	-0.67;-0.58;-0.58	5.02	4.14	0.48551	.	0.101948	0.42420	D	0.000710	T	0.61527	0.2354	L	0.29908	0.895	0.27543	N	0.950727	B;B	0.33212	0.402;0.22	B;B	0.36766	0.232;0.036	T	0.57596	-0.7784	10	0.49607	T	0.09	-1.7444	13.4429	0.61123	0.0:0.8448:0.1552:0.0	.	1238;1238	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	I	1238	ENSP00000364312:S1238I;ENSP00000346667:S1238I;ENSP00000364301:S1238I	ENSP00000346667:S1238I	S	-	2	0	WNK3	54282196	0.974000	0.33945	0.771000	0.31576	0.730000	0.41778	2.971000	0.49248	0.891000	0.36235	-0.347000	0.07816	AGC	WNK3	-	NULL	ENSG00000196632		0.448	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	44	0.00	0	C	NM_020922		54265471	54265471	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	missense	34	45.16	28	SNP	0.973	A
XAB2	56949	genome.wustl.edu	37	19	7692239	7692239	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:7692239G>A	ENST00000358368.4	-	4	449	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	XAB2_ENST00000534844.1_Missense_Mutation_p.R135W|PET100_ENST00000594797.1_5'Flank|PET100_ENST00000456958.3_5'Flank|PET100_ENST00000601406.1_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	138					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R135W(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GGCAGTGCCCGGAGGGCACGG	0.642								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											1	Substitution - Missense(1)	breast(1)											52.0	64.0	60.0					19																	7692239		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.412C>T	19.37:g.7692239G>A	ENSP00000351137:p.Arg138Trp		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R138W	ENST00000358368.4	37	c.412	CCDS32892.1	19	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953629	0.73902	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.34667	1.35;1.35	5.02	2.41	0.29592	Tetratricopeptide-like helical (1);	0.063398	0.64402	D	0.000018	T	0.65523	0.2699	M	0.93808	3.46	0.50171	D	0.999855	D	0.89917	1.0	D	0.65140	0.932	T	0.76361	-0.2987	10	0.87932	D	0	-25.3756	13.4239	0.61013	0.0:0.0:0.593:0.407	.	138	Q9HCS7	SYF1_HUMAN	W	138;135	ENSP00000351137:R138W;ENSP00000438225:R135W	ENSP00000351137:R138W	R	-	1	2	XAB2	7598239	0.997000	0.39634	0.963000	0.40424	0.994000	0.84299	2.055000	0.41345	0.880000	0.35969	0.462000	0.41574	CGG	XAB2	-	smart_HAT	ENSG00000076924		0.642	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	22	0.00	0	G	NM_020196		7692239	7692239	-1	no_errors	ENST00000358368	ensembl	human	known	69_37n	missense	30	33.33	15	SNP	0.774	A
XKR5	389610	genome.wustl.edu	37	8	6669366	6669366	+	RNA	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:6669366C>T	ENST00000518724.1	-	0	1565							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GGGACACCTTCAAACGCAGAG	0.542																																						dbGAP											0													130.0	113.0	118.0					8																	6669366		692	1591	2283	-	-	-			0			AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6669366C>T			Q5GH74	RNA	SNP	-	NULL	ENST00000518724.1	37	NULL		8																																																																																			XKR5	-	-	ENSG00000186530		0.542	XKR5-001	KNOWN	basic	processed_transcript	XKR5	HGNC	processed_transcript	OTTHUMT00000331969.2	136	0.00	0	C	NM_207411		6669366	6669366	-1	no_errors	ENST00000405979	ensembl	human	known	69_37n	rna	58	43.69	45	SNP	0.000	T
XKR6	286046	genome.wustl.edu	37	8	10782265	10782265	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:10782265C>T	ENST00000416569.2	-	2	866	c.840G>A	c.(838-840)atG>atA	p.M280I	XKR6_ENST00000304437.2_Start_Codon_SNP_p.M1I	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	280						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ATTCATACATCATAGCCCAGT	0.562																																						dbGAP											0													126.0	111.0	116.0					8																	10782265		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.840G>A	8.37:g.10782265C>T	ENSP00000416707:p.Met280Ile		Q8TBA0	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.M280I	ENST00000416569.2	37	c.840	CCDS5978.2	8	.	.	.	.	.	.	.	.	.	.	c	28.1	4.890425	0.91889	.	.	ENSG00000171044	ENST00000304437;ENST00000416569	T;T	0.65549	-0.16;-0.16	4.71	4.71	0.59529	.	0.000000	0.85682	U	0.000000	T	0.81536	0.4843	M	0.86740	2.835	0.58432	D	0.999998	D	0.54964	0.969	D	0.70227	0.968	D	0.85446	0.1158	10	0.72032	D	0.01	-58.4078	16.6436	0.85155	0.0:1.0:0.0:0.0	.	280	Q5GH73	XKR6_HUMAN	I	1;280	ENSP00000307120:M1I;ENSP00000416707:M280I	ENSP00000307120:M1I	M	-	3	0	XKR6	10819675	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.830000	0.69324	2.156000	0.67533	0.457000	0.33378	ATG	XKR6	-	pfam_Transport_prot_XK	ENSG00000171044		0.562	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR6	HGNC	protein_coding	OTTHUMT00000383958.1	38	0.00	0	C	NM_173683		10782265	10782265	-1	no_errors	ENST00000416569	ensembl	human	known	69_37n	missense	13	55.17	16	SNP	1.000	T
XPO1	7514	genome.wustl.edu	37	2	61719558	61719558	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:61719558G>C	ENST00000401558.2	-	15	2352	c.1625C>G	c.(1624-1626)tCa>tGa	p.S542*	XPO1_ENST00000406957.1_Nonsense_Mutation_p.S542*|XPO1_ENST00000404992.2_Nonsense_Mutation_p.S542*	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	542	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CATGATATTTGATGCAATAAT	0.313			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													80.0	67.0	71.0					2																	61719558		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1625C>G	2.37:g.61719558G>C	ENSP00000384863:p.Ser542*		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Nonsense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.S542*	ENST00000401558.2	37	c.1625	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.177994	0.99091	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.3421	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	542	.	ENSP00000384863:S542X	S	-	2	0	XPO1	61573062	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.743000	0.98849	2.941000	0.99782	0.655000	0.94253	TCA	XPO1	-	superfamily_ARM-type_fold	ENSG00000082898		0.313	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	32	0.00	0	G	NM_003400		61719558	61719558	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	nonsense	49	39.51	32	SNP	1.000	C
XRCC1	7515	genome.wustl.edu	37	19	44047652	44047652	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:44047652C>G	ENST00000262887.5	-	17	2341	c.1794G>C	c.(1792-1794)ctG>ctC	p.L598L	XRCC1_ENST00000543982.1_Silent_p.L567L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	598	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGTTGTCCATCAGGGCCTGCA	0.587								Other BER factors																														dbGAP											0													126.0	122.0	124.0					19																	44047652		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1794G>C	19.37:g.44047652C>G			Q6IBS4|Q9HCB1	Silent	SNP	pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.L598	ENST00000262887.5	37	c.1794	CCDS12624.1	19																																																																																			XRCC1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000073050		0.587	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463194.1	131	0.00	0	C	NM_006297		44047652	44047652	-1	no_errors	ENST00000262887	ensembl	human	known	69_37n	silent	60	26.83	22	SNP	1.000	G
ZBTB9	221504	genome.wustl.edu	37	6	33423526	33423526	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:33423526G>C	ENST00000395064.2	+	2	917	c.649G>C	c.(649-651)Gag>Cag	p.E217Q		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	217					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(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						agaagaggaggaggaggaaga	0.552																																						dbGAP											0													61.0	61.0	61.0					6																	33423526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.649G>C	6.37:g.33423526G>C	ENSP00000378503:p.Glu217Gln		A2AB19	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E217Q	ENST00000395064.2	37	c.649	CCDS4780.1	6	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010455	0.75046	.	.	ENSG00000213588	ENST00000395064	T	0.06687	3.27	5.1	5.1	0.69264	.	7.298260	0.00875	N	0.002071	T	0.11239	0.0274	L	0.27053	0.805	0.44067	D	0.996813	D	0.76494	0.999	D	0.63488	0.915	T	0.12268	-1.0554	10	0.23302	T	0.38	.	16.0558	0.80805	0.0:0.0:1.0:0.0	.	217	Q96C00	ZBTB9_HUMAN	Q	217	ENSP00000378503:E217Q	ENSP00000378503:E217Q	E	+	1	0	ZBTB9	33531504	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.584000	0.74057	2.648000	0.89879	0.563000	0.77884	GAG	ZBTB9	-	NULL	ENSG00000213588		0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB9	HGNC	protein_coding	OTTHUMT00000276533.1	13	0.00	0	G	NM_152735		33423526	33423526	+1	no_errors	ENST00000395064	ensembl	human	known	69_37n	missense	25	40.48	17	SNP	1.000	C
ZDBF2	57683	genome.wustl.edu	37	2	207171381	207171381	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:207171381C>G	ENST00000374423.3	+	5	2515	c.2129C>G	c.(2128-2130)tCt>tGt	p.S710C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	710							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						AGTTCTGATTCTCCGGCTTCT	0.413																																						dbGAP											0													72.0	72.0	72.0					2																	207171381		1851	4104	5955	-	-	-	SO:0001583	missense	0			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.2129C>G	2.37:g.207171381C>G	ENSP00000363545:p.Ser710Cys		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.S710C	ENST00000374423.3	37	c.2129	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886893	0.33348	.	.	ENSG00000204186	ENST00000374423	T	0.61274	0.12	4.4	4.4	0.53042	.	0.194135	0.25830	N	0.028032	T	0.71846	0.3388	M	0.69358	2.11	0.29680	N	0.841804	D	0.76494	0.999	D	0.81914	0.995	T	0.68021	-0.5519	10	0.54805	T	0.06	.	12.7871	0.57512	0.0:1.0:0.0:0.0	.	710	Q9HCK1	ZDBF2_HUMAN	C	710	ENSP00000363545:S710C	ENSP00000363545:S710C	S	+	2	0	ZDBF2	206879626	0.974000	0.33945	0.888000	0.34837	0.017000	0.09413	3.018000	0.49625	2.738000	0.93877	0.655000	0.94253	TCT	ZDBF2	-	NULL	ENSG00000204186		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	54	0.00	0	C	NM_020923		207171381	207171381	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	26	42.22	19	SNP	0.934	G
ZDBF2	57683	genome.wustl.edu	37	2	207172836	207172836	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:207172836G>C	ENST00000374423.3	+	5	3970	c.3584G>C	c.(3583-3585)tGt>tCt	p.C1195S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1195							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						AATCAATGTTGTGGTTCTGAA	0.413																																						dbGAP											0													104.0	101.0	102.0					2																	207172836		1916	4138	6054	-	-	-	SO:0001583	missense	0			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.3584G>C	2.37:g.207172836G>C	ENSP00000363545:p.Cys1195Ser		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.C1195S	ENST00000374423.3	37	c.3584	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	10.49	1.363788	0.24684	.	.	ENSG00000204186	ENST00000374423	T	0.56611	0.45	4.1	2.3	0.28687	.	.	.	.	.	T	0.40196	0.1107	L	0.47016	1.485	0.26552	N	0.973882	P	0.34662	0.462	B	0.30855	0.121	T	0.22695	-1.0209	9	0.37606	T	0.19	.	6.3198	0.21211	0.2223:0.0:0.7777:0.0	.	1195	Q9HCK1	ZDBF2_HUMAN	S	1195	ENSP00000363545:C1195S	ENSP00000363545:C1195S	C	+	2	0	ZDBF2	206881081	0.848000	0.29623	0.760000	0.31359	0.208000	0.24298	1.024000	0.30077	0.681000	0.31386	0.650000	0.86243	TGT	ZDBF2	-	NULL	ENSG00000204186		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	44	0.00	0	G	NM_020923		207172836	207172836	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	37	42.19	27	SNP	0.869	C
ZDBF2	57683	genome.wustl.edu	37	2	207175364	207175364	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:207175364G>C	ENST00000374423.3	+	5	6498	c.6112G>C	c.(6112-6114)Gat>Cat	p.D2038H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2038							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						TTGGGATAATGATATTCGGTT	0.358																																						dbGAP											0													26.0	24.0	25.0					2																	207175364		1827	4076	5903	-	-	-	SO:0001583	missense	0			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.6112G>C	2.37:g.207175364G>C	ENSP00000363545:p.Asp2038His		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.D2038H	ENST00000374423.3	37	c.6112	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983954	0.53827	.	.	ENSG00000204186	ENST00000374423	T	0.56103	0.48	5.58	-3.14	0.05250	.	.	.	.	.	T	0.46054	0.1373	L	0.50333	1.59	0.09310	N	1	P	0.51351	0.944	P	0.49012	0.598	T	0.42068	-0.9473	9	0.72032	D	0.01	.	2.3635	0.04313	0.2927:0.0965:0.428:0.1828	.	2038	Q9HCK1	ZDBF2_HUMAN	H	2038	ENSP00000363545:D2038H	ENSP00000363545:D2038H	D	+	1	0	ZDBF2	206883609	0.004000	0.15560	0.000000	0.03702	0.063000	0.16089	0.749000	0.26320	-0.346000	0.08312	0.563000	0.77884	GAT	ZDBF2	-	NULL	ENSG00000204186		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	16	0.00	0	G	NM_020923		207175364	207175364	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	0.000	C
ZEB1	6935	genome.wustl.edu	37	10	31799649	31799649	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:31799649G>C	ENST00000320985.10	+	5	640	c.530G>C	c.(529-531)aGa>aCa	p.R177T	ZEB1_ENST00000542815.3_Missense_Mutation_p.R110T|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.R157T|ZEB1_ENST00000361642.5_Missense_Mutation_p.R178T|ZEB1_ENST00000446923.2_Missense_Mutation_p.R161T			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	177					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TATTGTGATAGAGGCTATAAA	0.323																																					Ovarian(40;423 959 14296 36701 49589)	dbGAP											0													74.0	72.0	72.0					10																	31799649		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.530G>C	10.37:g.31799649G>C	ENSP00000319248:p.Arg177Thr		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.R178T	ENST00000320985.10	37	c.533	CCDS7169.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.990285|4.990285	0.93106|0.93106	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000543514|ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000424869;ENST00000446923	.|T;T;T;T;T	.|0.28895	.|1.59;1.59;1.59;1.59;1.59	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.081866	.|0.52532	.|D	.|0.000075	.|T	.|0.57681	.|0.2070	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.999;0.999;1.0;0.999;0.999	.|D;D;D;D;D;D;D;D	.|0.97110	.|1.0;0.997;0.994;0.994;0.994;0.999;0.994;0.994	.|T	.|0.57470	.|-0.7806	.|10	.|0.87932	.|D	.|0	.|-20.1634	20.1174|20.1174	0.97942|0.97942	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|110;177;161;177;177;157;178;177	.|F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.|.;.;.;.;.;.;.;ZEB1_HUMAN	.|T	-1|177;178;177;110;177;157;36;178;161	.|ENSP00000354487:R178T;ENSP00000444891:R110T;ENSP00000319248:R177T;ENSP00000415961:R178T;ENSP00000391612:R161T	.|ENSP00000319248:R177T	.|R	+|+	.|2	.|0	ZEB1|ZEB1	31839655|31839655	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.388000|9.388000	0.97237|0.97237	2.771000|2.771000	0.95319|0.95319	0.591000|0.591000	0.81541|0.81541	.|AGA	ZEB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000148516		0.323	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	37	0.00	0	G	NM_030751		31799649	31799649	+1	no_errors	ENST00000361642	ensembl	human	known	69_37n	missense	42	37.31	25	SNP	1.000	C
ZNF106	64397	genome.wustl.edu	37	15	42743889	42743889	+	Missense_Mutation	SNP	G	G	A	rs147629444		TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr15:42743889G>A	ENST00000263805.4	-	2	838	c.512C>T	c.(511-513)tCc>tTc	p.S171F	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	171					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCAAGTCGAGGAGCCTCCTGC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20744	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													69.0	69.0	69.0					15																	42743889		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.512C>T	15.37:g.42743889G>A	ENSP00000263805:p.Ser171Phe		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S171F	ENST00000263805.4	37	c.512	CCDS32208.1	15	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.22	3.575674	0.65878	.	.	ENSG00000103994	ENST00000263805	T	0.58060	0.36	5.85	5.85	0.93711	.	0.371789	0.26478	N	0.024153	T	0.63058	0.2479	L	0.50333	1.59	0.80722	D	1	D	0.53885	0.963	P	0.52710	0.707	T	0.63611	-0.6598	10	0.66056	D	0.02	-0.4065	20.1747	0.98176	0.0:0.0:1.0:0.0	.	171	Q9H2Y7	ZF106_HUMAN	F	171	ENSP00000263805:S171F	ENSP00000263805:S171F	S	-	2	0	ZFP106	40531181	1.000000	0.71417	0.990000	0.47175	0.907000	0.53573	5.307000	0.65762	2.768000	0.95171	0.645000	0.84053	TCC	ZFP106	-	NULL	ENSG00000103994		0.453	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	69	0.00	0	G	NM_022473		42743889	42743889	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	missense	29	40.82	20	SNP	0.994	A
ZFYVE26	23503	genome.wustl.edu	37	14	68219189	68219189	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:68219189C>G	ENST00000347230.4	-	40	7381	c.7243G>C	c.(7243-7245)Gag>Cag	p.E2415Q	RN7SL213P_ENST00000463482.2_RNA|ZFYVE26_ENST00000557306.1_Missense_Mutation_p.E261Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2415					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTCTCTTTCTCCACCAACTGG	0.522																																						dbGAP											0													109.0	81.0	90.0					14																	68219189		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7243G>C	14.37:g.68219189C>G	ENSP00000251119:p.Glu2415Gln		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E2415Q	ENST00000347230.4	37	c.7243	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269315	0.40095	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.45668	1.76;0.89	6.04	5.05	0.67936	.	0.124431	0.53938	D	0.000043	T	0.17195	0.0413	N	0.08118	0	0.80722	D	1	B;P	0.34462	0.039;0.454	B;B	0.22152	0.025;0.038	T	0.08289	-1.0729	10	0.23302	T	0.38	-23.6925	7.3418	0.26641	0.0:0.8206:0.0:0.1794	.	261;2415	Q96H43;Q68DK2	.;ZFY26_HUMAN	Q	2415;2394;261	ENSP00000251119:E2415Q;ENSP00000452142:E261Q	ENSP00000251119:E2415Q	E	-	1	0	ZFYVE26	67288942	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.120000	0.50430	2.873000	0.98535	0.561000	0.74099	GAG	ZFYVE26	-	NULL	ENSG00000072121		0.522	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	90	0.00	0	C	NM_015346		68219189	68219189	-1	no_errors	ENST00000347230	ensembl	human	known	69_37n	missense	27	33.33	14	SNP	1.000	G
ZFYVE1	53349	genome.wustl.edu	37	14	73490905	73490905	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr14:73490905C>G	ENST00000556143.1	-	2	1032	c.312G>C	c.(310-312)caG>caC	p.Q104H	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.Q104H|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.Q104H	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	104					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GAGTCCTCTTCTGGCACTCCA	0.507																																						dbGAP											0													211.0	218.0	216.0					14																	73490905		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.312G>C	14.37:g.73490905C>G	ENSP00000450742:p.Gln104His		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.Q104H	ENST00000556143.1	37	c.312	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503523	0.64298	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.65364	-0.15;-0.14;-0.14	5.25	3.4	0.38934	.	0.059403	0.64402	D	0.000002	T	0.56992	0.2023	L	0.27053	0.805	0.80722	D	1	D;P	0.54207	0.965;0.875	P;P	0.51135	0.66;0.459	T	0.62011	-0.6944	10	0.66056	D	0.02	-25.1437	11.8703	0.52517	0.0:0.857:0.0:0.143	.	104;104	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	H	104	ENSP00000452442:Q104H;ENSP00000326921:Q104H;ENSP00000450742:Q104H	ENSP00000326921:Q104H	Q	-	3	2	ZFYVE1	72560658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.869000	0.48444	1.456000	0.47831	0.650000	0.86243	CAG	ZFYVE1	-	superfamily_Growth_fac_rcpt	ENSG00000165861		0.507	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	60	0.00	0	C	NM_021260		73490905	73490905	-1	no_errors	ENST00000553891	ensembl	human	known	69_37n	missense	67	36.19	38	SNP	1.000	G
ZHX2	22882	genome.wustl.edu	37	8	123964657	123964657	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:123964657G>A	ENST00000314393.4	+	3	1742	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	303	Required for homodimerization.|Required for interaction with NFYA.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CAAACACCCAGAGGAGCACAT	0.542																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	dbGAP											0													89.0	84.0	86.0					8																	123964657		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.907G>A	8.37:g.123964657G>A	ENSP00000314709:p.Glu303Lys			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E303K	ENST00000314393.4	37	c.907	CCDS6336.1	8	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697894	0.88830	.	.	ENSG00000178764	ENST00000314393	D	0.92199	-2.99	5.73	5.73	0.89815	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96367	0.8815	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96053	0.9033	10	0.59425	D	0.04	-23.9232	19.9009	0.96985	0.0:0.0:1.0:0.0	.	303	Q9Y6X8	ZHX2_HUMAN	K	303	ENSP00000314709:E303K	ENSP00000314709:E303K	E	+	1	0	ZHX2	124033838	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.429000	0.97481	2.717000	0.92951	0.484000	0.47621	GAG	ZHX2	-	superfamily_Homeodomain-like,smart_Homeodomain	ENSG00000178764		0.542	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	41	0.00	0	G	NM_014943		123964657	123964657	+1	no_errors	ENST00000314393	ensembl	human	known	69_37n	missense	29	44.23	23	SNP	1.000	A
ZKSCAN2	342357	genome.wustl.edu	37	16	25251885	25251885	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:25251885C>T	ENST00000328086.7	-	7	2959	c.2156G>A	c.(2155-2157)gGa>gAa	p.G719E	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	719					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTGTCTAATTCCTTGAAGATT	0.443																																						dbGAP											0													110.0	100.0	103.0					16																	25251885		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2156G>A	16.37:g.25251885C>T	ENSP00000331626:p.Gly719Glu		A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G719E	ENST00000328086.7	37	c.2156	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	6.858	0.527582	0.13127	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07021	3.23	5.41	2.34	0.29019	.	0.197341	0.36101	N	0.002794	T	0.10852	0.0265	M	0.85041	2.73	0.25579	N	0.986811	B;B	0.30851	0.297;0.09	B;B	0.27170	0.048;0.077	T	0.19877	-1.0292	10	0.34782	T	0.22	-13.6089	4.3238	0.11031	0.1513:0.4752:0.2933:0.0803	.	515;719	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	E	719	ENSP00000331626:G719E	ENSP00000331626:G719E	G	-	2	0	ZKSCAN2	25159386	0.000000	0.05858	0.433000	0.26760	0.023000	0.10783	0.015000	0.13355	0.393000	0.25203	0.655000	0.94253	GGA	ZKSCAN2	-	NULL	ENSG00000155592		0.443	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	92	0.00	0	C	NM_001012981		25251885	25251885	-1	no_errors	ENST00000328086	ensembl	human	known	69_37n	missense	96	32.17	46	SNP	0.443	T
ZNF17	7565	genome.wustl.edu	37	19	57932368	57932368	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:57932368G>C	ENST00000601808.1	+	3	1721	c.1508G>C	c.(1507-1509)tGt>tCt	p.C503S	ZNF17_ENST00000307658.7_Missense_Mutation_p.C505S|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGCAGCATTTGTGGGAAATCC	0.418																																					Melanoma(149;1637 1853 29914 42869 44988)	dbGAP											0													110.0	113.0	112.0					19																	57932368		2195	4296	6491	-	-	-	SO:0001583	missense	0			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1508G>C	19.37:g.57932368G>C	ENSP00000471905:p.Cys503Ser		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	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.C503S	ENST00000601808.1	37	c.1508	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115921	0.37339	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.99	1.99	0.26369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84969	0.5590	H	0.95470	3.675	0.40285	D	0.978443	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.87723	0.2574	8	0.72032	D	0.01	.	10.9744	0.47456	0.0:0.0:1.0:0.0	.	505;503	P17021-2;P17021	.;ZNF17_HUMAN	S	503	.	ENSP00000302455:C503S	C	+	2	0	ZNF17	62624180	1.000000	0.71417	0.016000	0.15963	0.062000	0.15995	3.290000	0.51755	1.084000	0.41184	0.467000	0.42956	TGT	ZNF17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186272		0.418	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	71	0.00	0	G	NM_006959		57932368	57932368	+1	no_errors	ENST00000307658	ensembl	human	known	69_37n	missense	123	34.74	66	SNP	1.000	C
ZNF19	7567	genome.wustl.edu	37	16	71510090	71510090	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:71510090C>T	ENST00000288177.5	-	6	615	c.360G>A	c.(358-360)ctG>ctA	p.L120L	ZNF19_ENST00000564230.1_Silent_p.L120L|ZNF19_ENST00000565637.1_Silent_p.L78L|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Silent_p.L50L|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	120				L -> V (in Ref. 4; CAD38915). {ECO:0000305}.	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)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GGACACTCTTCAGCTGACCAT	0.433																																						dbGAP											0													129.0	116.0	120.0					16																	71510090		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.360G>A	16.37:g.71510090C>T			A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Silent	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.L120	ENST00000288177.5	37	c.360	CCDS10901.1	16																																																																																			ZNF19	-	NULL	ENSG00000157429		0.433	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF19	HGNC	protein_coding	OTTHUMT00000268993.2	153	0.00	0	C	NM_006961		71510090	71510090	-1	no_errors	ENST00000288177	ensembl	human	known	69_37n	silent	105	36.53	61	SNP	0.160	T
ZNF20	7568	genome.wustl.edu	37	19	12243837	12243837	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:12243837C>T	ENST00000334213.5	-	4	1388	c.1164G>A	c.(1162-1164)acG>acA	p.T388T	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000485451.1_5'Flank	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	388					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(1)|kidney(1)|lung(6)	8						CTCCACTGTGCGTCCTTTCAT	0.418																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1164G>A	19.37:g.12243837C>T			Q8N457|Q9UG41	Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T388	ENST00000334213.5	37	c.1164	CCDS45986.1	19																																																																																			ZNF20	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000132010		0.418	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF20	HGNC	protein_coding	OTTHUMT00000344101.1	63	0.00	0	C	NM_021143		12243837	12243837	-1	no_errors	ENST00000334213	ensembl	human	known	69_37n	silent	118	35.87	66	SNP	0.076	T
ZNF22	7570	genome.wustl.edu	37	10	45498934	45498934	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:45498934G>C	ENST00000298299.3	+	2	711	c.118G>C	c.(118-120)Gac>Cac	p.D40H	C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	40					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				TATTCGATTTGACTCAAGCTT	0.448																																						dbGAP											0													68.0	68.0	68.0					10																	45498934		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.118G>C	10.37:g.45498934G>C	ENSP00000298299:p.Asp40His		Q5T741|Q96FM4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D40H	ENST00000298299.3	37	c.118	CCDS7211.1	10	.	.	.	.	.	.	.	.	.	.	G	7.461	0.644769	0.14451	.	.	ENSG00000165512	ENST00000298299	T	0.08370	3.1	4.94	4.04	0.47022	.	0.250565	0.28067	N	0.016731	T	0.05731	0.0150	N	0.24115	0.695	0.33472	D	0.586309	B	0.22909	0.077	B	0.19666	0.026	T	0.09509	-1.0671	10	0.49607	T	0.09	-13.0526	6.4678	0.21991	0.0911:0.0:0.7297:0.1791	.	40	P17026	ZNF22_HUMAN	H	40	ENSP00000298299:D40H	ENSP00000298299:D40H	D	+	1	0	ZNF22	44818940	0.257000	0.24022	0.634000	0.29324	0.214000	0.24535	0.553000	0.23391	1.436000	0.47453	0.655000	0.94253	GAC	ZNF22	-	NULL	ENSG00000165512		0.448	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF22	HGNC	protein_coding	OTTHUMT00000047761.1	9	0.00	0	G	NM_006963		45498934	45498934	+1	no_errors	ENST00000298299	ensembl	human	known	69_37n	missense	23	48.89	22	SNP	0.939	C
ZNF274	10782	genome.wustl.edu	37	19	58724197	58724197	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:58724197C>G	ENST00000326804.4	+	9	2106	c.1647C>G	c.(1645-1647)ctC>ctG	p.L549L	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L517L|ZNF274_ENST00000424679.2_Silent_p.L444L	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GCTCTTCCCTCACACAGCATC	0.488																																						dbGAP											0													94.0	103.0	100.0					19																	58724197		2063	4223	6286	-	-	-	SO:0001819	synonymous_variant	0			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1647C>G	19.37:g.58724197C>G			Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L549	ENST00000326804.4	37	c.1647		19																																																																																			ZNF274	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171606		0.488	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF274	HGNC	protein_coding		50	0.00	0	C	NM_133502		58724197	58724197	+1	no_errors	ENST00000326804	ensembl	human	known	69_37n	silent	70	40.68	48	SNP	0.027	G
ZNF322	79692	genome.wustl.edu	37	6	26637617	26637617	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:26637617C>T	ENST00000415922.2	-	4	1810	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	ZNF322_ENST00000461899.1_5'Flank|ZNF322_ENST00000471278.1_Missense_Mutation_p.E389K|RP11-457M11.2_ENST00000456172.1_RNA	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGGCTAAGCTCAAGACCTTTT	0.413																																						dbGAP											0													132.0	101.0	112.0					6																	26637617		2201	4297	6498	-	-	-	SO:0001583	missense	0			AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.1165G>A	6.37:g.26637617C>T	ENSP00000418897:p.Glu389Lys		A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E389K	ENST00000415922.2	37	c.1165	CCDS4617.1	6	.	.	.	.	.	.	.	.	.	.	c	9.276	1.046977	0.19748	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.08102	3.13;3.13	4.9	4.02	0.46733	.	0.145674	0.31922	N	0.006848	T	0.01254	0.0041	N	0.03967	-0.31	0.24802	N	0.992692	B	0.02656	0.0	B	0.04013	0.001	T	0.47787	-0.9090	10	0.52906	T	0.07	-0.5503	6.7015	0.23227	0.0:0.8142:0.0:0.1858	.	389	Q6U7Q0	ZN322_HUMAN	K	389	ENSP00000418897:E389K;ENSP00000419728:E389K	ENSP00000418897:E389K	E	-	1	0	ZNF322	26745596	0.000000	0.05858	0.856000	0.33681	0.930000	0.56654	-0.684000	0.05173	2.689000	0.91719	0.655000	0.94253	GAG	ZNF322	-	NULL	ENSG00000181315		0.413	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF322	HGNC	protein_coding	OTTHUMT00000040126.2	261	0.00	0	C	NM_024639		26637617	26637617	-1	no_errors	ENST00000415922	ensembl	human	known	69_37n	missense	234	20.07	59	SNP	0.776	T
ZNF324B	388569	genome.wustl.edu	37	19	58966888	58966888	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:58966888G>C	ENST00000336614.4	+	4	684	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	ZNF324B_ENST00000545523.1_Missense_Mutation_p.E193Q|ZNF324B_ENST00000391696.1_Missense_Mutation_p.E183Q	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	193					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(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGGACGCCTGAGCGGCAGAA	0.672																																						dbGAP											0													33.0	39.0	37.0					19																	58966888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.577G>C	19.37:g.58966888G>C	ENSP00000337473:p.Glu193Gln		B2RTZ6|Q6ZMX8|Q6ZS42	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.E193Q	ENST00000336614.4	37	c.577	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	G	4.018	0.000736	0.07819	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.07216	3.39;3.39;3.21	2.48	-2.64	0.06114	.	1.059500	0.07474	N	0.902809	T	0.05547	0.0146	L	0.29908	0.895	0.09310	N	1	B;B	0.24258	0.1;0.002	B;B	0.26864	0.074;0.007	T	0.45086	-0.9285	10	0.72032	D	0.01	.	0.5482	0.00657	0.3684:0.1755:0.2783:0.1778	.	193;183	Q6AW86;C9JTQ8	Z324B_HUMAN;.	Q	193;193;183	ENSP00000337473:E193Q;ENSP00000438930:E193Q;ENSP00000375578:E183Q	ENSP00000337473:E193Q	E	+	1	0	ZNF324B	63658700	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.540000	0.23191	-0.498000	0.06632	-0.424000	0.05967	GAG	ZNF324B	-	NULL	ENSG00000249471		0.672	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	HGNC	protein_coding	OTTHUMT00000467038.1	22	0.00	0	G	NM_207395		58966888	58966888	+1	no_errors	ENST00000336614	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	0.000	C
ZNF33A	7581	genome.wustl.edu	37	10	38343824	38343824	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:38343824G>A	ENST00000458705.2	+	5	927	c.769G>A	c.(769-771)Gat>Aat	p.D257N	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.D257N|ZNF33A_ENST00000374618.3_Missense_Mutation_p.D258N|ZNF33A_ENST00000432900.2_Missense_Mutation_p.D264N			Q06730	ZN33A_HUMAN	zinc finger protein 33A	257					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AACTTTGTGTGATAGTTCATC	0.393																																						dbGAP											0													74.0	70.0	71.0					10																	38343824		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.769G>A	10.37:g.38343824G>A	ENSP00000387713:p.Asp257Asn		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	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.D264N	ENST00000458705.2	37	c.790	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	G	8.011	0.757425	0.15846	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.06849	3.29;3.25;3.27;3.27	2.05	-0.429	0.12303	.	0.424311	0.17358	N	0.177148	T	0.08846	0.0219	N	0.14661	0.345	0.09310	N	1	D;D;B	0.76494	0.998;0.999;0.41	D;D;B	0.81914	0.995;0.922;0.103	T	0.29761	-1.0001	10	0.24483	T	0.36	.	2.7811	0.05361	0.2083:0.3063:0.4854:0.0	.	264;257;258	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	N	258;264;257;257	ENSP00000363747:D258N;ENSP00000402467:D264N;ENSP00000387713:D257N;ENSP00000304268:D257N	ENSP00000304268:D257N	D	+	1	0	ZNF33A	38383830	0.000000	0.05858	0.004000	0.12327	0.010000	0.07245	-1.147000	0.03188	0.171000	0.19730	0.460000	0.39030	GAT	ZNF33A	-	NULL	ENSG00000189180		0.393	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	57	0.00	0	G	NM_006974		38343824	38343824	+1	no_errors	ENST00000432900	ensembl	human	known	69_37n	missense	67	33.00	33	SNP	0.002	A
ZNF33A	7581	genome.wustl.edu	37	10	38344439	38344439	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr10:38344439C>G	ENST00000458705.2	+	5	1542	c.1384C>G	c.(1384-1386)Cac>Gac	p.H462D	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H462D|ZNF33A_ENST00000374618.3_Missense_Mutation_p.H463D|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H469D			Q06730	ZN33A_HUMAN	zinc finger protein 33A	462					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCAGAGAACTCACACAGGTGA	0.398																																						dbGAP											0													64.0	63.0	63.0					10																	38344439		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1384C>G	10.37:g.38344439C>G	ENSP00000387713:p.His462Asp		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	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.H469D	ENST00000458705.2	37	c.1405	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734419	0.48939	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33161	N	0.005210	D	0.84474	0.5480	H	0.95504	3.68	0.33129	D	0.542839	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.88148	0.2849	10	0.87932	D	0	.	9.6894	0.40118	0.0:1.0:0.0:0.0	.	469;462;463	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	D	463;469;462;462	ENSP00000363747:H463D;ENSP00000402467:H469D;ENSP00000387713:H462D;ENSP00000304268:H462D	ENSP00000304268:H462D	H	+	1	0	ZNF33A	38384445	1.000000	0.71417	0.984000	0.44739	0.713000	0.41058	6.576000	0.74023	1.117000	0.41842	0.460000	0.39030	CAC	ZNF33A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189180		0.398	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	73	0.00	0	C	NM_006974		38344439	38344439	+1	no_errors	ENST00000432900	ensembl	human	known	69_37n	missense	96	38.85	61	SNP	0.998	G
ZNF407	55628	genome.wustl.edu	37	18	72776056	72776056	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr18:72776056G>C	ENST00000299687.5	+	8	6379	c.6379G>C	c.(6379-6381)Gag>Cag	p.E2127Q		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CATCATGCAGGAGGCGCAGGG	0.652																																						dbGAP											0													30.0	37.0	34.0					18																	72776056		2178	4270	6448	-	-	-	SO:0001583	missense	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6379G>C	18.37:g.72776056G>C	ENSP00000299687:p.Glu2127Gln		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.E2127Q	ENST00000299687.5	37	c.6379	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706711	0.68615	.	.	ENSG00000215421	ENST00000299687	T	0.15372	2.43	4.67	4.67	0.58626	.	.	.	.	.	T	0.39682	0.1087	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.35674	-0.9779	9	0.72032	D	0.01	.	17.582	0.87971	0.0:0.0:1.0:0.0	.	2127	Q9C0G0	ZN407_HUMAN	Q	2127	ENSP00000299687:E2127Q	ENSP00000299687:E2127Q	E	+	1	0	ZNF407	70905044	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.991000	0.76232	1.739000	0.51704	0.379000	0.24179	GAG	ZNF407	-	NULL	ENSG00000215421		0.652	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	28	0.00	0	G	NM_017757		72776056	72776056	+1	no_errors	ENST00000299687	ensembl	human	known	69_37n	missense	2	77.78	7	SNP	1.000	C
ZNF423	23090	genome.wustl.edu	37	16	49671691	49671691	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr16:49671691C>T	ENST00000561648.1	-	4	1425	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	ZNF423_ENST00000562520.1_Missense_Mutation_p.E398K|ZNF423_ENST00000562871.1_Missense_Mutation_p.E398K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E341K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E341K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E398K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E458K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	458					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGAACGTGCTCGTTGAGGTTG	0.572																																						dbGAP											0													145.0	124.0	131.0					16																	49671691		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1372G>A	16.37:g.49671691C>T	ENSP00000455426:p.Glu458Lys		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E458K	ENST00000561648.1	37	c.1372	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904536	0.72868	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27104	1.69;1.69	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	L	0.32530	0.975	0.53005	D	0.999964	D	0.89917	1.0	D	0.81914	0.995	T	0.12041	-1.0563	9	.	.	.	.	18.4335	0.90634	0.0:1.0:0.0:0.0	.	458	Q2M1K9	ZN423_HUMAN	K	458;341	ENSP00000262383:E458K;ENSP00000442321:E341K	.	E	-	1	0	ZNF423	48229192	1.000000	0.71417	0.994000	0.49952	0.885000	0.51271	5.999000	0.70665	2.346000	0.79739	0.561000	0.74099	GAG	ZNF423	-	smart_Znf_C2H2-like	ENSG00000102935		0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	51	0.00	0	C	NM_015069		49671691	49671691	-1	no_errors	ENST00000262383	ensembl	human	known	69_37n	missense	40	33.33	20	SNP	1.000	T
ZNF441	126068	genome.wustl.edu	37	19	11891007	11891007	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:11891007G>C	ENST00000357901.4	+	4	470	c.368G>C	c.(367-369)aGa>aCa	p.R123T	ZNF441_ENST00000454339.2_Missense_Mutation_p.R56T	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCTACGTTAGAGTTGACAGT	0.428																																						dbGAP											0													113.0	98.0	103.0					19																	11891007		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.368G>C	19.37:g.11891007G>C	ENSP00000350576:p.Arg123Thr			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.R123T	ENST00000357901.4	37	c.368	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	g	6.274	0.418694	0.11870	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.08807	3.35;3.05	1.22	-1.81	0.07882	.	.	.	.	.	T	0.08179	0.0204	M	0.64676	1.99	0.09310	N	1	B	0.21225	0.053	B	0.06405	0.002	T	0.35674	-0.9779	9	0.66056	D	0.02	.	3.0817	0.06265	0.0:0.3002:0.3968:0.303	.	123	Q8N8Z8	ZN441_HUMAN	T	79;123;56	ENSP00000350576:R123T;ENSP00000403738:R56T	ENSP00000350576:R123T	R	+	2	0	ZNF441	11752007	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.883000	0.04170	-0.435000	0.07264	0.305000	0.20034	AGA	ZNF441	-	NULL	ENSG00000197044		0.428	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	52	0.00	0	G	NM_152355		11891007	11891007	+1	no_errors	ENST00000357901	ensembl	human	known	69_37n	missense	118	38.66	75	SNP	0.000	C
ZNF430	80264	genome.wustl.edu	37	19	21240097	21240097	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:21240097G>A	ENST00000261560.5	+	5	1164	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	328					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GCTTTTAACCGGTCCTCACAC	0.408																																						dbGAP											0													61.0	64.0	63.0					19																	21240097		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.983G>A	19.37:g.21240097G>A	ENSP00000261560:p.Arg328Gln		Q86V70	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.R328Q	ENST00000261560.5	37	c.983	CCDS32978.1	19	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.445876	0.00178	.	.	ENSG00000118620	ENST00000261560	T	0.07444	3.19	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	L	0.33624	1.015	0.09310	N	1	B;B	0.26602	0.154;0.054	B;B	0.09377	0.002;0.004	T	0.44726	-0.9309	9	0.02654	T	1	.	3.1828	0.06590	0.3011:0.255:0.4439:0.0	.	327;328	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	Q	328	ENSP00000261560:R328Q	ENSP00000261560:R328Q	R	+	2	0	ZNF430	21031937	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-5.197000	0.00142	-0.677000	0.05231	-0.693000	0.03709	CGG	ZNF430	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000118620		0.408	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF430	HGNC	protein_coding	OTTHUMT00000463539.1	10	0.00	0	G	NM_025189		21240097	21240097	+1	no_errors	ENST00000261560	ensembl	human	known	69_37n	missense	80	40.74	55	SNP	0.000	A
ZNF451	26036	genome.wustl.edu	37	6	57033220	57033220	+	Splice_Site	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr6:57033220G>C	ENST00000370706.4	+	15	3383		c.e15-1		RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000609545.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588819.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000590164.1_RNA|RP11-203B9.4_ENST00000592785.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Splice_Site|RP11-203B9.4_ENST00000589312.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586234.1_RNA|RP11-203B9.4_ENST00000589394.1_RNA|RP11-203B9.4_ENST00000585414.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTTAATGCAGATGTGGAATT	0.328																																						dbGAP											0													80.0	83.0	82.0					6																	57033220		2203	4296	6499	-	-	-	SO:0001630	splice_region_variant	0			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.3140-1G>C	6.37:g.57033220G>C			Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Splice_Site	SNP	-	e15-1	ENST00000370706.4	37	c.3140-1	CCDS43477.1	6	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925363	0.52759	.	.	ENSG00000112200	ENST00000370706;ENST00000357489	.	.	.	5.73	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5258	0.61594	0.0755:0.0:0.9245:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF451	57141179	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.043000	0.71004	1.416000	0.47057	-0.140000	0.14226	.	ZNF451	-	-	ENSG00000112200		0.328	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	HGNC	protein_coding	OTTHUMT00000041035.2	35	0.00	0	G	NM_015555	Intron	57033220	57033220	+1	no_errors	ENST00000370706	ensembl	human	known	69_37n	splice_site	84	36.36	48	SNP	1.000	C
ZNF462	58499	genome.wustl.edu	37	9	109685791	109685791	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr9:109685791G>C	ENST00000277225.5	+	2	416	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	ZNF462_ENST00000457913.1_Missense_Mutation_p.E43Q|RP11-508N12.4_ENST00000451160.2_Missense_Mutation_p.E43Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	43					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAATGTGAATGAGCTACGATG	0.448																																						dbGAP											0													230.0	207.0	215.0					9																	109685791		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.127G>C	9.37:g.109685791G>C	ENSP00000277225:p.Glu43Gln		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E43Q	ENST00000277225.5	37	c.127	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	9.796	1.179113	0.21787	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05382	3.45;3.89	5.93	3.94	0.45596	.	0.287341	0.39759	N	0.001264	T	0.03348	0.0097	N	0.03608	-0.345	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52646	-0.8548	10	0.23891	T	0.37	.	15.1529	0.72717	0.0:0.3308:0.6692:0.0	.	43	Q96JM2	ZN462_HUMAN	Q	43	ENSP00000277225:E43Q;ENSP00000414570:E43Q	ENSP00000277225:E43Q	E	+	1	0	ZNF462	108725612	0.180000	0.23148	0.968000	0.41197	0.669000	0.39330	3.829000	0.55760	2.815000	0.96918	0.561000	0.74099	GAG	ZNF462	-	NULL	ENSG00000148143		0.448	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	187	0.00	0	G	NM_021224		109685791	109685791	+1	no_errors	ENST00000457913	ensembl	human	known	69_37n	missense	70	37.50	42	SNP	0.914	C
ZNF492	57615	genome.wustl.edu	37	19	22848028	22848028	+	Silent	SNP	G	G	A	rs3745115	byFrequency	TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:22848028G>A	ENST00000456783.2	+	4	1801	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K519N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACATTGCAAAGATTTCCAAAT	0.323																																						dbGAP											1	Substitution - Missense(1)	stomach(1)											18.0	18.0	18.0					19																	22848028		1781	4025	5806	-	-	-	SO:0001819	synonymous_variant	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1557G>A	19.37:g.22848028G>A			Q08EI7|Q08EI8	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K519	ENST00000456783.2	37	c.1557	CCDS46032.1	19																																																																																			ZNF492	-	NULL	ENSG00000229676		0.323	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	70	0.00	0	G	NM_020855		22848028	22848028	+1	no_errors	ENST00000456783	ensembl	human	known	69_37n	silent	109	33.33	55	SNP	0.007	A
ZNF468	90333	genome.wustl.edu	37	19	53352452	53352452	+	Silent	SNP	G	G	A	rs143499271	byFrequency	TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:53352452G>A	ENST00000595646.1	-	3	150	c.30C>T	c.(28-30)ttC>ttT	p.F10F	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_Silent_p.F10F|ZNF468_ENST00000390651.4_5'UTR|ZNF468_ENST00000396409.4_5'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	10	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCACGTCCCTGAATGTCAATA	0.443													-|||	53	0.0105831	0.0401	0.0	5008	,	,		20477	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													143.0	150.0	148.0					19																	53352452		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.30C>T	19.37:g.53352452G>A			A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	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.F10	ENST00000595646.1	37	c.30	CCDS33094.1	19																																																																																			ZNF468	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000204604		0.443	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	HGNC	protein_coding	OTTHUMT00000463098.1	137	0.00	0	G	NM_001008801		53352452	53352452	-1	no_errors	ENST00000243639	ensembl	human	known	69_37n	silent	197	38.44	123	SNP	0.966	A
ZNF501	115560	genome.wustl.edu	37	3	44776036	44776036	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr3:44776036G>C	ENST00000396048.2	+	3	560	c.123G>C	c.(121-123)caG>caC	p.Q41H		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	41					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)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		CCCAGCACCAGAGGATTCACA	0.423																																						dbGAP											0													91.0	100.0	97.0					3																	44776036		2175	4290	6465	-	-	-	SO:0001583	missense	0			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.123G>C	3.37:g.44776036G>C	ENSP00000379363:p.Gln41His		B4DLY7|Q96NU9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q41H	ENST00000396048.2	37	c.123	CCDS2720.2	3	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252436	0.22880	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.18502	2.21	2.26	1.33	0.21861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18467	0.0443	M	0.74467	2.265	0.22896	N	0.998594	B;B	0.13594	0.008;0.002	B;B	0.09377	0.004;0.001	T	0.27262	-1.0079	9	0.59425	D	0.04	.	4.4561	0.11643	0.1334:0.0:0.6398:0.2268	.	41;41	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	H	41	ENSP00000379363:Q41H	ENSP00000330388:Q41H	Q	+	3	2	ZNF501	44751040	0.000000	0.05858	0.986000	0.45419	0.968000	0.65278	0.005000	0.13129	0.466000	0.27193	0.563000	0.77884	CAG	ZNF501	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186446		0.423	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF501	HGNC	protein_coding	OTTHUMT00000256654.4	51	0.00	0	G	NM_145044		44776036	44776036	+1	no_errors	ENST00000396048	ensembl	human	known	69_37n	missense	93	41.98	68	SNP	0.957	C
ZNF565	147929	genome.wustl.edu	37	19	36673394	36673394	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:36673394C>T	ENST00000355114.5	-	5	2320	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	ZNF565_ENST00000304116.5_Missense_Mutation_p.E492K|ZNF565_ENST00000392173.2_Missense_Mutation_p.E492K			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	532					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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTGTAGTGTTCAATGAGTTGT	0.393																																						dbGAP											0													75.0	71.0	72.0					19																	36673394		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1594G>A	19.37:g.36673394C>T	ENSP00000347234:p.Glu532Lys		B3KQ35|Q6NUS2	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.E492K	ENST00000355114.5	37	c.1474		19	.	.	.	.	.	.	.	.	.	.	c	8.441	0.850925	0.17034	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.14391	2.51;2.51;2.51	4.7	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35838	N	0.002951	T	0.04497	0.0123	N	0.03253	-0.375	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.43686	-0.9376	10	0.08179	T	0.78	.	7.4801	0.27400	0.1897:0.6269:0.1834:0.0	.	492	Q8N9K5	ZN565_HUMAN	K	492;492;532	ENSP00000376013:E492K;ENSP00000306869:E492K;ENSP00000347234:E532K	ENSP00000306869:E492K	E	-	1	0	ZNF565	41365234	0.000000	0.05858	0.996000	0.52242	0.994000	0.84299	-0.569000	0.05902	1.322000	0.45245	0.650000	0.86243	GAA	ZNF565	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196357		0.393	ZNF565-003	PUTATIVE	basic	protein_coding	ZNF565	HGNC	protein_coding	OTTHUMT00000451697.1	40	0.00	0	C	NM_152477		36673394	36673394	-1	no_errors	ENST00000304116	ensembl	human	known	69_37n	missense	73	24.74	24	SNP	0.005	T
ZNF626	199777	genome.wustl.edu	37	19	20808204	20808204	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:20808204G>C	ENST00000601440.1	-	4	625	c.479C>G	c.(478-480)tCa>tGa	p.S160*	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	160					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(1)|endometrium(1)|lung(3)|skin(1)	6						TTGTCCGTTTGAATTTGGAAA	0.318																																						dbGAP											0													93.0	89.0	91.0					19																	20808204		2038	4229	6267	-	-	-	SO:0001587	stop_gained	0			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.479C>G	19.37:g.20808204G>C	ENSP00000469958:p.Ser160*		Q8N8T4|Q96QM1	Nonsense_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.S160*	ENST00000601440.1	37	c.479	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	8.920	0.960886	0.18583	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.2706	0.06880	0.3331:0.0:0.6669:0.0	.	.	.	.	X	160;84;160	.	ENSP00000445201:S160X	S	-	2	0	ZNF626	20600044	0.000000	0.05858	0.098000	0.21074	0.097000	0.18754	-0.258000	0.08733	0.284000	0.22305	0.289000	0.19496	TCA	ZNF626	-	NULL	ENSG00000188171		0.318	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	122	0.00	0	G	NM_145297		20808204	20808204	-1	no_errors	ENST00000305570	ensembl	human	known	69_37n	nonsense	196	37.58	118	SNP	0.118	C
ZNF586	54807	genome.wustl.edu	37	19	58290506	58290506	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:58290506G>C	ENST00000396154.2	+	3	724	c.551G>C	c.(550-552)gGg>gCg	p.G184A	ZNF586_ENST00000391702.3_Missense_Mutation_p.G141A|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.G142R|ZNF586_ENST00000598183.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	184					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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGAATGTGGGAAAGCCTTT	0.433																																						dbGAP											0													96.0	96.0	96.0					19																	58290506		2141	4273	6414	-	-	-	SO:0001583	missense	0			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.551G>C	19.37:g.58290506G>C	ENSP00000379458:p.Gly184Ala		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	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.G184A	ENST00000396154.2	37	c.551	CCDS42640.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.64|13.64	2.296415|2.296415	0.40594|0.40594	.|.	.|.	ENSG00000083828|ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154|ENST00000396150	T;T|T	0.41758|0.04603	0.99;0.99|3.59	1.56|1.56	1.56|1.56	0.23342|0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.21881|0.21881	0.0527|0.0527	M|M	0.89840|0.89840	3.065|3.065	0.33281|0.33281	D|D	0.562299|0.562299	D|D	0.89917|0.65815	1.0|0.995	D|D	0.72338|0.69479	0.977|0.964	T|T	0.31888|0.31888	-0.9927|-0.9927	9|9	0.87932|0.42905	D|T	0|0.14	.|.	10.0485|10.0485	0.42201|0.42201	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	184|142	Q9NXT0|A0JLV8	ZN586_HUMAN|.	A|R	184;141;184|142	ENSP00000375583:G141A;ENSP00000379458:G184A|ENSP00000379454:G142R	ENSP00000375583:G141A|ENSP00000379454:G142R	G|G	+|+	2|1	0|0	ZNF586|ZNF586	62982318|62982318	1.000000|1.000000	0.71417|0.71417	0.539000|0.539000	0.28077|0.28077	0.314000|0.314000	0.28054|0.28054	3.146000|3.146000	0.50631|0.50631	0.822000|0.822000	0.34565|0.34565	0.591000|0.591000	0.81541|0.81541	GGG|GGA	ZNF586	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083828		0.433	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	55	0.00	0	G	NM_017652		58290506	58290506	+1	no_errors	ENST00000396154	ensembl	human	known	69_37n	missense	109	38.46	70	SNP	1.000	C
ZNF695	57116	genome.wustl.edu	37	1	247150774	247150774	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr1:247150774C>G	ENST00000339986.7	-	4	1190	c.1043G>C	c.(1042-1044)gGa>gCa	p.G348A	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	348					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGTTTTCTCTCCAGTATGAAT	0.373																																						dbGAP											0													37.0	40.0	39.0					1																	247150774		2127	4267	6394	-	-	-	SO:0001583	missense	0				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1043G>C	1.37:g.247150774C>G	ENSP00000341236:p.Gly348Ala		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	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.G348A	ENST00000339986.7	37	c.1043	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052379	0.55218	.	.	ENSG00000197472	ENST00000339986	T	0.35236	1.32	0.642	0.642	0.17765	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46541	0.1398	L	0.46741	1.465	0.35088	D	0.764041	D	0.76494	0.999	D	0.77004	0.989	T	0.56655	-0.7943	9	0.72032	D	0.01	.	7.0678	0.25161	0.0:0.9999:0.0:1.0E-4	.	348	Q8IW36	ZN695_HUMAN	A	348	ENSP00000341236:G348A	ENSP00000341236:G348A	G	-	2	0	ZNF695	245217397	0.010000	0.17322	0.060000	0.19600	0.426000	0.31534	0.840000	0.27600	0.638000	0.30545	0.205000	0.17691	GGA	ZNF695	-	pfscan_Znf_C2H2	ENSG00000197472		0.373	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	56	0.00	0	C	NM_020394		247150774	247150774	-1	no_errors	ENST00000339986	ensembl	human	known	69_37n	missense	97	33.10	48	SNP	1.000	G
ZNF707	286075	genome.wustl.edu	37	8	144773808	144773808	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr8:144773808G>A	ENST00000532205.1	+	7	1080	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	ZNF707_ENST00000358656.4_Missense_Mutation_p.E61K|ZNF707_ENST00000442058.2_3'UTR|ZNF707_ENST00000532158.1_Missense_Mutation_p.E61K|ZNF707_ENST00000454097.1_Missense_Mutation_p.E61K|ZNF707_ENST00000418203.2_Missense_Mutation_p.E61K			Q96C28	ZN707_HUMAN	zinc finger protein 707	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCTCGCCTGGAACAGTGGGA	0.582																																						dbGAP											0													33.0	38.0	36.0					8																	144773808		1953	4135	6088	-	-	-	SO:0001583	missense	0			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.181G>A	8.37:g.144773808G>A	ENSP00000436212:p.Glu61Lys		A8K317|B3KNY1|D3DWK7	Nonsense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.W57*	ENST00000532205.1	37	c.171	CCDS47932.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.79|14.79	2.639164|2.639164	0.47153|0.47153	.|.	.|.	ENSG00000181135|ENSG00000181135	ENST00000454097;ENST00000534303;ENST00000529833;ENST00000358656;ENST00000532158;ENST00000526315;ENST00000532205;ENST00000418203|ENST00000530574	T;T;T;T;T;T;T;T|.	0.43688|.	5.38;5.38;5.38;5.38;5.38;0.94;5.38;5.38|.	3.17|3.17	2.27|2.27	0.28462|0.28462	Krueppel-associated box (3);|.	.|.	.|.	.|.	.|.	T|.	0.45236|.	0.1332|.	L|L	0.58969|0.58969	1.84|1.84	0.09310|0.09310	N|N	1|1	B|.	0.31351|.	0.32|.	B|.	0.32090|.	0.14|.	T|.	0.30995|.	-0.9959|.	9|.	0.44086|.	T|.	0.13|.	-15.8616|-15.8616	9.7579|9.7579	0.40515|0.40515	0.0:0.2139:0.7861:0.0|0.0:0.2139:0.7861:0.0	.|.	61|.	Q96C28|.	ZN707_HUMAN|.	K|X	61;61;61;61;61;25;61;61|57	ENSP00000409029:E61K;ENSP00000437134:E61K;ENSP00000434503:E61K;ENSP00000351482:E61K;ENSP00000436250:E61K;ENSP00000435906:E25K;ENSP00000436212:E61K;ENSP00000413215:E61K|.	ENSP00000351482:E61K|.	E|W	+|+	1|3	0|0	ZNF707|ZNF707	144845796|144845796	0.994000|0.994000	0.37717|0.37717	0.032000|0.032000	0.17829|0.17829	0.084000|0.084000	0.17831|0.17831	3.234000|3.234000	0.51320|0.51320	0.503000|0.503000	0.28060|0.28060	-0.300000|-0.300000	0.09419|0.09419	GAA|TGG	ZNF707	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000181135		0.582	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	HGNC	protein_coding	OTTHUMT00000382197.1	9	0.00	0	G	NM_173831		144773808	144773808	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000530574	ensembl	human	putative	69_37n	nonsense	15	53.12	17	SNP	0.010	A
ZNF737	100129842	genome.wustl.edu	37	19	20728347	20728347	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:20728347C>T	ENST00000427401.4	-	4	756	c.662G>A	c.(661-663)aGa>aAa	p.R221K		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	221					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGTATGAATTCTCTTATGTGT	0.403																																						dbGAP											0													24.0	24.0	24.0					19																	20728347		692	1591	2283	-	-	-	SO:0001583	missense	0			BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.662G>A	19.37:g.20728347C>T	ENSP00000395733:p.Arg221Lys		C9JHM3	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.R221K	ENST00000427401.4	37	c.662	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	-	9.304	1.053961	0.19907	.	.	ENSG00000237440	ENST00000427401	T	0.18338	2.22	0.792	-1.58	0.08479	.	.	.	.	.	T	0.12603	0.0306	L	0.41710	1.295	0.18873	N	0.999988	B	0.02656	0.0	B	0.18561	0.022	T	0.26538	-1.0100	9	0.32370	T	0.25	.	6.8317	0.23913	0.2777:0.7223:0.0:0.0	.	221	C9JHM3	.	K	221	ENSP00000395733:R221K	ENSP00000395733:R221K	R	-	2	0	ZNF737	20520187	0.000000	0.05858	0.119000	0.21687	0.119000	0.20118	-0.225000	0.09151	-2.186000	0.00760	-2.186000	0.00314	AGA	ZNF737	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000237440		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	25	0.00	0	C	NM_145289		20728347	20728347	-1	no_errors	ENST00000427401	ensembl	human	known	69_37n	missense	82	39.26	53	SNP	0.898	T
ZNF726	730087	genome.wustl.edu	37	19	24116208	24116208	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:24116208C>T	ENST00000594466.1	+	4	1395	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000575986.1_Intron|ZNF726_ENST00000322487.7_Silent_p.C430C|ZNF726_ENST00000334589.5_Intron	NM_001244038.1	NP_001230967.1	A6NNF4	ZN726_HUMAN	zinc finger protein 726	430					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)										GTGAAGAATGCGGCAAAGCGT	0.353																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000594466.1:c.1290C>T	19.37:g.24116208C>T			M0R0X8|Q86Y87	Silent	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.C430	ENST00000594466.1	37	c.1290	CCDS59372.1	19																																																																																			ZNF726	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213967		0.353	ZNF726-005	PUTATIVE	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF726	HGNC	protein_coding	OTTHUMT00000466443.1	17	0.00	0	C	XM_001715134		24116208	24116208	+1	no_errors	ENST00000322487	ensembl	human	known	69_37n	silent	94	32.37	45	SNP	0.998	T
ZNF777	27153	genome.wustl.edu	37	7	149129965	149129966	+	In_Frame_Ins	INS	-	-	TCC			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr7:149129965_149129966insTCC	ENST00000247930.4	-	6	1720_1721	c.1397_1398insGGA	c.(1396-1398)gat>gaGGAt	p.465_466insE		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	465	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCGGCAGctcatcctcctcctc	0.604																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1395_1397dupGGA	7.37:g.149129972_149129974dupTCC	ENSP00000247930:p.Glu466_Glu467dup		Q8N2R2|Q8N659	In_Frame_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.466in_frame_insE	ENST00000247930.4	37	c.1398_1397	CCDS43675.1	7																																																																																			ZNF777	-	NULL	ENSG00000196453		0.604	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	HGNC	protein_coding	OTTHUMT00000352708.1	12	0.00	0	-	NM_015694		149129965	149129966	-1	no_errors	ENST00000247930	ensembl	human	known	69_37n	in_frame_ins	12	29.41	5	INS	0.025:0.090	TCC
ZNF83	55769	genome.wustl.edu	37	19	53117613	53117613	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:53117613G>C	ENST00000597597.1	-	2	2458	c.205C>G	c.(205-207)Cat>Gat	p.H69D	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.H69D|ZNF83_ENST00000536937.1_Missense_Mutation_p.H69D|ZNF83_ENST00000541777.2_Missense_Mutation_p.H69D|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000544146.1_Missense_Mutation_p.H69D|ZNF83_ENST00000391789.4_Missense_Mutation_p.H69D|ZNF83_ENST00000301096.3_Missense_Mutation_p.H69D			P51522	ZNF83_HUMAN	zinc finger protein 83	69					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCATATGTATGAGAAATGTGG	0.353																																						dbGAP											0													74.0	76.0	75.0					19																	53117613		2203	4300	6503	-	-	-	SO:0001583	missense	0			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.205C>G	19.37:g.53117613G>C	ENSP00000472619:p.His69Asp		A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H69D	ENST00000597597.1	37	c.205	CCDS12854.1	19	.	.	.	.	.	.	.	.	.	.	N	5.782	0.328627	0.10956	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.08193	3.13;3.13;3.13;3.13;3.13;3.12	1.87	-2.66	0.06077	.	.	.	.	.	T	0.03178	0.0093	N	0.13168	0.305	0.09310	N	1	B;P	0.34699	0.002;0.464	B;B	0.20955	0.002;0.032	T	0.42749	-0.9433	9	0.27082	T	0.32	.	5.0733	0.14618	0.0:0.2951:0.4433:0.2616	.	69;69	P51522-2;P51522	.;ZNF83_HUMAN	D	69	ENSP00000445993:H69D;ENSP00000301096:H69D;ENSP00000445470:H69D;ENSP00000440713:H69D;ENSP00000439681:H69D;ENSP00000375666:H69D	ENSP00000301096:H69D	H	-	1	0	ZNF83	57809425	0.000000	0.05858	0.009000	0.14445	0.052000	0.14988	-1.583000	0.02115	-0.654000	0.05394	0.591000	0.81541	CAT	ZNF83	-	NULL	ENSG00000167766		0.353	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1	81	0.00	0	G	NM_018300		53117613	53117613	-1	no_errors	ENST00000301096	ensembl	human	known	69_37n	missense	58	34.09	30	SNP	0.001	C
ZNF845	91664	genome.wustl.edu	37	19	53855843	53855843	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr19:53855843G>C	ENST00000595091.1	+	5	2134	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	ZNF845_ENST00000458035.1_Missense_Mutation_p.E639Q			Q96IR2	ZN845_HUMAN	zinc finger protein 845	639					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(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CAAATGTGAAGAATGTGATGA	0.378																																						dbGAP											0													19.0	17.0	18.0					19																	53855843		692	1590	2282	-	-	-	SO:0001583	missense	0			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1915G>C	19.37:g.53855843G>C	ENSP00000470005:p.Glu639Gln			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.E639Q	ENST00000595091.1	37	c.1915	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	G	3.356	-0.131422	0.06753	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07444	3.19	1.98	-1.12	0.09808	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	L	0.41027	1.25	0.09310	N	1	B	0.22276	0.067	B	0.18263	0.021	T	0.42015	-0.9476	9	0.30078	T	0.28	.	1.85	0.03167	0.1397:0.1957:0.4663:0.1982	.	639	Q96IR2	ZN845_HUMAN	Q	639	ENSP00000388311:E639Q	ENSP00000412086:E639Q	E	+	1	0	ZNF845	58547655	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.066000	0.01385	0.141000	0.18875	0.306000	0.20318	GAA	ZNF845	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213799		0.378	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	25	0.00	0	G	XM_039908		53855843	53855843	+1	no_errors	ENST00000458035	ensembl	human	known	69_37n	missense	120	32.20	57	SNP	0.000	C
ZNRF3	84133	genome.wustl.edu	37	22	29442769	29442769	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:29442769G>C	ENST00000544604.2	+	6	985	c.810G>C	c.(808-810)aaG>aaC	p.K270N	ZNRF3_ENST00000402174.1_Missense_Mutation_p.K170N|ZNRF3_ENST00000332811.4_Missense_Mutation_p.K170N|ZNRF3_ENST00000406323.3_Missense_Mutation_p.K170N	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	270					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TCAACTCCAAGAGCAAGGGGC	0.567																																						dbGAP											0													94.0	107.0	103.0					22																	29442769		1938	4122	6060	-	-	-	SO:0001583	missense	0			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.810G>C	22.37:g.29442769G>C	ENSP00000443824:p.Lys270Asn		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K270N	ENST00000544604.2	37	c.810	CCDS56225.1	22	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874194	0.72180	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	T;T;T;T	0.10099	3.04;2.91;2.91;2.91	5.82	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.10551	0.0258	N	0.19112	0.55	0.49213	D	0.999766	P	0.51653	0.947	P	0.49752	0.621	T	0.04427	-1.0952	10	0.38643	T	0.18	-3.7509	10.2441	0.43330	0.1391:0.0:0.8609:0.0	.	270	Q9ULT6	ZNRF3_HUMAN	N	270;170;170;170	ENSP00000443824:K270N;ENSP00000328614:K170N;ENSP00000384456:K170N;ENSP00000384553:K170N	ENSP00000328614:K170N	K	+	3	2	ZNRF3	27772769	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.353000	0.34045	2.747000	0.94245	0.655000	0.94253	AAG	ZNRF3	-	NULL	ENSG00000183579		0.567	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF3	HGNC	protein_coding	OTTHUMT00000320943.2	24	0.00	0	G	XM_290972		29442769	29442769	+1	no_errors	ENST00000544604	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	C
ZNRF3	84133	genome.wustl.edu	37	22	29445639	29445639	+	Silent	SNP	C	C	G			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr22:29445639C>G	ENST00000544604.2	+	8	1645	c.1470C>G	c.(1468-1470)ctC>ctG	p.L490L	ZNRF3_ENST00000402174.1_Silent_p.L390L|ZNRF3_ENST00000332811.4_Silent_p.L390L|ZNRF3_ENST00000406323.3_Silent_p.L390L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	490					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L390L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CACCTAGCCTCGCACCCCGGG	0.682																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											23.0	27.0	25.0					22																	29445639		2081	4180	6261	-	-	-	SO:0001819	synonymous_variant	0			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1470C>G	22.37:g.29445639C>G			B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L490	ENST00000544604.2	37	c.1470	CCDS56225.1	22																																																																																			ZNRF3	-	NULL	ENSG00000183579		0.682	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF3	HGNC	protein_coding	OTTHUMT00000320943.2	11	0.00	0	C	XM_290972		29445639	29445639	+1	no_errors	ENST00000544604	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	0.002	G
ZSWIM2	151112	genome.wustl.edu	37	2	187703766	187703766	+	Silent	SNP	C	C	T			TCGA-D8-A1JA-01A-11D-A13L-09	TCGA-D8-A1JA-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f	a20d8bfb-53ad-4a4e-bbc5-4f204a08b812	g.chr2:187703766C>T	ENST00000295131.2	-	4	453	c.414G>A	c.(412-414)caG>caA	p.Q138Q		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	138					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CAATTTCCTTCTGTTTAATGT	0.388																																						dbGAP											0													237.0	234.0	235.0					2																	187703766		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.414G>A	2.37:g.187703766C>T			B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.Q138	ENST00000295131.2	37	c.414	CCDS33348.1	2																																																																																			ZSWIM2	-	NULL	ENSG00000163012		0.388	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	60	0.00	0	C	NM_182521		187703766	187703766	-1	no_errors	ENST00000295131	ensembl	human	known	69_37n	silent	87	42.38	64	SNP	1.000	T
