#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
ABCA13	154664	genome.wustl.edu	37	7	48311649	48311649	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:48311649T>G	ENST00000435803.1	+	17	2410	c.2386T>G	c.(2386-2388)Ttt>Gtt	p.F796V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	796					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						ACTCTTGGAATTTGGCAACGA	0.358																																						dbGAP											0													42.0	41.0	41.0					7																	48311649		1833	4094	5927	-	-	-	SO:0001583	missense	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.2386T>G	7.37:g.48311649T>G	ENSP00000411096:p.Phe796Val		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F796V	ENST00000435803.1	37	c.2386	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	6.192	0.403598	0.11754	.	.	ENSG00000179869	ENST00000435803	D	0.86097	-2.07	5.81	-4.93	0.03066	.	1.286770	0.05304	N	0.523527	T	0.73992	0.3658	L	0.42245	1.32	0.21416	N	0.999691	B	0.13145	0.007	B	0.08055	0.003	T	0.54622	-0.8266	10	0.34782	T	0.22	.	1.4329	0.02337	0.2163:0.3395:0.2222:0.222	.	796	Q86UQ4	ABCAD_HUMAN	V	796	ENSP00000411096:F796V	ENSP00000411096:F796V	F	+	1	0	ABCA13	48282195	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	-0.623000	0.05546	-0.723000	0.04915	-1.183000	0.01708	TTT	ABCA13	-	NULL	ENSG00000179869		0.358	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	123	0.00	0	T	NM_152701		48311649	48311649	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	0.003	G
ABCA3	21	genome.wustl.edu	37	16	2347904	2347904	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:2347904G>C	ENST00000301732.5	-	16	2615	c.1915C>G	c.(1915-1917)Cag>Gag	p.Q639E	ABCA3_ENST00000382381.3_Missense_Mutation_p.Q581E	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	639	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.Q639*(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGGCACTTCTGACGTGACAGG	0.632																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											98.0	92.0	94.0					16																	2347904		2198	4300	6498	-	-	-	SO:0001583	missense	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1915C>G	16.37:g.2347904G>C	ENSP00000301732:p.Gln639Glu		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Q639E	ENST00000301732.5	37	c.1915	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	G	6.216	0.407934	0.11754	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.92858	-3.12	6.08	1.63	0.23807	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.098330	0.06600	N	0.753568	T	0.78489	0.4291	N	0.04320	-0.23	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.15484	0.004;0.013;0.004	T	0.66476	-0.5914	10	0.12430	T	0.62	.	2.5423	0.04729	0.1177:0.1395:0.3122:0.4305	.	639;643;639	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	E	639;643	ENSP00000301732:Q639E	ENSP00000301732:Q639E	Q	-	1	0	ABCA3	2287905	0.000000	0.05858	0.009000	0.14445	0.002000	0.02628	0.902000	0.28459	0.427000	0.26145	-0.181000	0.13052	CAG	ABCA3	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000167972		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	61	0.00	0	G	NM_001089		2347904	2347904	-1	no_errors	ENST00000301732	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.000	C
ABHD8	79575	genome.wustl.edu	37	19	17411904	17411904	+	Silent	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:17411904G>T	ENST00000247706.3	-	2	761	c.522C>A	c.(520-522)gcC>gcA	p.A174A	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	174							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCACCACGTCGGCCTGGGCGC	0.622																																					Ovarian(156;1368 2543 15275 41187)	dbGAP											0													81.0	88.0	86.0					19																	17411904		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	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.522C>A	19.37:g.17411904G>T			Q9HAE9	Silent	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.A174	ENST00000247706.3	37	c.522	CCDS12355.1	19																																																																																			ABHD8	-	NULL	ENSG00000127220		0.622	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	22	0.00	0	G	NM_024527		17411904	17411904	-1	no_errors	ENST00000247706	ensembl	human	known	69_37n	silent	3	62.50	5	SNP	0.224	T
AOC1	26	genome.wustl.edu	37	7	150553777	150553777	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:150553777G>A	ENST00000493429.1	+	4	803	c.219G>A	c.(217-219)gaG>gaA	p.E73E	AOC1_ENST00000416793.2_Silent_p.E73E|AOC1_ENST00000360937.4_Silent_p.E73E|AOC1_ENST00000467291.1_Silent_p.E73E			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	73					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TTCTCATCGAGATGCTGCTGC	0.557																																						dbGAP											0													158.0	159.0	159.0					7																	150553777		2095	4234	6329	-	-	-	SO:0001819	synonymous_variant	0			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.219G>A	7.37:g.150553777G>A			C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E73	ENST00000493429.1	37	c.219	CCDS43679.1	7																																																																																			ABP1	-	pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	ENSG00000002726		0.557	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABP1	HGNC	protein_coding	OTTHUMT00000350628.1	154	0.00	0	G	NM_001091		150553777	150553777	+1	no_errors	ENST00000416793	ensembl	human	known	69_37n	silent	169	13.33	26	SNP	1.000	A
ACO1	48	genome.wustl.edu	37	9	32440470	32440470	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:32440470T>A	ENST00000309951.6	+	19	2393	c.2255T>A	c.(2254-2256)gTg>gAg	p.V752E	ACO1_ENST00000379923.1_Missense_Mutation_p.V752E|ACO1_ENST00000541043.1_Missense_Mutation_p.V653E	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	752					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CAGCTTGATGTGTTTGATGCT	0.577																																						dbGAP											0													81.0	77.0	78.0					9																	32440470		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2255T>A	9.37:g.32440470T>A	ENSP00000309477:p.Val752Glu		D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.V752E	ENST00000309951.6	37	c.2255	CCDS6525.1	9	.	.	.	.	.	.	.	.	.	.	T	27.4	4.826334	0.90955	.	.	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.46063	0.88;0.88;1.89	5.84	5.84	0.93424	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.060397	0.64402	D	0.000003	T	0.74199	0.3685	H	0.94542	3.55	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.82139	-0.0605	10	0.87932	D	0	-23.2663	15.1985	0.73116	0.0:0.0:0.0:1.0	.	752	P21399	ACOC_HUMAN	E	752;752;653	ENSP00000309477:V752E;ENSP00000369255:V752E;ENSP00000438733:V653E	ENSP00000309477:V752E	V	+	2	0	ACO1	32430470	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.950000	0.87804	2.243000	0.73865	0.533000	0.62120	GTG	ACO1	-	pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000122729		0.577	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	HGNC	protein_coding	OTTHUMT00000051998.3	77	0.00	0	T	NM_002197		32440470	32440470	+1	no_errors	ENST00000309951	ensembl	human	known	69_37n	missense	70	24.73	23	SNP	1.000	A
ACPT	93650	genome.wustl.edu	37	19	51297015	51297015	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:51297015G>C	ENST00000270593.1	+	7	720	c.720G>C	c.(718-720)ttG>ttC	p.L240F	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Missense_Mutation_p.L147F	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	240						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCTCGGCTTTGGATATTGGAG	0.652																																						dbGAP											0													41.0	42.0	42.0					19																	51297015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.720G>C	19.37:g.51297015G>C	ENSP00000270593:p.Leu240Phe		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.L240F	ENST00000270593.1	37	c.720	CCDS12802.1	19	.	.	.	.	.	.	.	.	.	.	g	9.510	1.105509	0.20632	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.44881	0.91;0.91	4.63	3.58	0.41010	.	0.080135	0.49916	D	0.000132	T	0.16557	0.0398	N	0.05078	-0.115	0.36080	D	0.842721	B	0.25007	0.116	B	0.22601	0.04	T	0.17531	-1.0366	10	0.11794	T	0.64	-14.1238	5.344	0.15998	0.1042:0.0:0.6927:0.203	.	240	Q9BZG2	PPAT_HUMAN	F	240;147	ENSP00000270593:L240F;ENSP00000270594:L147F	ENSP00000270593:L240F	L	+	3	2	ACPT	55988827	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	2.301000	0.43628	2.300000	0.77407	0.561000	0.74099	TTG	ACPT	-	pfam_His_Pase_superF_clade-2	ENSG00000142513		0.652	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	63	0.00	0	G	NM_033068		51297015	51297015	+1	no_errors	ENST00000270593	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.998	C
ACSM1	116285	genome.wustl.edu	37	16	20648499	20648499	+	Intron	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:20648499G>C	ENST00000307493.4	-	8	1265				ACSM1_ENST00000520010.1_Intron|ACSM1_ENST00000219151.4_Missense_Mutation_p.P38R	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTGGCTGCCAGGGTCAGCGGT	0.478																																						dbGAP											0													178.0	166.0	170.0					16																	20648499		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1197+193C>G	16.37:g.20648499G>C			Q08AH2|Q96A20	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.P38R	ENST00000307493.4	37	c.113	CCDS10587.1	16	.	.	.	.	.	.	.	.	.	.	g	8.171	0.791729	0.16258	.	.	ENSG00000166743	ENST00000219151	T	0.52295	0.67	2.99	-5.98	0.02220	.	.	.	.	.	T	0.32882	0.0844	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37888	-0.9686	6	0.87932	D	0	.	0.3944	0.00415	0.345:0.2213:0.2419:0.1918	.	.	.	.	R	38	ENSP00000219151:P38R	ENSP00000219151:P38R	P	-	2	0	ACSM1	20556000	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.642000	0.05427	-2.086000	0.00863	-0.300000	0.09419	CCT	ACSM1	-	NULL	ENSG00000166743		0.478	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM1	HGNC	protein_coding	OTTHUMT00000254412.1	18	0.00	0	G	NM_052956		20648499	20648499	-1	no_errors	ENST00000219151	ensembl	human	known	69_37n	missense	37	39.34	24	SNP	0.000	C
ADAMTS20	80070	genome.wustl.edu	37	12	43945717	43945717	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:43945717A>G	ENST00000389420.3	-	1	7	c.8T>C	c.(7-9)gTg>gCg	p.V3A	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.V3A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	3					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCACTTGGCCACCCACATGGT	0.642																																						dbGAP											0													83.0	72.0	75.0					12																	43945717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.8T>C	12.37:g.43945717A>G	ENSP00000374071:p.Val3Ala		A6NNC9|J3QT00	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.V3A	ENST00000389420.3	37	c.8	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	A	14.02	2.410832	0.42817	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.62788	0.2;-0.0	2.65	2.65	0.31530	.	.	.	.	.	T	0.43700	0.1259	L	0.29908	0.895	0.80722	D	1	P	0.35844	0.524	B	0.28849	0.095	T	0.45600	-0.9250	9	0.66056	D	0.02	.	7.5125	0.27581	0.7829:0.2171:0.0:0.0	.	3	P59510	ATS20_HUMAN	A	3	ENSP00000374071:V3A;ENSP00000448341:V3A	ENSP00000374068:V3A	V	-	2	0	ADAMTS20	42231984	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	1.139000	0.31504	1.175000	0.42826	0.383000	0.25322	GTG	ADAMTS20	-	NULL	ENSG00000173157		0.642	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	38	0.00	0	A	NM_025003		43945717	43945717	-1	no_errors	ENST00000389420	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	1.000	G
ADAR	103	genome.wustl.edu	37	1	154574808	154574808	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:154574808G>A	ENST00000368474.4	-	2	509	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.L147F|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	104					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCTCTCTGGAGCCCCTGACTT	0.562																																						dbGAP											0													68.0	70.0	69.0					1																	154574808		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.310C>T	1.37:g.154574808G>A	ENSP00000357459:p.Leu104Phe		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.L147F	ENST00000368474.4	37	c.439	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	G	5.893	0.348875	0.11126	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.12147	2.71;2.72;2.73	4.56	-0.685	0.11328	.	2.544560	0.00918	N	0.002542	T	0.03651	0.0104	L	0.38175	1.15	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.38067	-0.9678	10	0.31617	T	0.26	-0.5431	7.5129	0.27583	0.4986:0.0:0.5014:0.0	.	104;104;104	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	F	147;104;99	ENSP00000292205:L147F;ENSP00000357459:L104F;ENSP00000431794:L99F	ENSP00000292205:L147F	L	-	1	0	ADAR	152841432	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.182000	0.16900	-0.218000	0.10018	-0.291000	0.09656	CTC	ADAR	-	NULL	ENSG00000160710		0.562	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	164	0.00	0	G	NM_001111		154574808	154574808	-1	no_errors	ENST00000292205	ensembl	human	known	69_37n	missense	269	16.00	52	SNP	0.000	A
ADCY9	115	genome.wustl.edu	37	16	4164945	4164945	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:4164945G>A	ENST00000294016.3	-	2	1037	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	167					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGGCGTACAGCTTGGTGAAG	0.602																																						dbGAP											0													85.0	82.0	83.0					16																	4164945		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.499C>T	16.37:g.4164945G>A			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L167	ENST00000294016.3	37	c.499	CCDS32382.1	16																																																																																			ADCY9	-	NULL	ENSG00000162104		0.602	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	77	0.00	0	G			4164945	4164945	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	silent	20	25.93	7	SNP	0.874	A
ADH5	128	genome.wustl.edu	37	4	99997652	99997652	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:99997652C>G	ENST00000296412.8	-	6	666	c.616G>C	c.(616-618)Gca>Cca	p.A206P	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		ATGATAACTGCCAATCCGACT	0.463																																						dbGAP											0													49.0	49.0	49.0					4																	99997652		1927	4153	6080	-	-	-	SO:0001583	missense	0			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.616G>C	4.37:g.99997652C>G	ENSP00000296412:p.Ala206Pro			Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3	p.A206P	ENST00000296412.8	37	c.616	CCDS47111.1	4	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603416	0.66445	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.05258	3.47;3.47	4.96	4.11	0.48088	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.68352	-0.5431	9	.	.	.	.	15.2074	0.73190	0.1416:0.8584:0.0:0.0	.	206;206;206	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	P	206;193	ENSP00000296412:A206P;ENSP00000427049:A193P	.	A	-	1	0	ADH5	100216675	1.000000	0.71417	0.932000	0.37286	0.972000	0.66771	3.975000	0.56859	1.454000	0.47793	0.555000	0.69702	GCA	ADH5	-	pfam_ADH_C,tigrfam_ADH_3	ENSG00000197894		0.463	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH5	HGNC	protein_coding	OTTHUMT00000364224.1	253	0.00	0	C	NM_000671		99997652	99997652	-1	no_errors	ENST00000296412	ensembl	human	known	69_37n	missense	75	17.58	16	SNP	1.000	G
ADH5	128	genome.wustl.edu	37	4	99997655	99997655	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:99997655A>T	ENST00000296412.8	-	6	663	c.613T>A	c.(613-615)Ttg>Atg	p.L205M	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		ATAACTGCCAATCCGACTCCT	0.458																																						dbGAP											0													49.0	48.0	48.0					4																	99997655		1919	4155	6074	-	-	-	SO:0001583	missense	0			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.613T>A	4.37:g.99997655A>T	ENSP00000296412:p.Leu205Met			Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3	p.L205M	ENST00000296412.8	37	c.613	CCDS47111.1	4	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948711	0.73787	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.06068	3.35;3.35	4.96	-4.3	0.03710	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.22244	0.0536	M	0.87456	2.885	0.80722	D	1	P;P;P	0.49559	0.925;0.925;0.925	P;P;P	0.61592	0.891;0.891;0.891	T	0.09100	-1.0690	9	.	.	.	.	16.2845	0.82712	0.2781:0.0:0.7219:0.0	.	205;205;205	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	M	205;192	ENSP00000296412:L205M;ENSP00000427049:L192M	.	L	-	1	2	ADH5	100216678	0.995000	0.38212	0.781000	0.31783	0.965000	0.64279	0.518000	0.22847	-0.825000	0.04290	-0.451000	0.05528	TTG	ADH5	-	pfam_ADH_C,tigrfam_ADH_3	ENSG00000197894		0.458	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH5	HGNC	protein_coding	OTTHUMT00000364224.1	257	0.00	0	A	NM_000671		99997655	99997655	-1	no_errors	ENST00000296412	ensembl	human	known	69_37n	missense	73	17.98	16	SNP	0.921	T
ADPRH	141	genome.wustl.edu	37	3	119306587	119306587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:119306587C>A	ENST00000478399.1	+	4	2341	c.936C>A	c.(934-936)tgC>tgA	p.C312*	ADPRH_ENST00000357003.3_Nonsense_Mutation_p.C312*|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Nonsense_Mutation_p.C312*|ADPRH_ENST00000465513.1_Nonsense_Mutation_p.C312*			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	312					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		TTGCTGGCTGCTGGTGGGGAG	0.493																																					GBM(133;579 1804 5989 9967 40052)	dbGAP											0													72.0	73.0	73.0					3																	119306587		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.936C>A	3.37:g.119306587C>A	ENSP00000420200:p.Cys312*		B2R8H1|D3DN83	Nonsense_Mutation	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.C312*	ENST00000478399.1	37	c.936	CCDS2990.1	3	.	.	.	.	.	.	.	.	.	.	C	49	14.985725	0.99818	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	.	.	.	6.16	3.45	0.39498	.	0.042625	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-23.3538	8.2319	0.31603	0.0:0.7281:0.1299:0.142	.	.	.	.	X	312	.	ENSP00000349496:C312X	C	+	3	2	ADPRH	120789277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.256000	0.51492	0.497000	0.27926	0.650000	0.86243	TGC	ADPRH	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	ENSG00000144843		0.493	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRH	HGNC	protein_coding	OTTHUMT00000355199.1	161	0.00	0	C	NM_001125		119306587	119306587	+1	no_errors	ENST00000357003	ensembl	human	known	69_37n	nonsense	62	36.08	35	SNP	1.000	A
ADRBK1	156	genome.wustl.edu	37	11	67052502	67052502	+	Intron	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:67052502G>C	ENST00000308595.5	+	20	2081				ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1						activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGGGTGGCTGGCCGGCCCGGC	0.697																																						dbGAP											0													39.0	46.0	44.0					11																	67052502		2198	4292	6490	-	-	-	SO:0001627	intron_variant	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1792-44G>C	11.37:g.67052502G>C			B0ZBE1|Q13837|Q6GTT3	RNA	SNP	-	NULL	ENST00000308595.5	37	NULL	CCDS8156.1	11																																																																																			ADRBK1	-	-	ENSG00000173020		0.697	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	43	0.00	0	G	NM_001619		67052502	67052502	+1	no_errors	ENST00000527176	ensembl	human	known	69_37n	rna	3	82.35	14	SNP	0.000	C
ADRM1	11047	genome.wustl.edu	37	20	60881358	60881358	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr20:60881358G>C	ENST00000253003.2	+	4	482	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR|LAMA5_ENST00000492698.1_5'Flank	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	146	Gly-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CAGCGGCCACGAACTCTCTGC	0.607																																						dbGAP											0													118.0	110.0	112.0					20																	60881358		2203	4300	6503	-	-	-	SO:0001583	missense	0			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.436G>C	20.37:g.60881358G>C	ENSP00000253003:p.Glu146Gln		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	pfam_26S_Psome_Ubiquitin-recp_Rpn13	p.E146Q	ENST00000253003.2	37	c.436	CCDS13496.1	20	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413524	0.42817	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	5.01	5.01	0.66863	.	0.052964	0.85682	D	0.000000	T	0.78916	0.4359	M	0.73962	2.25	0.80722	D	1	P;D	0.58268	0.508;0.982	B;D	0.70227	0.174;0.968	T	0.80079	-0.1532	9	0.49607	T	0.09	-32.1576	17.9287	0.88991	0.0:0.0:1.0:0.0	.	146;146	B4DMP7;Q16186	.;ADRM1_HUMAN	Q	146	.	ENSP00000253003:E146Q	E	+	1	0	ADRM1	60314753	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	9.317000	0.96327	2.334000	0.79466	0.561000	0.74099	GAA	ADRM1	-	pfam_26S_Psome_Ubiquitin-recp_Rpn13	ENSG00000130706		0.607	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRM1	HGNC	protein_coding	OTTHUMT00000080007.1	84	0.00	0	G			60881358	60881358	+1	no_errors	ENST00000253003	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	C
AHNAK2	113146	genome.wustl.edu	37	14	105409543	105409543	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:105409543C>T	ENST00000333244.5	-	7	12364	c.12245G>A	c.(12244-12246)gGc>gAc	p.G4082D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4082						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)			CGCCTTGGGGCCTTTCAGGTC	0.597																																						dbGAP											0													152.0	157.0	155.0					14																	105409543		1865	4096	5961	-	-	-	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.12245G>A	14.37:g.105409543C>T	ENSP00000353114:p.Gly4082Asp		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G4082D	ENST00000333244.5	37	c.12245	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	13.63	2.295043	0.40594	.	.	ENSG00000185567	ENST00000333244	T	0.03242	4.0	4.13	-0.194	0.13240	.	0.987542	0.08182	U	0.985309	T	0.15609	0.0376	M	0.92555	3.32	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43180	-0.9407	10	0.10377	T	0.69	.	1.118	0.01718	0.1504:0.3711:0.1477:0.3309	.	4082	Q8IVF2	AHNK2_HUMAN	D	4082	ENSP00000353114:G4082D	ENSP00000353114:G4082D	G	-	2	0	AHNAK2	104480588	0.000000	0.05858	0.002000	0.10522	0.067000	0.16453	-0.670000	0.05256	0.050000	0.15949	0.485000	0.47835	GGC	AHNAK2	-	NULL	ENSG00000185567		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	333	0.00	0	C	NM_138420		105409543	105409543	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	72	12.05	10	SNP	0.000	T
AHNAK2	113146	genome.wustl.edu	37	14	105410061	105410061	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:105410061C>T	ENST00000333244.5	-	7	11846	c.11727G>A	c.(11725-11727)aaG>aaA	p.K3909K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3909						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)			GCTTGGGGCCCTTGATGTCTA	0.597																																						dbGAP											0													147.0	153.0	151.0					14																	105410061		1875	4112	5987	-	-	-	SO:0001819	synonymous_variant	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.11727G>A	14.37:g.105410061C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K3909	ENST00000333244.5	37	c.11727	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	403	0.00	0	C	NM_138420		105410061	105410061	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	silent	136	22.29	39	SNP	0.000	T
AHNAK2	113146	genome.wustl.edu	37	14	105410064	105410064	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:105410064G>C	ENST00000333244.5	-	7	11843	c.11724C>G	c.(11722-11724)atC>atG	p.I3908M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3908						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)			TGGGGCCCTTGATGTCTATTT	0.597																																						dbGAP											0													148.0	154.0	152.0					14																	105410064		1872	4115	5987	-	-	-	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.11724C>G	14.37:g.105410064G>C	ENSP00000353114:p.Ile3908Met		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.I3908M	ENST00000333244.5	37	c.11724	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	2.429	-0.331280	0.05314	.	.	ENSG00000185567	ENST00000333244	T	0.01185	5.21	4.18	2.18	0.27775	.	1.131400	0.07135	U	0.846254	T	0.03695	0.0105	L	0.60012	1.86	0.09310	N	1	D	0.55800	0.973	P	0.55871	0.786	T	0.49254	-0.8959	10	0.37606	T	0.19	.	8.9384	0.35713	0.0:0.1427:0.6035:0.2538	.	3908	Q8IVF2	AHNK2_HUMAN	M	3908	ENSP00000353114:I3908M	ENSP00000353114:I3908M	I	-	3	3	AHNAK2	104481109	0.011000	0.17503	0.001000	0.08648	0.070000	0.16714	0.327000	0.19663	0.151000	0.19162	0.313000	0.20887	ATC	AHNAK2	-	NULL	ENSG00000185567		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	391	0.00	0	G	NM_138420		105410064	105410064	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	127	19.76	33	SNP	0.003	C
AHNAK2	113146	genome.wustl.edu	37	14	105410066	105410066	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:105410066T>G	ENST00000333244.5	-	7	11841	c.11722A>C	c.(11722-11724)Atc>Ctc	p.I3908L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3908						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)			GGGCCCTTGATGTCTATTTCA	0.602																																						dbGAP											0													149.0	154.0	152.0					14																	105410066		1874	4115	5989	-	-	-	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.11722A>C	14.37:g.105410066T>G	ENSP00000353114:p.Ile3908Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.I3908L	ENST00000333244.5	37	c.11722	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	3.068	-0.191661	0.06299	.	.	ENSG00000185567	ENST00000333244	T	0.01092	5.35	3.66	-0.889	0.10580	.	1.131400	0.07135	U	0.846254	T	0.00724	0.0024	N	0.11106	0.095	0.09310	N	1	B	0.22851	0.076	B	0.22753	0.041	T	0.47724	-0.9095	10	0.12103	T	0.63	.	4.3912	0.11341	0.0:0.1944:0.1776:0.628	.	3908	Q8IVF2	AHNK2_HUMAN	L	3908	ENSP00000353114:I3908L	ENSP00000353114:I3908L	I	-	1	0	AHNAK2	104481111	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-0.553000	0.06012	-0.362000	0.08113	0.260000	0.18958	ATC	AHNAK2	-	NULL	ENSG00000185567		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	391	0.00	0	T	NM_138420		105410066	105410066	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	125	19.51	32	SNP	0.043	G
AHNAK2	113146	genome.wustl.edu	37	14	105410167	105410168	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:105410167_105410168insGG	ENST00000333244.5	-	7	11739_11740	c.11620_11621insCC	c.(11620-11622)ggcfs	p.G3874fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3874						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)			GGGCACGTGGCCCTCCAGGAGT	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.11620_11621insCC	14.37:g.105410167_105410168insGG	ENSP00000353114:p.Gly3874fs		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Ins	INS	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G3874fs	ENST00000333244.5	37	c.11621_11620	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.599	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	260	0.00	0	-	NM_138420		105410167	105410168	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	frame_shift_ins	40	29.82	17	INS	0.000:0.002	GG
AK2	204	genome.wustl.edu	37	1	33490155	33490155	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:33490155G>C	ENST00000487289.1	-	2	122	c.107C>G	c.(106-108)gCt>gGt	p.A36G	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Intron|AK2_ENST00000480134.1_Missense_Mutation_p.A36G|AK2_ENST00000467905.1_Missense_Mutation_p.A36G|AK2_ENST00000354858.6_Missense_Mutation_p.A36G|AK2_ENST00000373449.2_Missense_Mutation_p.A36G					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GAAGTTTTCAGCCAATCTGGG	0.498																																						dbGAP											0													56.0	53.0	54.0					1																	33490155		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.107C>G	1.37:g.33490155G>C	ENSP00000446849:p.Ala36Gly			Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.A36G	ENST00000487289.1	37	c.107		1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010784	0.75046	.	.	ENSG00000004455	ENST00000373449;ENST00000467905;ENST00000480134;ENST00000354858;ENST00000398192;ENST00000487289	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.90143	0.6920	M	0.81112	2.525	0.80722	D	1	P;P;P	0.38800	0.596;0.648;0.596	P;P;P	0.52189	0.565;0.692;0.565	D	0.90184	0.4245	10	0.59425	D	0.04	-18.1476	19.5143	0.95157	0.0:0.0:1.0:0.0	.	36;36;36	P54819-5;P54819;P54819-2	.;KAD2_HUMAN;.	G	36	ENSP00000362548:A36G;ENSP00000447082:A36G;ENSP00000450109:A36G;ENSP00000346921:A36G;ENSP00000446849:A36G	ENSP00000346921:A36G	A	-	2	0	AK2	33262742	1.000000	0.71417	0.984000	0.44739	0.595000	0.36748	7.237000	0.78164	2.780000	0.95670	0.655000	0.94253	GCT	AK2	-	pfam_Adenylate_kin,tigrfam_Adenyl_kin_sub	ENSG00000004455		0.498	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	AK2	HGNC	protein_coding	OTTHUMT00000011889.4	102	0.00	0	G	NM_001625		33490155	33490155	-1	no_errors	ENST00000354858	ensembl	human	known	69_37n	missense	28	77.24	95	SNP	1.000	C
AKR1C4	1109	genome.wustl.edu	37	10	5248263	5248263	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:5248263G>C	ENST00000380448.1	+	7	726	c.473G>C	c.(472-474)gGa>gCa	p.G158A	AKR1C4_ENST00000263126.1_Missense_Mutation_p.G158A			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	158					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						AAGGATGCAGGATTGGCCAAG	0.488																																						dbGAP											0													156.0	137.0	144.0					10																	5248263		2203	4300	6503	-	-	-	SO:0001583	missense	0			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.473G>C	10.37:g.5248263G>C	ENSP00000369814:p.Gly158Ala		Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.G158A	ENST00000380448.1	37	c.473	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348589	0.41599	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	D;D	0.87809	-2.3;-2.3	3.16	3.16	0.36331	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.000000	0.64402	D	0.000007	D	0.95809	0.8636	H	0.98951	4.38	0.48040	D	0.999575	D	0.76494	0.999	D	0.79108	0.992	D	0.96466	0.9345	10	0.87932	D	0	.	12.072	0.53622	0.0:0.0:1.0:0.0	.	158	P17516	AK1C4_HUMAN	A	158	ENSP00000369814:G158A;ENSP00000263126:G158A	ENSP00000263126:G158A	G	+	2	0	AKR1C4	5238263	1.000000	0.71417	0.788000	0.31933	0.152000	0.21847	8.039000	0.88947	1.459000	0.47892	0.313000	0.20887	GGA	AKR1C4	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000198610		0.488	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	HGNC	protein_coding	OTTHUMT00000046543.2	349	0.29	1	G	NM_001818		5248263	5248263	+1	no_errors	ENST00000263126	ensembl	human	known	69_37n	missense	835	14.94	147	SNP	0.994	C
ALDH1A2	8854	genome.wustl.edu	37	15	58357803	58357803	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr15:58357803G>T	ENST00000249750.4	-	1	813	c.46C>A	c.(46-48)Ccc>Acc	p.P16T	CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.P16T|ALDH1A2_ENST00000558231.1_Intron|ALDH1A2_ENST00000537372.1_5'UTR	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	16					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	AGGGCGGCGGGGTCGGCCTTC	0.692																																						dbGAP											0													32.0	33.0	33.0					15																	58357803		2192	4290	6482	-	-	-	SO:0001583	missense	0			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.46C>A	15.37:g.58357803G>T	ENSP00000249750:p.Pro16Thr		B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.P16T	ENST00000249750.4	37	c.46	CCDS10163.1	15	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900266	0.33535	.	.	ENSG00000128918	ENST00000249750;ENST00000347587	T;T	0.75260	-0.92;-0.92	3.58	2.65	0.31530	.	0.197578	0.43579	D	0.000543	T	0.54806	0.1881	N	0.19112	0.55	0.80722	D	1	B;B	0.33238	0.403;0.008	B;B	0.28232	0.087;0.007	T	0.55055	-0.8200	10	0.72032	D	0.01	.	7.9244	0.29865	0.0955:0.164:0.7405:0.0	.	16;16	O94788-2;O94788	.;AL1A2_HUMAN	T	16	ENSP00000249750:P16T;ENSP00000309623:P16T	ENSP00000249750:P16T	P	-	1	0	ALDH1A2	56145095	1.000000	0.71417	0.994000	0.49952	0.340000	0.28889	4.480000	0.60243	0.735000	0.32537	-0.485000	0.04761	CCC	ALDH1A2	-	NULL	ENSG00000128918		0.692	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	HGNC	protein_coding	OTTHUMT00000255869.1	43	0.00	0	G			58357803	58357803	-1	no_errors	ENST00000249750	ensembl	human	known	69_37n	missense	13	48.00	12	SNP	1.000	T
ALG10B	144245	genome.wustl.edu	37	12	38714741	38714741	+	Missense_Mutation	SNP	G	G	C	rs57963306	byFrequency	TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:38714741G>C	ENST00000308742.4	+	3	1464	c.1148G>C	c.(1147-1149)aGt>aCt	p.S383T	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	383			S -> N (in dbSNP:rs57963306).		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGGTTGGAGTATAGCTGAC	0.313																																						dbGAP											0													84.0	88.0	87.0					12																	38714741		2200	4299	6499	-	-	-	SO:0001583	missense	0			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1148G>C	12.37:g.38714741G>C	ENSP00000310120:p.Ser383Thr		B2RPF4	Missense_Mutation	SNP	pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10	p.S383T	ENST00000308742.4	37	c.1148	CCDS31772.1	12	.	.	.	.	.	.	.	.	.	.	g	5.095	0.203132	0.09704	.	.	ENSG00000175548	ENST00000308742	T	0.54479	0.57	3.34	2.37	0.29283	.	0.170911	0.64402	D	0.000005	T	0.40272	0.1110	L	0.44542	1.39	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.17048	-1.0382	10	0.17832	T	0.49	.	10.4995	0.44798	0.0:0.2807:0.7193:0.0	.	383	Q5I7T1	AG10B_HUMAN	T	383	ENSP00000310120:S383T	ENSP00000310120:S383T	S	+	2	0	ALG10B	37001008	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.708000	0.37899	0.830000	0.34757	0.655000	0.94253	AGT	ALG10B	-	pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10	ENSG00000175548		0.313	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10B	HGNC	protein_coding	OTTHUMT00000403349.1	329	0.00	0	G	NM_001013620		38714741	38714741	+1	no_errors	ENST00000308742	ensembl	human	known	69_37n	missense	134	35.27	73	SNP	0.986	C
AMPD3	272	genome.wustl.edu	37	11	10483070	10483070	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:10483070C>T	ENST00000396554.3	+	2	372	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	2					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGCTGAGATGCCGCGGCAGTT	0.552																																						dbGAP											0													141.0	147.0	145.0					11																	10483070		2201	4294	6495	-	-	-	SO:0001583	missense	0			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.31C>T	11.37:g.10483070C>T	ENSP00000379802:p.Pro11Ser		A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.P2S	ENST00000396554.3	37	c.4	CCDS7802.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.076638	0.94000	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03	5.73	5.73	0.89815	.	0.047405	0.85682	D	0.000000	T	0.78278	0.4258	L	0.59436	1.845	0.80722	D	1	P;D;D	0.89917	0.921;1.0;1.0	B;D;D	0.85130	0.352;0.996;0.997	T	0.78430	-0.2207	10	0.87932	D	0	-24.9609	20.2602	0.98440	0.0:1.0:0.0:0.0	.	9;2;11	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	S	2;11;2;2;9;2	ENSP00000432707:P2S;ENSP00000379802:P11S;ENSP00000433284:P2S;ENSP00000379801:P2S;ENSP00000436987:P9S;ENSP00000431648:P2S	ENSP00000379801:P2S	P	+	1	0	AMPD3	10439646	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.445000	0.80570	2.861000	0.98227	0.655000	0.94253	CCG	AMPD3	-	pirsf_AMP_deaminase	ENSG00000133805		0.552	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	AMPD3	HGNC	protein_coding	OTTHUMT00000385783.2	66	0.00	0	C	NM_000480		10483070	10483070	+1	no_errors	ENST00000396553	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	1.000	T
AMPD3	272	genome.wustl.edu	37	11	10483072	10483072	+	Silent	SNP	G	G	T	rs561207052		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:10483072G>T	ENST00000396554.3	+	2	374	c.33G>T	c.(31-33)ccG>ccT	p.P11P	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	2					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTGAGATGCCGCGGCAGTTTC	0.552																																						dbGAP											0													140.0	145.0	144.0					11																	10483072		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.33G>T	11.37:g.10483072G>T			A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.P2	ENST00000396554.3	37	c.6	CCDS7802.1	11																																																																																			AMPD3	-	pirsf_AMP_deaminase	ENSG00000133805		0.552	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	AMPD3	HGNC	protein_coding	OTTHUMT00000385783.2	66	0.00	0	G	NM_000480		10483072	10483072	+1	no_errors	ENST00000396553	ensembl	human	known	69_37n	silent	47	18.97	11	SNP	0.679	T
AMPD3	272	genome.wustl.edu	37	11	10483076	10483076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:10483076C>T	ENST00000396554.3	+	2	378	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	4					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATGCCGCGGCAGTTTCCCAA	0.547																																						dbGAP											0													138.0	143.0	141.0					11																	10483076		2201	4294	6495	-	-	-	SO:0001587	stop_gained	0			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.37C>T	11.37:g.10483076C>T	ENSP00000379802:p.Gln13*		A0AUX0|B7Z2S2|B7Z763|B7Z877	Nonsense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.Q4*	ENST00000396554.3	37	c.10	CCDS7802.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.417588	0.98272	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	.	.	.	5.73	5.73	0.89815	.	0.103605	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-25.4201	20.2602	0.98440	0.0:1.0:0.0:0.0	.	.	.	.	X	4;13;4;4;11;4	.	ENSP00000379801:Q4X	Q	+	1	0	AMPD3	10439652	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.445000	0.80570	2.861000	0.98227	0.655000	0.94253	CAG	AMPD3	-	pirsf_AMP_deaminase	ENSG00000133805		0.547	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	AMPD3	HGNC	protein_coding	OTTHUMT00000385783.2	70	0.00	0	C	NM_000480		10483076	10483076	+1	no_errors	ENST00000396553	ensembl	human	known	69_37n	nonsense	48	20.00	12	SNP	1.000	T
ANAPC4	29945	genome.wustl.edu	37	4	25408876	25408876	+	Splice_Site	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:25408876G>T	ENST00000315368.3	+	20	1573		c.e20+1		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|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)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AGTTGGTCAGGTATGGGCTTT	0.348																																						dbGAP											0													66.0	70.0	68.0					4																	25408876		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1431+1G>T	4.37:g.25408876G>T			A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Splice_Site	SNP	-	e19+1	ENST00000315368.3	37	c.1434+1	CCDS3434.1	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120662	0.77323	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.944	0.92615	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANAPC4	25017974	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.826000	0.86716	2.569000	0.86673	0.591000	0.81541	.	ANAPC4	-	-	ENSG00000053900		0.348	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC4	HGNC	protein_coding	OTTHUMT00000214986.1	224	0.00	0	G	NM_013367	Intron	25408876	25408876	+1	no_errors	ENST00000510092	ensembl	human	known	69_37n	splice_site	39	75.62	121	SNP	1.000	T
ANK1	286	genome.wustl.edu	37	8	41530136	41530136	+	Missense_Mutation	SNP	C	C	T	rs538742550		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:41530136C>T	ENST00000347528.4	-	38	4915	c.4832G>A	c.(4831-4833)cGg>cAg	p.R1611Q	ANK1_ENST00000396942.1_Missense_Mutation_p.R1611Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R1611Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1611Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R1611Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R1611Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R1652Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1611	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCGGGGCCCCGCGGTTCCTC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19742	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													103.0	108.0	106.0					8																	41530136		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4832G>A	8.37:g.41530136C>T	ENSP00000339620:p.Arg1611Gln		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	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.R1611Q	ENST00000347528.4	37	c.4832	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	3.249	-0.153755	0.06585	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.24	1.48	0.22813	.	0.831600	0.11033	N	0.606980	T	0.09949	0.0244	N	0.02011	-0.69	0.21802	N	0.999538	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.0;0.001;0.001	T	0.32771	-0.9894	10	0.02654	T	1	.	9.3263	0.37995	0.0:0.1345:0.0:0.8655	.	1652;1611;1611;1611	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	Q	1611;1611;1611;1611;1611;1611;1652	ENSP00000339620:R1611Q;ENSP00000289734:R1611Q;ENSP00000369082:R1611Q;ENSP00000380149:R1611Q;ENSP00000380147:R1611Q;ENSP00000309131:R1611Q;ENSP00000265709:R1652Q	ENSP00000265709:R1652Q	R	-	2	0	ANK1	41649293	0.228000	0.23718	0.736000	0.30914	0.634000	0.38068	0.148000	0.16224	0.082000	0.17018	0.552000	0.68991	CGG	ANK1	-	NULL	ENSG00000029534		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	155	0.00	0	C	NM_020475		41530136	41530136	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	missense	66	45.45	55	SNP	0.994	T
ANKRD30BL	554226	genome.wustl.edu	37	2	133015426	133015426	+	5'UTR	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:133015426C>T	ENST00000470729.1	-	0	116				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						CCCCGAAGGGCCCCCTAGTCC	0.672																																						dbGAP											0													20.0	23.0	22.0					2																	133015426		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.-1309G>A	2.37:g.133015426C>T			B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			ANKRD30BL	-	-	ENSG00000163046		0.672	ANKRD30BL-002	KNOWN	basic	processed_transcript	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331354.1	106	0.00	0	C	NR_027019		133015426	133015426	-1	no_errors	ENST00000470729	ensembl	human	known	69_37n	rna	40	21.57	11	SNP	0.002	T
AP1B1	162	genome.wustl.edu	37	22	29747816	29747816	+	Splice_Site	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:29747816T>A	ENST00000405198.1	-	7	970		c.e7-2		AP1B1_ENST00000402502.1_Splice_Site|AP1B1_ENST00000317368.7_Splice_Site|AP1B1_ENST00000415447.1_Splice_Site|AP1B1_ENST00000357586.2_Splice_Site|AP1B1_ENST00000356015.2_Splice_Site|AP1B1_ENST00000432560.2_Splice_Site			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATCTCAGGCCTGGTGGTGGGG	0.532																																						dbGAP											0													115.0	97.0	103.0					22																	29747816		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.939-2A>T	22.37:g.29747816T>A			C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Splice_Site	SNP	-	e7-2	ENST00000405198.1	37	c.939-2	CCDS13855.1	22	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935033	0.73442	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9067	0.79436	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP1B1	28077816	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	8.040000	0.89188	2.241000	0.73720	0.533000	0.62120	.	AP1B1	-	-	ENSG00000100280		0.532	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	143	0.00	0	T	NM_001127	Intron	29747816	29747816	-1	no_errors	ENST00000357586	ensembl	human	known	69_37n	splice_site	91	48.59	86	SNP	1.000	A
AP3D1	8943	genome.wustl.edu	37	19	2121185	2121186	+	Missense_Mutation	DNP	GT	GT	CC			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G|T	G|T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:2121185_2121186GT>CC	ENST00000345016.5	-	13	1457_1458	c.1226_1227AC>GG	c.(1225-1227)tAC>tGG	p.Y409W	AP3D1_ENST00000355272.6_Missense_Mutation_p.Y409W|AP3D1_ENST00000350812.6_Missense_Mutation_p.Y240W|AP3D1_ENST00000356926.4_Missense_Mutation_p.Y318W|AP3D1_ENST00000590683.1_5'UTR	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	409					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TGATGTACTGGTAGTTGGACTG	0.599																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1226_1227delinsCC	19.37:g.2121185_2121186delinsCC	ENSP00000344055:p.Tyr409Trp		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Nonsense_Mutation|Missense_Mutation	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.Y409*|p.Y409C	ENST00000345016.5	37	c.1227|c.1226	CCDS42459.1	19																																																																																			AP3D1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	ENSG00000065000		0.599	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	347|344	0.00	0	G|T			2121185|2121186	2121185|2121186	-1	no_errors	ENST00000355272	ensembl	human	known	69_37n	nonsense|missense	75|76	39.52|45.32	49|63	SNP	1.000	C
AP2A1	160	genome.wustl.edu	37	19	50295317	50295317	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:50295317A>G	ENST00000359032.5	+	5	599	c.599A>G	c.(598-600)cAc>cGc	p.H200R	AP2A1_ENST00000354293.5_Missense_Mutation_p.H200R|AP2A1_ENST00000600199.1_3'UTR	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	200					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		AATGACCAGCACATGGTGAGC	0.682																																						dbGAP											0													69.0	78.0	75.0					19																	50295317		2131	4225	6356	-	-	-	SO:0001583	missense	0			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.599A>G	19.37:g.50295317A>G	ENSP00000351926:p.His200Arg		Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.H200R	ENST00000359032.5	37	c.599	CCDS46148.1	19	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390160	0.82902	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.37752	1.18;1.18	4.91	4.91	0.64330	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63165	0.2488	M	0.85197	2.74	0.80722	D	1	D;D	0.67145	0.996;0.987	D;D	0.80764	0.994;0.982	T	0.69932	-0.5011	10	0.72032	D	0.01	.	13.5407	0.61672	1.0:0.0:0.0:0.0	.	200;200	O95782-2;O95782	.;AP2A1_HUMAN	R	200	ENSP00000346246:H200R;ENSP00000351926:H200R	ENSP00000346246:H200R	H	+	2	0	AP2A1	54987129	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.095000	0.94175	1.847000	0.53656	0.533000	0.62120	CAC	AP2A1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu	ENSG00000196961		0.682	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1	54	0.00	0	A			50295317	50295317	+1	no_errors	ENST00000359032	ensembl	human	known	69_37n	missense	47	55.24	58	SNP	1.000	G
AR	367	genome.wustl.edu	37	X	66931270	66931270	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:66931270C>A	ENST00000374690.3	+	4	2436	c.1912C>A	c.(1912-1914)Ctg>Atg	p.L638M	AR_ENST00000396044.3_Missense_Mutation_p.L638M|AR_ENST00000396043.2_Missense_Mutation_p.L106M	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	637	Interaction with HIPK3. {ECO:0000250}.|Interaction with KAT7.|Interaction with LPXN.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ACTTGGTAATCTGAAACTACA	0.453									Androgen Insensitivity Syndrome																													dbGAP											0													47.0	34.0	39.0					X																	66931270		2202	4298	6500	-	-	-	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1912C>A	X.37:g.66931270C>A	ENSP00000363822:p.Leu638Met		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,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,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.L638M	ENST00000374690.3	37	c.1912	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	c	12.01	1.808840	0.31961	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396044;ENST00000396043	D;D;D	0.88896	-2.37;-2.44;-2.2	5.28	3.48	0.39840	Zinc finger, NHR/GATA-type (1);	0.142496	0.48767	D	0.000177	D	0.85544	0.5721	M	0.69358	2.11	0.35842	D	0.826132	B;P	0.43412	0.049;0.806	B;B	0.40134	0.027;0.32	D	0.85493	0.1186	10	0.30078	T	0.28	.	9.0781	0.36534	0.0:0.8116:0.0:0.1884	.	106;637	F1D8N5;P10275	.;ANDR_HUMAN	M	448;638;638;106	ENSP00000363822:L638M;ENSP00000379359:L638M;ENSP00000379358:L106M	ENSP00000363822:L638M	L	+	1	2	AR	66847995	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	3.019000	0.49635	1.202000	0.43218	0.591000	0.81541	CTG	AR	-	NULL	ENSG00000169083		0.453	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	110	0.00	0	C	NM_000044		66931270	66931270	+1	no_errors	ENST00000374690	ensembl	human	known	69_37n	missense	33	54.17	39	SNP	0.999	A
ARHGAP40	343578	genome.wustl.edu	37	20	37267951	37267951	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr20:37267951T>A	ENST00000373345.4	+	9	1210	c.1042T>A	c.(1042-1044)Ttg>Atg	p.L348M		NM_001164431.1	NP_001157903.1	Q5TG30	RHG40_HUMAN	Rho GTPase activating protein 40	348	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)	1						CGCCTCTGATTTGCTCAAAAG	0.562																																						dbGAP											0													103.0	95.0	98.0					20																	37267951		692	1591	2283	-	-	-	SO:0001583	missense	0			AL035419		20q11.23	2011-06-29	2010-04-14	2010-04-14	ENSG00000124143	ENSG00000124143		"""Rho GTPase activating proteins"""	16226	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 95"""	C20orf95			Standard	NM_001164431		Approved	dJ1100H13.4	uc021wdn.1	Q5TG30	OTTHUMG00000032453	ENST00000373345.4:c.1042T>A	20.37:g.37267951T>A	ENSP00000362442:p.Leu348Met			Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L348M	ENST00000373345.4	37	c.1042		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.71|10.71	1.426441|1.426441	0.25726|0.25726	.|.	.|.	ENSG00000124143|ENSG00000124143	ENST00000243967|ENST00000373345	.|T	.|0.23147	.|1.92	4.68|4.68	-0.356|-0.356	0.12583|0.12583	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.34745|0.34745	0.0908|0.0908	M|M	0.85299|0.85299	2.745|2.745	0.33729|0.33729	D|D	0.617925|0.617925	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.37686|0.37686	-0.9695|-0.9695	5|8	.|0.23891	.|T	.|0.37	.|.	5.0063|5.0063	0.14289|0.14289	0.0:0.3651:0.1638:0.4711|0.0:0.3651:0.1638:0.4711	.|.	.|.	.|.	.|.	Y|M	288|348	.|ENSP00000362442:L348M	.|ENSP00000362442:L348M	F|L	+|+	2|1	0|2	ARHGAP40|ARHGAP40	36701365|36701365	0.069000|0.069000	0.21087|0.21087	0.144000|0.144000	0.22314|0.22314	0.293000|0.293000	0.27360|0.27360	0.284000|0.284000	0.18864|0.18864	-0.379000|-0.379000	0.07906|0.07906	-0.371000|-0.371000	0.07208|0.07208	TTT|TTG	ARHGAP40	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000124143		0.562	ARHGAP40-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP40	HGNC	protein_coding		224	0.00	0	T	XM_293123		37267951	37267951	+1	no_errors	ENST00000373345	ensembl	human	known	69_37n	missense	169	60.14	255	SNP	0.883	A
ARHGEF37	389337	genome.wustl.edu	37	5	149001472	149001473	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:149001472_149001473delAT	ENST00000333677.6	+	9	1345_1346	c.1182_1183delAT	c.(1180-1185)acatacfs	p.Y395fs		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	395	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCCGGCACACATACCAGGCACT	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1182_1183delAT	5.37:g.149001472_149001473delAT	ENSP00000328083:p.Tyr395fs		Q6ZW51	Frame_Shift_Del	DEL	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.Y395fs	ENST00000333677.6	37	c.1182_1183	CCDS43385.1	5																																																																																			ARHGEF37	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000183111		0.584	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF37	HGNC	protein_coding	OTTHUMT00000373763.1	133	0.00	0	AT	NM_001001669		149001472	149001473	+1	no_errors	ENST00000333677	ensembl	human	known	69_37n	frame_shift_del	134	11.26	17	DEL	0.720:1.000	-
ARID1A	8289	genome.wustl.edu	37	1	27089688	27089688	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:27089688G>T	ENST00000324856.7	+	8	3015	c.2644G>T	c.(2644-2646)Ggg>Tgg	p.G882W	ARID1A_ENST00000374152.2_Missense_Mutation_p.G499W|ARID1A_ENST00000457599.2_Missense_Mutation_p.G882W|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	882					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGTTGGGTCAGGGATGTGTCC	0.572			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													60.0	54.0	56.0					1																	27089688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2644G>T	1.37:g.27089688G>T	ENSP00000320485:p.Gly882Trp		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	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.G882W	ENST00000324856.7	37	c.2644	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941959	0.73557	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.04156	3.75;3.69;3.73	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.24160	0.0585	M	0.74258	2.255	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	0.00030	-1.2285	10	0.87932	D	0	-8.6692	19.9142	0.97043	0.0:0.0:1.0:0.0	.	882;882;536	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	W	882;882;499	ENSP00000320485:G882W;ENSP00000387636:G882W;ENSP00000363267:G499W	ENSP00000320485:G882W	G	+	1	0	ARID1A	26962275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.235000	0.95353	2.941000	0.99782	0.655000	0.94253	GGG	ARID1A	-	NULL	ENSG00000117713		0.572	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	62	0.00	0	G	NM_139135		27089688	27089688	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	missense	30	33.33	15	SNP	1.000	T
ASB2	51676	genome.wustl.edu	37	14	94413838	94413838	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:94413838G>C	ENST00000315988.4	-	5	1253	c.765C>G	c.(763-765)gaC>gaG	p.D255E	MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Missense_Mutation_p.D303E	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	255					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CAGACGCGTTGTCGCTGGCCT	0.582																																						dbGAP											0													157.0	124.0	135.0					14																	94413838		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.765C>G	14.37:g.94413838G>C	ENSP00000320675:p.Asp255Glu		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.D255E	ENST00000315988.4	37	c.765	CCDS9915.1	14	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275533	0.59649	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.54279	2.31;2.31;0.58	5.19	3.33	0.38152	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	L	0.28776	0.89	0.46725	D	0.999176	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.55724	-0.8096	10	0.45353	T	0.12	-1.3627	10.6577	0.45684	0.1757:0.0:0.8243:0.0	.	271;303;255	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	E	303;271;255;201;201	ENSP00000451575:D303E;ENSP00000320675:D255E;ENSP00000450940:D201E	ENSP00000320675:D255E	D	-	3	2	ASB2	93483591	0.996000	0.38824	0.978000	0.43139	0.481000	0.33189	1.064000	0.30579	2.417000	0.82017	0.462000	0.41574	GAC	ASB2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000100628		0.582	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	233	0.00	0	G			94413838	94413838	-1	no_errors	ENST00000315988	ensembl	human	known	69_37n	missense	192	17.24	40	SNP	0.977	C
ASPHD1	253982	genome.wustl.edu	37	16	29913171	29913171	+	Silent	SNP	C	C	T	rs200640580	byFrequency	TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:29913171C>T	ENST00000308748.5	+	1	1131	c.879C>T	c.(877-879)tcC>tcT	p.S293S	ASPHD1_ENST00000483405.1_Silent_p.S12S|SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	293					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CCGGCTTTTCCGTTCTCCTGC	0.657													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15534	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													21.0	21.0	21.0					16																	29913171		2134	4199	6333	-	-	-	SO:0001819	synonymous_variant	0			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.879C>T	16.37:g.29913171C>T			A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.S293	ENST00000308748.5	37	c.879	CCDS10660.1	16																																																																																			ASPHD1	-	pfam_Asp_Arg_b-Hydrxlase	ENSG00000174939		0.657	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPHD1	HGNC	protein_coding	OTTHUMT00000255163.2	9	0.00	0	C	NM_181718		29913171	29913171	+1	no_errors	ENST00000308748	ensembl	human	known	69_37n	silent	12	42.86	9	SNP	0.207	T
ATG9A	79065	genome.wustl.edu	37	2	220089424	220089424	+	Silent	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:220089424A>C	ENST00000409618.1	-	8	1108	c.669T>G	c.(667-669)gtT>gtG	p.V223V	ATG9A_ENST00000409422.1_Silent_p.V162V|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Silent_p.V223V|ATG9A_ENST00000396761.2_Silent_p.V223V|ATG9A_ENST00000488833.1_5'Flank			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	223					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGATTTGTTAACCAGTGCCA	0.547																																						dbGAP											0													102.0	106.0	105.0					2																	220089424		2123	4240	6363	-	-	-	SO:0001819	synonymous_variant	0			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.669T>G	2.37:g.220089424A>C			Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	p.V223	ENST00000409618.1	37	c.669	CCDS42820.1	2																																																																																			ATG9A	-	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	ENSG00000198925		0.547	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	HGNC	protein_coding	OTTHUMT00000335930.1	174	0.00	0	A	NM_024085		220089424	220089424	-1	no_errors	ENST00000361242	ensembl	human	known	69_37n	silent	93	19.83	23	SNP	0.873	C
ATG9A	79065	genome.wustl.edu	37	2	220089426	220089426	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:220089426C>G	ENST00000409618.1	-	8	1106	c.667G>C	c.(667-669)Gtt>Ctt	p.V223L	ATG9A_ENST00000409422.1_Missense_Mutation_p.V162L|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Missense_Mutation_p.V223L|ATG9A_ENST00000396761.2_Missense_Mutation_p.V223L|ATG9A_ENST00000488833.1_5'Flank			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	223					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATTTGTTAACCAGTGCCACC	0.547																																						dbGAP											0													104.0	109.0	107.0					2																	220089426		2130	4240	6370	-	-	-	SO:0001583	missense	0			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.667G>C	2.37:g.220089426C>G	ENSP00000386710:p.Val223Leu		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	p.V223L	ENST00000409618.1	37	c.667	CCDS42820.1	2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023265	0.54683	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000431715	T;T;T;T	0.32272	1.88;1.88;1.88;1.46	5.11	5.11	0.69529	.	0.123426	0.53938	D	0.000058	T	0.30386	0.0763	L	0.46157	1.445	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.05550	-1.0878	10	0.24483	T	0.36	.	18.146	0.89655	0.0:1.0:0.0:0.0	.	223	Q7Z3C6	ATG9A_HUMAN	L	223;223;223;162;127	ENSP00000379983:V223L;ENSP00000386710:V223L;ENSP00000355173:V223L;ENSP00000386535:V162L	ENSP00000355173:V223L	V	-	1	0	ATG9A	219797670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.780000	0.85658	2.366000	0.80165	0.655000	0.94253	GTT	ATG9A	-	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	ENSG00000198925		0.547	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	HGNC	protein_coding	OTTHUMT00000335930.1	174	0.00	0	C	NM_024085		220089426	220089426	-1	no_errors	ENST00000361242	ensembl	human	known	69_37n	missense	93	19.13	22	SNP	1.000	G
BAI2	576	genome.wustl.edu	37	1	32201168	32201169	+	Intron	INS	-	-	C	rs2271930	byFrequency	TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:32201168_32201169insC	ENST00000373658.3	-	24	3695				BAI2_ENST00000257070.4_Intron|BAI2_ENST00000398542.1_Intron|BAI2_ENST00000373655.2_Intron|BAI2_ENST00000527361.1_Intron|BAI2_ENST00000440175.2_Intron|BAI2_ENST00000398538.1_Intron|BAI2_ENST00000398556.3_Intron|BAI2_ENST00000398547.1_Intron|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTCTCAGAGGCCCCCCCCTTA	0.579																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3353+11->G	1.37:g.32201176_32201176dupC			B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	RNA	INS	-	NULL	ENST00000373658.3	37	NULL	CCDS346.2	1																																																																																			BAI2	-	-	ENSG00000121753		0.579	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	147	0.00	0	-	NM_001703		32201168	32201169	-1	no_errors	ENST00000465256	ensembl	human	known	69_37n	rna	60	10.45	7	INS	0.516:0.865	C
BASP1	10409	genome.wustl.edu	37	5	17275511	17275511	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:17275511C>T	ENST00000322611.3	+	2	446	c.186C>T	c.(184-186)gcC>gcT	p.A62A		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	62					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						ACCAGGACGCCGAGGGCAAGG	0.731																																						dbGAP											0													22.0	30.0	27.0					5																	17275511		2176	4245	6421	-	-	-	SO:0001819	synonymous_variant	0			AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.186C>T	5.37:g.17275511C>T			B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	pfam_BASP1	p.A62	ENST00000322611.3	37	c.186	CCDS3888.1	5																																																																																			BASP1	-	pfam_BASP1	ENSG00000176788		0.731	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BASP1	HGNC	protein_coding	OTTHUMT00000253716.2	23	0.00	0	C			17275511	17275511	+1	no_errors	ENST00000322611	ensembl	human	known	69_37n	silent	7	57.89	11	SNP	0.024	T
BBS12	166379	genome.wustl.edu	37	4	123664820	123664820	+	Silent	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:123664820G>C	ENST00000314218.3	+	2	1966	c.1773G>C	c.(1771-1773)ctG>ctC	p.L591L	BBS12_ENST00000542236.1_Silent_p.L591L	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	591					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTAAATTCCTGGCAAATGGAT	0.413									Bardet-Biedl syndrome																													dbGAP											0													82.0	78.0	80.0					4																	123664820		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1773G>C	4.37:g.123664820G>C			D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.L591	ENST00000314218.3	37	c.1773	CCDS3728.1	4																																																																																			BBS12	-	superfamily_Cpn60/TCP-1	ENSG00000181004		0.413	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	269	0.00	0	G	NM_152618		123664820	123664820	+1	no_errors	ENST00000314218	ensembl	human	known	69_37n	silent	205	23.99	65	SNP	0.999	C
BCL7B	9275	genome.wustl.edu	37	7	72951608	72951608	+	3'UTR	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:72951608G>A	ENST00000223368.2	-	0	1052				BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_3'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B								actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGGCCAGGAGGCGGAGGGCC	0.627																																						dbGAP											0													49.0	59.0	56.0					7																	72951608		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.*20C>T	7.37:g.72951608G>A			A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	RNA	SNP	-	NULL	ENST00000223368.2	37	NULL	CCDS5550.1	7																																																																																			BCL7B	-	-	ENSG00000106635		0.627	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL7B	HGNC	protein_coding	OTTHUMT00000252194.1	50	0.00	0	G	NM_001707		72951608	72951608	-1	no_errors	ENST00000463858	ensembl	human	known	69_37n	rna	19	40.62	13	SNP	0.500	A
BCL9	607	genome.wustl.edu	37	1	147091500	147091501	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:147091500_147091501insC	ENST00000234739.3	+	8	2279_2280	c.1539_1540insC	c.(1540-1542)cccfs	p.P514fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	514	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGTCCGAGGACCCCCCCCTCC	0.579			T	"""IGH@, IGL@"""	B-ALL																																	dbGAP		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1547dupC	1.37:g.147091508_147091508dupC	ENSP00000234739:p.Pro514fs		Q5T489	Frame_Shift_Ins	INS	pfam_BCL9_beta-catenin-bd_dom	p.P516fs	ENST00000234739.3	37	c.1539_1540	CCDS30833.1	1																																																																																			BCL9	-	NULL	ENSG00000116128		0.579	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	29	0.00	0	-	NM_004326		147091500	147091501	+1	no_errors	ENST00000234739	ensembl	human	known	69_37n	frame_shift_ins	40	18.37	9	INS	1.000:1.000	C
BCR	613	genome.wustl.edu	37	22	23524096	23524097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:23524096_23524097insC	ENST00000305877.8	+	1	1700_1701	c.949_950insC	c.(949-951)tccfs	p.S317fs	BCR_ENST00000398512.5_Frame_Shift_Ins_p.S317fs|BCR_ENST00000359540.3_Frame_Shift_Ins_p.S317fs	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	317	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CAGGTCCTACTCCCCCCGGAGT	0.653			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	dbGAP		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.955dupC	22.37:g.23524102_23524102dupC	ENSP00000303507:p.Ser317fs		P78501|Q12842|Q4LE80|Q6NZI3	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.R319fs	ENST00000305877.8	37	c.949_950	CCDS13806.1	22																																																																																			BCR	-	NULL	ENSG00000186716		0.653	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	45	0.00	0	-	NM_004327		23524096	23524097	+1	no_errors	ENST00000305877	ensembl	human	known	69_37n	frame_shift_ins	12	20.00	3	INS	1.000:1.000	C
BIRC6	57448	genome.wustl.edu	37	2	32640653	32640653	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:32640653C>A	ENST00000421745.2	+	10	2428	c.2294C>A	c.(2293-2295)gCc>gAc	p.A765D		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	765					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAAGTAGAGGCCTTGAATAAT	0.378																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													47.0	49.0	48.0					2																	32640653		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2294C>A	2.37:g.32640653C>A	ENSP00000393596:p.Ala765Asp		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.A765D	ENST00000421745.2	37	c.2294	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342209	0.41498	.	.	ENSG00000115760	ENST00000421745	T	0.62639	0.01	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	N	0.08118	0	0.53688	D	0.999976	P	0.44877	0.845	B	0.40477	0.33	T	0.49762	-0.8905	10	0.34782	T	0.22	.	19.9618	0.97254	0.0:1.0:0.0:0.0	.	765	Q9NR09	BIRC6_HUMAN	D	765	ENSP00000393596:A765D	ENSP00000393596:A765D	A	+	2	0	BIRC6	32494157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.823000	0.69272	2.722000	0.93159	0.650000	0.86243	GCC	BIRC6	-	NULL	ENSG00000115760		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	66	0.00	0	C	NM_016252		32640653	32640653	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	missense	71	28.00	28	SNP	1.000	A
C10orf2	56652	genome.wustl.edu	37	10	102748271	102748271	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:102748271C>A	ENST00000311916.2	+	1	489	c.304C>A	c.(304-306)Ctc>Atc	p.L102I	MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.L102I|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|RP11-108L7.4_ENST00000447344.1_RNA	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	102					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TTCCTTCAGCCTCTTCATTGA	0.582																																						dbGAP											0													120.0	125.0	124.0					10																	102748271		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.304C>A	10.37:g.102748271C>A	ENSP00000309595:p.Leu102Ile		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.L102I	ENST00000311916.2	37	c.304	CCDS7506.1	10	.	.	.	.	.	.	.	.	.	.	C	14.66	2.603115	0.46423	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.95690	-3.52;-3.78	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.66939	2.045	0.37988	D	0.93382	D;D	0.57571	0.98;0.966	P;P	0.54856	0.762;0.583	D	0.96565	0.9418	10	0.37606	T	0.19	-22.4108	18.0	0.89196	0.0:1.0:0.0:0.0	.	102;102	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	I	102	ENSP00000309595:L102I;ENSP00000359248:L102I	ENSP00000309595:L102I	L	+	1	0	C10orf2	102738261	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	2.301000	0.43628	2.593000	0.87608	0.455000	0.32223	CTC	C10orf2	-	NULL	ENSG00000107815		0.582	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	87	0.00	0	C	NM_021830		102748271	102748271	+1	no_errors	ENST00000311916	ensembl	human	known	69_37n	missense	40	11.11	5	SNP	1.000	A
C1orf174	339448	genome.wustl.edu	37	1	3807144	3807144	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:3807144C>G	ENST00000361605.3	-	3	705	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	203						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TGCATGAGCTCAACGTTTCCA	0.542																																						dbGAP											0													78.0	75.0	76.0					1																	3807144		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.607G>C	1.37:g.3807144C>G	ENSP00000355306:p.Glu203Gln		A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	NULL	p.E203Q	ENST00000361605.3	37	c.607	CCDS53.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459264	0.84317	.	.	ENSG00000198912	ENST00000361605	T	0.33438	1.41	5.28	4.35	0.52113	.	0.158729	0.52532	N	0.000063	T	0.52693	0.1750	M	0.64404	1.975	0.42780	D	0.993865	D	0.89917	1.0	D	0.87578	0.998	T	0.57159	-0.7859	10	0.66056	D	0.02	-33.4539	14.8705	0.70453	0.0:0.8556:0.1444:0.0	.	203	Q8IYL3	CA174_HUMAN	Q	203	ENSP00000355306:E203Q	ENSP00000355306:E203Q	E	-	1	0	C1orf174	3797004	1.000000	0.71417	0.817000	0.32601	0.929000	0.56500	6.989000	0.76219	1.185000	0.42971	0.563000	0.77884	GAG	C1orf174	-	NULL	ENSG00000198912		0.542	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf174	HGNC	protein_coding	OTTHUMT00000010539.1	139	0.00	0	C	NM_207356		3807144	3807144	-1	no_errors	ENST00000361605	ensembl	human	known	69_37n	missense	60	31.82	28	SNP	0.997	G
C1orf61	10485	genome.wustl.edu	37	1	156377691	156377691	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:156377691delA	ENST00000368243.1	-	5	364	c.248delT	c.(247-249)gtcfs	p.V83fs	C1orf61_ENST00000488498.2_5'UTR	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	83						nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					GAGTGGCAGGACGCAGAGGCA	0.577																																						dbGAP											0													106.0	82.0	90.0					1																	156377691		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0				CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.248delT	1.37:g.156377691delA	ENSP00000357226:p.Val83fs		B1ALL5|B1ALL8	Frame_Shift_Del	DEL	NULL	p.V83fs	ENST00000368243.1	37	c.248	CCDS1142.1	1																																																																																			C1orf61	-	NULL	ENSG00000125462		0.577	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf61	HGNC	protein_coding	OTTHUMT00000075988.1	198	0.00	0	A	NM_006365		156377691	156377691	-1	no_errors	ENST00000368243	ensembl	human	known	69_37n	frame_shift_del	189	10.88	26	DEL	0.005	-
C1orf64	149563	genome.wustl.edu	37	1	16330801	16330801	+	Start_Codon_SNP	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:16330801G>C	ENST00000329454.2	+	1	71	c.3G>C	c.(1-3)atG>atC	p.M1I	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	1										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGCCGCATGGCCCCGTCAG	0.632																																						dbGAP											0													34.0	32.0	33.0					1																	16330801		2192	4289	6481	-	-	-	SO:0001582	initiator_codon_variant	0			AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.3G>C	1.37:g.16330801G>C	ENSP00000332162:p.Met1Ile		B3KXI9	Missense_Mutation	SNP	NULL	p.M1I	ENST00000329454.2	37	c.3	CCDS166.1	1	.	.	.	.	.	.	.	.	.	.	G	9.980	1.227977	0.22542	.	.	ENSG00000183888	ENST00000329454	T	0.51071	0.72	3.78	1.9	0.25705	.	0.660669	0.13783	N	0.363079	T	0.34658	0.0905	.	.	.	0.53688	D	0.999979	B	0.32829	0.386	B	0.24394	0.053	T	0.22417	-1.0217	9	0.87932	D	0	-6.5353	7.7777	0.29048	0.1456:0.0:0.8544:0.0	.	1	Q8NEQ6	CA064_HUMAN	I	1	ENSP00000332162:M1I	ENSP00000332162:M1I	M	+	3	0	C1orf64	16203388	0.011000	0.17503	0.013000	0.15412	0.027000	0.11550	0.446000	0.21694	0.593000	0.29745	0.491000	0.48974	ATG	C1orf64	-	NULL	ENSG00000183888		0.632	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf64	HGNC	protein_coding	OTTHUMT00000026317.1	33	0.00	0	G	NM_178840	Missense_Mutation	16330801	16330801	+1	no_errors	ENST00000329454	ensembl	human	known	69_37n	missense	12	79.37	50	SNP	0.013	C
C1orf64	149563	genome.wustl.edu	37	1	16330804	16330804	+	Silent	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:16330804C>A	ENST00000329454.2	+	1	74	c.6C>A	c.(4-6)gcC>gcA	p.A2A	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	2										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGCATGGCCCCGTCAGAAG	0.642																																						dbGAP											0													35.0	33.0	34.0					1																	16330804		2192	4289	6481	-	-	-	SO:0001819	synonymous_variant	0			AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.6C>A	1.37:g.16330804C>A			B3KXI9	Silent	SNP	NULL	p.A2	ENST00000329454.2	37	c.6	CCDS166.1	1																																																																																			C1orf64	-	NULL	ENSG00000183888		0.642	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf64	HGNC	protein_coding	OTTHUMT00000026317.1	38	0.00	0	C	NM_178840		16330804	16330804	+1	no_errors	ENST00000329454	ensembl	human	known	69_37n	silent	13	81.43	57	SNP	0.000	A
NOL4L	140688	genome.wustl.edu	37	20	31041555	31041556	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr20:31041555_31041556insG	ENST00000359676.5	-	4	538_539	c.396_397insC	c.(394-399)ccctacfs	p.Y133fs	C20orf112_ENST00000475781.1_5'UTR|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		133						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCAGAGCTGTAGGGGGGGGACT	0.634																																						dbGAP											0										28,4072		1,26,2023						5.0	1.0			20	27,7927		3,21,3953	no	frameshift	C20orf112	NM_080616.3		4,47,5976	A1A1,A1R,RR		0.3395,0.6829,0.4563				55,11999				-	-	-	SO:0001589	frameshift_variant	0																														ENST00000359676.5:c.397dupC	20.37:g.31041563_31041563dupG	ENSP00000352704:p.Tyr133fs		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Frame_Shift_Ins	INS	NULL	p.Y132fs	ENST00000359676.5	37	c.397_396	CCDS13202.1	20																																																																																			C20orf112	-	NULL	ENSG00000197183		0.634	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	161	0.00	0	-			31041555	31041556	-1	no_errors	ENST00000359676	ensembl	human	known	69_37n	frame_shift_ins	121	10.37	14	INS	0.997:0.034	G
C2CD3	26005	genome.wustl.edu	37	11	73829409	73829409	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:73829409T>G	ENST00000334126.7	-	9	1610	c.1384A>C	c.(1384-1386)Agt>Cgt	p.S462R	C2CD3_ENST00000313663.7_Missense_Mutation_p.S462R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	462					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGGAAATCACTGATGCTGGTA	0.403																																						dbGAP											0													97.0	92.0	94.0					11																	73829409		2200	4293	6493	-	-	-	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1384A>C	11.37:g.73829409T>G	ENSP00000334379:p.Ser462Arg		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.S462R	ENST00000334126.7	37	c.1384		11	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572558	0.86542	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.11821	2.74;2.77	6.02	6.02	0.97574	.	0.153741	0.64402	D	0.000018	T	0.32882	0.0844	M	0.66939	2.045	0.42614	D	0.993326	D;D	0.61080	0.985;0.989	P;P	0.58454	0.836;0.839	T	0.03354	-1.1045	10	0.87932	D	0	-13.3027	16.2108	0.82158	0.0:0.0:0.0:1.0	.	462;462	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	R	462	ENSP00000334379:S462R;ENSP00000323339:S462R	ENSP00000323339:S462R	S	-	1	0	C2CD3	73507057	1.000000	0.71417	0.946000	0.38457	0.996000	0.88848	3.950000	0.56676	2.299000	0.77371	0.528000	0.53228	AGT	C2CD3	-	NULL	ENSG00000168014		0.403	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		200	0.00	0	T	NM_015531		73829409	73829409	-1	no_errors	ENST00000334126	ensembl	human	known	69_37n	missense	309	18.21	69	SNP	0.991	G
C4BPB	725	genome.wustl.edu	37	1	207265113	207265113	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:207265113C>G	ENST00000243611.5	+	3	651	c.357C>G	c.(355-357)agC>agG	p.S119R	C4BPB_ENST00000451804.2_Missense_Mutation_p.S109R|C4BPB_ENST00000367078.3_Missense_Mutation_p.S119R|C4BPB_ENST00000391923.1_Missense_Mutation_p.S119R|C4BPB_ENST00000367076.3_Missense_Mutation_p.S118R	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	119	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						GCAATCGGAGCCAGTGTCTAG	0.463																																						dbGAP											0													109.0	93.0	98.0					1																	207265113		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.357C>G	1.37:g.207265113C>G	ENSP00000243611:p.Ser119Arg		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S119R	ENST00000243611.5	37	c.357	CCDS1476.1	1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386448	0.61956	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.04	3.13	0.36017	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000004	T	0.60340	0.2261	L	0.31420	0.93	0.29998	N	0.816312	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.54873	-0.8228	10	0.08381	T	0.77	-23.2407	7.0506	0.25071	0.0:0.7874:0.0:0.2126	.	109;109;119;118	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	R	119;119;119;118;119;109	ENSP00000356045:S119R;ENSP00000392237:S119R;ENSP00000243611:S119R;ENSP00000356043:S118R;ENSP00000375790:S119R;ENSP00000405649:S109R	ENSP00000243611:S119R	S	+	3	2	C4BPB	205331736	0.985000	0.35326	0.993000	0.49108	0.977000	0.68977	0.139000	0.16036	0.677000	0.31305	0.591000	0.81541	AGC	C4BPB	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000123843		0.463	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C4BPB	HGNC	protein_coding	OTTHUMT00000087847.2	130	0.00	0	C	NM_000716		207265113	207265113	+1	no_errors	ENST00000243611	ensembl	human	known	69_37n	missense	187	23.05	56	SNP	1.000	G
LY6G6C	80740	genome.wustl.edu	37	6	31691562	31691562	+	5'Flank	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:31691562G>A	ENST00000375819.2	-	0	0				C6orf25_ENST00000375810.4_Missense_Mutation_p.G70R|LY6G6C_ENST00000495859.1_5'Flank|C6orf25_ENST00000375805.2_Missense_Mutation_p.G70R|C6orf25_ENST00000375809.3_Missense_Mutation_p.G70R|C6orf25_ENST00000480039.1_Missense_Mutation_p.G70R	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						CTCTTCGAGCGGGACCCCCAC	0.687																																						dbGAP											0													47.0	56.0	53.0					6																	31691562		2202	4298	6500	-	-	-	SO:0001631	upstream_gene_variant	0				CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691562G>A	Exception_encountered		Q5SRS8|Q8IY94	Missense_Mutation	SNP	NULL	p.G70R	ENST00000375819.2	37	c.208	CCDS4714.1	6	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284345	0.23392	.	.	ENSG00000204420	ENST00000480039;ENST00000375810;ENST00000375805;ENST00000375809;ENST00000375804;ENST00000375814;ENST00000375806	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	4.79	2.98	0.34508	Immunoglobulin subtype (1);	0.267681	0.26832	N	0.022279	T	0.27663	0.0680	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.33135	0.35;0.399;0.225;0.35;0.35;0.35	B;B;B;B;B;B	0.29077	0.046;0.098;0.046;0.067;0.046;0.067	T	0.08554	-1.0716	10	0.54805	T	0.06	-3.7899	7.3904	0.26907	0.201:0.0:0.799:0.0	.	70;70;70;70;70;70	O95866-3;O95866-5;O95866;O95866-4;O95866-7;B0V023	.;.;G6B_HUMAN;.;.;.	R	70	ENSP00000419306:G70R;ENSP00000364968:G70R;ENSP00000364963:G70R;ENSP00000364967:G70R;ENSP00000364962:G70R;ENSP00000364972:G70R;ENSP00000364964:G70R	ENSP00000364962:G70R	G	+	1	0	C6orf25	31799541	0.000000	0.05858	0.021000	0.16686	0.434000	0.31775	0.455000	0.21843	0.610000	0.30035	0.491000	0.48974	GGG	C6orf25	-	NULL	ENSG00000204420		0.687	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf25	HGNC	protein_coding	OTTHUMT00000076530.2	32	0.00	0	G			31691562	31691562	+1	no_errors	ENST00000375806	ensembl	human	known	69_37n	missense	71	36.04	40	SNP	0.030	A
C7orf25	79020	genome.wustl.edu	37	7	42949919	42949919	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:42949919delG	ENST00000350427.4	-	2	856	c.581delC	c.(580-582)gcafs	p.A194fs	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Frame_Shift_Del_p.A252fs|C7orf25_ENST00000447342.1_Frame_Shift_Del_p.A194fs|C7orf25_ENST00000438029.1_Frame_Shift_Del_p.A194fs			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	194										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						AGCGTTGACTGCTACTATGTC	0.478																																						dbGAP											0													84.0	78.0	80.0					7																	42949919		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.581delC	7.37:g.42949919delG	ENSP00000343364:p.Ala194fs		A4D1V2|J3KR36|Q9H779	Frame_Shift_Del	DEL	pfam_DUF1308	p.A252fs	ENST00000350427.4	37	c.755	CCDS5466.1	7																																																																																			C7orf25	-	pfam_DUF1308	ENSG00000136197		0.478	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf25	HGNC	protein_coding	OTTHUMT00000250814.2	135	0.00	0	G	NM_024054		42949919	42949919	-1	no_errors	ENST00000431882	ensembl	human	known	69_37n	frame_shift_del	85	10.53	10	DEL	1.000	-
C7orf25	79020	genome.wustl.edu	37	7	42949923	42949923	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:42949923C>T	ENST00000350427.4	-	2	852	c.577G>A	c.(577-579)Gta>Ata	p.V193I	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.V251I|C7orf25_ENST00000447342.1_Missense_Mutation_p.V193I|C7orf25_ENST00000438029.1_Missense_Mutation_p.V193I			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	193										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTGACTGCTACTATGTCTCCT	0.468																																						dbGAP											0													85.0	79.0	81.0					7																	42949923		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.577G>A	7.37:g.42949923C>T	ENSP00000343364:p.Val193Ile		A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	pfam_DUF1308	p.V251I	ENST00000350427.4	37	c.751	CCDS5466.1	7	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077554	0.36662	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.48522	0.85;0.85;0.81;0.85	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.29908	0.895	0.80722	D	1	P;P	0.36086	0.476;0.536	B;B	0.32393	0.145;0.134	T	0.13308	-1.0514	10	0.12430	T	0.62	-15.6413	20.1083	0.97900	0.0:1.0:0.0:0.0	.	251;193	B4DQM3;Q9BPX7	.;CG025_HUMAN	I	193;193;251;193	ENSP00000343364:V193I;ENSP00000413029:V193I;ENSP00000416290:V251I;ENSP00000396597:V193I	ENSP00000343364:V193I	V	-	1	0	C7orf25	42916448	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	7.484000	0.81180	2.764000	0.94973	0.556000	0.70494	GTA	C7orf25	-	pfam_DUF1308	ENSG00000136197		0.468	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf25	HGNC	protein_coding	OTTHUMT00000250814.2	140	0.00	0	C	NM_024054		42949923	42949923	-1	no_errors	ENST00000431882	ensembl	human	known	69_37n	missense	86	12.24	12	SNP	1.000	T
CCDC180	100499483	genome.wustl.edu	37	9	100127901	100127901	+	Intron	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:100127901A>C	ENST00000357054.1	+	42	4882				CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000529487.1_Intron|RP11-23J9.4_ENST00000534123.1_RNA|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000375202.2_Intron			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GGTTTTGTCCATGTTTGTGTG	0.507																																						dbGAP											0													59.0	62.0	61.0					9																	100127901		692	1591	2283	-	-	-	SO:0001627	intron_variant	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.3948-54A>C	9.37:g.100127901A>C			Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	RNA	SNP	-	NULL	ENST00000357054.1	37	NULL		9																																																																																			C9orf174	-	-	ENSG00000197816		0.507	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		138	0.00	0	A	NM_020893		100127901	100127901	+1	no_errors	ENST00000483504	ensembl	human	known	69_37n	rna	78	21.78	22	SNP	0.000	C
C9orf106	414318	genome.wustl.edu	37	9	132084262	132084262	+	RNA	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:132084262C>T	ENST00000316786.1	+	0	223							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				agtgcctcttcctctgggaag	0.612																																						dbGAP											0													66.0	67.0	66.0					9																	132084262		1935	4074	6009	-	-	-			0			AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084262C>T				RNA	SNP	-	NULL	ENST00000316786.1	37	NULL		9																																																																																			C9orf106	-	-	ENSG00000179082		0.612	C9orf106-001	KNOWN	basic	processed_transcript	C9orf106	HGNC	processed_transcript	OTTHUMT00000054576.2	226	0.44	1	C			132084262	132084262	+1	no_errors	ENST00000316786	ensembl	human	known	69_37n	rna	16	74.60	47	SNP	0.004	T
CA5B	11238	genome.wustl.edu	37	X	15800681	15800682	+	Missense_Mutation	DNP	CC	CC	AT	rs187583957		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:15800681_15800682CC>AT	ENST00000318636.3	+	8	984_985	c.848_849CC>AT	c.(847-849)cCC>cAT	p.P283H	CA5B_ENST00000454127.2_Missense_Mutation_p.P283H	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					AACTTCCGCCCCCTTCAGCCAC	0.485																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	Exception_encountered	X.37:g.15800681_15800682delinsAT	ENSP00000314099:p.Pro283His		A6NEZ4	Missense_Mutation|Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.P283H|p.P283	ENST00000318636.3	37	c.848|c.849	CCDS14171.1	X																																																																																			CA5B	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000169239		0.485	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CA5B	HGNC	protein_coding	OTTHUMT00000354933.1	207|206	0.00	0	C	NM_007220		15800681|15800682	15800681|15800682	+1	no_errors	ENST00000318636	ensembl	human	known	69_37n	missense|silent	155|156	12.29|11.36	22|20	SNP	0.990|0.825	A|T
CACNA1C	775	genome.wustl.edu	37	12	2774053	2774053	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:2774053C>T	ENST00000347598.4	+	37	4439	c.4439C>T	c.(4438-4440)gCc>gTc	p.A1480V	CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1432V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1452V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1432V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1460V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1421V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1432V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1449V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1419V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1432V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1421V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1432V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1432V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1457V|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1432V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1454V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1432V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1432V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1432V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1432V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1432V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1432V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1480	Dihydropyridine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGAAGTGTGCCCCAGAGTCC	0.602																																						dbGAP											0													40.0	44.0	42.0					12																	2774053		2190	4299	6489	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4439C>T	12.37:g.2774053C>T	ENSP00000266376:p.Ala1480Val		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.A1432V	ENST00000347598.4	37	c.4295	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822566	0.50739	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96136	-3.84;-3.84;-3.84;-3.83;-3.85;-3.86;-3.75;-3.8;-3.84;-3.76;-3.76;-3.84;-3.88;-3.76;-3.68;-3.92;-3.85;-3.85;-3.87;-3.78;-3.87;-3.91	4.07	4.07	0.47477	Ion transport (1);	0.116551	0.64402	D	0.000019	D	0.93003	0.7773	N	0.04355	-0.22	0.44110	D	0.996887	P;D;P;P;P;B;P;B;B;B;B;P;B;P;P;P;P;B;P;B;P;P;P;P;P	0.69078	0.827;0.997;0.683;0.737;0.721;0.399;0.683;0.399;0.266;0.024;0.399;0.683;0.048;0.628;0.492;0.453;0.867;0.007;0.548;0.061;0.683;0.548;0.548;0.548;0.683	P;D;B;B;P;B;B;B;B;B;B;B;B;B;B;P;P;B;B;B;B;B;B;B;B	0.66979	0.552;0.948;0.354;0.305;0.512;0.354;0.354;0.419;0.403;0.03;0.354;0.354;0.052;0.419;0.305;0.555;0.461;0.018;0.354;0.113;0.264;0.354;0.354;0.354;0.264	D	0.93933	0.7216	10	0.87932	D	0	.	11.9193	0.52783	0.2196:0.7804:0.0:0.0	.	123;1454;1429;1480;1432;1432;1432;1449;1460;1432;1452;1432;1392;1480;1432;1432;1432;1421;1419;1421;1421;1432;1432;1432;1432	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	1457;1432;1432;1460;1432;1432;1432;1421;1432;1480;1452;1432;1454;1449;1432;1419;1432;1432;1432;1432;1432;1421;1262	ENSP00000336982:A1457V;ENSP00000382563:A1432V;ENSP00000382552:A1432V;ENSP00000382547:A1460V;ENSP00000382506:A1432V;ENSP00000382530:A1432V;ENSP00000382546:A1432V;ENSP00000382500:A1421V;ENSP00000382549:A1432V;ENSP00000266376:A1480V;ENSP00000382515:A1452V;ENSP00000382510:A1432V;ENSP00000341092:A1454V;ENSP00000382537:A1449V;ENSP00000329877:A1432V;ENSP00000382557:A1419V;ENSP00000385724:A1432V;ENSP00000382512:A1432V;ENSP00000382542:A1432V;ENSP00000382526:A1432V;ENSP00000385896:A1432V;ENSP00000382504:A1421V	ENSP00000323129:A1262V	A	+	2	0	CACNA1C	2644314	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	4.320000	0.59203	2.264000	0.75181	0.561000	0.74099	GCC	CACNA1C	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_L_a1csu	ENSG00000151067		0.602	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	79	0.00	0	C	NM_000719		2774053	2774053	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	74	23.71	23	SNP	1.000	T
CACNA1D	776	genome.wustl.edu	37	3	53758015	53758015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:53758015delA	ENST00000350061.5	+	14	2600	c.2089delA	c.(2089-2091)acafs	p.T697fs	CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.T697fs|CACNA1D_ENST00000288139.4_Frame_Shift_Del_p.T717fs	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	697					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCACTTCTCACAGTGTTCCA	0.493																																						dbGAP											0													81.0	79.0	80.0					3																	53758015		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2089delA	3.37:g.53758015delA	ENSP00000288133:p.Thr697fs		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.T717fs	ENST00000350061.5	37	c.2149	CCDS46848.1	3																																																																																			CACNA1D	-	pfam_Ion_trans_dom,prints_VDCCAlpha1	ENSG00000157388		0.493	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	222	0.00	0	A	NM_000720		53758015	53758015	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	frame_shift_del	99	15.83	19	DEL	1.000	-
CACNA1D	776	genome.wustl.edu	37	3	53758019	53758019	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:53758019T>A	ENST00000350061.5	+	14	2604	c.2093T>A	c.(2092-2094)gTg>gAg	p.V698E	CACNA1D_ENST00000422281.2_Missense_Mutation_p.V698E|CACNA1D_ENST00000288139.4_Missense_Mutation_p.V718E	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	698					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCTCACAGTGTTCCAGGTG	0.493																																						dbGAP											0													78.0	76.0	76.0					3																	53758019		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2093T>A	3.37:g.53758019T>A	ENSP00000288133:p.Val698Glu		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.V718E	ENST00000350061.5	37	c.2153	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172883	0.78452	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99152	0.9707	H	0.98525	4.255	0.80722	D	1	D;D;D;D	0.89917	0.99;0.999;1.0;0.973	P;D;D;P	0.87578	0.906;0.991;0.998;0.802	D	0.98962	1.0798	10	0.87932	D	0	.	16.0816	0.81007	0.0:0.0:0.0:1.0	.	698;391;698;718	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	E	698;718;698;391	ENSP00000288133:V698E;ENSP00000288139:V718E;ENSP00000409174:V698E;ENSP00000418014:V391E	ENSP00000288139:V718E	V	+	2	0	CACNA1D	53733059	1.000000	0.71417	0.359000	0.25824	0.613000	0.37349	8.040000	0.89188	2.202000	0.70862	0.477000	0.44152	GTG	CACNA1D	-	pfam_Ion_trans_dom,prints_VDCCAlpha1	ENSG00000157388		0.493	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	211	0.00	0	T	NM_000720		53758019	53758019	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	missense	97	15.52	18	SNP	1.000	A
CACNA1G	8913	genome.wustl.edu	37	17	48683490	48683490	+	Intron	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:48683490G>A	ENST00000359106.5	+	23	4422				CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000416767.4_Missense_Mutation_p.E1510K|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000514717.1_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCCACGAAGAGATCAGCCC	0.617																																						dbGAP											0													41.0	48.0	45.0					17																	48683490		2201	4300	6501	-	-	-	SO:0001627	intron_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4422+106G>A	17.37:g.48683490G>A			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,prints_VDCC_T_a1su	p.E1510K	ENST00000359106.5	37	c.4528	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	8.266	0.812213	0.16537	.	.	ENSG00000006283	ENST00000416767	D	0.96913	-4.17	2.89	1.87	0.25490	.	.	.	.	.	D	0.93284	0.7860	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.86298	0.1678	5	.	.	.	.	7.0244	0.24932	0.0:0.0:0.7292:0.2708	.	.	.	.	K	1510	ENSP00000392390:E1510K	.	E	+	1	0	CACNA1G	46038489	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	0.205000	0.17356	0.736000	0.32559	0.655000	0.94253	GAG	CACNA1G	-	NULL	ENSG00000006283		0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	48	0.00	0	G	NM_018896		48683490	48683490	+1	no_errors	ENST00000416767	ensembl	human	putative	69_37n	missense	31	13.89	5	SNP	0.002	A
CACNA1G	8913	genome.wustl.edu	37	17	48683516	48683516	+	Intron	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:48683516G>A	ENST00000359106.5	+	23	4422				CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000416767.4_Silent_p.L1518L|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000514717.1_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCCTCTGCTGTCTAACCACC	0.577																																						dbGAP											0													31.0	37.0	35.0					17																	48683516		2201	4298	6499	-	-	-	SO:0001627	intron_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4422+132G>A	17.37:g.48683516G>A			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,prints_VDCC_T_a1su	p.L1518	ENST00000359106.5	37	c.4554	CCDS45730.1	17																																																																																			CACNA1G	-	NULL	ENSG00000006283		0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	41	0.00	0	G	NM_018896		48683516	48683516	+1	no_errors	ENST00000416767	ensembl	human	putative	69_37n	silent	30	14.29	5	SNP	0.005	A
CAMK2G	818	genome.wustl.edu	37	10	75620617	75620617	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:75620617A>G	ENST00000351293.3	-	3	248	c.191T>C	c.(190-192)aTa>aCa	p.I64T	CAMK2G_ENST00000322635.3_Missense_Mutation_p.I64T|CAMK2G_ENST00000423381.1_Missense_Mutation_p.I64T|CAMK2G_ENST00000372765.1_Missense_Mutation_p.I64T|CAMK2G_ENST00000444854.2_Missense_Mutation_p.I64T|CAMK2G_ENST00000394762.2_Missense_Mutation_p.I64T|CAMK2G_ENST00000322680.3_Missense_Mutation_p.I64T|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Missense_Mutation_p.I64T	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	64	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	AAGTCGACATATCCGAGCCTC	0.423																																						dbGAP											0													168.0	157.0	161.0					10																	75620617		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.191T>C	10.37:g.75620617A>G	ENSP00000277853:p.Ile64Thr		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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.I64T	ENST00000351293.3	37	c.191	CCDS7336.1	10	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647597	0.87958	.	.	ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000305762;ENST00000372765;ENST00000444854	T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	6.08	6.08	0.98989	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	0.82019	0.4946	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.996;0.999;0.987;0.989;0.995;1.0;0.998;1.0	D;D;D;P;D;D;D;D	0.87578	0.987;0.996;0.948;0.897;0.957;0.997;0.977;0.998	D	0.84202	0.0451	10	0.87932	D	0	.	14.8736	0.70478	1.0:0.0:0.0:0.0	.	56;64;64;64;64;64;64;64	B3KY86;Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8	.;.;.;.;.;KCC2G_HUMAN;.;.	T	64	ENSP00000277853:I64T;ENSP00000315599:I64T;ENSP00000410298:I64T;ENSP00000319060:I64T;ENSP00000378243:I64T;ENSP00000307082:I64T;ENSP00000361851:I64T;ENSP00000399680:I64T	ENSP00000307082:I64T	I	-	2	0	CAMK2G	75290623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.677000	0.84024	2.333000	0.79357	0.533000	0.62120	ATA	CAMK2G	-	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	ENSG00000148660		0.423	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2G	HGNC	protein_coding	OTTHUMT00000048715.1	301	0.33	1	A	NM_172169		75620617	75620617	-1	no_errors	ENST00000423381	ensembl	human	known	69_37n	missense	119	37.17	71	SNP	1.000	G
CAMTA2	23125	genome.wustl.edu	37	17	4875737	4875738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:4875737_4875738insG	ENST00000348066.3	-	16	2720_2721	c.2597_2598insC	c.(2596-2598)cctfs	p.P866fs	RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.P866fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.P868fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.P871fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.P889fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.P865fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAGGTGCAGGGGGGGGACT	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2598dupC	17.37:g.4875745_4875745dupG	ENSP00000321813:p.Pro866fs		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.A890fs	ENST00000348066.3	37	c.2667_2666	CCDS11063.1	17																																																																																			CAMTA2	-	NULL	ENSG00000108509		0.614	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	39	0.00	0	-	NM_015099		4875737	4875738	-1	no_errors	ENST00000414043	ensembl	human	known	69_37n	frame_shift_ins	47	12.96	7	INS	0.999:1.000	G
CAPN1	823	genome.wustl.edu	37	11	64975690	64975690	+	Missense_Mutation	SNP	C	C	A	rs553788153		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:64975690C>A	ENST00000527323.1	+	15	1926	c.1686C>A	c.(1684-1686)agC>agA	p.S562R	CAPN1_ENST00000533820.1_Missense_Mutation_p.S562R|CAPN1_ENST00000533129.1_Missense_Mutation_p.S562R|CAPN1_ENST00000279247.6_Missense_Mutation_p.S562R|CAPN1_ENST00000524773.1_Missense_Mutation_p.S562R			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	562	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TGGAGATCAGCGTGAAGGAGT	0.607																																						dbGAP											0													37.0	46.0	43.0					11																	64975690		2181	4278	6459	-	-	-	SO:0001583	missense	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1686C>A	11.37:g.64975690C>A	ENSP00000431984:p.Ser562Arg		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.S562R	ENST00000527323.1	37	c.1686	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920416	0.52653	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	5.03	-2.34	0.06704	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	M	0.93375	3.41	0.41685	D	0.989316	D	0.76494	0.999	D	0.80764	0.994	D	0.88921	0.3366	10	0.72032	D	0.01	.	10.7254	0.46066	0.0:0.4311:0.0:0.5689	.	562	P07384	CAN1_HUMAN	R	562;562;562;562;508;562	ENSP00000435272:S562R;ENSP00000431686:S562R;ENSP00000434176:S562R;ENSP00000279247:S562R;ENSP00000431984:S562R	ENSP00000259755:S508R	S	+	3	2	CAPN1	64732266	0.001000	0.12720	0.950000	0.38849	0.736000	0.42039	-1.435000	0.02423	-0.306000	0.08818	-0.672000	0.03802	AGC	CAPN1	-	NULL	ENSG00000014216		0.607	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	110	0.00	0	C			64975690	64975690	+1	no_errors	ENST00000279247	ensembl	human	known	69_37n	missense	46	47.73	42	SNP	0.286	A
CAPN8	388743	genome.wustl.edu	37	1	223717545	223717545	+	Splice_Site	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:223717545C>A	ENST00000366872.5	-	18	1846	c.1847G>T	c.(1846-1848)gGt>gTt	p.G616V				A6NHC0	CAN8_HUMAN	calpain 8	638	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)	4						GAGGGTGAAACCTGAGGGCAG	0.582																																						dbGAP											0													83.0	74.0	77.0					1																	223717545		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0				CCDS73038.1	1q41	2013-01-10	2007-02-21		ENSG00000203697	ENSG00000203697		"""EF-hand domain containing"""	1485	protein-coding gene	gene with protein product			"""calpain 8 (nCL-2)"""			7690035, 8889549	Standard	NM_001143962		Approved	nCL-2	uc009xee.2	A6NHC0	OTTHUMG00000037378	ENST00000366872.5:c.1847-1G>T	1.37:g.223717545C>A			B2RXL2	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.G616V	ENST00000366872.5	37	c.1847		1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509884	0.85282	.	.	ENSG00000203697	ENST00000430824;ENST00000366872	D;D	0.96774	-4.12;-4.12	5.2	5.2	0.72013	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98937	0.9639	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99490	1.0950	10	0.87932	D	0	.	17.5628	0.87911	0.0:1.0:0.0:0.0	.	638	A6NHC0	CAN8_HUMAN	V	91;616	ENSP00000390294:G91V;ENSP00000355837:G616V	ENSP00000355837:G616V	G	-	2	0	CAPN8	221784168	1.000000	0.71417	0.974000	0.42286	0.954000	0.61252	6.668000	0.74457	2.432000	0.82394	0.558000	0.71614	GGT	CAPN8	-	NULL	ENSG00000203697		0.582	CAPN8-201	KNOWN	basic|appris_principal	protein_coding	CAPN8	HGNC	protein_coding		83	0.00	0	C	NM_001143962	Missense_Mutation	223717545	223717545	-1	no_errors	ENST00000366872	ensembl	human	known	69_37n	missense	147	15.03	26	SNP	1.000	A
CARD10	29775	genome.wustl.edu	37	22	37906381	37906381	+	Silent	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:37906381T>A	ENST00000403299.1	-	5	963	c.747A>T	c.(745-747)gcA>gcT	p.A249A	CARD10_ENST00000494166.1_5'UTR|CARD10_ENST00000406271.3_5'Flank|CARD10_ENST00000251973.5_Silent_p.A249A			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	249					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TTCGAAGCAGTGCACACTCTT	0.612																																						dbGAP											0													39.0	38.0	38.0					22																	37906381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.747A>T	22.37:g.37906381T>A			Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.A249	ENST00000403299.1	37	c.747	CCDS13948.1	22																																																																																			CARD10	-	NULL	ENSG00000100065		0.612	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	54	0.00	0	T	NM_014550		37906381	37906381	-1	no_errors	ENST00000251973	ensembl	human	known	69_37n	silent	29	34.09	15	SNP	0.001	A
CARD10	29775	genome.wustl.edu	37	22	37906383	37906384	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:37906383_37906384insA	ENST00000403299.1	-	5	960_961	c.744_745insT	c.(742-747)tgtgcafs	p.A249fs	CARD10_ENST00000494166.1_5'UTR|CARD10_ENST00000406271.3_5'Flank|CARD10_ENST00000251973.5_Frame_Shift_Ins_p.A249fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	249					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CGAAGCAGTGCACACTCTTCCT	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.745dupT	22.37:g.37906384_37906384dupA	ENSP00000384570:p.Ala249fs		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Frame_Shift_Ins	INS	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.A248fs	ENST00000403299.1	37	c.745_744	CCDS13948.1	22																																																																																			CARD10	-	NULL	ENSG00000100065		0.599	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	52	0.00	0	-	NM_014550		37906383	37906384	-1	no_errors	ENST00000251973	ensembl	human	known	69_37n	frame_shift_ins	28	34.88	15	INS	0.000:0.023	A
CARD10	29775	genome.wustl.edu	37	22	37906385	37906385	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:37906385C>G	ENST00000403299.1	-	5	959	c.743G>C	c.(742-744)tGt>tCt	p.C248S	CARD10_ENST00000494166.1_5'UTR|CARD10_ENST00000406271.3_5'Flank|CARD10_ENST00000251973.5_Missense_Mutation_p.C248S			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	248					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AAGCAGTGCACACTCTTCCTC	0.602																																						dbGAP											0													40.0	38.0	39.0					22																	37906385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.743G>C	22.37:g.37906385C>G	ENSP00000384570:p.Cys248Ser		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.C248S	ENST00000403299.1	37	c.743	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211066	0.58343	.	.	ENSG00000100065	ENST00000403299;ENST00000251973	T;T	0.34472	1.36;1.36	4.71	4.71	0.59529	.	0.398080	0.26311	N	0.025110	T	0.54854	0.1884	L	0.53561	1.675	0.44736	D	0.997732	D	0.76494	0.999	D	0.78314	0.991	T	0.54430	-0.8295	10	0.45353	T	0.12	-16.1117	15.827	0.78718	0.0:1.0:0.0:0.0	.	248	Q9BWT7	CAR10_HUMAN	S	248	ENSP00000384570:C248S;ENSP00000251973:C248S	ENSP00000251973:C248S	C	-	2	0	CARD10	36236331	0.997000	0.39634	0.909000	0.35828	0.854000	0.48673	3.740000	0.55082	2.153000	0.67306	0.655000	0.94253	TGT	CARD10	-	NULL	ENSG00000100065		0.602	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	54	0.00	0	C	NM_014550		37906385	37906385	-1	no_errors	ENST00000251973	ensembl	human	known	69_37n	missense	30	33.33	15	SNP	0.998	G
CARD14	79092	genome.wustl.edu	37	17	78157893	78157893	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:78157893C>G	ENST00000573882.1	+	6	1067	c.531C>G	c.(529-531)caC>caG	p.H177Q	CARD14_ENST00000392434.2_5'Flank|CARD14_ENST00000570421.1_Missense_Mutation_p.H177Q|CARD14_ENST00000344227.2_Missense_Mutation_p.H177Q			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	177					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGGCTGACCACAGCCGCATGA	0.652																																						dbGAP											0													26.0	21.0	23.0					17																	78157893		2193	4290	6483	-	-	-	SO:0001583	missense	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.531C>G	17.37:g.78157893C>G	ENSP00000458715:p.His177Gln		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin	p.H177Q	ENST00000573882.1	37	c.531	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910515	0.52439	.	.	ENSG00000141527	ENST00000344227	T	0.33865	1.39	3.58	1.46	0.22682	.	0.110782	0.64402	D	0.000015	T	0.49389	0.1554	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.39057	-0.9632	10	0.34782	T	0.22	-28.8762	7.935	0.29925	0.0:0.6912:0.0:0.3088	.	177	Q9BXL6	CAR14_HUMAN	Q	177	ENSP00000344549:H177Q	ENSP00000344549:H177Q	H	+	3	2	CARD14	75772488	0.080000	0.21391	0.995000	0.50966	0.920000	0.55202	0.404000	0.20999	0.616000	0.30141	0.491000	0.48974	CAC	CARD14	-	NULL	ENSG00000141527		0.652	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	13	0.00	0	C			78157893	78157893	+1	no_errors	ENST00000344227	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	0.949	G
CAV2	858	genome.wustl.edu	37	7	116140292	116140292	+	Intron	DEL	T	T	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:116140292delT	ENST00000222693.4	+	2	542				AC002066.1_ENST00000446355.2_RNA|CAV2_ENST00000462876.1_Intron|CAV2_ENST00000393480.2_Intron|CAV2_ENST00000343213.2_Intron	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2						caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			CAGTTCGGGGTCCCTGCGTCC	0.632																																						dbGAP											0													69.0	62.0	64.0					7																	116140292		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.151-22T>-	7.37:g.116140292delT			A4D0U2|Q9UGM7	RNA	DEL	-	NULL	ENST00000222693.4	37	NULL	CCDS5766.1	7																																																																																			CAV2	-	-	ENSG00000105971		0.632	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAV2	HGNC	protein_coding	OTTHUMT00000059735.4	73	0.00	0	T	NM_001233		116140292	116140292	+1	no_errors	ENST00000495841	ensembl	human	known	69_37n	rna	19	56.25	27	DEL	0.001	-
CBX7	23492	genome.wustl.edu	37	22	39534676	39534676	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:39534676T>G	ENST00000216133.5	-	4	416	c.211A>C	c.(211-213)Aag>Cag	p.K71Q	CBX7_ENST00000401405.3_Missense_Mutation_p.K71Q|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	71					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GGACCTCTCTTCCTATACCCC	0.587																																					GBM(46;845 904 3560 9866 23971)	dbGAP											0													178.0	149.0	159.0					22																	39534676		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.211A>C	22.37:g.39534676T>G	ENSP00000216133:p.Lys71Gln		Q86T17	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.K71Q	ENST00000216133.5	37	c.211	CCDS13986.1	22	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327085	0.60743	.	.	ENSG00000100307	ENST00000216133;ENST00000401405;ENST00000434260	T;T	0.33216	1.42;1.42	4.79	4.79	0.61399	.	0.051242	0.85682	D	0.000000	T	0.41351	0.1155	M	0.80332	2.49	0.54753	D	0.99998	B;P	0.52842	0.246;0.956	B;B	0.44315	0.051;0.446	T	0.52786	-0.8529	10	0.66056	D	0.02	.	14.3065	0.66389	0.0:0.0:0.0:1.0	.	71;71	B0QYP2;O95931	.;CBX7_HUMAN	Q	71;71;49	ENSP00000216133:K71Q;ENSP00000384035:K71Q	ENSP00000216133:K71Q	K	-	1	0	CBX7	37864622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.548000	0.73896	1.934000	0.56057	0.448000	0.29417	AAG	CBX7	-	NULL	ENSG00000100307		0.587	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX7	HGNC	protein_coding	OTTHUMT00000318020.1	197	0.00	0	T	NM_175709		39534676	39534676	-1	no_errors	ENST00000216133	ensembl	human	known	69_37n	missense	71	10.13	8	SNP	1.000	G
CCDC39	339829	genome.wustl.edu	37	3	180369311	180369311	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:180369311delT	ENST00000442201.2	-	9	1164	c.1045delA	c.(1045-1047)actfs	p.T349fs	CCDC39_ENST00000273654.4_Frame_Shift_Del_p.T433fs	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	349					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)			TGATTTTTAGTTTTTTGTAAC	0.269																																						dbGAP											0													63.0	52.0	55.0					3																	180369311		1759	3997	5756	-	-	-	SO:0001589	frameshift_variant	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.1045delA	3.37:g.180369311delT	ENSP00000405708:p.Thr349fs		B4E2H1	Frame_Shift_Del	DEL	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.T349fs	ENST00000442201.2	37	c.1045	CCDS46964.1	3																																																																																			CCDC39	-	NULL	ENSG00000145075		0.269	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	355	0.00	0	T	XM_291028		180369311	180369311	-1	no_errors	ENST00000442201	ensembl	human	known	69_37n	frame_shift_del	459	42.96	354	DEL	0.014	-
CCDC88A	55704	genome.wustl.edu	37	2	55522655	55522655	+	Intron	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:55522655C>T	ENST00000436346.1	-	31	6393				CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000336838.6_Intron|CCDC88A_ENST00000263630.8_Intron	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A						activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATAGCTAAATCATTTTGGGCA	0.423																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5551+77G>A	2.37:g.55522655C>T			A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	NULL	p.D1052N	ENST00000436346.1	37	c.3154		2	.	.	.	.	.	.	.	.	.	.	C	3.332	-0.136432	0.06711	.	.	ENSG00000115355	ENST00000426576	T	0.40225	1.04	5.04	-7.18	0.01505	.	.	.	.	.	T	0.22666	0.0547	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27020	-1.0086	6	0.38643	T	0.18	.	0.2516	0.00206	0.2647:0.2839:0.1729:0.2786	.	.	.	.	N	1052	ENSP00000405080:D1052N	ENSP00000405080:D1052N	D	-	1	0	CCDC88A	55376159	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.402000	0.07223	-1.400000	0.02061	-1.935000	0.00506	GAT	CCDC88A	-	NULL	ENSG00000115355		0.423	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		66	0.00	0	C	NM_017571		55522655	55522655	-1	no_start_codon	ENST00000426576	ensembl	human	putative	69_37n	missense	36	23.40	11	SNP	0.000	T
CCR9	10803	genome.wustl.edu	37	3	45942991	45942991	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:45942991C>T	ENST00000357632.2	+	3	891	c.711C>T	c.(709-711)atC>atT	p.I237I	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.I225I|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Silent_p.I225I	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	237					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ATACCATCATCATTCACACCC	0.488																																						dbGAP											0													194.0	165.0	175.0					3																	45942991		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.711C>T	3.37:g.45942991C>T			Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4,pfscan_GPCR_Rhodpsn_supfam	p.I237	ENST00000357632.2	37	c.711	CCDS2732.1	3																																																																																			CCR9	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000173585		0.488	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2	350	0.00	0	C			45942991	45942991	+1	no_errors	ENST00000357632	ensembl	human	known	69_37n	silent	278	46.03	238	SNP	1.000	T
CCR9	10803	genome.wustl.edu	37	3	45942995	45942995	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:45942995C>T	ENST00000357632.2	+	3	895	c.715C>T	c.(715-717)Cac>Tac	p.H239Y	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.H227Y|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.H227Y	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	239					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CATCATCATTCACACCCTGAT	0.483																																						dbGAP											0													192.0	163.0	173.0					3																	45942995		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.715C>T	3.37:g.45942995C>T	ENSP00000350256:p.His239Tyr		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4,pfscan_GPCR_Rhodpsn_supfam	p.H239Y	ENST00000357632.2	37	c.715	CCDS2732.1	3	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005495	0.35415	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.36157	1.27;1.27;1.27	4.96	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.327720	0.33075	N	0.005308	T	0.23766	0.0575	N	0.25992	0.78	0.36139	D	0.84669	B	0.06786	0.001	B	0.10450	0.005	T	0.14924	-1.0455	10	0.54805	T	0.06	.	7.8566	0.29485	0.129:0.7268:0.0:0.1442	.	239	P51686	CCR9_HUMAN	Y	239;227;227	ENSP00000350256:H239Y;ENSP00000379292:H227Y;ENSP00000348260:H227Y	ENSP00000348260:H227Y	H	+	1	0	CCR9	45917999	0.666000	0.27475	0.959000	0.39883	0.958000	0.62258	1.652000	0.37313	1.077000	0.40990	0.563000	0.77884	CAC	CCR9	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_ATII_rcpt,prints_Chemokine_CXCR4,pfscan_GPCR_Rhodpsn_supfam	ENSG00000173585		0.483	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2	356	0.84	3	C			45942995	45942995	+1	no_errors	ENST00000357632	ensembl	human	known	69_37n	missense	282	46.29	243	SNP	0.998	T
CDC42BPG	55561	genome.wustl.edu	37	11	64600123	64600123	+	Silent	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:64600123C>G	ENST00000342711.5	-	26	2957	c.2958G>C	c.(2956-2958)ctG>ctC	p.L986L	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GGCTGAGCCTCAGGTCAGGGG	0.687																																						dbGAP											0													35.0	43.0	40.0					11																	64600123		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2958G>C	11.37:g.64600123C>G				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L986	ENST00000342711.5	37	c.2958	CCDS31601.1	11																																																																																			CDC42BPG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000171219		0.687	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	57	0.00	0	C	XM_290516		64600123	64600123	-1	no_errors	ENST00000342711	ensembl	human	known	69_37n	silent	22	21.43	6	SNP	0.015	G
CDC42EP1	11135	genome.wustl.edu	37	22	37962638	37962639	+	Frame_Shift_Ins	INS	-	-	C	rs150186371		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:37962638_37962639insC	ENST00000249014.4	+	2	702_703	c.282_283insC	c.(283-285)cccfs	p.P95fs		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	95					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GGGTGGGGGCGCCCCCCCGGAG	0.693																																						dbGAP											0										16,4230		0,16,2107						-9.9	0.0			29	14,8214		0,14,4100	no	frameshift	CDC42EP1	NM_152243.2		0,30,6207	A1A1,A1R,RR		0.1702,0.3768,0.2405				30,12444				-	-	-	SO:0001589	frameshift_variant	0			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.289dupC	22.37:g.37962645_37962645dupC	ENSP00000249014:p.Pro95fs		A8K825|Q96GN1	Frame_Shift_Ins	INS	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.R96fs	ENST00000249014.4	37	c.282_283	CCDS13949.1	22																																																																																			CDC42EP1	-	NULL	ENSG00000128283		0.693	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	72	0.00	0	-	NM_152243		37962638	37962639	+1	no_errors	ENST00000249014	ensembl	human	known	69_37n	frame_shift_ins	44	10.20	5	INS	0.000:0.001	C
CDH16	1014	genome.wustl.edu	37	16	66945978	66945978	+	Silent	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:66945978C>A	ENST00000299752.4	-	13	1807	c.1614G>T	c.(1612-1614)ctG>ctT	p.L538L	CDH16_ENST00000394055.3_Silent_p.L538L|CDH16_ENST00000565796.1_Silent_p.L538L|CDH16_ENST00000570262.1_Silent_p.L458L|CDH16_ENST00000568632.1_Silent_p.L441L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CTGGCCCCACCAGCTTCGCCA	0.637																																						dbGAP											0													56.0	53.0	54.0					16																	66945978		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1614G>T	16.37:g.66945978C>A			B4DPA8|H3BPD3|Q6UW93	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L538	ENST00000299752.4	37	c.1614	CCDS10823.1	16																																																																																			CDH16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166589		0.637	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH16	HGNC	protein_coding	OTTHUMT00000268839.2	83	0.00	0	C	NM_004062		66945978	66945978	-1	no_errors	ENST00000299752	ensembl	human	known	69_37n	silent	28	24.32	9	SNP	0.986	A
CDKN2AIP	55602	genome.wustl.edu	37	4	184367244	184367244	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:184367244G>T	ENST00000504169.1	+	3	614	c.407G>T	c.(406-408)gGg>gTg	p.G136V	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.G126W	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	136					negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTTTTAGAAGGGGTAGAAGAG	0.373																																						dbGAP											0													56.0	62.0	60.0					4																	184367244		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.407G>T	4.37:g.184367244G>T	ENSP00000427108:p.Gly136Val		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	pfam_DUF3469,pfscan_Ds-RNA-bd	p.G136V	ENST00000504169.1	37	c.407	CCDS34110.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.451538|4.451538	0.84209|0.84209	.|.	.|.	ENSG00000168564|ENSG00000168564	ENST00000504169|ENST00000302350	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000003|0.000003	T|T	0.60508|0.60508	0.2274|0.2274	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.63959|0.63959	-0.6519|-0.6519	9|7	0.87932|0.87932	D|D	0|0	-11.444|-11.444	18.8158|18.8158	0.92076|0.92076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	136|.	Q9NXV6|.	CARF_HUMAN|.	V|W	136|126	.|.	ENSP00000427108:G136V|ENSP00000303788:G126W	G|G	+|+	2|1	0|0	CDKN2AIP|CDKN2AIP	184604238|184604238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.134000|6.134000	0.71689|0.71689	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GGG|GGG	CDKN2AIP	-	NULL	ENSG00000168564		0.373	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2AIP	HGNC	protein_coding	OTTHUMT00000361488.1	59	0.00	0	G	NM_017632		184367244	184367244	+1	no_errors	ENST00000504169	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	T
CDKN2AIP	55602	genome.wustl.edu	37	4	184368038	184368038	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:184368038A>G	ENST00000504169.1	+	3	1408	c.1201A>G	c.(1201-1203)Agt>Ggt	p.S401G	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	401	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTCTAAGAGTAGTTCTCAGAC	0.443																																						dbGAP											0													82.0	79.0	80.0					4																	184368038		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1201A>G	4.37:g.184368038A>G	ENSP00000427108:p.Ser401Gly		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	pfam_DUF3469,pfscan_Ds-RNA-bd	p.S401G	ENST00000504169.1	37	c.1201	CCDS34110.1	4	.	.	.	.	.	.	.	.	.	.	A	11.04	1.520829	0.27211	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.48	2.91	0.33838	.	0.198976	0.45361	N	0.000379	T	0.43700	0.1259	L	0.55481	1.735	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23226	-1.0194	9	0.18276	T	0.48	-4.0527	3.8361	0.08894	0.6172:0.0:0.2293:0.1535	.	401	Q9NXV6	CARF_HUMAN	G	401	.	ENSP00000427108:S401G	S	+	1	0	CDKN2AIP	184605032	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.970000	0.29383	1.054000	0.40438	0.528000	0.53228	AGT	CDKN2AIP	-	NULL	ENSG00000168564		0.443	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2AIP	HGNC	protein_coding	OTTHUMT00000361488.1	106	0.00	0	A	NM_017632		184368038	184368038	+1	no_errors	ENST00000504169	ensembl	human	known	69_37n	missense	20	41.18	14	SNP	0.998	G
CDX2	1045	genome.wustl.edu	37	13	28537277	28537278	+	Frame_Shift_Ins	INS	-	-	C	rs142861632		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr13:28537277_28537278insC	ENST00000381020.7	-	3	3048_3049	c.916_917insG	c.(916-918)gtgfs	p.V306fs	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	306					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGGGTTTAGCACCCCCCCAGTT	0.629			T	ETV6	AML																																	dbGAP		Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.917dupG	13.37:g.28537284_28537284dupC	ENSP00000370408:p.Val306fs		O00503|Q5VTU7|Q969L8|Q9UD92	Frame_Shift_Ins	INS	pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.V306fs	ENST00000381020.7	37	c.917_916	CCDS9328.1	13																																																																																			CDX2	-	NULL	ENSG00000165556		0.629	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX2	HGNC	protein_coding	OTTHUMT00000044312.5	95	0.00	0	-			28537277	28537278	-1	no_errors	ENST00000381020	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	0.999:0.992	C
CELSR2	1952	genome.wustl.edu	37	1	109795431	109795431	+	Silent	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:109795431T>A	ENST00000271332.3	+	1	2791	c.2730T>A	c.(2728-2730)acT>acA	p.T910T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	910	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)		TGACAGTCACTGTGTTGGATG	0.562																																					NSCLC(158;1285 2011 34800 34852 42084)	dbGAP											0													84.0	81.0	82.0					1																	109795431		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.2730T>A	1.37:g.109795431T>A			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.T910	ENST00000271332.3	37	c.2730	CCDS796.1	1																																																																																			CELSR2	-	pfam_Cadherin,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	103	0.00	0	T	NM_001408		109795431	109795431	+1	no_errors	ENST00000271332	ensembl	human	known	69_37n	silent	16	52.78	19	SNP	0.904	A
CELSR2	1952	genome.wustl.edu	37	1	109795768	109795768	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:109795768C>T	ENST00000271332.3	+	1	3128	c.3067C>T	c.(3067-3069)Ctg>Ttg	p.L1023L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1023	Cadherin 8. {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)		CCCACCAGTGCTGGGCAACTT	0.577																																					NSCLC(158;1285 2011 34800 34852 42084)	dbGAP											0													86.0	84.0	85.0					1																	109795768		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.3067C>T	1.37:g.109795768C>T			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.L1023	ENST00000271332.3	37	c.3067	CCDS796.1	1																																																																																			CELSR2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000143126		0.577	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	63	0.00	0	C	NM_001408		109795768	109795768	+1	no_errors	ENST00000271332	ensembl	human	known	69_37n	silent	11	92.86	143	SNP	1.000	T
CERCAM	51148	genome.wustl.edu	37	9	131198057	131198059	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	CAT	CAT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:131198057_131198059delCAT	ENST00000372838.4	+	12	2059_2061	c.1661_1663delCAT	c.(1660-1665)ccatgg>cgg	p.554_555PW>R	CERCAM_ENST00000372842.1_In_Frame_Del_p.476_477PW>R	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	554					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						ACATCCTCTCCATGGGATGATGA	0.685																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1661_1663delCAT	9.37:g.131198057_131198059delCAT	ENSP00000361929:p.Pro554_Trp555delinsArg		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	In_Frame_Del	DEL	pfam_Glyco_trans_25	p.PW554in_frame_delR	ENST00000372838.4	37	c.1661_1663	CCDS6901.2	9																																																																																			CERCAM	-	NULL	ENSG00000167123		0.685	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	23	0.00	0	CAT	NM_016174		131198057	131198059	+1	no_errors	ENST00000372838	ensembl	human	known	69_37n	in_frame_del	15	36.00	9	DEL	0.024:0.022:0.997	-
CERS4	79603	genome.wustl.edu	37	19	8326948	8326949	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:8326948_8326949insT	ENST00000251363.5	+	12	1440_1441	c.1140_1141insT	c.(1141-1143)cggfs	p.R381fs	CERS4_ENST00000559450.1_Frame_Shift_Ins_p.R381fs|CERS4_ENST00000559336.1_Frame_Shift_Ins_p.R293fs|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000558331.1_Frame_Shift_Ins_p.R330fs	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	381					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GCCCTCGGAGCCGGGTGGCCGG	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	Exception_encountered	19.37:g.8326948_8326949insT	ENSP00000251363:p.Arg381fs		D6W665	Frame_Shift_Ins	INS	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.R380fs	ENST00000251363.5	37	c.1140_1141	CCDS12197.1	19																																																																																			CERS4	-	NULL	ENSG00000090661		0.683	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS4	HGNC	protein_coding	OTTHUMT00000419200.1	9	0.00	0	-	NM_024552		8326948	8326949	+1	no_errors	ENST00000251363	ensembl	human	known	69_37n	frame_shift_ins	13	40.91	9	INS	0.064:0.065	T
CHD4	1108	genome.wustl.edu	37	12	6707089	6707089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:6707089C>T	ENST00000357008.2	-	12	2026	c.1863G>A	c.(1861-1863)tgG>tgA	p.W621*	CHD4_ENST00000309577.6_Nonsense_Mutation_p.W621*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W614*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.W618*	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	621					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGATCATCATCCACTCGGGTT	0.507																																					Colon(32;586 792 4568 16848 45314)	dbGAP											0													160.0	160.0	160.0					12																	6707089		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1863G>A	12.37:g.6707089C>T	ENSP00000349508:p.Trp621*		Q8IXZ5	Nonsense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.W621*	ENST00000357008.2	37	c.1863	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.525599	0.98850	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	3.98	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0368	16.2686	0.82603	0.0:1.0:0.0:0.0	.	.	.	.	X	618;614;621;621;595	.	ENSP00000312419:W621X	W	-	3	0	CHD4	6577350	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.625000	0.83145	2.046000	0.60703	0.467000	0.42956	TGG	CHD4	-	superfamily_Chromodomain-like,smart_Chromo_domain/shadow	ENSG00000111642		0.507	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		87	0.00	0	C	NM_001273		6707089	6707089	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	nonsense	85	62.72	143	SNP	1.000	T
CHI3L1	1116	genome.wustl.edu	37	1	203149664	203149664	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:203149664G>A	ENST00000255409.3	-	8	953	c.828C>T	c.(826-828)gcC>gcT	p.A276A		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	276					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTGAGATTGGGGCTCCAACAC	0.582																																						dbGAP											0													52.0	52.0	52.0					1																	203149664		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.828C>T	1.37:g.203149664G>A			B2R7B0|P30923|Q8IVA4|Q96HI7	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.A276	ENST00000255409.3	37	c.828	CCDS1435.1	1																																																																																			CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000133048		0.582	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	73	0.00	0	G	NM_001276		203149664	203149664	-1	no_errors	ENST00000255409	ensembl	human	known	69_37n	silent	46	22.03	13	SNP	0.988	A
CIC	23152	genome.wustl.edu	37	19	42796882	42796883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:42796882_42796883insC	ENST00000575354.2	+	14	3380_3381	c.3340_3341insC	c.(3340-3342)gccfs	p.A1114fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.A2022fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A1113fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1114	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCATCCCAGGCCCCCCCAAGC	0.683			"""Mis, F, S"""		oligodendroglioma																																	dbGAP		Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3347dupC	19.37:g.42796889_42796889dupC	ENSP00000458663:p.Ala1114fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S1117fs	ENST00000575354.2	37	c.3340_3341	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.683	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	104	0.00	0	-			42796882	42796883	+1	no_errors	ENST00000160740	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	1.000:0.993	C
CLIP2	7461	genome.wustl.edu	37	7	73791030	73791030	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:73791030G>A	ENST00000395060.1	+	9	2299	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	CLIP2_ENST00000361545.5_Missense_Mutation_p.E732K|CLIP2_ENST00000223398.6_Missense_Mutation_p.E767K			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	767						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GTTGGACTACGAGCGGCTGCA	0.617																																						dbGAP											0													26.0	31.0	29.0					7																	73791030		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2299G>A	7.37:g.73791030G>A	ENSP00000378500:p.Glu767Lys		O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.E767K	ENST00000395060.1	37	c.2299	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480685	0.44044	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.59638	0.25;0.27;0.25	4.8	4.8	0.61643	.	0.230978	0.42682	N	0.000665	T	0.39462	0.1079	N	0.20986	0.625	0.39523	D	0.968541	P;B;B	0.43885	0.82;0.007;0.004	B;B;B	0.29942	0.109;0.003;0.001	T	0.48927	-0.8991	10	0.44086	T	0.13	-29.3285	16.4567	0.84019	0.0:0.0:1.0:0.0	.	732;732;767	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	K	767;767;732;767	ENSP00000223398:E767K;ENSP00000355151:E732K;ENSP00000378500:E767K	ENSP00000223398:E767K	E	+	1	0	CLIP2	73428966	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.182000	0.58310	2.216000	0.71823	0.449000	0.29647	GAG	CLIP2	-	NULL	ENSG00000106665		0.617	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	27	0.00	0	G	NM_003388		73791030	73791030	+1	no_errors	ENST00000223398	ensembl	human	known	69_37n	missense	10	58.33	14	SNP	1.000	A
CLVS1	157807	genome.wustl.edu	37	8	62412081	62412081	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:62412081C>G	ENST00000519846.1	+	7	1517	c.1045C>G	c.(1045-1047)Cca>Gca	p.P349A	CLVS1_ENST00000325897.4_Missense_Mutation_p.P349A|CLVS1_ENST00000518858.1_3'UTR|CLVS1_ENST00000518592.1_Missense_Mutation_p.P70A			Q8IUQ0	CLVS1_HUMAN	clavesin 1	349					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAACACCCAGCCACTCCTGGC	0.532																																						dbGAP											0													115.0	91.0	99.0					8																	62412081		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.1045C>G	8.37:g.62412081C>G	ENSP00000428402:p.Pro349Ala		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.P349A	ENST00000519846.1	37	c.1045	CCDS6176.1	8	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960900	0.92791	.	.	ENSG00000177182	ENST00000519846;ENST00000518592;ENST00000325897	D;D	0.86865	-2.18;-2.18	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.89853	0.6835	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.89790	0.3967	10	0.52906	T	0.07	-7.6373	20.1271	0.97986	0.0:1.0:0.0:0.0	.	349	Q8IUQ0	CLVS1_HUMAN	A	349;70;349	ENSP00000428402:P349A;ENSP00000325506:P349A	ENSP00000325506:P349A	P	+	1	0	CLVS1	62574635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.449000	0.60034	2.834000	0.97654	0.650000	0.86243	CCA	CLVS1	-	NULL	ENSG00000177182		0.532	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	HGNC	protein_coding	OTTHUMT00000378323.1	140	0.00	0	C	NM_173519		62412081	62412081	+1	no_errors	ENST00000325897	ensembl	human	known	69_37n	missense	197	23.94	62	SNP	1.000	G
CNTNAP1	8506	genome.wustl.edu	37	17	40840959	40840959	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:40840959G>A	ENST00000264638.4	+	10	1739	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	508	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGGCTGCATGGAGCTGCTCAA	0.587																																						dbGAP											0													138.0	123.0	128.0					17																	40840959		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1522G>A	17.37:g.40840959G>A	ENSP00000264638:p.Glu508Lys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E508K	ENST00000264638.4	37	c.1522	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418461	0.62622	.	.	ENSG00000108797	ENST00000264638	T	0.76709	-1.04	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.083459	0.50627	D	0.000108	T	0.57213	0.2038	N	0.03608	-0.345	0.46149	D	0.998895	B	0.21753	0.06	B	0.23716	0.048	T	0.58381	-0.7646	10	0.49607	T	0.09	.	12.304	0.54891	0.0:0.3171:0.6829:0.0	.	508	P78357	CNTP1_HUMAN	K	508	ENSP00000264638:E508K	ENSP00000264638:E508K	E	+	1	0	CNTNAP1	38094485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.174000	0.71943	2.449000	0.82847	0.561000	0.74099	GAG	CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.587	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	332	0.00	0	G	NM_003632		40840959	40840959	+1	no_errors	ENST00000264638	ensembl	human	known	69_37n	missense	327	26.52	118	SNP	1.000	A
COG8	84342	genome.wustl.edu	37	16	69368617	69368617	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:69368617C>T	ENST00000306875.4	-	3	1334	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D	RP11-343C2.12_ENST00000562949.1_Missense_Mutation_p.G53D|COG8_ENST00000562081.1_Missense_Mutation_p.G407D	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	407					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GTTACTGGTGCCCAGGATGGC	0.562																																						dbGAP											0													80.0	79.0	79.0					16																	69368617		2198	4300	6498	-	-	-	SO:0001583	missense	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.1220G>A	16.37:g.69368617C>T	ENSP00000305459:p.Gly407Asp		Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	pfam_Dor1,superfamily_Cullin_repeat-like_dom,pirsf_COG_su8	p.G407D	ENST00000306875.4	37	c.1220	CCDS10876.1	16	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127582	0.77549	.	.	ENSG00000213380	ENST00000306875	T	0.46063	0.88	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	L	0.46157	1.445	0.58432	D	0.999999	P;P	0.40638	0.725;0.586	B;B	0.35353	0.201;0.146	T	0.16512	-1.0400	10	0.09338	T	0.73	-2.0781	20.5753	0.99366	0.0:1.0:0.0:0.0	.	434;407	B4DYU2;Q96MW5	.;COG8_HUMAN	D	407	ENSP00000305459:G407D	ENSP00000305459:G407D	G	-	2	0	COG8	67926118	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.707000	0.68370	2.868000	0.98415	0.557000	0.71058	GGC	COG8	-	pirsf_COG_su8	ENSG00000213380		0.562	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG8	HGNC	protein_coding	OTTHUMT00000268948.2	112	0.00	0	C	NM_032382		69368617	69368617	-1	no_errors	ENST00000306875	ensembl	human	known	69_37n	missense	85	21.30	23	SNP	1.000	T
COL11A2	1302	genome.wustl.edu	37	6	33152074	33152075	+	Frame_Shift_Ins	INS	-	-	G	rs147527758		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:33152074_33152075insG	ENST00000341947.2	-	8	1193_1194	c.966_967insC	c.(964-969)cccacafs	p.T323fs	COL11A2_ENST00000374713.1_Frame_Shift_Ins_p.T276fs|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000357486.1_Frame_Shift_Ins_p.T302fs|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000374714.1_Frame_Shift_Ins_p.T297fs	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	323	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTCGGCTGTGGGGGGGACCT	0.604																																					Melanoma(1;90 116 3946 5341 17093)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.967dupC	6.37:g.33152081_33152081dupG	ENSP00000339915:p.Thr323fs		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Frame_Shift_Ins	INS	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.T322fs	ENST00000341947.2	37	c.967_966		6																																																																																			COL11A2	-	NULL	ENSG00000204248		0.604	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	COL11A2	HGNC	protein_coding		73	0.00	0	-			33152074	33152075	-1	no_errors	ENST00000341947	ensembl	human	known	69_37n	frame_shift_ins	17	19.05	4	INS	0.999:0.989	G
COL12A1	1303	genome.wustl.edu	37	6	75839836	75839836	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:75839836G>A	ENST00000322507.8	-	37	6490	c.6181C>T	c.(6181-6183)Ccc>Tcc	p.P2061S	COL12A1_ENST00000483888.2_Missense_Mutation_p.P2061S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P897S|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2061S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2061	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCAACAGTGGGAGAATAGATG	0.418																																						dbGAP											0													141.0	135.0	137.0					6																	75839836		1907	4133	6040	-	-	-	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6181C>T	6.37:g.75839836G>A	ENSP00000325146:p.Pro2061Ser		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P2061S	ENST00000322507.8	37	c.6181	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358587	0.24598	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.02	4.22	0.49857	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.057423	0.64402	N	0.000002	T	0.30978	0.0782	L	0.46614	1.455	0.53005	D	0.99996	B;B	0.28233	0.047;0.204	B;B	0.32762	0.036;0.152	T	0.13926	-1.0491	10	0.41790	T	0.15	.	11.1137	0.48247	0.0658:0.0:0.8048:0.1294	.	897;2061	Q99715-2;Q99715	.;COCA1_HUMAN	S	2061;2061;897;2061;2061	ENSP00000325146:P2061S;ENSP00000305147:P897S;ENSP00000412864:P2061S;ENSP00000421216:P2061S	ENSP00000325146:P2061S	P	-	1	0	COL12A1	75896556	1.000000	0.71417	0.997000	0.53966	0.167000	0.22549	5.252000	0.65445	0.859000	0.35456	0.655000	0.94253	CCC	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.418	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	176	0.00	0	G	NM_004370		75839836	75839836	-1	no_errors	ENST00000322507	ensembl	human	known	69_37n	missense	204	31.54	94	SNP	1.000	A
COL22A1	169044	genome.wustl.edu	37	8	139701178	139701178	+	Silent	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:139701178A>G	ENST00000303045.6	-	37	3290	c.2844T>C	c.(2842-2844)gaT>gaC	p.D948D	COL22A1_ENST00000435777.1_Silent_p.D948D|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	948	Collagen-like 8.|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)			CACGCTCCCCATCTTTCCCTG	0.517										HNSCC(7;0.00092)																												dbGAP											0													145.0	126.0	133.0					8																	139701178		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.2844T>C	8.37:g.139701178A>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.D948	ENST00000303045.6	37	c.2844	CCDS6376.1	8																																																																																			COL22A1	-	NULL	ENSG00000169436		0.517	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	213	0.47	1	A	XM_291257		139701178	139701178	-1	no_errors	ENST00000303045	ensembl	human	known	69_37n	silent	64	11.11	8	SNP	0.994	G
COL4A6	1288	genome.wustl.edu	37	X	107421948	107421948	+	Silent	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:107421948C>G	ENST00000372216.4	-	27	2584	c.2484G>C	c.(2482-2484)ggG>ggC	p.G828G	COL4A6_ENST00000334504.7_Silent_p.G827G|COL4A6_ENST00000538570.1_Silent_p.G827G|COL4A6_ENST00000394872.2_Silent_p.G828G|COL4A6_ENST00000545689.1_Silent_p.G827G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	828	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTCCTGGGAGCCCAGATTTGC	0.622									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													131.0	101.0	111.0					X																	107421948		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2484G>C	X.37:g.107421948C>G			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G828	ENST00000372216.4	37	c.2484	CCDS14541.1	X																																																																																			COL4A6	-	pfam_Collagen	ENSG00000197565		0.622	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	167	0.00	0	C			107421948	107421948	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	silent	125	10.00	14	SNP	0.002	G
COL6A3	1293	genome.wustl.edu	37	2	238253387	238253387	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:238253387A>G	ENST00000295550.4	-	36	7726	c.7274T>C	c.(7273-7275)gTc>gCc	p.V2425A	COL6A3_ENST00000346358.4_Missense_Mutation_p.V2225A|COL6A3_ENST00000472056.1_Missense_Mutation_p.V1818A|COL6A3_ENST00000347401.3_Missense_Mutation_p.V2224A|COL6A3_ENST00000409809.1_Missense_Mutation_p.V2219A|COL6A3_ENST00000353578.4_Missense_Mutation_p.V2219A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2425	Nonhelical region.|VWFA 11. {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)		AATACTCAAGACCACATCTCG	0.577																																						dbGAP											0													82.0	86.0	85.0					2																	238253387		2203	4300	6503	-	-	-	SO:0001583	missense	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.7274T>C	2.37:g.238253387A>G	ENSP00000295550:p.Val2425Ala		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.V2425A	ENST00000295550.4	37	c.7274	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	A	7.536	0.659691	0.14645	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.22	5.22	0.72569	von Willebrand factor, type A (3);	0.632453	0.12369	N	0.474910	D	0.89343	0.6688	L	0.42245	1.32	0.09310	N	0.999993	P;P;P;D	0.64830	0.645;0.722;0.592;0.994	B;B;B;D	0.64877	0.371;0.205;0.254;0.93	T	0.82170	-0.0590	10	0.87932	D	0	.	15.1212	0.72443	1.0:0.0:0.0:0.0	.	1818;1818;2219;2425	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	A	2425;2224;2219;1818;2219;2225	ENSP00000295550:V2425A;ENSP00000315609:V2224A;ENSP00000315873:V2219A;ENSP00000418285:V1818A;ENSP00000386844:V2219A;ENSP00000295546:V2225A	ENSP00000295550:V2425A	V	-	2	0	COL6A3	237918126	0.981000	0.34729	0.004000	0.12327	0.005000	0.04900	6.946000	0.75953	1.967000	0.57214	0.533000	0.62120	GTC	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.577	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	130	0.00	0	A	NM_004369		238253387	238253387	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	missense	75	29.09	32	SNP	0.127	G
COX7B2	170712	genome.wustl.edu	37	4	46737103	46737103	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:46737103T>C	ENST00000396533.1	-	4	357	c.107A>G	c.(106-108)gAt>gGt	p.D36G	COX7B2_ENST00000302930.5_Missense_Mutation_p.D36G|COX7B2_ENST00000543208.1_Missense_Mutation_p.D35G|COX7B2_ENST00000355591.3_Missense_Mutation_p.D36G			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	36						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(4)	5						ACCATATTTATCATGAAAATC	0.428																																						dbGAP											0													154.0	135.0	142.0					4																	46737103		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.107A>G	4.37:g.46737103T>C	ENSP00000379784:p.Asp36Gly		Q32Q40	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_suVIIB,superfamily_Cyt_c_oxidase_suVIIB_dom	p.D36G	ENST00000396533.1	37	c.107	CCDS3472.2	4	.	.	.	.	.	.	.	.	.	.	T	14.75	2.627678	0.46944	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.22	4.22	0.49857	Cytochrome C oxidase, subunit VIIB, domain (2);	0.175084	0.49916	D	0.000140	T	0.68915	0.3053	.	.	.	0.38299	D	0.942934	D	0.89917	1.0	D	0.91635	0.999	T	0.74131	-0.3764	9	0.62326	D	0.03	-8.3115	9.9788	0.41800	0.0:0.0:0.0:1.0	.	36	Q8TF08	CX7B2_HUMAN	G	36;36;36;35	ENSP00000347799:D36G;ENSP00000379784:D36G;ENSP00000305964:D36G;ENSP00000437439:D35G	ENSP00000305964:D36G	D	-	2	0	COX7B2	46431860	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	3.728000	0.54991	2.139000	0.66308	0.477000	0.44152	GAT	COX7B2	-	pfam_Cyt_c_oxidase_suVIIB,superfamily_Cyt_c_oxidase_suVIIB_dom	ENSG00000170516		0.428	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	COX7B2	HGNC	protein_coding	OTTHUMT00000313899.1	173	0.00	0	T	NM_130902		46737103	46737103	-1	no_errors	ENST00000302930	ensembl	human	known	69_37n	missense	336	14.72	58	SNP	1.000	C
CPEB1	64506	genome.wustl.edu	37	15	83215973	83215974	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr15:83215973_83215974insC	ENST00000562019.1	-	10	1744_1745	c.1428_1429insG	c.(1426-1431)gtgactfs	p.T477fs	CPEB1_ENST00000398592.2_Frame_Shift_Ins_p.T246fs|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000423133.2_Frame_Shift_Ins_p.T397fs|CPEB1_ENST00000568757.1_Frame_Shift_Ins_p.T397fs|CPEB1_ENST00000564522.1_Frame_Shift_Ins_p.T397fs|CPEB1_ENST00000261723.6_Frame_Shift_Ins_p.T475fs|CPEB1_ENST00000398591.2_Frame_Shift_Ins_p.T402fs|CPEB1_ENST00000568128.1_Frame_Shift_Ins_p.T472fs|CPEB1_ENST00000450751.2_Frame_Shift_Ins_p.T397fs|CPEB1_ENST00000563800.1_Frame_Shift_Ins_p.T499fs|RP11-152F13.10_ENST00000562833.1_Frame_Shift_Ins_p.*206fs			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	477	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)			TTATTGAAAGTCACACGACCAG	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.1429dupG	15.37:g.83215974_83215974dupC	ENSP00000457836:p.Thr477fs		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Frame_Shift_Ins	INS	pfscan_RRM_dom	p.T476fs	ENST00000562019.1	37	c.1429_1428		15																																																																																			CPEB1	-	pfscan_RRM_dom	ENSG00000214575		0.401	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	CPEB1	HGNC	protein_coding	OTTHUMT00000421102.1	137	0.00	0	-	NM_030594		83215973	83215974	-1	no_errors	ENST00000562019	ensembl	human	known	69_37n	frame_shift_ins	190	10.80	23	INS	1.000:1.000	C
CPSF6	11052	genome.wustl.edu	37	12	69646886	69646886	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:69646886delT	ENST00000435070.2	+	3	436	c.326delT	c.(325-327)attfs	p.I109fs	CPSF6_ENST00000550987.1_3'UTR|CPSF6_ENST00000266679.8_Frame_Shift_Del_p.I109fs|CPSF6_ENST00000456847.3_Frame_Shift_Del_p.I109fs|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	109	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GTAAATGATATTTTGGAGATA	0.323																																						dbGAP											0													62.0	67.0	65.0					12																	69646886		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.326delT	12.37:g.69646886delT	ENSP00000391774:p.Ile109fs		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L110fs	ENST00000435070.2	37	c.326	CCDS8988.1	12																																																																																			CPSF6	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000111605		0.323	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	211	0.00	0	T	NM_007007		69646886	69646886	+1	no_errors	ENST00000266679	ensembl	human	known	69_37n	frame_shift_del	279	20.90	74	DEL	1.000	-
CPZ	8532	genome.wustl.edu	37	4	8603072	8603072	+	Missense_Mutation	SNP	G	G	C	rs375973206		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:8603072G>C	ENST00000360986.4	+	3	518	c.344G>C	c.(343-345)cGc>cCc	p.R115P	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.R104P|CPZ_ENST00000429646.2_5'Flank|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	115	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCTGGGTGCGCAGACCCTGC	0.692																																						dbGAP											0													24.0	25.0	25.0					4																	8603072		2200	4298	6498	-	-	-	SO:0001583	missense	0			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.344G>C	4.37:g.8603072G>C	ENSP00000354255:p.Arg115Pro		O00520|Q96MX2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14	p.R115P	ENST00000360986.4	37	c.344	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929261	0.34096	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.79554	-1.28;-1.28	3.41	-5.82	0.02333	Frizzled domain (5);	1.900940	0.02628	N	0.103950	T	0.68659	0.3025	N	0.17474	0.49	0.09310	N	1	P;P	0.44429	0.835;0.788	B;P	0.45753	0.359;0.492	T	0.64394	-0.6418	10	0.59425	D	0.04	-8.8717	5.5937	0.17315	0.3069:0.0:0.1484:0.5448	.	104;115	Q66K79-2;Q66K79	.;CBPZ_HUMAN	P	115;104	ENSP00000354255:R115P;ENSP00000315074:R104P	ENSP00000315074:R104P	R	+	2	0	CPZ	8653972	0.187000	0.23238	0.002000	0.10522	0.355000	0.29361	0.425000	0.21346	-1.098000	0.03038	-0.397000	0.06425	CGC	CPZ	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000109625		0.692	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	37	0.00	0	G	NM_003652		8603072	8603072	+1	no_errors	ENST00000360986	ensembl	human	known	69_37n	missense	5	45.45	5	SNP	0.009	C
CRY1	1407	genome.wustl.edu	37	12	107391414	107391414	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:107391414C>A	ENST00000008527.5	-	9	2211	c.1344G>T	c.(1342-1344)tgG>tgT	p.W448C		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	448	Required for inhibition of CLOCK- ARNTL/BMAL1-mediated transcription. {ECO:0000250}.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CTGGTGCATTCCAGGGATCAT	0.398																																						dbGAP											0													90.0	90.0	90.0					12																	107391414		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1344G>T	12.37:g.107391414C>A	ENSP00000008527:p.Trp448Cys			Missense_Mutation	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.W448C	ENST00000008527.5	37	c.1344	CCDS9112.1	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276127	0.80580	.	.	ENSG00000008405	ENST00000008527;ENST00000319645	.	.	.	5.79	5.79	0.91817	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90324	0.6973	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92880	0.6322	9	0.87932	D	0	-7.8827	20.0371	0.97565	0.0:1.0:0.0:0.0	.	448	Q16526	CRY1_HUMAN	C	448;55	.	ENSP00000008527:W448C	W	-	3	0	CRY1	105915544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.734000	0.93682	0.655000	0.94253	TGG	CRY1	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C	ENSG00000008405		0.398	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRY1	HGNC	protein_coding	OTTHUMT00000406827.1	264	0.00	0	C	NM_004075		107391414	107391414	-1	no_errors	ENST00000008527	ensembl	human	known	69_37n	missense	258	15.13	46	SNP	1.000	A
CSMD1	64478	genome.wustl.edu	37	8	2857623	2857623	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:2857623A>T	ENST00000520002.1	-	54	8618	c.8063T>A	c.(8062-8064)gTg>gAg	p.V2688E	CSMD1_ENST00000537824.1_Missense_Mutation_p.V2687E|CSMD1_ENST00000602723.1_Missense_Mutation_p.V2630E|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2630E|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2629E|CSMD1_ENST00000602557.1_Missense_Mutation_p.V2688E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2688	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		GTGACCGTTCACAATCGGGTC	0.433																																						dbGAP											0													87.0	86.0	86.0					8																	2857623		1890	4118	6008	-	-	-	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.8063T>A	8.37:g.2857623A>T	ENSP00000430733:p.Val2688Glu		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.C2104*	ENST00000520002.1	37	c.6312		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.68|16.68	3.190399|3.190399	0.58017|0.58017	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.62941	.|-0.01;-0.01;-0.01;-0.01	5.77|5.77	5.77|5.77	0.91146|0.91146	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.083546	.|0.48767	.|D	.|0.000180	.|T	.|0.66528	.|0.2798	N|N	0.25957|0.25957	0.775|0.775	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;1.0;1.0	.|D;D;D	.|0.91635	.|0.995;0.994;0.999	.|T	.|0.60311	.|-0.7288	.|10	.|0.10377	.|T	.|0.69	.|.	16.383|16.383	0.83481|0.83481	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2688;2688;2629	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	X|E	2104|2630;2688;2549;2687;2629	.|ENSP00000383047:V2630E;ENSP00000430733:V2688E;ENSP00000441462:V2687E;ENSP00000446243:V2629E	.|ENSP00000320445:V2549E	C|V	-|-	3|2	2|0	CSMD1|CSMD1	2845030|2845030	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.105000|0.105000	0.19272|0.19272	5.966000|5.966000	0.70395|0.70395	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	TGT|GTG	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	97	0.00	0	A	NM_033225		2857623	2857623	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000335551	ensembl	human	novel	69_37n	nonsense	51	37.04	30	SNP	1.000	T
CTC1	80169	genome.wustl.edu	37	17	8141744	8141744	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:8141744T>C	ENST00000315684.8	-	3	408	c.401A>G	c.(400-402)tAt>tGt	p.Y134C	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	134					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ATCTCTCACATAGAGGCTTCC	0.517																																						dbGAP											0													143.0	140.0	141.0					17																	8141744		2009	4194	6203	-	-	-	SO:0001583	missense	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.401A>G	17.37:g.8141744T>C	ENSP00000313759:p.Tyr134Cys		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.Y134C	ENST00000315684.8	37	c.401	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388224	0.61956	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.85258	-1.96;-1.96	5.94	2.51	0.30379	.	0.313785	0.30235	N	0.010098	T	0.81245	0.4782	M	0.70595	2.14	0.33150	D	0.545546	B	0.22683	0.073	B	0.25884	0.064	T	0.77571	-0.2538	10	0.72032	D	0.01	-2.1746	4.2442	0.10663	0.1515:0.1447:0.0:0.7038	.	134	Q2NKJ3	CTC1_HUMAN	C	134	ENSP00000313759:Y134C;ENSP00000396018:Y134C	ENSP00000313759:Y134C	Y	-	2	0	CTC1	8082469	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	1.354000	0.34056	0.149000	0.19098	0.459000	0.35465	TAT	CTC1	-	NULL	ENSG00000178971		0.517	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	220	0.00	0	T	NM_025099		8141744	8141744	-1	no_errors	ENST00000315684	ensembl	human	known	69_37n	missense	44	74.27	127	SNP	0.998	C
CTNND2	1501	genome.wustl.edu	37	5	11364989	11364990	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:11364989_11364990insA	ENST00000304623.8	-	8	1379_1380	c.1190_1191insT	c.(1189-1191)gccfs	p.A397fs	CTNND2_ENST00000503622.1_Frame_Shift_Ins_p.A60fs|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Frame_Shift_Ins_p.A397fs|CTNND2_ENST00000511377.1_Frame_Shift_Ins_p.A306fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	397					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTGTATGAGGCTCGGGAACC	0.49																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1190_1191insT	5.37:g.11364989_11364990insA	ENSP00000307134:p.Ala397fs		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Frame_Shift_Ins	INS	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S398fs	ENST00000304623.8	37	c.1191_1190	CCDS3881.1	5																																																																																			CTNND2	-	NULL	ENSG00000169862		0.490	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	69	0.00	0	-	NM_001332		11364989	11364990	-1	no_errors	ENST00000304623	ensembl	human	known	69_37n	frame_shift_ins	26	70.11	61	INS	1.000:1.000	A
CTNND2	1501	genome.wustl.edu	37	5	11364993	11364993	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:11364993C>T	ENST00000304623.8	-	8	1376	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	CTNND2_ENST00000503622.1_Missense_Mutation_p.R59Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R396Q|CTNND2_ENST00000511377.1_Missense_Mutation_p.R305Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	396					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTATGAGGCTCGGGAACCAGC	0.488																																						dbGAP											0													39.0	44.0	42.0					5																	11364993		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1187G>A	5.37:g.11364993C>T	ENSP00000307134:p.Arg396Gln		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R396Q	ENST00000304623.8	37	c.1187	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.323778	0.95708	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	T;T;T;T	0.81078	-1.35;-1.45;-1.38;-1.26	5.47	5.47	0.80525	.	0.000000	0.56097	D	0.000021	D	0.86781	0.6015	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.968;0.992	D	0.86607	0.1870	10	0.51188	T	0.08	-14.5688	19.3321	0.94295	0.0:1.0:0.0:0.0	.	59;396	B4DRK2;Q9UQB3	.;CTND2_HUMAN	Q	396;396;305;59;136	ENSP00000307134:R396Q;ENSP00000352661:R396Q;ENSP00000426510:R305Q;ENSP00000426887:R59Q	ENSP00000307134:R396Q	R	-	2	0	CTNND2	11417993	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.487000	0.81328	2.581000	0.87130	0.655000	0.94253	CGA	CTNND2	-	NULL	ENSG00000169862		0.488	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	58	0.00	0	C	NM_001332		11364993	11364993	-1	no_errors	ENST00000304623	ensembl	human	known	69_37n	missense	19	78.41	69	SNP	1.000	T
CXCR3	2833	genome.wustl.edu	37	X	70837027	70837027	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:70837027C>T	ENST00000373693.3	-	2	362	c.295G>A	c.(295-297)Gac>Aac	p.D99N	CXCR3_ENST00000373691.4_Missense_Mutation_p.D146N	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	99					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					AGCAGCGTGTCTGCTACAGCT	0.667																																						dbGAP											0													22.0	17.0	18.0					X																	70837027		2200	4292	6492	-	-	-	SO:0001583	missense	0			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.295G>A	X.37:g.70837027C>T	ENSP00000362797:p.Asp99Asn		B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR3,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt	p.D146N	ENST00000373693.3	37	c.436	CCDS14416.1	X	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343507	0.61073	.	.	ENSG00000186810	ENST00000373691;ENST00000373693;ENST00000373687	D;D	0.88431	-2.38;-2.38	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94798	0.8320	M	0.85373	2.75	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95348	0.8444	10	0.87932	D	0	.	15.3791	0.74637	0.0:1.0:0.0:0.0	.	146;99	P49682-2;P49682	.;CXCR3_HUMAN	N	146;99;99	ENSP00000362795:D146N;ENSP00000362797:D99N	ENSP00000362791:D99N	D	-	1	0	CXCR3	70753752	0.998000	0.40836	0.048000	0.18961	0.002000	0.02628	3.832000	0.55783	2.517000	0.84864	0.600000	0.82982	GAC	CXCR3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000186810		0.667	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	HGNC	protein_coding	OTTHUMT00000144141.1	34	0.00	0	C			70837027	70837027	-1	no_errors	ENST00000373691	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	0.981	T
CYFIP1	23191	genome.wustl.edu	37	15	22929811	22929811	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr15:22929811G>A	ENST00000313077.7	+	6	610	c.485G>A	c.(484-486)gGc>gAc	p.G162D	CYFIP1_ENST00000560848.1_Missense_Mutation_p.G162D	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATCACACTGGGCAAATTCATC	0.542																																						dbGAP											0													138.0	109.0	119.0					15																	22929811		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.485G>A	15.37:g.22929811G>A	ENSP00000324549:p.Gly162Asp			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.G162D	ENST00000313077.7	37	c.485	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132249	0.77662	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.42900	0.96	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.68796	0.3040	M	0.83312	2.635	0.80722	D	1	D;B	0.89917	1.0;0.04	D;B	0.83275	0.996;0.13	T	0.74150	-0.3758	10	0.66056	D	0.02	-18.0701	18.4773	0.90798	0.0:0.0:1.0:0.0	.	190;162	E7EQ04;Q7L576	.;CYFP1_HUMAN	D	162;190	ENSP00000324549:G162D	ENSP00000324549:G162D	G	+	2	0	CYFIP1	20481252	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.658000	0.98594	2.439000	0.82584	0.561000	0.74099	GGC	CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	ENSG00000068793		0.542	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	105	0.00	0	G	NM_014608		22929811	22929811	+1	no_errors	ENST00000313077	ensembl	human	known	69_37n	missense	16	15.79	3	SNP	1.000	A
CYP2C19	1557	genome.wustl.edu	37	10	96535496	96535496	+	Intron	SNP	A	A	G	rs567723139		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:96535496A>G	ENST00000371321.3	+	3	563				CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19						arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGTGCATACAGTGTGGGTAT	0.373																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.481+200A>G	10.37:g.96535496A>G			P33259|Q8WZB1|Q8WZB2|Q9UCD4	RNA	SNP	-	NULL	ENST00000371321.3	37	NULL	CCDS7436.1	10																																																																																			CYP2C19	-	-	ENSG00000165841		0.373	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	64	0.00	0	A	NM_000769		96535496	96535496	+1	no_errors	ENST00000480405	ensembl	human	known	69_37n	rna	40	49.37	39	SNP	0.001	G
CYP4F11	57834	genome.wustl.edu	37	19	16025600	16025600	+	Silent	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:16025600C>G	ENST00000402119.4	-	9	1647	c.1221G>C	c.(1219-1221)gtG>gtC	p.V407V	CYP4F11_ENST00000248041.8_Silent_p.V407V|CYP4F11_ENST00000326742.8_Silent_p.V407V|CYP4F11_ENST00000591841.1_Silent_p.V82V	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CGTCTGGGAGCACAAAGTCCT	0.642																																						dbGAP											0													79.0	80.0	80.0					19																	16025600		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1221G>C	19.37:g.16025600C>G				Silent	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.V407	ENST00000402119.4	37	c.1221	CCDS12337.1	19																																																																																			CYP4F11	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000171903		0.642	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	174	0.00	0	C	NM_021187		16025600	16025600	-1	no_errors	ENST00000248041	ensembl	human	known	69_37n	silent	36	73.91	102	SNP	0.007	G
DAB1	1600	genome.wustl.edu	37	1	57480646	57480646	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:57480646C>A	ENST00000371231.1	-	13	1487	c.1453G>T	c.(1453-1455)Gtg>Ttg	p.V485L	DAB1_ENST00000371234.4_Missense_Mutation_p.V452L|DAB1_ENST00000420954.2_Missense_Mutation_p.V450L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.V452L|DAB1_ENST00000414851.2_Missense_Mutation_p.V434L|DAB1_ENST00000439789.2_Missense_Mutation_p.V366L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	485					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCCTGTGCCACCCCGACTTTG	0.577																																						dbGAP											0													80.0	78.0	78.0					1																	57480646		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1453G>T	1.37:g.57480646C>A	ENSP00000360275:p.Val485Leu		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.V485L	ENST00000371231.1	37	c.1453		1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401546	0.25291	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.43688	0.96;0.96;0.94;0.96;1.98;0.94	5.44	5.44	0.79542	.	0.220863	0.45606	D	0.000348	T	0.15609	0.0376	N	0.03608	-0.345	0.29683	N	0.84155	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.001;0.002	T	0.27123	-1.0083	10	0.08837	T	0.75	-46.2755	5.281	0.15676	0.2012:0.6828:0.0:0.116	.	434;485;452;366;450	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	L	452;452;452;450;434;366;485	ENSP00000360280:V452L;ENSP00000360278:V452L;ENSP00000395296:V450L;ENSP00000387581:V434L;ENSP00000409328:V366L;ENSP00000360275:V485L	ENSP00000360275:V485L	V	-	1	0	DAB1	57253234	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.972000	0.29409	2.834000	0.97654	0.650000	0.86243	GTG	DAB1	-	NULL	ENSG00000173406		0.577	DAB1-010	KNOWN	basic	protein_coding	DAB1	HGNC	protein_coding	OTTHUMT00000027962.1	227	0.44	1	C	NM_021080		57480646	57480646	-1	no_errors	ENST00000371231	ensembl	human	known	69_37n	missense	68	46.03	58	SNP	1.000	A
DAGLA	747	genome.wustl.edu	37	11	61502368	61502369	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:61502368_61502369delTC	ENST00000257215.5	+	10	1138_1139	c.1022_1023delTC	c.(1021-1023)atcfs	p.I341fs		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	341					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGAGTCACCATCGAGGAAGACA	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1022_1023delTC	11.37:g.61502368_61502369delTC	ENSP00000257215:p.Ile341fs		A7E233|Q6WQJ0	Frame_Shift_Del	DEL	pfam_Lipase_3	p.I341fs	ENST00000257215.5	37	c.1022_1023	CCDS31578.1	11																																																																																			DAGLA	-	NULL	ENSG00000134780		0.599	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	97	0.00	0	TC	NM_006133		61502368	61502369	+1	no_errors	ENST00000257215	ensembl	human	known	69_37n	frame_shift_del	70	11.25	9	DEL	1.000:0.995	-
DCAF5	8816	genome.wustl.edu	37	14	69520743	69520743	+	Missense_Mutation	SNP	T	T	C	rs200458341		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:69520743T>C	ENST00000341516.5	-	9	2807	c.2660A>G	c.(2659-2661)gAa>gGa	p.E887G	DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000556847.1_Missense_Mutation_p.E805G|DCAF5_ENST00000554215.1_Missense_Mutation_p.E805G|DCAF5_ENST00000557386.1_Missense_Mutation_p.E886G	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	887					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ACAGGCCATTTCAGACCCGCA	0.562																																						dbGAP											0													76.0	74.0	75.0					14																	69520743		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2660A>G	14.37:g.69520743T>C	ENSP00000341351:p.Glu887Gly		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E887G	ENST00000341516.5	37	c.2660	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	T	9.104	1.004836	0.19199	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.71222	-0.55;-0.37;-0.37;0.08	5.09	3.94	0.45596	.	0.069439	0.56097	N	0.000033	T	0.52581	0.1743	L	0.27053	0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46373	-0.9196	10	0.41790	T	0.15	-8.781	5.2074	0.15299	0.0:0.154:0.1519:0.694	.	886;887	G3V4J7;Q96JK2	.;DCAF5_HUMAN	G	887;805;805;886	ENSP00000341351:E887G;ENSP00000451551:E805G;ENSP00000452052:E805G;ENSP00000451845:E886G	ENSP00000341351:E887G	E	-	2	0	DCAF5	68590496	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.931000	0.40134	0.956000	0.37904	-0.441000	0.05720	GAA	DCAF5	-	NULL	ENSG00000139990		0.562	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	228	0.00	0	T	NM_003861		69520743	69520743	-1	no_errors	ENST00000341516	ensembl	human	known	69_37n	missense	146	16.95	30	SNP	1.000	C
DCHS1	8642	genome.wustl.edu	37	11	6644446	6644446	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:6644446G>C	ENST00000299441.3	-	21	8872	c.8461C>G	c.(8461-8463)Caa>Gaa	p.Q2821E	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2821	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGGGCACTTGGAAGTGGAAA	0.582																																						dbGAP											0													27.0	26.0	27.0					11																	6644446		2200	4292	6492	-	-	-	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8461C>G	11.37:g.6644446G>C	ENSP00000299441:p.Gln2821Glu		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q2821E	ENST00000299441.3	37	c.8461	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.319774	0.01320	.	.	ENSG00000166341	ENST00000299441	T	0.60171	0.21	4.97	4.97	0.65823	Cadherin (2);Cadherin-like (1);	0.000000	0.37437	N	0.002083	T	0.25717	0.0626	N	0.01771	-0.73	0.31885	N	0.617892	B	0.14012	0.009	B	0.09377	0.004	T	0.19224	-1.0312	10	0.02654	T	1	.	11.9413	0.52903	0.0:0.2796:0.7204:0.0	.	2821	Q96JQ0	PCD16_HUMAN	E	2821	ENSP00000299441:Q2821E	ENSP00000299441:Q2821E	Q	-	1	0	DCHS1	6601022	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.007000	0.40883	2.587000	0.87381	0.655000	0.94253	CAA	DCHS1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000166341		0.582	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	52	0.00	0	G	NM_003737		6644446	6644446	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	missense	16	45.16	14	SNP	1.000	C
DCHS2	54798	genome.wustl.edu	37	4	155242031	155242031	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:155242031G>C	ENST00000357232.4	-	14	3154	c.3155C>G	c.(3154-3156)tCc>tGc	p.S1052C		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1052	Cadherin 8. {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)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAAGATGGGGAATGGTCATT	0.433																																						dbGAP											0													144.0	137.0	140.0					4																	155242031		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3155C>G	4.37:g.155242031G>C	ENSP00000349768:p.Ser1052Cys		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S1052C	ENST00000357232.4	37	c.3155	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397985	0.62177	.	.	ENSG00000197410	ENST00000357232	T	0.61392	0.11	5.69	4.84	0.62591	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.646648	0.15044	N	0.283681	T	0.76285	0.3966	M	0.90425	3.115	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.79899	-0.1608	10	0.51188	T	0.08	.	15.1067	0.72326	0.0:0.2681:0.7319:0.0	.	1052	Q6V1P9	PCD23_HUMAN	C	1052	ENSP00000349768:S1052C	ENSP00000349768:S1052C	S	-	2	0	DCHS2	155461481	0.999000	0.42202	0.848000	0.33437	0.847000	0.48162	5.196000	0.65136	1.391000	0.46566	0.563000	0.77884	TCC	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	307	0.32	1	G	NM_001142552		155242031	155242031	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	270	21.05	72	SNP	0.975	C
DCHS2	54798	genome.wustl.edu	37	4	155242033	155242033	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:155242033A>T	ENST00000357232.4	-	14	3152	c.3153T>A	c.(3151-3153)caT>caA	p.H1051Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1051	Cadherin 8. {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)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGATGGGGAATGGTCATTCT	0.433																																						dbGAP											0													145.0	138.0	140.0					4																	155242033		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3153T>A	4.37:g.155242033A>T	ENSP00000349768:p.His1051Gln		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H1051Q	ENST00000357232.4	37	c.3153	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	A	17.75	3.466353	0.63625	.	.	ENSG00000197410	ENST00000357232	T	0.61274	0.12	5.69	-0.78	0.10969	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.67050	0.2852	M	0.66378	2.025	0.80722	D	1	D	0.71674	0.998	D	0.63597	0.916	T	0.67692	-0.5605	10	0.72032	D	0.01	.	10.8592	0.46817	0.56:0.0:0.44:0.0	.	1051	Q6V1P9	PCD23_HUMAN	Q	1051	ENSP00000349768:H1051Q	ENSP00000349768:H1051Q	H	-	3	2	DCHS2	155461483	0.976000	0.34144	0.855000	0.33649	0.869000	0.49853	0.380000	0.20602	-0.111000	0.12001	-0.376000	0.06991	CAT	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	309	0.00	0	A	NM_001142552		155242033	155242033	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	270	20.12	68	SNP	0.977	T
DDX31	64794	genome.wustl.edu	37	9	135505736	135505736	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:135505736G>A	ENST00000372159.3	-	16	2012	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	DDX31_ENST00000438527.3_Missense_Mutation_p.R492W|DDX31_ENST00000372153.1_Silent_p.P612P	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	621	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					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)		CAGCCAATCCGGGCGGTTCTT	0.478																																						dbGAP											0													104.0	110.0	108.0					9																	135505736		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.1861C>T	9.37:g.135505736G>A	ENSP00000361232:p.Arg621Trp		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.R621W	ENST00000372159.3	37	c.1861	CCDS6951.1	9	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035254	0.75617	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000438527	D;D	0.94828	-3.53;-3.53	5.54	5.54	0.83059	Helicase, C-terminal (3);	0.105044	0.64402	D	0.000003	D	0.98492	0.9497	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99044	1.0825	10	0.87932	D	0	-22.2028	13.5102	0.61508	0.0:0.0:0.8441:0.1559	.	621	Q9H8H2	DDX31_HUMAN	W	621;621;492	ENSP00000361232:R621W;ENSP00000387730:R492W	ENSP00000361228:R621W	R	-	1	2	DDX31	134495557	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.080000	0.71299	2.619000	0.88677	0.650000	0.86243	CGG	DDX31	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000125485		0.478	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DDX31	HGNC	protein_coding	OTTHUMT00000054794.1	123	0.00	0	G	NM_138620		135505736	135505736	-1	no_errors	ENST00000372159	ensembl	human	known	69_37n	missense	106	27.21	40	SNP	1.000	A
DEAF1	10522	genome.wustl.edu	37	11	684947	684948	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:684947_684948GG>AT	ENST00000382409.3	-	6	1304_1305	c.820_821CC>AT	c.(820-822)CCt>ATt	p.P274I	DEAF1_ENST00000338675.6_Missense_Mutation_p.P227H	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	274					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGCAGCGTGAGGGTTTAAGATC	0.5																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.820_821delinsAT	11.37:g.684947_684948delinsAT	ENSP00000371846:p.Pro274Ile		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom	p.P274L|p.P274T	ENST00000382409.3	37	c.821|c.820	CCDS31327.1	11																																																																																			DEAF1	-	superfamily_SAND_dom-like	ENSG00000177030		0.500	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEAF1	HGNC	protein_coding	OTTHUMT00000383614.3	109|107	0.00|0.93	0|1	G	NM_021008		684947|684948	684947|684948	-1	no_errors	ENST00000382409	ensembl	human	known	69_37n	missense	69	87.34|86.88	476|470	SNP	1.000	A|T
DENND3	22898	genome.wustl.edu	37	8	142178166	142178167	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:142178166_142178167insC	ENST00000262585.2	+	13	1855_1856	c.1577_1578insC	c.(1576-1581)gagagcfs	p.ES526fs	DENND3_ENST00000519811.1_Frame_Shift_Ins_p.ES606fs|DENND3_ENST00000424248.1_Frame_Shift_Ins_p.ES474fs	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	526					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TTTCCGCTGGAGAGCAAGTGCG	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		Exception_encountered	8.37:g.142178166_142178167insC	ENSP00000262585:p.Glu526fs		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Frame_Shift_Ins	INS	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.E526fs	ENST00000262585.2	37	c.1577_1578	CCDS34947.1	8																																																																																			DENND3	-	NULL	ENSG00000105339		0.525	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding		94	0.00	0	-	NM_014957		142178166	142178167	+1	no_errors	ENST00000262585	ensembl	human	known	69_37n	frame_shift_ins	36	14.29	6	INS	0.996:0.992	C
DENND5A	23258	genome.wustl.edu	37	11	9225258	9225258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:9225258G>A	ENST00000328194.3	-	4	1218	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	DENND5A_ENST00000530044.1_Nonsense_Mutation_p.Q300*	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	300	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTAAAAAGCTGAAACACATTC	0.473																																						dbGAP											0													71.0	76.0	75.0					11																	9225258		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.898C>T	11.37:g.9225258G>A	ENSP00000328524:p.Gln300*		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.Q300*	ENST00000328194.3	37	c.898	CCDS31423.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.490399	0.98316	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-13.9385	18.9731	0.92722	0.0:0.0:1.0:0.0	.	.	.	.	X	300	.	ENSP00000328524:Q300X	Q	-	1	0	DENND5A	9181834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.471000	0.83476	0.650000	0.86243	CAG	DENND5A	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000184014		0.473	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	52	0.00	0	G	NM_015213		9225258	9225258	-1	no_errors	ENST00000328194	ensembl	human	known	69_37n	nonsense	30	28.57	12	SNP	1.000	A
DEPDC5	9681	genome.wustl.edu	37	22	32241073	32241073	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:32241073delG	ENST00000382112.3	+	29	2914	c.2844delG	c.(2842-2844)aagfs	p.K948fs	DEPDC5_ENST00000382105.2_Frame_Shift_Del_p.K879fs|DEPDC5_ENST00000400248.2_Frame_Shift_Del_p.K948fs|DEPDC5_ENST00000535622.1_Frame_Shift_Del_p.K879fs|DEPDC5_ENST00000266091.3_Frame_Shift_Del_p.K957fs|DEPDC5_ENST00000400249.2_Frame_Shift_Del_p.K948fs|DEPDC5_ENST00000382111.2_Frame_Shift_Del_p.K957fs|DEPDC5_ENST00000400246.1_Frame_Shift_Del_p.K957fs	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	957					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						CCGCCACCAAGCGCATCACGG	0.607																																						dbGAP											0													71.0	77.0	75.0					22																	32241073		2114	4236	6350	-	-	-	SO:0001589	frameshift_variant	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	ENST00000382112.3:c.2844delG	22.37:g.32241073delG	ENSP00000371546:p.Lys948fs		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Frame_Shift_Del	DEL	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.K957fs	ENST00000382112.3	37	c.2871	CCDS46692.1	22																																																																																			DEPDC5	-	NULL	ENSG00000100150		0.607	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	169	0.00	0	G	NM_014662		32241073	32241073	+1	no_errors	ENST00000266091	ensembl	human	known	69_37n	frame_shift_del	236	11.90	32	DEL	1.000	-
DIDO1	11083	genome.wustl.edu	37	20	61513156	61513156	+	Silent	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr20:61513156T>C	ENST00000266070.4	-	16	4477	c.4152A>G	c.(4150-4152)ccA>ccG	p.P1384P	DIDO1_ENST00000395343.1_Silent_p.P1384P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1384					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CAGGGTCGTATGGCCTGTCGT	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0													90.0	100.0	96.0					20																	61513156		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4152A>G	20.37:g.61513156T>C			A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.P1384	ENST00000266070.4	37	c.4152	CCDS33506.1	20																																																																																			DIDO1	-	NULL	ENSG00000101191		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	138	0.00	0	T	NM_080796		61513156	61513156	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	silent	61	20.78	16	SNP	0.308	C
DIP2C	22982	genome.wustl.edu	37	10	402402	402402	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:402402G>A	ENST00000280886.6	-	24	3036	c.2949C>T	c.(2947-2949)acC>acT	p.T983T	DIP2C_ENST00000540204.1_Silent_p.T304T|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	983						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTGGTCCGGGGTGGTCTGTG	0.627																																						dbGAP											0													143.0	124.0	131.0					10																	402402		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2949C>T	10.37:g.402402G>A			B4DPI5|Q5SS78	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.T983	ENST00000280886.6	37	c.2949	CCDS7054.1	10																																																																																			DIP2C	-	NULL	ENSG00000151240		0.627	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	183	0.00	0	G	NM_014974		402402	402402	-1	no_errors	ENST00000280886	ensembl	human	known	69_37n	silent	66	12.00	9	SNP	0.070	A
DNAH10	196385	genome.wustl.edu	37	12	124320025	124320025	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:124320025C>T	ENST00000409039.3	+	27	4523	c.4498C>T	c.(4498-4500)Ctt>Ttt	p.L1500F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1500	Stem. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGATCACAACTTCCGGAAGA	0.358																																						dbGAP											0													99.0	90.0	93.0					12																	124320025		1846	4091	5937	-	-	-	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4498C>T	12.37:g.124320025C>T	ENSP00000386770:p.Leu1500Phe		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.L1500F	ENST00000409039.3	37	c.4498	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842591	0.51057	.	.	ENSG00000197653	ENST00000409039	T	0.73469	-0.75	6.02	4.17	0.49024	Dynein heavy chain, domain-2 (1);	0.000000	0.53938	U	0.000045	D	0.90954	0.7156	H	0.98786	4.33	0.52501	D	0.999957	D	0.89917	1.0	D	0.91635	0.999	D	0.92765	0.6227	10	0.87932	D	0	.	11.8992	0.52673	0.0:0.8418:0.0:0.1582	.	1500	Q8IVF4	DYH10_HUMAN	F	1500	ENSP00000386770:L1500F	ENSP00000386770:L1500F	L	+	1	0	DNAH10	122885978	1.000000	0.71417	0.949000	0.38748	0.237000	0.25408	1.900000	0.39828	2.857000	0.98124	0.650000	0.86243	CTT	DNAH10	-	pfam_Dynein_heavy_dom-2	ENSG00000197653		0.358	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	384	0.00	0	C			124320025	124320025	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	202	33.55	102	SNP	1.000	T
DNAH7	56171	genome.wustl.edu	37	2	196737162	196737164	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	TCA	TCA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:196737162_196737164delTCA	ENST00000312428.6	-	40	6543_6545	c.6443_6445delTGA	c.(6442-6447)ttgacc>tcc	p.2148_2149LT>S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2148	AAA 3. {ECO:0000250}.				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						ATTTGTGTGGTCAAATCTAGAAA	0.305																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	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.6443_6445delTGA	2.37:g.196737162_196737164delTCA	ENSP00000311273:p.Leu2148_Thr2149delinsSer		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	In_Frame_Del	DEL	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.LT2148in_frame_delS	ENST00000312428.6	37	c.6445_6443	CCDS42794.1	2																																																																																			DNAH7	-	NULL	ENSG00000118997		0.305	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	182	0.00	0	TCA	NM_018897		196737162	196737164	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	in_frame_del	152	10.53	18	DEL	1.000:1.000:0.997	-
DNAI1	27019	genome.wustl.edu	37	9	34500814	34500814	+	Silent	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:34500814C>A	ENST00000242317.4	+	11	1167	c.996C>A	c.(994-996)cgC>cgA	p.R332R		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	332					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AAGCCAAGCGCCTGTCCGTCA	0.527									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													60.0	60.0	60.0					9																	34500814		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.996C>A	9.37:g.34500814C>A		848	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R332	ENST00000242317.4	37	c.996	CCDS6557.1	9																																																																																			DNAI1	-	superfamily_WD40_repeat_dom	ENSG00000122735		0.527	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAI1	HGNC	protein_coding	OTTHUMT00000052192.1	190	0.00	0	C			34500814	34500814	+1	no_errors	ENST00000242317	ensembl	human	known	69_37n	silent	150	34.63	80	SNP	1.000	A
DNM2	1785	genome.wustl.edu	37	19	10934492	10934492	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:10934492G>A	ENST00000355667.6	+	17	1890	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	DNM2_ENST00000408974.4_Missense_Mutation_p.E600K|DNM2_ENST00000359692.6_Missense_Mutation_p.E600K|DNM2_ENST00000389253.4_Missense_Mutation_p.E604K|DNM2_ENST00000314646.5_Missense_Mutation_p.E604K|DNM2_ENST00000585892.1_Missense_Mutation_p.E604K	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	604	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCGGCAGATCGAGCTGGCCTG	0.642			"""F, N, Splice, Mis, O"""		ETP ALL																																	dbGAP		Rec	yes		19	19p13.2	1785	dynamin 2		L	0													63.0	56.0	58.0					19																	10934492		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1810G>A	19.37:g.10934492G>A	ENSP00000347890:p.Glu604Lys		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.E604K	ENST00000355667.6	37	c.1810	CCDS45968.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.519687	0.96416	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	D;D;D	0.96073	-3.9;-3.9;-3.9	4.92	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.89095	3.005	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;0.98;0.683;0.995;0.987;0.992	D;P;P;D;D;P	0.76575	0.988;0.88;0.878;0.91;0.95;0.869	D	0.98616	1.0665	10	0.56958	D	0.05	-11.8088	16.9115	0.86141	0.0:0.0:1.0:0.0	.	198;333;600;600;604;604	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	K	600;600;604;604;604;211	ENSP00000386192:E600K;ENSP00000373905:E604K;ENSP00000313164:E604K	ENSP00000313164:E604K	E	+	1	0	DNM2	10795492	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.516000	0.98017	2.281000	0.76405	0.462000	0.41574	GAG	DNM2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000079805		0.642	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	HGNC	protein_coding	OTTHUMT00000452592.1	30	0.00	0	G	NM_004945		10934492	10934492	+1	no_errors	ENST00000314646	ensembl	human	known	69_37n	missense	10	54.55	12	SNP	1.000	A
DOCK2	1794	genome.wustl.edu	37	5	169446012	169446013	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:169446012_169446013insT	ENST00000256935.8	+	33	3361_3362	c.3281_3282insT	c.(3280-3285)gagatgfs	p.EM1094fs	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Frame_Shift_Ins_p.EM155fs|DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.EM586fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1094	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.E1094E(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTATATTAGAGATGACACTTA	0.45																																						dbGAP											1	Substitution - coding silent(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	Exception_encountered	5.37:g.169446012_169446013insT	ENSP00000256935:p.Glu1094fs		Q2M3I0|Q96AK7	Frame_Shift_Ins	INS	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like,smart_SH3_domain,pfscan_SH3_domain	p.E1094fs	ENST00000256935.8	37	c.3281_3282	CCDS4371.1	5																																																																																			DOCK2	-	superfamily_ARM-type_fold	ENSG00000134516		0.450	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	79	0.00	0	-	NM_004946		169446012	169446013	+1	no_errors	ENST00000256935	ensembl	human	known	69_37n	frame_shift_ins	96	18.64	22	INS	1.000:1.000	T
DOT1L	84444	genome.wustl.edu	37	19	2223288	2223288	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:2223288C>T	ENST00000398665.3	+	25	3435	c.3399C>T	c.(3397-3399)aaC>aaT	p.N1133N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1133					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		AGGTCAGTAACATCAACCAGC	0.637																																						dbGAP											0													80.0	94.0	90.0					19																	2223288		2019	4176	6195	-	-	-	SO:0001819	synonymous_variant	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3399C>T	19.37:g.2223288C>T			O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.T920I	ENST00000398665.3	37	c.2759	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438366	0.25900	.	.	ENSG00000104885	ENST00000440640	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	T	0.73377	0.3579	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73014	-0.4116	4	.	.	.	-40.6817	17.3043	0.87191	0.0:1.0:0.0:0.0	.	.	.	.	I	920	.	.	T	+	2	0	DOT1L	2174288	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.452000	0.60054	2.342000	0.79632	0.561000	0.74099	ACA	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.637	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	31	0.00	0	C	NM_032482		2223288	2223288	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000440640	ensembl	human	novel	69_37n	missense	1	87.50	7	SNP	1.000	T
DYNC1LI2	1783	genome.wustl.edu	37	16	66766325	66766325	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:66766325C>G	ENST00000258198.2	-	7	1052	c.846G>C	c.(844-846)ttG>ttC	p.L282F	DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.L243F|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.L205F|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000570201.1_5'Flank|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	282					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		ACTTATACAACAAGTCGAGGT	0.378																																						dbGAP											0													122.0	116.0	118.0					16																	66766325		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.846G>C	16.37:g.66766325C>G	ENSP00000258198:p.Leu282Phe		A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	pfam_Dynein_light_int_chain	p.L282F	ENST00000258198.2	37	c.846	CCDS10818.1	16	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684523	0.68157	.	.	ENSG00000135720	ENST00000258198;ENST00000443351;ENST00000440564	T;T;T	0.27402	1.67;1.67;1.67	5.31	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	M	0.75777	2.31	0.80722	D	1	D;P;D;P	0.89917	1.0;0.738;1.0;0.632	D;B;D;P	0.87578	0.998;0.33;0.995;0.464	T	0.59144	-0.7509	10	0.72032	D	0.01	-16.4306	12.6552	0.56784	0.0:0.9163:0.0:0.0837	.	243;282;205;282	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	F	282;205;243	ENSP00000258198:L282F;ENSP00000394289:L205F;ENSP00000408566:L243F	ENSP00000258198:L282F	L	-	3	2	DYNC1LI2	65323826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.820000	0.27323	1.387000	0.46486	0.563000	0.77884	TTG	DYNC1LI2	-	pfam_Dynein_light_int_chain	ENSG00000135720		0.378	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	HGNC	protein_coding	OTTHUMT00000268846.1	254	0.00	0	C	NM_006141		66766325	66766325	-1	no_errors	ENST00000258198	ensembl	human	known	69_37n	missense	121	39.50	79	SNP	1.000	G
ELAVL3	1995	genome.wustl.edu	37	19	11577604	11577605	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:11577604_11577605insC	ENST00000359227.3	-	2	471_472	c.47_48insG	c.(46-48)ggcfs	p.G16fs	CTC-398G3.6_ENST00000585656.1_Frame_Shift_Ins_p.G170fs|RN7SL669P_ENST00000581926.1_RNA|ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.G16fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	16					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ggccggccgggcccccccccAC	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.48dupG	19.37:g.11577613_11577613dupC	ENSP00000352162:p.Gly16fs		Q16135|Q96CL8|Q96QS9	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.A18fs	ENST00000359227.3	37	c.48_47	CCDS32912.1	19																																																																																			ELAVL3	-	NULL	ENSG00000196361		0.649	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2	107	0.00	0	-	NM_001420		11577604	11577605	-1	no_errors	ENST00000359227	ensembl	human	known	69_37n	frame_shift_ins	194	11.01	24	INS	1.000:1.000	C
EMILIN2	84034	genome.wustl.edu	37	18	2909793	2909793	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr18:2909793G>T	ENST00000254528.3	+	7	2959	c.2800G>T	c.(2800-2802)Ggg>Tgg	p.G934W	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	934	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGTGAACGACGGGGATGTTTA	0.582																																						dbGAP											0													121.0	106.0	111.0					18																	2909793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2800G>T	18.37:g.2909793G>T	ENSP00000254528:p.Gly934Trp		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.G934W	ENST00000254528.3	37	c.2800	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667187	0.67814	.	.	ENSG00000132205	ENST00000254528;ENST00000308080	T	0.05139	3.49	5.8	5.8	0.92144	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49457	-0.8938	10	0.87932	D	0	-35.1375	20.063	0.97692	0.0:0.0:1.0:0.0	.	934	Q9BXX0	EMIL2_HUMAN	W	934;211	ENSP00000254528:G934W	ENSP00000254528:G934W	G	+	1	0	EMILIN2	2899793	1.000000	0.71417	0.642000	0.29436	0.263000	0.26337	8.901000	0.92560	2.735000	0.93741	0.655000	0.94253	GGG	EMILIN2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q	ENSG00000132205		0.582	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	178	0.00	0	G	NM_032048		2909793	2909793	+1	no_errors	ENST00000254528	ensembl	human	known	69_37n	missense	74	22.92	22	SNP	1.000	T
ELP2	55250	genome.wustl.edu	37	18	33750135	33750135	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr18:33750135G>T	ENST00000358232.6	+	20	2249	c.2186G>T	c.(2185-2187)tGc>tTc	p.C729F	ELP2_ENST00000350494.6_Missense_Mutation_p.C724F|ELP2_ENST00000351393.6_Missense_Mutation_p.C703F|ELP2_ENST00000442325.2_Missense_Mutation_p.C794F|ELP2_ENST00000542824.1_Missense_Mutation_p.C659F|ELP2_ENST00000423854.2_Missense_Mutation_p.C659F	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	729					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GTCAGCGTCTGCCCAGTGCTC	0.527																																						dbGAP											0													155.0	124.0	135.0					18																	33750135		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2186G>T	18.37:g.33750135G>T	ENSP00000350967:p.Cys729Phe		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C729F	ENST00000358232.6	37	c.2186	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008794	0.35415	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.137802	0.64402	D	0.000003	T	0.61337	0.2339	L	0.50333	1.59	0.47183	D	0.999342	P;P;B;P;B;B	0.43885	0.713;0.82;0.408;0.543;0.071;0.408	B;B;B;B;B;B	0.40038	0.312;0.169;0.235;0.317;0.06;0.169	T	0.59101	-0.7517	10	0.09843	T	0.71	-0.7143	13.0019	0.58681	0.0:0.0:1.0:0.0	.	724;794;659;659;703;729	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	F	729;703;794;659;724;659	ENSP00000350967:C729F;ENSP00000257191:C703F;ENSP00000414851:C794F;ENSP00000391202:C659F;ENSP00000316051:C724F;ENSP00000443800:C659F	ENSP00000316051:C724F	C	+	2	0	ELP2	32004133	1.000000	0.71417	0.995000	0.50966	0.341000	0.28922	6.381000	0.73163	2.440000	0.82611	0.591000	0.81541	TGC	ELP2	-	superfamily_WD40_repeat_dom	ENSG00000134759		0.527	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	168	0.00	0	G	NM_018255		33750135	33750135	+1	no_errors	ENST00000358232	ensembl	human	known	69_37n	missense	165	30.96	74	SNP	1.000	T
ENPP4	22875	genome.wustl.edu	37	6	46108934	46108934	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:46108934T>G	ENST00000321037.4	+	3	1202	c.972T>G	c.(970-972)atT>atG	p.I324M		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	324					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						GCTGGACAATTGTGCTAAATG	0.333																																						dbGAP											0													91.0	80.0	84.0					6																	46108934		2203	4298	6501	-	-	-	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.972T>G	6.37:g.46108934T>G	ENSP00000318066:p.Ile324Met		A8K5G1|Q7L2N1	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.I324M	ENST00000321037.4	37	c.972	CCDS34468.1	6	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820410	0.50633	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.75050	-0.9	6.16	5.01	0.66863	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	M	0.89214	3.015	0.58432	D	0.999995	B	0.31459	0.324	B	0.41946	0.371	T	0.78091	-0.2339	10	0.72032	D	0.01	-14.1761	10.2171	0.43175	0.0:0.1378:0.0:0.8622	.	324	Q9Y6X5	ENPP4_HUMAN	M	324	ENSP00000318066:I324M	ENSP00000318066:I324M	I	+	3	3	ENPP4	46216893	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	0.758000	0.26447	1.165000	0.42670	0.528000	0.53228	ATT	ENPP4	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000001561		0.333	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2	243	0.00	0	T			46108934	46108934	+1	no_errors	ENST00000321037	ensembl	human	known	69_37n	missense	169	34.98	92	SNP	0.997	G
ENTPD7	57089	genome.wustl.edu	37	10	101455752	101455752	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:101455752G>C	ENST00000370489.4	+	9	1061	c.883G>C	c.(883-885)Ggc>Cgc	p.G295R		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	295						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)		GTTCAACCTGGGCTGTGATGT	0.458																																						dbGAP											0													129.0	116.0	121.0					10																	101455752		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.883G>C	10.37:g.101455752G>C	ENSP00000359520:p.Gly295Arg		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.G295R	ENST00000370489.4	37	c.883	CCDS7480.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118451	0.77323	.	.	ENSG00000198018	ENST00000370489	T	0.11712	2.75	4.85	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.06807	-1.0806	10	0.40728	T	0.16	-18.4977	14.8409	0.70223	0.0:0.0:0.8549:0.1451	.	295	Q9NQZ7	ENTP7_HUMAN	R	295	ENSP00000359520:G295R	ENSP00000359520:G295R	G	+	1	0	ENTPD7	101445742	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.601000	0.98297	1.379000	0.46325	-0.181000	0.13052	GGC	ENTPD7	-	pfam_GDA1_CD39_NTPase	ENSG00000198018		0.458	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD7	HGNC	protein_coding	OTTHUMT00000049809.2	223	0.00	0	G	NM_020354		101455752	101455752	+1	no_errors	ENST00000370489	ensembl	human	known	69_37n	missense	71	76.16	230	SNP	1.000	C
EPB41L3	23136	genome.wustl.edu	37	18	5434036	5434036	+	Silent	SNP	G	G	T	rs143402263	byFrequency	TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr18:5434036G>T	ENST00000341928.2	-	7	1030	c.690C>A	c.(688-690)tcC>tcA	p.S230S	EPB41L3_ENST00000544123.1_Silent_p.S230S|EPB41L3_ENST00000342933.3_Silent_p.S230S|EPB41L3_ENST00000540638.2_Silent_p.S230S|EPB41L3_ENST00000400111.3_Silent_p.S230S|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	230	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGACAGTGTAGGAGCCCAGCA	0.522																																						dbGAP											0													140.0	123.0	128.0					18																	5434036		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.690C>A	18.37:g.5434036G>T			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,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.S230	ENST00000341928.2	37	c.690	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	ENSG00000082397		0.522	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	237	0.00	0	G	NM_012307		5434036	5434036	-1	no_errors	ENST00000341928	ensembl	human	known	69_37n	silent	200	18.62	46	SNP	0.998	T
EPPK1	83481	genome.wustl.edu	37	8	144941722	144941722	+	Silent	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:144941722C>G	ENST00000525985.1	-	2	5771	c.5700G>C	c.(5698-5700)gcG>gcC	p.A1900A				P58107	EPIPL_HUMAN	epiplakin 1	1900						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGTGACCCCCGCAATGCAGC	0.632																																						dbGAP											0													24.0	27.0	26.0					8																	144941722		2097	4210	6307	-	-	-	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5700G>C	8.37:g.144941722C>G			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.A1900	ENST00000525985.1	37	c.5700		8																																																																																			EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000227184		0.632	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	193	0.00	0	C	NM_031308		144941722	144941722	-1	no_errors	ENST00000525985	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	0.069	G
ERGIC1	57222	genome.wustl.edu	37	5	172336761	172336761	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:172336761G>A	ENST00000393784.3	+	4	386	c.247G>A	c.(247-249)Gag>Aag	p.E83K	ERGIC1_ENST00000326654.2_Missense_Mutation_p.E38K|ERGIC1_ENST00000523291.1_Missense_Mutation_p.E83K	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	83					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGCACTGCGAGTGTGAGTA	0.542																																						dbGAP											0													216.0	150.0	173.0					5																	172336761		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.247G>A	5.37:g.172336761G>A	ENSP00000377374:p.Glu83Lys		Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	pfam_DUF1692	p.E83K	ENST00000393784.3	37	c.247	CCDS34292.1	5	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119422	0.77323	.	.	ENSG00000113719	ENST00000393784;ENST00000520326;ENST00000523291;ENST00000518247;ENST00000326654	.	.	.	5.11	5.11	0.69529	.	0.096631	0.64402	D	0.000001	T	0.77287	0.4108	M	0.66939	2.045	0.80722	D	1	D;B	0.89917	1.0;0.077	D;B	0.66716	0.946;0.02	T	0.78848	-0.2042	9	0.54805	T	0.06	-17.8323	18.18	0.89775	0.0:0.0:1.0:0.0	.	38;83	Q969X5-3;Q969X5	.;ERGI1_HUMAN	K	83;83;83;38;38	.	ENSP00000325127:E38K	E	+	1	0	ERGIC1	172269367	1.000000	0.71417	0.696000	0.30242	0.767000	0.43475	9.543000	0.98089	2.358000	0.79984	0.563000	0.77884	GAG	ERGIC1	-	NULL	ENSG00000113719		0.542	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	HGNC	protein_coding	OTTHUMT00000252938.3	118	0.00	0	G	NM_020462		172336761	172336761	+1	no_errors	ENST00000393784	ensembl	human	known	69_37n	missense	62	19.48	15	SNP	1.000	A
ESYT3	83850	genome.wustl.edu	37	3	138153870	138153870	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:138153870G>A	ENST00000389567.4	+	1	416	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ESYT3_ENST00000289135.4_Missense_Mutation_p.R77H	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	77					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AGGAACCGCCGCGGGAAGCTT	0.657																																						dbGAP											0													13.0	15.0	14.0					3																	138153870		2167	4260	6427	-	-	-	SO:0001583	missense	0			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.230G>A	3.37:g.138153870G>A	ENSP00000374218:p.Arg77His		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.R77H	ENST00000389567.4	37	c.230	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937715	0.73557	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	T;T	0.77229	-1.08;-1.08	4.37	2.43	0.29744	.	0.449943	0.23660	N	0.045837	T	0.62648	0.2445	L	0.60455	1.87	0.38449	D	0.94691	P	0.49358	0.923	B	0.32289	0.143	T	0.61063	-0.7138	10	0.42905	T	0.14	-25.9387	4.1473	0.10222	0.133:0.0:0.6437:0.2233	.	77	A0FGR9	ESYT3_HUMAN	H	77	ENSP00000374218:R77H;ENSP00000289135:R77H	ENSP00000289135:R77H	R	+	2	0	ESYT3	139636560	0.717000	0.27966	0.998000	0.56505	0.980000	0.70556	0.979000	0.29500	0.490000	0.27771	0.561000	0.74099	CGC	ESYT3	-	NULL	ENSG00000158220		0.657	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	27	0.00	0	G	NM_031913		138153870	138153870	+1	no_errors	ENST00000389567	ensembl	human	known	69_37n	missense	15	42.31	11	SNP	0.995	A
EYS	346007	genome.wustl.edu	37	6	64436527	64436527	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:64436527C>G	ENST00000370621.3	-	43	8707	c.8181G>C	c.(8179-8181)tgG>tgC	p.W2727C	EYS_ENST00000503581.1_Missense_Mutation_p.W2706C|EYS_ENST00000370616.2_Missense_Mutation_p.W2727C			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2727	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAAAAGACATCCAGGATAACT	0.398																																						dbGAP											0													85.0	70.0	74.0					6																	64436527		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.8181G>C	6.37:g.64436527C>G	ENSP00000359655:p.Trp2727Cys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.W2727C	ENST00000370621.3	37	c.8181		6	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318937	0.60524	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.79352	-1.26;-0.37;-0.37	3.55	3.55	0.40652	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.69815	0.3153	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72669	-0.4223	9	0.35671	T	0.21	.	13.3044	0.60345	0.0:1.0:0.0:0.0	.	2706;2727	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	C	2706;2727;2727	ENSP00000424243:W2706C;ENSP00000359655:W2727C;ENSP00000359650:W2727C	ENSP00000359650:W2727C	W	-	3	0	EYS	64494486	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.429000	0.73387	1.543000	0.49345	0.491000	0.48974	TGG	EYS	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000188107		0.398	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	116	0.00	0	C	XM_294050		64436527	64436527	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	missense	167	17.73	36	SNP	1.000	G
FABP2	2169	genome.wustl.edu	37	4	120243210	120243210	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:120243210G>C	ENST00000274024.3	-	1	335	c.48C>G	c.(46-48)gaC>gaG	p.D16E		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	16					digestion (GO:0007586)	cytoplasm (GO:0005737)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8					Estradiol(DB00783)|Ibuprofen(DB01050)|Sulfinpyrazone(DB01138)	CCATGAACTTGTCATAGTTTT	0.403																																						dbGAP											0													207.0	208.0	208.0					4																	120243210		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03465	CCDS3712.1	4q28-q31	2013-03-01			ENSG00000145384	ENSG00000145384		"""Fatty acid binding protein family"""	3556	protein-coding gene	gene with protein product		134640					Standard	NM_000134		Approved	I-FABP	uc003icw.3	P12104	OTTHUMG00000132972	ENST00000274024.3:c.48C>G	4.37:g.120243210G>C	ENSP00000274024:p.Asp16Glu		Q2NKJ1	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.D16E	ENST00000274024.3	37	c.48	CCDS3712.1	4	.	.	.	.	.	.	.	.	.	.	G	4.255	0.046421	0.08243	.	.	ENSG00000145384	ENST00000274024	T	0.45668	0.89	5.56	1.66	0.24008	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.329345	0.36482	N	0.002567	T	0.20861	0.0502	N	0.17379	0.485	0.38487	D	0.947884	B	0.06786	0.001	B	0.14578	0.011	T	0.09907	-1.0653	10	0.19147	T	0.46	.	4.9056	0.13797	0.0718:0.248:0.4555:0.2248	.	16	P12104	FABPI_HUMAN	E	16	ENSP00000274024:D16E	ENSP00000274024:D16E	D	-	3	2	FABP2	120462658	0.912000	0.30974	0.990000	0.47175	0.608000	0.37181	-0.180000	0.09754	-0.225000	0.09913	-1.119000	0.02030	GAC	FABP2	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	ENSG00000145384		0.403	FABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP2	HGNC	protein_coding	OTTHUMT00000256531.1	340	0.00	0	G	NM_000134		120243210	120243210	-1	no_errors	ENST00000274024	ensembl	human	known	69_37n	missense	58	82.58	275	SNP	0.985	C
FAM131B	9715	genome.wustl.edu	37	7	143054107	143054107	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:143054107C>T	ENST00000409408.1	-	6	2243	c.535G>A	c.(535-537)Gct>Act	p.A179T	FAM131B_ENST00000409346.1_Missense_Mutation_p.A179T|FAM131B_ENST00000443739.2_Missense_Mutation_p.A207T|FAM131B_ENST00000409578.1_Missense_Mutation_p.A195T|FAM131B_ENST00000409222.3_Missense_Mutation_p.A179T			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	179										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGTGCTTGAGCCAGGGCATCT	0.547																																						dbGAP											0													40.0	35.0	36.0					7																	143054107		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.535G>A	7.37:g.143054107C>T	ENSP00000387017:p.Ala179Thr		A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	NULL	p.A207T	ENST00000409408.1	37	c.619	CCDS5882.1	7	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774861	0.31411	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.46	3.66	0.41972	.	0.204214	0.50627	N	0.000101	T	0.21227	0.0511	L	0.51422	1.61	0.49130	D	0.999759	B;B	0.20052	0.001;0.041	B;B	0.14578	0.004;0.011	T	0.04607	-1.0939	10	0.11485	T	0.65	-31.3557	11.6752	0.51425	0.0:0.8573:0.0:0.1427	.	195;179	Q86XD5-2;Q86XD5	.;F131B_HUMAN	T	207;195;179;183;179;179	ENSP00000410603:A207T;ENSP00000386568:A195T;ENSP00000386984:A179T;ENSP00000387017:A179T;ENSP00000387147:A179T	ENSP00000387147:A179T	A	-	1	0	FAM131B	142764229	0.264000	0.24093	0.605000	0.28930	0.984000	0.73092	0.711000	0.25764	0.681000	0.31386	0.655000	0.94253	GCT	FAM131B	-	NULL	ENSG00000159784		0.547	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	HGNC	protein_coding	OTTHUMT00000328057.1	45	0.00	0	C	NM_014690		143054107	143054107	-1	no_errors	ENST00000443739	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	0.985	T
FAM169A	26049	genome.wustl.edu	37	5	74109758	74109758	+	Missense_Mutation	SNP	C	C	A	rs373598356		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:74109758C>A	ENST00000389156.4	-	6	667	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Intron	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	193						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						AGCCCAAAATCTTTACCTCTG	0.398																																						dbGAP											0													123.0	120.0	121.0					5																	74109758		1854	4087	5941	-	-	-	SO:0001583	missense	0				CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.577G>T	5.37:g.74109758C>A	ENSP00000373808:p.Asp193Tyr		A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	NULL	p.D193Y	ENST00000389156.4	37	c.577	CCDS43330.1	5	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383637	0.82792	.	.	ENSG00000198780	ENST00000389156;ENST00000513277	T;T	0.13538	2.58;2.58	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000014	T	0.36193	0.0958	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.04752	-1.0929	10	0.62326	D	0.03	-22.6079	18.9394	0.92600	0.0:1.0:0.0:0.0	.	193	Q9Y6X4	F169A_HUMAN	Y	193	ENSP00000373808:D193Y;ENSP00000423631:D193Y	ENSP00000373808:D193Y	D	-	1	0	FAM169A	74145514	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.719000	0.61937	2.455000	0.83008	0.655000	0.94253	GAT	FAM169A	-	NULL	ENSG00000198780		0.398	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169A	HGNC	protein_coding	OTTHUMT00000371092.2	153	0.00	0	C			74109758	74109758	-1	no_errors	ENST00000389156	ensembl	human	known	69_37n	missense	72	62.11	118	SNP	1.000	A
FAM179A	165186	genome.wustl.edu	37	2	29259480	29259480	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:29259480C>T	ENST00000379558.4	+	18	2843	c.2492C>T	c.(2491-2493)gCc>gTc	p.A831V	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A776V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	831										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGTCCTTCGCCAAGATGATC	0.498																																						dbGAP											0													125.0	105.0	112.0					2																	29259480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2492C>T	2.37:g.29259480C>T	ENSP00000368876:p.Ala831Val		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.A831V	ENST00000379558.4	37	c.2492	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	9.038	0.988861	0.18966	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.14516	2.5;2.5	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.266535	0.32802	N	0.005625	T	0.17152	0.0412	M	0.62723	1.935	0.09310	N	1	B;B;B	0.32753	0.211;0.041;0.383	B;B;B	0.32724	0.106;0.011;0.151	T	0.15521	-1.0434	10	0.29301	T	0.29	.	14.3603	0.66766	0.0:0.9291:0.0:0.0709	.	776;831;129	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	V	831;776	ENSP00000368876:A831V;ENSP00000384699:A776V	ENSP00000368876:A831V	A	+	2	0	FAM179A	29112984	0.001000	0.12720	0.924000	0.36721	0.265000	0.26407	1.385000	0.34408	2.873000	0.98535	0.561000	0.74099	GCC	FAM179A	-	superfamily_ARM-type_fold	ENSG00000189350		0.498	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	235	0.00	0	C	NM_199280		29259480	29259480	+1	no_errors	ENST00000379558	ensembl	human	known	69_37n	missense	134	37.09	79	SNP	0.011	T
FAM193B	54540	genome.wustl.edu	37	5	176963678	176963678	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:176963678C>T	ENST00000514747.1	-	4	805	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	FAM193B_ENST00000443375.2_Missense_Mutation_p.G140S|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000508298.1_Intron	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	253	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						GGGTGGTGGCCGGTGGGGCTG	0.652																																						dbGAP											0													13.0	16.0	15.0					5																	176963678		2070	4191	6261	-	-	-	SO:0001583	missense	0				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.757G>A	5.37:g.176963678C>T	ENSP00000422131:p.Gly253Ser		E9PET5|Q9NW00	Missense_Mutation	SNP	NULL	p.G140S	ENST00000514747.1	37	c.418	CCDS54954.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.134935	0.94517	.	.	ENSG00000146067	ENST00000514747;ENST00000443375	T;T	0.64260	-0.09;-0.09	5.22	4.35	0.52113	.	.	.	.	.	T	0.70902	0.3277	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	T	0.71371	-0.4613	9	0.46703	T	0.11	-7.9609	13.6185	0.62123	0.0:0.9256:0.0:0.0744	.	140	E9PEZ8	.	S	253;140	ENSP00000422131:G253S;ENSP00000410098:G140S	ENSP00000410098:G140S	G	-	1	0	FAM193B	176896284	1.000000	0.71417	0.970000	0.41538	0.989000	0.77384	5.625000	0.67770	1.203000	0.43233	0.462000	0.41574	GGC	FAM193B	-	NULL	ENSG00000146067		0.652	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	HGNC	protein_coding	OTTHUMT00000373121.1	123	0.00	0	C	NM_019057		176963678	176963678	-1	no_errors	ENST00000443375	ensembl	human	known	69_37n	missense	83	25.23	28	SNP	0.994	T
FAM208B	54906	genome.wustl.edu	37	10	5791187	5791187	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:5791187A>C	ENST00000328090.5	+	15	6428	c.5803A>C	c.(5803-5805)Aaa>Caa	p.K1935Q		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1935																	AAAAGAACTCAAAGATACCAT	0.517																																						dbGAP											0													39.0	40.0	40.0					10																	5791187		2020	4170	6190	-	-	-	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5803A>C	10.37:g.5791187A>C	ENSP00000328426:p.Lys1935Gln		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.K1935Q	ENST00000328090.5	37	c.5803	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	A	10.18	1.278963	0.23307	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.06849	3.25	5.82	3.46	0.39613	.	0.665083	0.15027	N	0.284666	T	0.06371	0.0164	L	0.39898	1.24	0.09310	N	1	B	0.34372	0.451	B	0.26517	0.07	T	0.34925	-0.9809	10	0.37606	T	0.19	.	6.4692	0.21999	0.7615:0.1581:0.0804:0.0	.	1935	Q5VWN6	F208B_HUMAN	Q	1935;1130	ENSP00000328426:K1935Q	ENSP00000328426:K1935Q	K	+	1	0	C10orf18	5831193	0.077000	0.21312	0.002000	0.10522	0.031000	0.12232	1.407000	0.34657	0.458000	0.26988	0.460000	0.39030	AAA	FAM208B	-	NULL	ENSG00000108021		0.517	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	45	0.00	0	A	NM_017782		5791187	5791187	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	missense	20	82.76	96	SNP	0.242	C
FAM221B	392307	genome.wustl.edu	37	9	35819000	35819000	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:35819000C>T	ENST00000423537.2	-	6	1327	c.1058G>A	c.(1057-1059)tGc>tAc	p.C353Y	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	353										endometrium(2)|kidney(1)|lung(4)	7						ACAGCCGCAGCAACAGCCTGG	0.552																																						dbGAP											0													54.0	59.0	58.0					9																	35819000		692	1591	2283	-	-	-	SO:0001583	missense	0			BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.1058G>A	9.37:g.35819000C>T	ENSP00000415299:p.Cys353Tyr		Q5TCW2	Missense_Mutation	SNP	NULL	p.C353Y	ENST00000423537.2	37	c.1058	CCDS43799.2	9	.	.	.	.	.	.	.	.	.	.	C	5.044	0.193763	0.09599	.	.	ENSG00000204930	ENST00000423537	T	0.16457	2.34	5.66	-1.48	0.08745	.	.	.	.	.	T	0.07279	0.0184	N	0.25144	0.715	0.09310	N	1	B	0.19817	0.039	B	0.15052	0.012	T	0.40813	-0.9543	9	0.02654	T	1	-1.3772	4.0576	0.09824	0.2588:0.413:0.0:0.3282	.	353	A6H8Z2	CI128_HUMAN	Y	353	ENSP00000415299:C353Y	ENSP00000415299:C353Y	C	-	2	0	C9orf128	35809000	0.851000	0.29673	0.832000	0.32986	0.232000	0.25224	-0.220000	0.09215	-0.157000	0.11059	0.558000	0.71614	TGC	FAM221B	-	NULL	ENSG00000204930		0.552	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM221B	HGNC	protein_coding	OTTHUMT00000355861.1	130	0.00	0	C	NM_001012446		35819000	35819000	-1	no_errors	ENST00000423537	ensembl	human	known	69_37n	missense	102	25.55	35	SNP	0.310	T
FAM26E	254228	genome.wustl.edu	37	6	116832913	116832913	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:116832913T>G	ENST00000368599.3	+	1	105	c.54T>G	c.(52-54)atT>atG	p.I18M	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	18					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AAACTGTTATTGGCTACAGCT	0.453																																						dbGAP											0													112.0	115.0	114.0					6																	116832913		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.54T>G	6.37:g.116832913T>G	ENSP00000357588:p.Ile18Met		B2RDJ9|B3KSR3	Missense_Mutation	SNP	NULL	p.I18M	ENST00000368599.3	37	c.54	CCDS5108.1	6	.	.	.	.	.	.	.	.	.	.	T	11.76	1.734003	0.30684	.	.	ENSG00000178033	ENST00000368599	T	0.20069	2.1	5.63	-1.24	0.09435	.	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	M	0.83012	2.62	0.49687	D	0.999813	P	0.39131	0.661	P	0.46940	0.532	T	0.04915	-1.0918	10	0.66056	D	0.02	-15.3344	4.183	0.10385	0.355:0.2012:0.0:0.4438	.	18	Q8N5C1	FA26E_HUMAN	M	18	ENSP00000357588:I18M	ENSP00000357588:I18M	I	+	3	3	FAM26E	116939606	0.890000	0.30428	0.917000	0.36280	0.071000	0.16799	-0.060000	0.11712	-0.123000	0.11745	-0.274000	0.10170	ATT	FAM26E	-	NULL	ENSG00000178033		0.453	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26E	HGNC	protein_coding	OTTHUMT00000041956.1	245	0.00	0	T	NM_153711		116832913	116832913	+1	no_errors	ENST00000368599	ensembl	human	known	69_37n	missense	158	18.97	37	SNP	0.993	G
FAM53B	9679	genome.wustl.edu	37	10	126370309	126370310	+	Frame_Shift_Ins	INS	-	-	CCAA			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:126370309_126370310insCCAA	ENST00000337318.3	-	4	983_984	c.772_773insTTGG	c.(772-774)agafs	p.R258fs	FAM53B_ENST00000280780.6_Frame_Shift_Ins_p.R258fs|FAM53B_ENST00000392754.3_Frame_Shift_Ins_p.R258fs|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	258										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCTGGAGCGTCTCGCCAGCTCT	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.772_773insTTGG	10.37:g.126370309_126370310insCCAA	ENSP00000338532:p.Arg258fs		D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Frame_Shift_Ins	INS	NULL	p.R258fs	ENST00000337318.3	37	c.773_772	CCDS7641.1	10																																																																																			FAM53B	-	NULL	ENSG00000189319		0.589	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53B	HGNC	protein_coding	OTTHUMT00000050879.1	61	0.00	0	-	NM_014661		126370309	126370310	-1	no_errors	ENST00000337318	ensembl	human	known	69_37n	frame_shift_ins	28	22.22	8	INS	0.688:0.034	CCAA
BRINP2	57795	genome.wustl.edu	37	1	177245552	177245552	+	Silent	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:177245552C>A	ENST00000361539.4	+	6	1306	c.994C>A	c.(994-996)Cgg>Agg	p.R332R	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	332					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CACTCACAACCGGCAGTTTGA	0.557																																						dbGAP											0													56.0	51.0	53.0					1																	177245552		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.994C>A	1.37:g.177245552C>A			O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	pfam_MACPF,smart_MACPF	p.R332	ENST00000361539.4	37	c.994	CCDS1320.1	1																																																																																			FAM5B	-	NULL	ENSG00000198797		0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	67	0.00	0	C	NM_021165		177245552	177245552	+1	no_errors	ENST00000361539	ensembl	human	known	69_37n	silent	44	25.42	15	SNP	0.938	A
FAT2	2196	genome.wustl.edu	37	5	150946624	150946624	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:150946624G>A	ENST00000261800.5	-	1	1881	c.1869C>T	c.(1867-1869)cgC>cgT	p.R623R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	623	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATAAAAGGGCGTTTGAGGG	0.398																																						dbGAP											0													104.0	106.0	105.0					5																	150946624		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1869C>T	5.37:g.150946624G>A			O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R623	ENST00000261800.5	37	c.1869	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.398	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	308	0.00	0	G	NM_001447		150946624	150946624	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	silent	149	19.89	37	SNP	0.000	A
FBLN2	2199	genome.wustl.edu	37	3	13661229	13661229	+	Splice_Site	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:13661229G>A	ENST00000295760.7	+	8	2122		c.e8-1		FBLN2_ENST00000404922.3_Splice_Site|FBLN2_ENST00000492059.1_Splice_Site|FBLN2_ENST00000535798.1_Splice_Site	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GTTTCCTCCAGACAATGGACC	0.567																																						dbGAP											0													82.0	84.0	84.0					3																	13661229		2056	4186	6242	-	-	-	SO:0001630	splice_region_variant	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2054-1G>A	3.37:g.13661229G>A			B7Z9C5|Q8IUI0|Q8IUI1	Splice_Site	SNP	-	e7-1	ENST00000295760.7	37	c.2054-1	CCDS46762.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074429	0.76415	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5308	0.90992	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBLN2	13636230	1.000000	0.71417	0.973000	0.42090	0.880000	0.50808	8.672000	0.91181	2.463000	0.83235	0.643000	0.83706	.	FBLN2	-	-	ENSG00000163520		0.567	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	210	0.00	0	G	NM_001004019	Intron	13661229	13661229	+1	no_errors	ENST00000404922	ensembl	human	known	69_37n	splice_site	68	17.07	14	SNP	1.000	A
FBLN2	2199	genome.wustl.edu	37	3	13661249	13661249	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:13661249G>A	ENST00000295760.7	+	8	2142	c.2073G>A	c.(2071-2073)caG>caA	p.Q691Q	FBLN2_ENST00000404922.3_Silent_p.Q691Q|FBLN2_ENST00000492059.1_Silent_p.Q691Q|FBLN2_ENST00000535798.1_Silent_p.Q717Q	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	691	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCTGCAAGCAGGTGTGCAGCA	0.587																																						dbGAP											0													91.0	94.0	93.0					3																	13661249		2080	4210	6290	-	-	-	SO:0001819	synonymous_variant	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2073G>A	3.37:g.13661249G>A			B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.Q691	ENST00000295760.7	37	c.2073	CCDS46762.1	3																																																																																			FBLN2	-	smart_EGF-like	ENSG00000163520		0.587	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	222	0.00	0	G	NM_001004019		13661249	13661249	+1	no_errors	ENST00000404922	ensembl	human	known	69_37n	silent	81	17.35	17	SNP	1.000	A
FBLN2	2199	genome.wustl.edu	37	3	13661268	13661268	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:13661268G>A	ENST00000295760.7	+	8	2161	c.2092G>A	c.(2092-2094)Ggc>Agc	p.G698S	FBLN2_ENST00000404922.3_Missense_Mutation_p.G698S|FBLN2_ENST00000492059.1_Missense_Mutation_p.G698S|FBLN2_ENST00000535798.1_Missense_Mutation_p.G724S	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	698	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CACTGTTGGGGGCTCAGCCAT	0.587																																						dbGAP											0													98.0	102.0	100.0					3																	13661268		2096	4216	6312	-	-	-	SO:0001583	missense	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2092G>A	3.37:g.13661268G>A	ENSP00000295760:p.Gly698Ser		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.G698S	ENST00000295760.7	37	c.2092	CCDS46762.1	3	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525719	0.27299	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.28	3.23	0.37069	Epidermal growth factor-like (1);	0.366091	0.27936	N	0.017250	D	0.89298	0.6675	M	0.74467	2.265	0.09310	N	1	P;P;P	0.51791	0.77;0.948;0.948	B;P;P	0.47430	0.345;0.547;0.547	T	0.82849	-0.0254	10	0.59425	D	0.04	.	10.7457	0.46179	0.2107:0.0:0.7893:0.0	.	698;698;724	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	S	724;698;698;698	ENSP00000445705:G724S;ENSP00000384169:G698S;ENSP00000295760:G698S;ENSP00000420042:G698S	ENSP00000295760:G698S	G	+	1	0	FBLN2	13636269	1.000000	0.71417	0.010000	0.14722	0.091000	0.18340	5.686000	0.68211	1.229000	0.43630	-0.148000	0.13756	GGC	FBLN2	-	smart_EGF-like	ENSG00000163520		0.587	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	236	0.00	0	G	NM_001004019		13661268	13661268	+1	no_errors	ENST00000404922	ensembl	human	known	69_37n	missense	92	13.21	14	SNP	0.002	A
FHAD1	114827	genome.wustl.edu	37	1	15707257	15707257	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:15707257G>T	ENST00000375998.4	+	27	3700	c.3700G>T	c.(3700-3702)Gat>Tat	p.D1234Y	FHAD1_ENST00000417793.1_Missense_Mutation_p.D1198Y|FHAD1_ENST00000358897.4_Missense_Mutation_p.D1234Y|FHAD1_ENST00000375999.3_Missense_Mutation_p.D1234Y|FHAD1_ENST00000314740.8_Missense_Mutation_p.D487Y|FHAD1_ENST00000471347.1_3'UTR			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	1234										skin(1)|stomach(1)	2						AGGGAAGATGGATGTGGCTGA	0.512																																						dbGAP											0													63.0	62.0	62.0					1																	15707257		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.3700G>T	1.37:g.15707257G>T	ENSP00000365166:p.Asp1234Tyr		Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.D1234Y	ENST00000375998.4	37	c.3700		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.08|14.08	2.429901|2.429901	0.43122|0.43122	.|.	.|.	ENSG00000142621|ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668|ENST00000444385	T;T;T;T;T;T;T|.	0.56103|.	0.49;0.5;0.48;0.49;0.56;0.55;0.56|.	5.16|5.16	4.25|4.25	0.50352|0.50352	.|.	.|.	.|.	.|.	.|.	T|T	0.53769|0.53769	0.1817|0.1817	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	1|1	D;D|.	0.76494|.	0.999;0.989|.	D;P|.	0.66497|.	0.944;0.781|.	T|T	0.45948|0.45948	-0.9226|-0.9226	9|5	0.72032|.	D|.	0.01|.	.|.	10.0029|10.0029	0.41940|0.41940	0.0947:0.0:0.9053:0.0|0.0947:0.0:0.9053:0.0	.|.	487;1234|.	B7WPP2;B1AJZ9|.	.;FHAD1_HUMAN|.	Y|C	1234;1198;1234;1234;505;487;469|552	ENSP00000351770:D1234Y;ENSP00000407615:D1198Y;ENSP00000365167:D1234Y;ENSP00000365166:D1234Y;ENSP00000434909:D505Y;ENSP00000322979:D487Y;ENSP00000318812:D469Y|.	ENSP00000318812:D469Y|.	D|W	+|+	1|3	0|0	FHAD1|FHAD1	15579844|15579844	0.977000|0.977000	0.34250|0.34250	0.017000|0.017000	0.16124|0.16124	0.001000|0.001000	0.01503|0.01503	2.475000|2.475000	0.45162|0.45162	1.300000|1.300000	0.44818|0.44818	-0.140000|-0.140000	0.14226|0.14226	GAT|TGG	FHAD1	-	NULL	ENSG00000142621		0.512	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	91	0.00	0	G	NM_052929		15707257	15707257	+1	no_errors	ENST00000375999	ensembl	human	known	69_37n	missense	44	35.29	24	SNP	0.073	T
FILIP1	27145	genome.wustl.edu	37	6	76022557	76022557	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:76022557G>A	ENST00000237172.7	-	5	3321	c.2991C>T	c.(2989-2991)ggC>ggT	p.G997G	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Silent_p.G997G|FILIP1_ENST00000370020.1_Silent_p.G898G	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	997								p.G997G(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTGCAAATGCGCCTCTTCCAC	0.483																																						dbGAP											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											104.0	98.0	100.0					6																	76022557		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2991C>T	6.37:g.76022557G>A			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.G997	ENST00000237172.7	37	c.2991	CCDS4984.1	6																																																																																			FILIP1	-	NULL	ENSG00000118407		0.483	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	229	0.00	0	G	XM_029179		76022557	76022557	-1	no_errors	ENST00000237172	ensembl	human	known	69_37n	silent	357	24.69	118	SNP	0.000	A
FLT3LG	2323	genome.wustl.edu	37	19	49982165	49982166	+	Splice_Site	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:49982165_49982166insC	ENST00000594009.1	+	5	421_422		c.e5-1		FLT3LG_ENST00000344019.3_Splice_Site|FLT3LG_ENST00000595510.1_Splice_Site|FLT3LG_ENST00000597551.1_Splice_Site|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000204637.2_Splice_Site|FLT3LG_ENST00000600429.1_Splice_Site|CTD-3148I10.15_ENST00000595815.1_RNA	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand						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)	p.S118fs*24(1)		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)		CCTGCTCCCAGCCCCCCCCCAG	0.688																																						dbGAP											1	Deletion - Frameshift(1)	upper_aerodigestive_tract(1)																																								-	-	-	SO:0001630	splice_region_variant	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.343-1->C	19.37:g.49982174_49982174dupC			A0AVC2|B9EGH2|Q05C96	Frame_Shift_Ins	INS	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	p.S118fs	ENST00000594009.1	37	c.344_343	CCDS12767.1	19																																																																																			FLT3LG	-	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	ENSG00000090554		0.688	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FLT3LG	HGNC	protein_coding	OTTHUMT00000465305.1	39	0.00	0	-		Intron	49982165	49982166	+1	no_errors	ENST00000204637	ensembl	human	known	69_37n	frame_shift_ins	48	11.11	6	INS	1.000:1.000	C
FOXH1	8928	genome.wustl.edu	37	8	145699932	145699932	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:145699932C>T	ENST00000377317.4	-	3	1365	c.787G>A	c.(787-789)Gga>Aga	p.G263R	FOXH1_ENST00000525197.1_5'Flank	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	263					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGGACCGTCCCCCAGGAACT	0.667																																						dbGAP											0													23.0	24.0	23.0					8																	145699932		2200	4296	6496	-	-	-	SO:0001583	missense	0			AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"""Forkhead boxes"""	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.787G>A	8.37:g.145699932C>T	ENSP00000366534:p.Gly263Arg		D3DWM4	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G263R	ENST00000377317.4	37	c.787	CCDS6428.1	8	.	.	.	.	.	.	.	.	.	.	C	9.943	1.218157	0.22373	.	.	ENSG00000160973	ENST00000377317	D	0.95788	-3.81	4.87	3.95	0.45737	.	0.971069	0.08425	N	0.947812	D	0.93025	0.7780	L	0.57536	1.79	0.09310	N	1	B	0.23316	0.083	B	0.19148	0.024	T	0.82833	-0.0262	10	0.17369	T	0.5	-23.5934	10.8785	0.46925	0.0:0.7016:0.2983:0.0	.	263	O75593	FOXH1_HUMAN	R	263	ENSP00000366534:G263R	ENSP00000366534:G263R	G	-	1	0	FOXH1	145670740	0.000000	0.05858	0.008000	0.14137	0.012000	0.07955	0.420000	0.21263	2.509000	0.84616	0.591000	0.81541	GGA	FOXH1	-	NULL	ENSG00000160973		0.667	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXH1	HGNC	protein_coding	OTTHUMT00000382451.1	26	0.00	0	C			145699932	145699932	-1	no_errors	ENST00000377317	ensembl	human	known	69_37n	missense	6	57.14	8	SNP	0.002	T
FOXRED1	55572	genome.wustl.edu	37	11	126145245	126145245	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:126145245G>C	ENST00000263578.5	+	6	729	c.655G>C	c.(655-657)Gac>Cac	p.D219H	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.D205H|FOXRED1_ENST00000442061.2_Missense_Mutation_p.D49H	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	219						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGGTTGGTTTGACCCCTGGTG	0.532																																						dbGAP											0													109.0	100.0	103.0					11																	126145245		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.655G>C	11.37:g.126145245G>C	ENSP00000263578:p.Asp219His		B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.D219H	ENST00000263578.5	37	c.655	CCDS8471.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.503630	0.96371	.	.	ENSG00000110074	ENST00000263578;ENST00000442061;ENST00000532125	D;D;D	0.82167	-1.58;-1.58;-1.58	5.77	5.77	0.91146	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91963	0.5580	10	0.87932	D	0	-32.9064	19.5806	0.95465	0.0:0.0:1.0:0.0	.	205;86;219	Q96CU9-3;B4DI59;Q96CU9	.;.;FXRD1_HUMAN	H	219;49;205	ENSP00000263578:D219H;ENSP00000404371:D49H;ENSP00000434178:D205H	ENSP00000263578:D219H	D	+	1	0	FOXRED1	125650455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.119000	0.94362	2.726000	0.93360	0.643000	0.83706	GAC	FOXRED1	-	pfam_FAD-dep_OxRdtase	ENSG00000110074		0.532	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED1	HGNC	protein_coding	OTTHUMT00000386434.1	297	0.00	0	G	NM_017547		126145245	126145245	+1	no_errors	ENST00000263578	ensembl	human	known	69_37n	missense	127	10.56	15	SNP	1.000	C
FSTL4	23105	genome.wustl.edu	37	5	132560879	132560879	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:132560879G>C	ENST00000265342.7	-	10	1524	c.1275C>G	c.(1273-1275)atC>atG	p.I425M	FSTL4_ENST00000507112.1_5'UTR|CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	425	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAGCGAGGAGATATCTTCAT	0.517																																						dbGAP											0													189.0	158.0	169.0					5																	132560879		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1275C>G	5.37:g.132560879G>C	ENSP00000265342:p.Ile425Met		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.I425M	ENST00000265342.7	37	c.1275	CCDS34238.1	5	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620179	0.66787	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.67171	-0.25	5.91	0.945	0.19543	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	N	0.24115	0.695	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	T	0.62728	-0.6793	10	0.87932	D	0	-44.0344	4.2515	0.10696	0.3387:0.0:0.418:0.2434	.	425	Q6MZW2	FSTL4_HUMAN	M	425;256	ENSP00000265342:I425M	ENSP00000265342:I425M	I	-	3	3	FSTL4	132588778	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.931000	0.28871	0.368000	0.24481	0.655000	0.94253	ATC	FSTL4	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000053108		0.517	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	HGNC	protein_coding	OTTHUMT00000370212.1	205	0.00	0	G	XM_048786		132560879	132560879	-1	no_errors	ENST00000265342	ensembl	human	known	69_37n	missense	101	21.54	28	SNP	0.997	C
GALNT5	11227	genome.wustl.edu	37	2	158114775	158114775	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:158114775C>T	ENST00000259056.4	+	1	666	c.181C>T	c.(181-183)Cca>Tca	p.P61S		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	61					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						CAGAGTTCAGCCAGACCAAGG	0.473																																						dbGAP											0													118.0	130.0	126.0					2																	158114775		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.181C>T	2.37:g.158114775C>T	ENSP00000259056:p.Pro61Ser		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.P61S	ENST00000259056.4	37	c.181	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611546	0.28712	.	.	ENSG00000136542	ENST00000259056	T	0.56275	0.47	5.51	2.66	0.31614	.	1.644620	0.03270	N	0.184589	T	0.38852	0.1056	N	0.17082	0.46	0.30476	N	0.772819	B	0.15141	0.012	B	0.14578	0.011	T	0.29792	-1.0000	10	0.14252	T	0.57	.	10.3293	0.43812	0.0:0.677:0.252:0.0711	.	61	Q7Z7M9	GALT5_HUMAN	S	61	ENSP00000259056:P61S	ENSP00000259056:P61S	P	+	1	0	GALNT5	157823021	0.966000	0.33281	0.978000	0.43139	0.718000	0.41266	0.413000	0.21148	0.340000	0.23745	0.655000	0.94253	CCA	GALNT5	-	NULL	ENSG00000136542		0.473	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	214	0.00	0	C	NM_014568		158114775	158114775	+1	no_errors	ENST00000259056	ensembl	human	known	69_37n	missense	75	70.24	177	SNP	0.997	T
GALNTL5	168391	genome.wustl.edu	37	7	151680081	151680081	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:151680081A>G	ENST00000392800.2	+	4	633	c.379A>G	c.(379-381)Aaa>Gaa	p.K127E	GALNTL5_ENST00000431418.2_Missense_Mutation_p.K127E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	127					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GTGTCTTCAAAAACATTACCC	0.438																																						dbGAP											0													123.0	118.0	120.0					7																	151680081		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.379A>G	7.37:g.151680081A>G	ENSP00000376548:p.Lys127Glu		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.K127E	ENST00000392800.2	37	c.379	CCDS5929.1	7	.	.	.	.	.	.	.	.	.	.	A	13.72	2.321450	0.41096	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58797	0.31;0.31	4.65	4.65	0.58169	.	1.213940	0.06066	N	0.659258	T	0.62841	0.2461	L	0.49640	1.575	0.09310	N	1	P	0.52842	0.956	P	0.48454	0.578	T	0.53982	-0.8361	10	0.54805	T	0.06	.	12.3487	0.55136	1.0:0.0:0.0:0.0	.	127	Q7Z4T8	GLTL5_HUMAN	E	127	ENSP00000392582:K127E;ENSP00000376548:K127E	ENSP00000376548:K127E	K	+	1	0	GALNTL5	151311014	0.977000	0.34250	0.010000	0.14722	0.195000	0.23768	4.249000	0.58766	2.056000	0.61249	0.454000	0.30748	AAA	GALNTL5	-	NULL	ENSG00000106648		0.438	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL5	HGNC	protein_coding	OTTHUMT00000348395.1	134	0.00	0	A	NM_145292		151680081	151680081	+1	no_errors	ENST00000392800	ensembl	human	known	69_37n	missense	108	36.09	61	SNP	0.056	G
GALR3	8484	genome.wustl.edu	37	22	38219626	38219626	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:38219626delC	ENST00000249041.2	+	1	238	c.213delC	c.(211-213)ttcfs	p.F71fs		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	71					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					ACCTCTGCTTCATCCTGTGCT	0.642																																						dbGAP											0													121.0	83.0	96.0					22																	38219626		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF073799	CCDS13958.1	22q113.1	2012-08-08			ENSG00000128310	ENSG00000128310		"""GPCR / Class A : Galanin receptors"""	4134	protein-coding gene	gene with protein product		603692				9722565, 9832121	Standard	NM_003614		Approved		uc003aub.1	O60755	OTTHUMG00000150658	ENST00000249041.2:c.213delC	22.37:g.38219626delC	ENSP00000249041:p.Phe71fs		Q53YJ4	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Galnin_3_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.F71fs	ENST00000249041.2	37	c.213	CCDS13958.1	22																																																																																			GALR3	-	pfam_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000128310		0.642	GALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR3	HGNC	protein_coding	OTTHUMT00000319452.1	90	0.00	0	C			38219626	38219626	+1	no_errors	ENST00000249041	ensembl	human	known	69_37n	frame_shift_del	26	12.90	4	DEL	1.000	-
GARNL3	84253	genome.wustl.edu	37	9	130155392	130155392	+	Silent	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:130155392T>A	ENST00000373387.4	+	28	3253	c.2901T>A	c.(2899-2901)tcT>tcA	p.S967S	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Silent_p.S945S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	967					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AAAGTGCTTCTACTTCCGAAG	0.562																																						dbGAP											0													74.0	77.0	76.0					9																	130155392		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2901T>A	9.37:g.130155392T>A			B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP	p.S967	ENST00000373387.4	37	c.2901	CCDS6869.2	9																																																																																			GARNL3	-	NULL	ENSG00000136895		0.562	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	101	0.00	0	T	NM_032293		130155392	130155392	+1	no_errors	ENST00000373387	ensembl	human	known	69_37n	silent	44	16.98	9	SNP	0.000	A
GATA4	2626	genome.wustl.edu	37	8	11612575	11612575	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:11612575G>A	ENST00000335135.4	+	5	1488	c.930G>A	c.(928-930)atG>atA	p.M310I	GATA4_ENST00000532059.1_Missense_Mutation_p.M311I|GATA4_ENST00000528712.1_Missense_Mutation_p.M104I	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	310			M -> V (in ASD2). {ECO:0000269|PubMed:20347099}.		atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CTCTTGCAATGCGGAAAGAGG	0.463																																						dbGAP											0													62.0	63.0	63.0					8																	11612575		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.930G>A	8.37:g.11612575G>A	ENSP00000334458:p.Met310Ile		B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA	p.M310I	ENST00000335135.4	37	c.930	CCDS5983.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.090986	0.94149	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99660	-6.32;-6.32;-6.32;-6.32	5.92	5.92	0.95590	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	M	0.76838	2.35	0.80722	D	1	B;P	0.51351	0.347;0.944	P;P	0.58331	0.689;0.837	D	0.98766	1.0726	10	0.87932	D	0	-19.7751	19.3095	0.94179	0.0:0.0:1.0:0.0	.	311;310	B7ZKZ4;P43694	.;GATA4_HUMAN	I	104;104;310;309;311	ENSP00000435043:M104I;ENSP00000435347:M104I;ENSP00000334458:M310I;ENSP00000435712:M311I	ENSP00000259090:M309I	M	+	3	0	GATA4	11649984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.588000	0.98232	2.804000	0.96469	0.655000	0.94253	ATG	GATA4	-	smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA	ENSG00000136574		0.463	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA4	HGNC	protein_coding	OTTHUMT00000207587.2	121	0.00	0	G	NM_002052		11612575	11612575	+1	no_errors	ENST00000335135	ensembl	human	known	69_37n	missense	52	14.75	9	SNP	1.000	A
GCNT4	51301	genome.wustl.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs			Frame_Shift_Ins	INS	pfam_Glyco_trans_14	p.H294fs	ENST00000322348.4	37	c.881_880	CCDS4026.1	5																																																																																			GCNT4	-	pfam_Glyco_trans_14	ENSG00000176928		0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT4	HGNC	protein_coding	OTTHUMT00000254040.1	105	0.00	0	-	NM_016591		74324982	74324983	-1	no_errors	ENST00000322348	ensembl	human	known	69_37n	frame_shift_ins	56	11.11	7	INS	0.920:0.913	G
GLB1L3	112937	genome.wustl.edu	37	11	134181008	134181008	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:134181008C>G	ENST00000431683.2	+	13	1231	c.1231C>G	c.(1231-1233)Ccc>Gcc	p.P411A		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	411					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGTGTATCCCCCCGTGAGACC	0.612																																						dbGAP											0													211.0	216.0	214.0					11																	134181008		2026	4179	6205	-	-	-	SO:0001583	missense	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1231C>G	11.37:g.134181008C>G	ENSP00000396615:p.Pro411Ala		A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.P411A	ENST00000431683.2	37	c.1231	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	C	6.896	0.534811	0.13188	.	.	ENSG00000166105	ENST00000431683	D	0.96913	-4.17	4.87	-9.73	0.00512	.	0.517604	0.21968	N	0.066494	D	0.86977	0.6063	N	0.12887	0.27	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.68957	-0.5272	10	0.29301	T	0.29	.	11.7742	0.51977	0.0:0.3696:0.505:0.1254	.	411	Q8NCI6	GLBL3_HUMAN	A	411	ENSP00000396615:P411A	ENSP00000396615:P411A	P	+	1	0	GLB1L3	133686218	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.148000	0.00583	-2.416000	0.00567	0.455000	0.32223	CCC	GLB1L3	-	NULL	ENSG00000166105		0.612	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	162	0.00	0	C	NM_138416		134181008	134181008	+1	no_errors	ENST00000431683	ensembl	human	known	69_37n	missense	82	13.68	13	SNP	0.000	G
GLP2R	9340	genome.wustl.edu	37	17	9793011	9793011	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:9793011A>T	ENST00000262441.5	+	13	2164	c.1651A>T	c.(1651-1653)Agt>Tgt	p.S551C	GLP2R_ENST00000574745.1_Missense_Mutation_p.S371C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	551					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TCTGGAAGAGAGTGAGATCTA	0.617																																						dbGAP											0													30.0	24.0	26.0					17																	9793011		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1651A>T	17.37:g.9793011A>T	ENSP00000262441:p.Ser551Cys		Q4VAT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S551C	ENST00000262441.5	37	c.1651	CCDS11150.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.38|14.38	2.517380|2.517380	0.44763|0.44763	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206|ENST00000262441	.|T	.|0.62639	.|0.01	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.171757|.	0.28815|.	N|.	0.014045|.	.|T	.|0.73583	.|0.3605	L|L	0.46157|0.46157	1.445|1.445	0.47659|0.47659	D|D	0.999485|0.999485	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	.|T	.|0.75926	.|-0.3145	.|9	0.87932|0.87932	D|D	0|0	.|.	13.9705|13.9705	0.64237|0.64237	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|551	.|O95838	.|GLP2R_HUMAN	X|C	551|551	.|ENSP00000262441:S551C	ENSP00000379509:K551X|ENSP00000262441:S551C	K|S	+|+	1|1	0|0	GLP2R|GLP2R	9733736|9733736	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.684000|5.684000	0.68197|0.68197	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	AAG|AGT	GLP2R	-	NULL	ENSG00000065325		0.617	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	HGNC	protein_coding	OTTHUMT00000252601.4	50	0.00	0	A			9793011	9793011	+1	no_errors	ENST00000262441	ensembl	human	known	69_37n	missense	25	34.21	13	SNP	1.000	T
GOLGA2P5	55592	genome.wustl.edu	37	12	100552747	100552747	+	RNA	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:100552747G>A	ENST00000397112.4	-	0	1512				AC010203.1_ENST00000408843.1_RNA|RN7SL176P_ENST00000580352.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						TGGGTCTCCCGCAACTCTTGG	0.597																																						dbGAP											0																																										-	-	-			0																															12.37:g.100552747G>A			Q9NSV2	RNA	SNP	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2P5	-	-	ENSG00000238105		0.597	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	HGNC	pseudogene	OTTHUMT00000396439.2	42	0.00	0	G			100552747	100552747	-1	no_errors	ENST00000397112	ensembl	human	known	69_37n	rna	25	19.35	6	SNP	0.998	A
GOT1	2805	genome.wustl.edu	37	10	101157315	101157315	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:101157315T>G	ENST00000370508.5	-	9	1258	c.1231A>C	c.(1231-1233)Aaa>Caa	p.K411Q	GOT1_ENST00000543866.1_Missense_Mutation_p.K390Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	411					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CACTGGATTTTGGTGACTGCT	0.473																																					Melanoma(173;770 3544 21601)	dbGAP											0													331.0	263.0	286.0					10																	101157315		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.1231A>C	10.37:g.101157315T>G	ENSP00000359539:p.Lys411Gln		B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans	p.K411Q	ENST00000370508.5	37	c.1231	CCDS7479.1	10	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239651	0.58995	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	T;T	0.22134	1.97;1.97	4.86	4.86	0.63082	Pyridoxal phosphate-dependent transferase, major domain (1);	0.048852	0.85682	D	0.000000	T	0.18676	0.0448	L	0.33245	0.995	0.58432	D	0.99999	B	0.09022	0.002	B	0.04013	0.001	T	0.02789	-1.1110	10	0.59425	D	0.04	-12.9062	14.9098	0.70746	0.0:0.0:0.0:1.0	.	411	P17174	AATC_HUMAN	Q	411;364;390	ENSP00000359539:K411Q;ENSP00000445578:K390Q	ENSP00000359539:K411Q	K	-	1	0	GOT1	101147305	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.524000	0.81866	2.162000	0.67917	0.533000	0.62120	AAA	GOT1	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000120053		0.473	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT1	HGNC	protein_coding	OTTHUMT00000049794.1	287	0.00	0	T	NM_002079		101157315	101157315	-1	no_errors	ENST00000370508	ensembl	human	known	69_37n	missense	244	13.78	39	SNP	1.000	G
GOT1	2805	genome.wustl.edu	37	10	101157317	101157318	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:101157317_101157318insA	ENST00000370508.5	-	9	1255_1256	c.1228_1229insT	c.(1228-1230)accfs	p.T410fs	GOT1_ENST00000543866.1_Frame_Shift_Ins_p.T389fs	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	410					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CTGGATTTTGGTGACTGCTTCA	0.475																																					Melanoma(173;770 3544 21601)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.1228_1229insT	10.37:g.101157317_101157318insA	ENSP00000359539:p.Thr410fs		B2R6R7|B7Z7E9|Q5VW80	Frame_Shift_Ins	INS	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans	p.T410fs	ENST00000370508.5	37	c.1229_1228	CCDS7479.1	10																																																																																			GOT1	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000120053		0.475	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT1	HGNC	protein_coding	OTTHUMT00000049794.1	285	0.00	0	-	NM_002079		101157317	101157318	-1	no_errors	ENST00000370508	ensembl	human	known	69_37n	frame_shift_ins	241	12.36	34	INS	1.000:1.000	A
GPATCH8	23131	genome.wustl.edu	37	17	42475662	42475662	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:42475662C>G	ENST00000591680.1	-	8	3813	c.3783G>C	c.(3781-3783)caG>caC	p.Q1261H	GPATCH8_ENST00000434000.1_Missense_Mutation_p.Q1183H	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1261							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)		CAGGGCCTGGCTGACTGCTGC	0.572																																						dbGAP											0													127.0	125.0	126.0					17																	42475662		2203	4300	6503	-	-	-	SO:0001583	missense	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.3783G>C	17.37:g.42475662C>G	ENSP00000467556:p.Gln1261His		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.Q1261H	ENST00000591680.1	37	c.3783	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	C	0.627	-0.818609	0.02776	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13307	2.6	4.76	-7.79	0.01218	.	0.467404	0.22539	N	0.058742	T	0.06600	0.0169	N	0.24115	0.695	0.20074	N	0.999932	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	10	0.38643	T	0.18	-7.7142	10.5624	0.45152	0.0:0.3609:0.0928:0.5463	.	1261	Q9UKJ3	GPTC8_HUMAN	H	1261;1183	ENSP00000395016:Q1183H	ENSP00000335486:Q1261H	Q	-	3	2	GPATCH8	39831188	0.001000	0.12720	0.897000	0.35233	0.545000	0.35147	-2.496000	0.00970	-1.298000	0.02348	-1.334000	0.01262	CAG	GPATCH8	-	NULL	ENSG00000186566		0.572	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	126	0.00	0	C	NM_001002909		42475662	42475662	-1	no_errors	ENST00000591680	ensembl	human	known	69_37n	missense	211	28.43	85	SNP	0.033	G
GPR42	2866	genome.wustl.edu	37	19	35862267	35862267	+	Silent	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:35862267T>C	ENST00000454971.1	+	2	207	c.6T>C	c.(4-6)gaT>gaC	p.D2D	GPR42_ENST00000597214.1_Silent_p.D2D			O15529	GPR42_HUMAN	G protein-coupled receptor 42 (gene/pseudogene)	2						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)			CCACCATGGATACAGGCCCCG	0.602																																						dbGAP											0													16.0	15.0	15.0					19																	35862267		1537	2377	3914	-	-	-	SO:0001819	synonymous_variant	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.6T>C	19.37:g.35862267T>C				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.D2	ENST00000454971.1	37	c.6		19																																																																																			GPR42	-	NULL	ENSG00000126251		0.602	GPR42-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	GPR42	HGNC	protein_coding	OTTHUMT00000347518.1	26	0.00	0	T	NM_005305		35862267	35862267	+1	no_errors	ENST00000454971	ensembl	human	known	69_37n	silent	33	34.00	17	SNP	0.002	C
GRB2	2885	genome.wustl.edu	37	17	73389776	73389776	+	5'UTR	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:73389776C>A	ENST00000392562.1	-	0	716				GRB2_ENST00000316615.5_5'UTR|RP11-16C1.1_ENST00000578226.1_RNA|GRB2_ENST00000392564.1_5'UTR|GRB2_ENST00000392563.1_5'Flank|GRB2_ENST00000578961.1_5'UTR|GRB2_ENST00000316804.5_5'UTR			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2						aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTGAAGCAACCCAGCGCTCTG	0.577																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.-67G>T	17.37:g.73389776C>A			P29354|Q14450|Q63057|Q63059	RNA	SNP	-	NULL	ENST00000392562.1	37	NULL	CCDS11721.1	17																																																																																			GRB2	-	-	ENSG00000177885		0.577	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GRB2	HGNC	protein_coding	OTTHUMT00000259476.1	118	0.00	0	C			73389776	73389776	-1	no_errors	ENST00000583912	ensembl	human	known	69_37n	rna	194	10.60	23	SNP	0.961	A
GUSB	2990	genome.wustl.edu	37	7	65441060	65441063	+	Frame_Shift_Del	DEL	ACAC	ACAC	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	ACAC	ACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:65441060_65441063delACAC	ENST00000304895.4	-	5	981_984	c.851_854delGTGT	c.(850-855)ggtgtcfs	p.GV284fs	GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Frame_Shift_Del_p.GV284fs|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	284					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCAGAGGCTGACACCTGGCACCTT	0.534																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.851_854delGTGT	7.37:g.65441060_65441063delACAC	ENSP00000302728:p.Gly284fs		B4E1F6|E9PCV0|Q549U0|Q96CL9	Frame_Shift_Del	DEL	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.G284fs	ENST00000304895.4	37	c.854_851	CCDS5530.1	7																																																																																			GUSB	-	pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like	ENSG00000169919		0.534	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	35	0.00	0	ACAC	NM_000181		65441060	65441063	-1	no_errors	ENST00000304895	ensembl	human	known	69_37n	frame_shift_del	7	36.36	4	DEL	0.828:0.831:0.030:0.006	-
HECTD4	283450	genome.wustl.edu	37	12	112677797	112677797	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:112677797G>C	ENST00000430131.2	-	32	4872	c.3727C>G	c.(3727-3729)Cag>Gag	p.Q1243E	HECTD4_ENST00000550722.1_Missense_Mutation_p.Q1519E|HECTD4_ENST00000377560.5_Missense_Mutation_p.Q1493E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1243					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCCTGGACCTGCTCGACCATC	0.498																																						dbGAP											0													132.0	136.0	135.0					12																	112677797		1989	4163	6152	-	-	-	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3727C>G	12.37:g.112677797G>C	ENSP00000404379:p.Gln1243Glu		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.Q1493E	ENST00000430131.2	37	c.4477		12	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278112	0.80692	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.47528	0.84;0.84;0.84	6.17	6.17	0.99709	.	.	.	.	.	T	0.37598	0.1009	N	0.14661	0.345	0.54753	D	0.999989	B	0.17038	0.02	B	0.14578	0.011	T	0.12066	-1.0562	9	0.54805	T	0.06	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1243	Q9Y4D8	K0614_HUMAN	E	1493;1243;1519	ENSP00000366783:Q1493E;ENSP00000404379:Q1243E;ENSP00000449784:Q1519E	ENSP00000366783:Q1493E	Q	-	1	0	C12orf51	111162180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.429000	0.97481	2.941000	0.99782	0.655000	0.94253	CAG	HECTD4	-	NULL	ENSG00000173064		0.498	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		143	0.00	0	G	NM_173813		112677797	112677797	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	missense	104	29.25	43	SNP	1.000	C
HEG1	57493	genome.wustl.edu	37	3	124731785	124731786	+	Nonsense_Mutation	DNP	GT	GT	AC			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G|T	G|T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:124731785_124731786GT>AC	ENST00000311127.4	-	6	2704_2705	c.2637_2638AC>GT	c.(2635-2640)aaACag>aaGTag	p.Q880*	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	880					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AGCGAGAGCTGTTTTCCAGCTG	0.51																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2637_2638delinsAC	3.37:g.124731785_124731786delinsAC	ENSP00000311502:p.Gln880*		Q6NX66|Q8NC40|Q9BSV0	Nonsense_Mutation|Silent	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.Q880*|p.K879	ENST00000311127.4	37	c.2638|c.2637	CCDS46898.1	3																																																																																			HEG1	-	NULL	ENSG00000173706		0.510	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	360|356	0.00	0	G|T	XM_087386		124731785|124731786	124731785|124731786	-1	no_errors	ENST00000311127	ensembl	human	known	69_37n	nonsense|silent	210|213	57.82|57.03	292|284	SNP	0.014|0.004	A|C
HERC2P8	440366	genome.wustl.edu	37	16	33123885	33123885	+	IGR	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:33123885G>A								HERC2P8 (3099 upstream) : RP11-19N8.7 (16751 downstream)																							TGCCCACTGGGAGCTGCAGTG	0.522																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.33123885G>A				RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P8	-	-	ENSG00000261599	0	0.522					HERC2P8	HGNC			84	0.00	0	G			33123885	33123885	-1	no_errors	ENST00000567073	ensembl	human	known	69_37n	rna	48	32.39	23	SNP	1.000	A
HKDC1	80201	genome.wustl.edu	37	10	71003105	71003105	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:71003105A>C	ENST00000354624.5	+	7	992	c.859A>C	c.(859-861)Aac>Cac	p.N287H	HKDC1_ENST00000395086.2_Missense_Mutation_p.N287H	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	287	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCTCTCTCAACCCAGGAAA	0.602																																						dbGAP											0													64.0	68.0	66.0					10																	71003105		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.859A>C	10.37:g.71003105A>C	ENSP00000346643:p.Asn287His		B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.N287H	ENST00000354624.5	37	c.859	CCDS7288.1	10	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954945	0.73902	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.97328	-4.34;-4.34	5.23	4.07	0.47477	Hexokinase, C-terminal (1);	0.041961	0.85682	N	0.000000	D	0.97309	0.9120	M	0.81942	2.565	0.58432	D	0.999999	P	0.48503	0.911	P	0.50970	0.655	D	0.96894	0.9655	10	0.87932	D	0	-26.0735	12.1757	0.54184	0.8569:0.1431:0.0:0.0	.	287	Q2TB90	HKDC1_HUMAN	H	287	ENSP00000346643:N287H;ENSP00000378521:N287H	ENSP00000346643:N287H	N	+	1	0	HKDC1	70673111	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	7.223000	0.78033	0.973000	0.38340	0.533000	0.62120	AAC	HKDC1	-	pfam_Hexokinase_C	ENSG00000156510		0.602	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	75	0.00	0	A	NM_025130		71003105	71003105	+1	no_errors	ENST00000354624	ensembl	human	known	69_37n	missense	42	33.33	21	SNP	1.000	C
HMGXB4	10042	genome.wustl.edu	37	22	35684386	35684386	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:35684386C>A	ENST00000216106.5	+	9	1752	c.1624C>A	c.(1624-1626)Ctg>Atg	p.L542M	HMGXB4_ENST00000444518.2_Missense_Mutation_p.L433M	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	542					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGACACCGTCTGCAGGAAAC	0.453																																						dbGAP											0													102.0	84.0	90.0					22																	35684386		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1624C>A	22.37:g.35684386C>A	ENSP00000216106:p.Leu542Met		O75672|O75673|Q9UMT5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.L542M	ENST00000216106.5	37	c.1624	CCDS33641.1	22	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833678	0.71258	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	T;T	0.43688	0.94;1.02	5.07	2.95	0.34219	.	0.000000	0.64402	D	0.000001	T	0.61565	0.2357	M	0.76574	2.34	0.58432	D	0.999995	D	0.76494	0.999	D	0.85130	0.997	T	0.65813	-0.6077	10	0.87932	D	0	-6.5769	11.4695	0.50259	0.0:0.8511:0.0:0.1489	.	542	Q9UGU5	HMGX4_HUMAN	M	433;542	ENSP00000398302:L433M;ENSP00000216106:L542M	ENSP00000216106:L542M	L	+	1	2	HMGXB4	34014386	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.769000	0.62300	1.130000	0.42092	0.563000	0.77884	CTG	HMGXB4	-	NULL	ENSG00000100281		0.453	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	184	0.00	0	C	NM_005487		35684386	35684386	+1	no_errors	ENST00000216106	ensembl	human	known	69_37n	missense	181	18.10	40	SNP	1.000	A
HOMER3	9454	genome.wustl.edu	37	19	19042357	19042357	+	Frame_Shift_Del	DEL	C	C	-	rs375438043		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:19042357delC	ENST00000539827.1	-	7	1420	c.768delG	c.(766-768)tcgfs	p.S256fs	HOMER3_ENST00000221222.11_Frame_Shift_Del_p.S256fs|HOMER3_ENST00000433218.2_Frame_Shift_Del_p.S256fs|HOMER3_ENST00000392351.3_Frame_Shift_Del_p.S256fs|AC002985.3_ENST00000596918.1_3'UTR|HOMER3_ENST00000355887.6_Frame_Shift_Del_p.S256fs|HOMER3_ENST00000594794.1_Frame_Shift_Del_p.S47fs|HOMER3_ENST00000542541.2_Frame_Shift_Del_p.S256fs|HOMER3_ENST00000594439.1_Frame_Shift_Del_p.S220fs			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	256					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.S256S(1)		endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			GCTGTTCCAGCGACTGGCCCT	0.637																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											62.0	61.0	61.0					19																	19042357		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.768delG	19.37:g.19042357delC	ENSP00000439937:p.Ser256fs		E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Frame_Shift_Del	DEL	pfam_EVH1,smart_EVH1,pfscan_EVH1	p.L257fs	ENST00000539827.1	37	c.768	CCDS12391.1	19																																																																																			HOMER3	-	NULL	ENSG00000051128		0.637	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HOMER3	HGNC	protein_coding	OTTHUMT00000464607.1	32	0.00	0	C			19042357	19042357	-1	no_errors	ENST00000392351	ensembl	human	known	69_37n	frame_shift_del	13	69.77	30	DEL	0.071	-
HOMER3	9454	genome.wustl.edu	37	19	19042364	19042364	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:19042364C>G	ENST00000539827.1	-	7	1413	c.761G>C	c.(760-762)gGc>gCc	p.G254A	HOMER3_ENST00000221222.11_Missense_Mutation_p.G254A|HOMER3_ENST00000433218.2_Missense_Mutation_p.G254A|HOMER3_ENST00000392351.3_Missense_Mutation_p.G254A|AC002985.3_ENST00000596918.1_3'UTR|HOMER3_ENST00000355887.6_Missense_Mutation_p.G254A|HOMER3_ENST00000594794.1_Missense_Mutation_p.G45A|HOMER3_ENST00000542541.2_Missense_Mutation_p.G254A|HOMER3_ENST00000594439.1_Missense_Mutation_p.G218A			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	254					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			CAGCGACTGGCCCTGGCCCAG	0.637																																						dbGAP											0													58.0	58.0	58.0					19																	19042364		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.761G>C	19.37:g.19042364C>G	ENSP00000439937:p.Gly254Ala		E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Missense_Mutation	SNP	pfam_EVH1,smart_EVH1,pfscan_EVH1	p.G254A	ENST00000539827.1	37	c.761	CCDS12391.1	19	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255921	0.22965	.	.	ENSG00000051128	ENST00000392351;ENST00000433218;ENST00000542541;ENST00000221222;ENST00000539827;ENST00000355887	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	4.66	4.66	0.58398	.	0.637276	0.15541	N	0.256940	T	0.12347	0.0300	N	0.22421	0.69	0.23506	N	0.997534	B;B;B	0.16603	0.018;0.015;0.009	B;B;B	0.13407	0.004;0.009;0.004	T	0.16453	-1.0402	10	0.16896	T	0.51	.	14.3916	0.66983	0.0:1.0:0.0:0.0	.	218;254;254	E9PCW9;Q9NSC5-2;Q9NSC5	.;.;HOME3_HUMAN	A	254;254;254;218;254;254	ENSP00000376162:G254A;ENSP00000396154:G254A;ENSP00000446026:G254A;ENSP00000439937:G254A;ENSP00000348150:G254A	ENSP00000221222:G218A	G	-	2	0	HOMER3	18903364	0.995000	0.38212	0.291000	0.24904	0.106000	0.19336	0.305000	0.19254	2.440000	0.82611	0.555000	0.69702	GGC	HOMER3	-	NULL	ENSG00000051128		0.637	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HOMER3	HGNC	protein_coding	OTTHUMT00000464607.1	27	0.00	0	C			19042364	19042364	-1	no_errors	ENST00000392351	ensembl	human	known	69_37n	missense	11	72.50	29	SNP	0.721	G
HPS3	84343	genome.wustl.edu	37	3	148871420	148871420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:148871420delC	ENST00000296051.2	+	7	1525	c.1385delC	c.(1384-1386)tcafs	p.S462fs	HPS3_ENST00000460120.1_Frame_Shift_Del_p.S297fs	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	462					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGAAGACAGTCACCCAAGAGG	0.408									Hermansky-Pudlak syndrome																													dbGAP											0													87.0	92.0	91.0					3																	148871420		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1385delC	3.37:g.148871420delC	ENSP00000296051:p.Ser462fs		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Frame_Shift_Del	DEL	pirsf_BLOC-2_complex_Hps3_subunit	p.S462fs	ENST00000296051.2	37	c.1385	CCDS3140.1	3																																																																																			HPS3	-	pirsf_BLOC-2_complex_Hps3_subunit	ENSG00000163755		0.408	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	183	0.00	0	C	NM_032383		148871420	148871420	+1	no_errors	ENST00000296051	ensembl	human	known	69_37n	frame_shift_del	295	12.46	42	DEL	0.949	-
HSPG2	3339	genome.wustl.edu	37	1	22155911	22155911	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:22155911delC	ENST00000374695.3	-	87	12036	c.11957delG	c.(11956-11958)ggcfs	p.G3987fs	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3987	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGGTGGCCGCCCACCATCGC	0.647																																						dbGAP											0													49.0	50.0	50.0					1																	22155911		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11957delG	1.37:g.22155911delC	ENSP00000363827:p.Gly3987fs		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.G3986fs	ENST00000374695.3	37	c.11957	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000142798		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	36	0.00	0	C	NM_005529		22155911	22155911	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	frame_shift_del	3	40.00	2	DEL	0.800	-
ICAM4	3386	genome.wustl.edu	37	19	10398857	10398857	+	3'UTR	DEL	C	C	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:10398857delC	ENST00000380770.3	+	0	939				ICAM4_ENST00000340992.4_Frame_Shift_Del_p.G272fs|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_3'UTR|ICAM5_ENST00000221980.4_5'Flank	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)						extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			tacatggtggctgacgcctgt	0.537																																						dbGAP											0													40.0	39.0	39.0					19																	10398857		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.*77C>-	19.37:g.10398857delC			A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Frame_Shift_Del	DEL	pfam_ICAM_N	p.*273fs	ENST00000380770.3	37	c.816	CCDS12232.1	19																																																																																			ICAM4	-	NULL	ENSG00000105371		0.537	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICAM4	HGNC	protein_coding	OTTHUMT00000451214.1	60	0.00	0	C	NM_001544		10398857	10398857	+1	no_errors	ENST00000340992	ensembl	human	known	69_37n	frame_shift_del	33	21.43	9	DEL	0.003	-
IGF2R	3482	genome.wustl.edu	37	6	160509069	160509069	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:160509069C>G	ENST00000356956.1	+	42	6358	c.6210C>G	c.(6208-6210)gaC>gaG	p.D2070E		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2070					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTTCAGGTGACAAAGTTGTTG	0.453											OREG0017769	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													103.0	93.0	96.0					6																	160509069		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6210C>G	6.37:g.160509069C>G	ENSP00000349437:p.Asp2070Glu	1809	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.D2070E	ENST00000356956.1	37	c.6210	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	7.463	0.645091	0.14451	.	.	ENSG00000197081	ENST00000356956	T	0.01963	4.53	4.57	3.68	0.42216	Mannose-6-phosphate receptor, binding (1);	0.116764	0.64402	N	0.000016	T	0.00906	0.0030	M	0.64404	1.975	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.44298	-0.9337	10	0.18710	T	0.47	-40.6616	3.0288	0.06099	0.2406:0.542:0.0:0.2174	.	2070	P11717	MPRI_HUMAN	E	2070	ENSP00000349437:D2070E	ENSP00000349437:D2070E	D	+	3	2	IGF2R	160429059	0.943000	0.32029	0.877000	0.34402	0.090000	0.18270	0.605000	0.24179	1.080000	0.41073	0.655000	0.94253	GAC	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.453	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	133	0.00	0	C	NM_000876		160509069	160509069	+1	no_errors	ENST00000356956	ensembl	human	known	69_37n	missense	33	60.24	50	SNP	0.931	G
IGHM	3507	genome.wustl.edu	37	14	106320677	106320677	+	RNA	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:106320677A>G	ENST00000390559.2	-	0	1132							P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GGCGCTGGTCACATACTTCTC	0.652																																						dbGAP											0													37.0	43.0	41.0					14																	106320677		2089	4193	6282	-	-	-			0			X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106320677A>G			P20769	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_C1-set,pfscan_Ig-like	p.V378A	ENST00000390559.2	37	c.1133		14																																																																																			IGHM	-	pfam_Ig_C1-set,pfam_Immunoglobulin,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000211899		0.652	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHM	HGNC	IG_C_gene	OTTHUMT00000326272.1	76	0.00	0	A	NG_001019		106320677	106320677	-1	no_start_codon	ENST00000390559	ensembl	human	known	69_37n	missense	28	49.12	28	SNP	0.367	G
IGKV1D-8	28904	genome.wustl.edu	37	2	90259989	90259990	+	RNA	DNP	CC	CC	TT			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:90259989_90259990CC>TT	ENST00000471857.1	+	0	273_274									immunoglobulin kappa variable 1D-8																		CAGTCTCCATCCTTACTCTCTG	0.426																																						dbGAP											0																																										-	-	-			0			Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570	Exception_encountered	2.37:g.90259989_90259990delinsTT				Missense_Mutation|Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S31F|p.S31	ENST00000471857.1	37	c.92|c.93		2																																																																																			IGKV1D-8	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000239819		0.426	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1D-8	HGNC	IG_V_gene	OTTHUMT00000323145.2	293|295	0.00|0.34	0|1	C	NG_000833		90259989|90259990	90259989|90259990	+1	no_stop_codon	ENST00000471857	ensembl	human	known	69_37n	missense|silent	216|221	12.90|16.29	32|43	SNP	0.013|0.004	T
IL4R	3566	genome.wustl.edu	37	16	27373644	27373644	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:27373644C>A	ENST00000395762.2	+	11	1230	c.971C>A	c.(970-972)cCt>cAt	p.P324H	IL4R_ENST00000170630.2_Missense_Mutation_p.P324H|IL4R_ENST00000543915.2_Missense_Mutation_p.P324H|IL4R_ENST00000380922.3_Missense_Mutation_p.P309H|IL4R_ENST00000565915.1_3'UTR	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	324					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GATGAAGATCCTCACAAGGCT	0.502																																						dbGAP											0													99.0	104.0	102.0					16																	27373644		2197	4300	6497	-	-	-	SO:0001583	missense	0			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.971C>A	16.37:g.27373644C>A	ENSP00000379111:p.Pro324His		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.P324H	ENST00000395762.2	37	c.971	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681352	0.29872	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09630	2.97;2.97;2.96;2.97	4.5	-1.29	0.09288	.	1.522500	0.04496	N	0.380326	T	0.06826	0.0174	N	0.22421	0.69	0.09310	N	1	P;P;P	0.39060	0.657;0.657;0.657	B;B;B	0.34652	0.187;0.187;0.187	T	0.36939	-0.9727	10	0.15066	T	0.55	-29.8621	8.18	0.31305	0.0:0.5442:0.0:0.4558	.	309;324;324	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	H	324;324;309;324	ENSP00000379111:P324H;ENSP00000441667:P324H;ENSP00000370309:P309H;ENSP00000170630:P324H	ENSP00000170630:P324H	P	+	2	0	IL4R	27281145	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.488000	0.06497	-0.425000	0.07371	-0.140000	0.14226	CCT	IL4R	-	NULL	ENSG00000077238		0.502	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	182	0.00	0	C			27373644	27373644	+1	no_errors	ENST00000170630	ensembl	human	known	69_37n	missense	102	43.17	79	SNP	0.000	A
INPPL1	3636	genome.wustl.edu	37	11	71939469	71939469	+	Silent	SNP	C	C	T	rs1801031		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:71939469C>T	ENST00000298229.2	+	3	528	c.324C>T	c.(322-324)ggC>ggT	p.G108G	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	108	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCAACCAGGGCCTTGTGTGCG	0.667																																						dbGAP											0													56.0	59.0	58.0					11																	71939469		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.324C>T	11.37:g.71939469C>T			B2RTX5|Q13577|Q13578	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.G108	ENST00000298229.2	37	c.324	CCDS8213.1	11																																																																																			INPPL1	-	smart_SH2,pfscan_SH2	ENSG00000165458		0.667	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	73	0.00	0	C	NM_001567		71939469	71939469	+1	no_errors	ENST00000298229	ensembl	human	known	69_37n	silent	69	20.45	18	SNP	0.999	T
INSR	3643	genome.wustl.edu	37	19	7122974	7122974	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:7122974C>T	ENST00000302850.5	-	18	3427	c.3285G>A	c.(3283-3285)aaG>aaA	p.K1095K	INSR_ENST00000341500.5_Silent_p.K1083K	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1095	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in a NIDDM subject). {ECO:0000269|PubMed:2040394}.		activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGGGCTGGCCCTTGGACACCA	0.632																																						dbGAP											0													42.0	36.0	38.0					19																	7122974		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3285G>A	19.37:g.7122974C>T			Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.K1095	ENST00000302850.5	37	c.3285	CCDS12176.1	19																																																																																			INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,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	ENSG00000171105		0.632	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	50	0.00	0	C			7122974	7122974	-1	no_errors	ENST00000302850	ensembl	human	known	69_37n	silent	25	45.65	21	SNP	0.997	T
IQCH	64799	genome.wustl.edu	37	15	67555536	67555536	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr15:67555536C>T	ENST00000335894.4	+	3	317	c.251C>T	c.(250-252)aCt>aTt	p.T84I	IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Missense_Mutation_p.T84I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	84										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGCTTATATACTCCCCAGGCT	0.308																																						dbGAP											0													65.0	62.0	63.0					15																	67555536		2201	4295	6496	-	-	-	SO:0001583	missense	0			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.251C>T	15.37:g.67555536C>T	ENSP00000336861:p.Thr84Ile		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.T84I	ENST00000335894.4	37	c.251	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	C	8.465	0.856169	0.17106	.	.	ENSG00000103599	ENST00000512104;ENST00000335894;ENST00000535744	T	0.45276	0.9	4.93	4.01	0.46588	.	1.279500	0.05174	N	0.499999	T	0.26593	0.0650	N	0.08118	0	0.24868	N	0.992303	B;B	0.28636	0.085;0.218	B;B	0.25405	0.037;0.06	T	0.19128	-1.0315	10	0.35671	T	0.21	-18.6411	9.914	0.41423	0.0:0.9032:0.0:0.0968	.	84;84	Q86VS3;B4E2J4	IQCH_HUMAN;.	I	84	ENSP00000336861:T84I	ENSP00000336861:T84I	T	+	2	0	IQCH	65342590	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.318000	0.19504	1.404000	0.46819	-0.266000	0.10368	ACT	IQCH	-	NULL	ENSG00000103599		0.308	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	145	0.00	0	C	NM_022784		67555536	67555536	+1	no_errors	ENST00000335894	ensembl	human	known	69_37n	missense	31	47.46	28	SNP	0.003	T
IRAK1	3654	genome.wustl.edu	37	X	153284647	153284648	+	Splice_Site	INS	-	-	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:153284647_153284648insG	ENST00000369980.3	-	3	603_604		c.e3+1		IRAK1_ENST00000369974.2_Splice_Site|IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000429936.2_Splice_Site|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000393682.1_Splice_Site|IRAK1_ENST00000393687.2_Splice_Site	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1						activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|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 apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|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)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTCTTACCTGGGGAGAGG	0.668																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.436+1->C	X.37:g.153284647_153284648insG			D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Frame_Shift_Ins	INS	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.P148fs	ENST00000369980.3	37	c.437_436	CCDS14740.1	X																																																																																			IRAK1	-	NULL	ENSG00000184216		0.668	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	70	0.00	0	-		Intron	153284647	153284648	-1	no_errors	ENST00000369980	ensembl	human	known	69_37n	frame_shift_ins	13	31.58	6	INS	0.998:1.000	G
IRAK4	51135	genome.wustl.edu	37	12	44176156	44176156	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:44176156T>G	ENST00000448290.2	+	9	1059	c.988T>G	c.(988-990)Ttt>Gtt	p.F330V	IRAK4_ENST00000440781.2_Missense_Mutation_p.F206V|IRAK4_ENST00000551736.1_Missense_Mutation_p.F330V|IRAK4_ENST00000431837.1_Missense_Mutation_p.F206V	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	330	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AATATCTGACTTTGGCCTTGC	0.398																																						dbGAP											0													68.0	68.0	68.0					12																	44176156		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.988T>G	12.37:g.44176156T>G	ENSP00000390651:p.Phe330Val		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	pirsf_Interleukin-1_rcpt-assoc_kin4,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-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	p.F330V	ENST00000448290.2	37	c.988	CCDS8744.1	12	.	.	.	.	.	.	.	.	.	.	T	27.7	4.853902	0.91355	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94072	0.7336	10	0.87932	D	0	-24.4196	15.8229	0.78673	0.0:0.0:0.0:1.0	.	330	Q9NWZ3	IRAK4_HUMAN	V	206;206;330;330	ENSP00000408734:F206V;ENSP00000390327:F206V;ENSP00000390651:F330V;ENSP00000446490:F330V	ENSP00000390327:F206V	F	+	1	0	IRAK4	42462423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.130000	0.65690	0.477000	0.44152	TTT	IRAK4	-	pirsf_Interleukin-1_rcpt-assoc_kin4,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	ENSG00000198001		0.398	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK4	HGNC	protein_coding	OTTHUMT00000403947.1	183	0.00	0	T			44176156	44176156	+1	no_errors	ENST00000448290	ensembl	human	known	69_37n	missense	128	42.60	95	SNP	1.000	G
ITIH2	3698	genome.wustl.edu	37	10	7769757	7769757	+	Silent	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:7769757G>C	ENST00000358415.4	+	11	1411	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	ITIH2_ENST00000379587.4_Silent_p.L404L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	415	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|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)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCGTCTCGCTGATCATTTTGG	0.453																																						dbGAP											0													136.0	109.0	118.0					10																	7769757		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1245G>C	10.37:g.7769757G>C			Q14659|Q15484|Q5T986	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.L415	ENST00000358415.4	37	c.1245	CCDS31141.1	10																																																																																			ITIH2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000151655		0.453	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	243	0.00	0	G	NM_002216		7769757	7769757	+1	no_errors	ENST00000358415	ensembl	human	known	69_37n	silent	1135	13.20	173	SNP	1.000	C
ITPR3	3710	genome.wustl.edu	37	6	33648127	33648127	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:33648127T>C	ENST00000374316.5	+	33	5306	c.4246T>C	c.(4246-4248)Ttc>Ctc	p.F1416L	ITPR3_ENST00000605930.1_Missense_Mutation_p.F1416L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1416					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)	CTATGTGAACTTCGTGAACCA	0.597																																						dbGAP											0													56.0	51.0	53.0					6																	33648127		2203	4300	6503	-	-	-	SO:0001583	missense	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.4246T>C	6.37:g.33648127T>C	ENSP00000363435:p.Phe1416Leu		Q14649|Q5TAQ2	Missense_Mutation	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.F1416L	ENST00000374316.5	37	c.4246	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631988	0.67015	.	.	ENSG00000096433	ENST00000374316	D	0.95103	-3.61	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.91660	0.7364	M	0.78049	2.395	0.80722	D	1	B	0.20988	0.05	B	0.25291	0.059	D	0.90663	0.4592	10	0.46703	T	0.11	-15.5902	14.4195	0.67173	0.0:0.0:0.0:1.0	.	1416	Q14573	ITPR3_HUMAN	L	1416	ENSP00000363435:F1416L	ENSP00000363435:F1416L	F	+	1	0	ITPR3	33756105	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.995000	0.88328	1.801000	0.52704	0.379000	0.24179	TTC	ITPR3	-	NULL	ENSG00000096433		0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	74	0.00	0	T	NM_002224		33648127	33648127	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	54	40.00	36	SNP	1.000	C
JAK2	3717	genome.wustl.edu	37	9	5022151	5022151	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:5022151T>C	ENST00000381652.3	+	3	658	c.164T>C	c.(163-165)cTg>cCg	p.L55P	JAK2_ENST00000539801.1_Missense_Mutation_p.L55P	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	55	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GCAGATTATCTGACCTTTCCA	0.373		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													dbGAP		Dom	yes		9	9p24	3717	Janus kinase 2		L	0													141.0	138.0	139.0					9																	5022151		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.164T>C	9.37:g.5022151T>C	ENSP00000371067:p.Leu55Pro		O14636|O75297	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L55P	ENST00000381652.3	37	c.164	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579866	0.46006	.	.	ENSG00000096968	ENST00000539801;ENST00000381652	T;T	0.47177	0.85;0.85	5.57	5.57	0.84162	Band 4.1 domain (1);FERM domain (1);	0.000000	0.64402	D	0.000002	T	0.68906	0.3052	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.72077	-0.4399	9	.	.	.	-7.376	15.7191	0.77694	0.0:0.0:0.0:1.0	.	55	O60674	JAK2_HUMAN	P	55	ENSP00000440387:L55P;ENSP00000371067:L55P	.	L	+	2	0	JAK2	5012151	1.000000	0.71417	0.825000	0.32803	0.141000	0.21300	6.071000	0.71229	2.118000	0.64928	0.377000	0.23210	CTG	JAK2	-	smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain	ENSG00000096968		0.373	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	275	0.00	0	T			5022151	5022151	+1	no_errors	ENST00000381652	ensembl	human	known	69_37n	missense	492	43.06	372	SNP	0.650	C
JPH4	84502	genome.wustl.edu	37	14	24040435	24040436	+	Frame_Shift_Ins	INS	-	-	C	rs144738828		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:24040435_24040436insC	ENST00000397118.3	-	6	2406_2407	c.1504_1505insG	c.(1504-1506)gcafs	p.A502fs	JPH4_ENST00000544177.1_Frame_Shift_Ins_p.A167fs|JPH4_ENST00000356300.4_Frame_Shift_Ins_p.A502fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	502					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.A502fs*12(2)|p.A502fs*8(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGTGCGCCTGCCCCCCCCCAC	0.688																																						dbGAP											3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1505dupG	14.37:g.24040444_24040444dupC	ENSP00000380307:p.Ala502fs		D3DS53|Q8ND44|Q96DQ0	Frame_Shift_Ins	INS	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.A502fs	ENST00000397118.3	37	c.1505_1504	CCDS9603.1	14																																																																																			JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.688	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	22	0.00	0	-	NM_032452		24040435	24040436	-1	no_errors	ENST00000356300	ensembl	human	known	69_37n	frame_shift_ins	34	19.05	8	INS	0.051:0.057	C
KRT17	3872	genome.wustl.edu	37	17	39777038	39777038	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:39777038G>T	ENST00000311208.8	-	6	1121	c.1054C>A	c.(1054-1056)Cag>Aag	p.Q352K	JUP_ENST00000540235.1_Missense_Mutation_p.Q511K	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	352	Coil 2.|Rod.			Q -> R (in Ref. 4; AL353997/AC022596). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TGGGCCAGCTGCTCCTCCACG	0.607																																					Pancreas(92;1242 2086 39193 50508)	dbGAP											0													58.0	60.0	59.0					17																	39777038		2203	4300	6503	-	-	-	SO:0001583	missense	0			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1054C>A	17.37:g.39777038G>T	ENSP00000308452:p.Gln352Lys		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin	p.Q511K	ENST00000311208.8	37	c.1531	CCDS11402.1	17	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575948	0.45902	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.88509	-2.39;-2.39	4.02	4.02	0.46733	Filament (1);	0.000000	0.44688	D	0.000424	D	0.92140	0.7508	H	0.95850	3.73	0.24966	N	0.991697	B	0.17852	0.024	B	0.23150	0.044	D	0.87013	0.2124	10	0.87932	D	0	.	12.3517	0.55153	0.0:0.309:0.691:0.0	.	352	Q04695	K1C17_HUMAN	K	352;511	ENSP00000308452:Q352K;ENSP00000441751:Q511K	ENSP00000441751:Q511K	Q	-	1	0	JUP;KRT17	37030564	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	2.146000	0.42216	2.246000	0.74042	0.561000	0.74099	CAG	JUP	-	pfam_F,prints_Keratin_I	ENSG00000173801		0.607	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257460.1	84	0.00	0	G	NM_000422		39777038	39777038	-1	no_errors	ENST00000540235	ensembl	human	known	69_37n	missense	76	24.75	25	SNP	1.000	T
KRT17	3872	genome.wustl.edu	37	17	39779221	39779221	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:39779221C>A	ENST00000311208.8	-	2	563	c.496G>T	c.(496-498)Gct>Tct	p.A166S	JUP_ENST00000540235.1_Missense_Mutation_p.A325S	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	166	Coil 1B.|Peptide epitope S2; induces T-cell proliferation and IFN-gamma production.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AAGTCATCAGCAGCCAGACGG	0.587																																					Pancreas(92;1242 2086 39193 50508)	dbGAP											0													124.0	105.0	111.0					17																	39779221		2203	4300	6503	-	-	-	SO:0001583	missense	0			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.496G>T	17.37:g.39779221C>A	ENSP00000308452:p.Ala166Ser		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin	p.A325S	ENST00000311208.8	37	c.973	CCDS11402.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646638	0.87958	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.89552	-2.53;-2.53	4.33	3.34	0.38264	Filament (1);	0.000000	0.46758	D	0.000266	D	0.93743	0.8000	M	0.88842	2.985	0.34707	D	0.727399	D	0.55605	0.972	P	0.58780	0.845	D	0.96590	0.9437	10	0.51188	T	0.08	.	13.8521	0.63504	0.1539:0.8461:0.0:0.0	.	166	Q04695	K1C17_HUMAN	S	166;325	ENSP00000308452:A166S;ENSP00000441751:A325S	ENSP00000441751:A325S	A	-	1	0	JUP;KRT17	37032747	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	5.279000	0.65597	1.158000	0.42547	0.561000	0.74099	GCT	JUP	-	pfam_F,prints_Keratin_I	ENSG00000173801		0.587	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257460.1	264	0.00	0	C	NM_000422		39779221	39779221	-1	no_errors	ENST00000540235	ensembl	human	known	69_37n	missense	128	24.26	41	SNP	1.000	A
KCNB1	3745	genome.wustl.edu	37	20	47991007	47991008	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr20:47991007_47991008insG	ENST00000371741.4	-	2	1255_1256	c.1089_1090insC	c.(1087-1092)agcatcfs	p.I364fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	364					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)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GAGGCTGGGATGCTTTTGAACT	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1090dupC	20.37:g.47991008_47991008dupG	ENSP00000360806:p.Ile364fs		Q14193	Frame_Shift_Ins	INS	pfam_K_chnl_volt-dep_Kv2,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_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.I363fs	ENST00000371741.4	37	c.1090_1089	CCDS13418.1	20																																																																																			KCNB1	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl	ENSG00000158445		0.510	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	53	0.00	0	-	NM_004975		47991007	47991008	-1	no_errors	ENST00000371741	ensembl	human	known	69_37n	frame_shift_ins	40	20.00	10	INS	1.000:1.000	G
KCNJ11	3767	genome.wustl.edu	37	11	17408699	17408699	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:17408699G>T	ENST00000339994.4	-	1	1507	c.940C>A	c.(940-942)Cgc>Agc	p.R314S	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.R227S	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	314					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GGCACAAAGCGCTGGCCCCAC	0.607											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													138.0	122.0	127.0					11																	17408699		2200	4293	6493	-	-	-	SO:0001583	missense	0			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.940C>A	11.37:g.17408699G>T	ENSP00000345708:p.Arg314Ser	717	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir6.2	p.R314S	ENST00000339994.4	37	c.940	CCDS31436.1	11	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654050	0.67472	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.95307	-3.67;-3.67	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.97971	0.9332	H	0.94345	3.525	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.87932	D	0	.	15.0016	0.71476	0.0:0.0:0.8487:0.1513	.	314	B2RC52	.	S	314;227	ENSP00000345708:R314S;ENSP00000434755:R227S	ENSP00000345708:R314S	R	-	1	0	KCNJ11	17365275	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.370000	0.59517	2.548000	0.85928	0.561000	0.74099	CGC	KCNJ11	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	ENSG00000187486		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ11	HGNC	protein_coding	OTTHUMT00000387037.1	138	0.00	0	G	NM_000525		17408699	17408699	-1	no_errors	ENST00000339994	ensembl	human	known	69_37n	missense	63	11.27	8	SNP	1.000	T
KIAA0754	643314	genome.wustl.edu	37	1	39878587	39878587	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:39878587C>G	ENST00000530275.1	+	1	2437	c.2242C>G	c.(2242-2244)Cta>Gta	p.L748V	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	748										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)			TGAGGACATCCTAGTTGCTTC	0.547																																						dbGAP											0													49.0	51.0	50.0					1																	39878587		2008	4184	6192	-	-	-	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.2242C>G	1.37:g.39878587C>G	ENSP00000431179:p.Leu748Val		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.L748V	ENST00000530275.1	37	c.2242		1	.	.	.	.	.	.	.	.	.	.	C	5.089	0.202112	0.09652	.	.	ENSG00000255103	ENST00000530275	T	0.25085	1.82	4.26	2.36	0.29203	.	.	.	.	.	T	0.13628	0.0330	N	0.14661	0.345	0.09310	N	1	B	0.31290	0.318	B	0.29716	0.106	T	0.21793	-1.0235	9	0.27082	T	0.32	.	8.0631	0.30644	0.0:0.7914:0.0:0.2086	.	748	O94854	K0754_HUMAN	V	748	ENSP00000431179:L748V	ENSP00000431179:L748V	L	+	1	2	RP4-562N20.1	39651174	0.002000	0.14202	0.010000	0.14722	0.185000	0.23345	1.518000	0.35877	1.147000	0.42369	0.561000	0.74099	CTA	KIAA0754	-	NULL	ENSG00000255103		0.547	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	112	0.00	0	C	NM_015038		39878587	39878587	+1	no_errors	ENST00000530275	ensembl	human	known	69_37n	missense	80	45.58	67	SNP	0.002	G
KIAA0825	285600	genome.wustl.edu	37	5	93798258	93798260	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:93798258_93798260delTTG	ENST00000513200.3	-	11	2150_2152	c.2078_2080delCAA	c.(2077-2082)acaatt>att	p.T693del	KIAA0825_ENST00000312498.7_In_Frame_Del_p.T693del|KIAA0825_ENST00000427991.2_In_Frame_Del_p.T693del	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	693										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						CATATCAAAATTGTTGTGACATC	0.31																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.2078_2080delCAA	5.37:g.93798261_93798263delTTG	ENSP00000424618:p.Thr693del		O94914|Q6ZNN2	In_Frame_Del	DEL	NULL	p.T693in_frame_del	ENST00000513200.3	37	c.2080_2078		5																																																																																			KIAA0825	-	NULL	ENSG00000185261		0.310	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000254102.5	136	0.00	0	TTG	NM_173665		93798258	93798260	-1	no_errors	ENST00000427991	ensembl	human	known	69_37n	in_frame_del	21	62.30	38	DEL	1.000:0.999:1.000	-
ZSWIM8	23053	genome.wustl.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:75560463_75560464insC	ENST00000605216.1	+	24	5294_5295	c.5077_5078insC	c.(5077-5079)tccfs	p.S1693fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.S1652fs|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.S1690fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.S1511fs|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.S1698fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										CTTCTCCCGCTCCCCCCCCTAC	0.604																																						dbGAP											0									,,	27,3721		0,27,1847					,,	4.9	1.0			133	23,7871		0,23,3924	no	frameshift,frameshift,frameshift	KIAA0913	NM_015037.3,NM_001242488.1,NM_001242487.1	,,	0,50,5771	A1A1,A1R,RR		0.2914,0.7204,0.4295	,,	,,		50,11592				-	-	-	SO:0001589	frameshift_variant	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5085dupC	10.37:g.75560471_75560471dupC	ENSP00000474748:p.Ser1693fs		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	pfscan_Znf_SWIM	p.Y1701fs	ENST00000605216.1	37	c.5092_5093		10																																																																																			KIAA0913	-	NULL	ENSG00000214655		0.604	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	HGNC	protein_coding	OTTHUMT00000468545.1	254	0.00	0	-	NM_001242487		75560463	75560464	+1	no_errors	ENST00000398706	ensembl	human	known	69_37n	frame_shift_ins	137	11.04	17	INS	1.000:1.000	C
ICE1	23379	genome.wustl.edu	37	5	5469096	5469096	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:5469096G>A	ENST00000296564.7	+	15	6439	c.6217G>A	c.(6217-6219)Gaa>Aaa	p.E2073K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2073					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)			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						TCTTAATTGGGAAAAGGTGAG	0.313																																						dbGAP											0													139.0	133.0	135.0					5																	5469096		1827	4072	5899	-	-	-	SO:0001583	missense	0																														ENST00000296564.7:c.6217G>A	5.37:g.5469096G>A	ENSP00000296564:p.Glu2073Lys		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E2073K	ENST00000296564.7	37	c.6217	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.446819	0.96205	.	.	ENSG00000164151	ENST00000296564	T	0.14022	2.54	5.86	5.86	0.93980	.	.	.	.	.	T	0.31451	0.0797	L	0.59436	1.845	0.58432	D	0.999999	D	0.55385	0.971	P	0.58210	0.835	T	0.00356	-1.1793	9	0.87932	D	0	-13.1887	17.6924	0.88272	0.0:0.0:1.0:0.0	.	2073	Q9Y2F5	K0947_HUMAN	K	2073	ENSP00000296564:E2073K	ENSP00000296564:E2073K	E	+	1	0	KIAA0947	5522096	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.614000	0.74197	2.781000	0.95711	0.650000	0.86243	GAA	KIAA0947	-	NULL	ENSG00000164151		0.313	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	250	0.00	0	G			5469096	5469096	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	missense	149	10.24	17	SNP	1.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118222228	118222228	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:118222228G>A	ENST00000402510.2	-	11	2964	c.2965C>T	c.(2965-2967)Ccc>Tcc	p.P989S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	989										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						TTCATCAAGGGCTGGCAAAGA	0.448																																						dbGAP											0													67.0	62.0	63.0					X																	118222228		1928	4115	6043	-	-	-	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.2965C>T	X.37:g.118222228G>A	ENSP00000384670:p.Pro989Ser		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.P989S	ENST00000402510.2	37	c.2965	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.680|2.680	-0.275544|-0.275544	0.05679|0.05679	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.11604	.|2.76	4.72|4.72	-0.241|-0.241	0.13043|0.13043	.|.	.|.	.|.	.|.	.|.	T|T	0.04952|0.04952	0.0133|0.0133	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.28713	.|0.22	.|B	.|0.25614	.|0.062	T|T	0.42344|0.42344	-0.9457|-0.9457	5|9	.|0.33141	.|T	.|0.24	.|.	7.8045|7.8045	0.29193|0.29193	0.5212:0.0:0.4788:0.0|0.5212:0.0:0.4788:0.0	.|.	.|989	.|Q9ULL0	.|K1210_HUMAN	V|S	395|989	.|ENSP00000384670:P989S	.|ENSP00000384670:P989S	A|P	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118106256|118106256	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.851000|-0.851000	0.04313|0.04313	-0.206000|-0.206000	0.10203|0.10203	-0.191000|-0.191000	0.12829|0.12829	GCC|CCC	KIAA1210	-	NULL	ENSG00000250423		0.448	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	151	0.00	0	G	NM_020721		118222228	118222228	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	126	22.56	37	SNP	0.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118222231	118222231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:118222231G>A	ENST00000402510.2	-	11	2961	c.2962C>T	c.(2962-2964)Cag>Tag	p.Q988*		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	988										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						ATCAAGGGCTGGCAAAGAAGT	0.453																																						dbGAP											0													66.0	61.0	63.0					X																	118222231		1926	4112	6038	-	-	-	SO:0001587	stop_gained	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.2962C>T	X.37:g.118222231G>A	ENSP00000384670:p.Gln988*		B7ZCI8|Q5JPN4	Nonsense_Mutation	SNP	NULL	p.Q988*	ENST00000402510.2	37	c.2962	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.4|28.4	4.917685|4.917685	0.92249|0.92249	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|.	.|.	.|.	4.47|4.47	-3.8|-3.8	0.04307|0.04307	.|.	.|.	.|.	.|.	.|.	T|.	0.10680|.	0.0261|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34477|.	-0.9827|.	3|.	.|0.02654	.|T	.|1	.|.	4.9115|4.9115	0.13823|0.13823	0.0852:0.1198:0.1828:0.6122|0.0852:0.1198:0.1828:0.6122	.|.	.|.	.|.	.|.	L|X	394|988	.|.	.|ENSP00000384670:Q988X	P|Q	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118106259|118106259	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.049000|0.049000	0.14099|0.14099	-1.086000|-1.086000	0.03084|0.03084	-0.191000|-0.191000	0.12829|0.12829	CCA|CAG	KIAA1210	-	NULL	ENSG00000250423		0.453	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	154	0.00	0	G	NM_020721		118222231	118222231	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	nonsense	130	25.29	44	SNP	0.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118222237	118222237	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:118222237G>A	ENST00000402510.2	-	11	2955	c.2956C>T	c.(2956-2958)Ctt>Ttt	p.L986F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	986										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						GGCTGGCAAAGAAGTTTAGGA	0.463																																						dbGAP											0													67.0	61.0	63.0					X																	118222237		1926	4117	6043	-	-	-	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.2956C>T	X.37:g.118222237G>A	ENSP00000384670:p.Leu986Phe		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.L986F	ENST00000402510.2	37	c.2956	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.303|1.303	-0.604365|-0.604365	0.03717|0.03717	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.10477|.	2.87|.	4.72|4.72	-3.98|-3.98	0.04082|0.04082	.|.	.|.	.|.	.|.	.|.	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.17667|.	0.023|.	B|.	0.18561|.	0.022|.	T|T	0.22556|0.22556	-1.0213|-1.0213	8|5	.|.	.|.	.|.	.|.	1.0878|1.0878	0.01656|0.01656	0.3817:0.2468:0.2343:0.1372|0.3817:0.2468:0.2343:0.1372	.|.	986|.	Q9ULL0|.	K1210_HUMAN|.	F|F	986|392	ENSP00000384670:L986F|.	.|.	L|S	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118106265|118106265	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.877000|-0.877000	0.04197|0.04197	-1.089000|-1.089000	0.03073|0.03073	0.600000|0.600000	0.82982|0.82982	CTT|TCT	KIAA1210	-	NULL	ENSG00000250423		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	166	0.00	0	G	NM_020721		118222237	118222237	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	130	27.78	50	SNP	0.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118222419	118222421	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:118222419_118222421delTGC	ENST00000402510.2	-	11	2771_2773	c.2772_2774delGCA	c.(2770-2775)cagcaa>caa	p.924_925QQ>Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	924										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						GGGGACTTGTTGCTGAACAGTAG	0.483																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	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.2772_2774delGCA	X.37:g.118222419_118222421delTGC	ENSP00000384670:p.Gln926del		B7ZCI8|Q5JPN4	In_Frame_Del	DEL	NULL	p.Q926in_frame_del	ENST00000402510.2	37	c.2774_2772	CCDS48156.1	X																																																																																			KIAA1210	-	NULL	ENSG00000250423		0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	204	0.00	0	TGC	NM_020721		118222419	118222421	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	in_frame_del	194	11.01	24	DEL	0.002:0.003:0.001	-
NWD2	57495	genome.wustl.edu	37	4	37445634	37445634	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:37445634T>G	ENST00000309447.5	+	7	2872	c.2024T>G	c.(2023-2025)aTg>aGg	p.M675R		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		675	NACHT.									breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						CTGAGTGAAATGGAACTGGAG	0.458																																						dbGAP											0													71.0	64.0	66.0					4																	37445634		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000309447.5:c.2024T>G	4.37:g.37445634T>G	ENSP00000309501:p.Met675Arg		A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.M675R	ENST00000309447.5	37	c.2024	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	T	13.32	2.202955	0.38905	.	.	ENSG00000174145	ENST00000309447	T	0.79653	-1.29	6.05	6.05	0.98169	.	0.048234	0.85682	D	0.000000	T	0.70290	0.3207	L	0.36672	1.1	0.53688	D	0.999971	P	0.35363	0.497	B	0.28553	0.091	T	0.68550	-0.5379	10	0.14656	T	0.56	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	675	Q9ULI1	K1239_HUMAN	R	675	ENSP00000309501:M675R	ENSP00000309501:M675R	M	+	2	0	KIAA1239	37122029	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.698000	0.84413	2.320000	0.78422	0.528000	0.53228	ATG	KIAA1239	-	NULL	ENSG00000174145		0.458	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	119	0.00	0	T			37445634	37445634	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	missense	64	38.46	40	SNP	1.000	G
KIAA1731	85459	genome.wustl.edu	37	11	93432885	93432885	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:93432885A>T	ENST00000325212.6	+	15	4969	c.4807A>T	c.(4807-4809)Atg>Ttg	p.M1603L	KIAA1731_ENST00000344196.4_De_novo_Start_InFrame|KIAA1731_ENST00000531700.1_Intron|KIAA1731_ENST00000411936.1_Missense_Mutation_p.M1603L			Q9C0D2	K1731_HUMAN	KIAA1731	1603						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)				GCAAGATAATATGACAGCACA	0.368																																						dbGAP											0													38.0	31.0	33.0					11																	93432885		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.4807A>T	11.37:g.93432885A>T	ENSP00000316681:p.Met1603Leu		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.M1603L	ENST00000325212.6	37	c.4807	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.383070	0.00205	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	T;T	0.16457	2.34;2.34	4.73	-1.91	0.07641	.	1.989550	0.02585	N	0.099309	T	0.04770	0.0129	N	0.00778	-1.195	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.33574	-0.9863	10	0.07813	T	0.8	4.482	6.3554	0.21398	0.256:0.0:0.4835:0.2605	.	1603	Q9C0D2	K1731_HUMAN	L	1603	ENSP00000316681:M1603L;ENSP00000406505:M1603L	ENSP00000316681:M1603L	M	+	1	0	KIAA1731	93072533	0.000000	0.05858	0.002000	0.10522	0.120000	0.20174	-0.713000	0.05007	-0.551000	0.06175	-0.563000	0.04171	ATG	KIAA1731	-	NULL	ENSG00000166004		0.368	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	73	0.00	0	A	NM_033395		93432885	93432885	+1	no_errors	ENST00000411936	ensembl	human	known	69_37n	missense	105	15.32	19	SNP	0.002	T
KIAA2013	90231	genome.wustl.edu	37	1	11982630	11982630	+	Intron	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:11982630C>T	ENST00000376572.3	-	2	2073				KIAA2013_ENST00000376576.3_Silent_p.R650R	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013							integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGCCCCTTCCGAGACACAG	0.627																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1887+62G>A	1.37:g.11982630C>T			Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	pfam_DUF2152	p.R650	ENST00000376572.3	37	c.1950	CCDS141.1	1																																																																																			KIAA2013	-	NULL	ENSG00000116685		0.627	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1	72	0.00	0	C	NM_138346		11982630	11982630	-1	no_errors	ENST00000376576	ensembl	human	known	69_37n	silent	11	77.08	37	SNP	0.006	T
KIDINS220	57498	genome.wustl.edu	37	2	8871974	8871975	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:8871974_8871975insA	ENST00000256707.3	-	30	4372_4373	c.4191_4192insT	c.(4189-4194)ttagaafs	p.E1398fs	KIDINS220_ENST00000418530.1_Frame_Shift_Ins_p.E1299fs|KIDINS220_ENST00000473731.1_Frame_Shift_Ins_p.E1379fs|KIDINS220_ENST00000427284.1_Frame_Shift_Ins_p.E1379fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1398					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGGCCCCCTTCTAACTGGGACA	0.45																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4191_4192insT	2.37:g.8871974_8871975insA	ENSP00000256707:p.Glu1398fs		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Frame_Shift_Ins	INS	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1397fs	ENST00000256707.3	37	c.4192_4191	CCDS42650.1	2																																																																																			KIDINS220	-	NULL	ENSG00000134313		0.450	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	170	0.00	0	-	NM_020738		8871974	8871975	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	frame_shift_ins	84	20.00	21	INS	1.000:1.000	A
KIDINS220	57498	genome.wustl.edu	37	2	8871980	8871980	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:8871980delG	ENST00000256707.3	-	30	4367	c.4186delC	c.(4186-4188)cagfs	p.Q1396fs	KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.Q1297fs|KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.Q1377fs|KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.Q1377fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1396					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTTCTAACTGGGACATCTGA	0.453																																						dbGAP											0													112.0	111.0	111.0					2																	8871980		1844	4100	5944	-	-	-	SO:0001589	frameshift_variant	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4186delC	2.37:g.8871980delG	ENSP00000256707:p.Gln1396fs		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Frame_Shift_Del	DEL	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q1396fs	ENST00000256707.3	37	c.4186	CCDS42650.1	2																																																																																			KIDINS220	-	NULL	ENSG00000134313		0.453	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	171	0.00	0	G	NM_020738		8871980	8871980	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	frame_shift_del	69	23.08	21	DEL	1.000	-
KLK15	55554	genome.wustl.edu	37	19	51330210	51330210	+	Silent	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:51330210C>A	ENST00000598239.1	-	3	435	c.405G>T	c.(403-405)ggG>ggT	p.G135G	KLK15_ENST00000596931.1_Silent_p.G134G|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000326856.4_Silent_p.G134G|KLK15_ENST00000301421.2_Silent_p.G135G	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	135	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CACAGGCCTCCCCCGGGTGGG	0.692																																					Pancreas(140;10 2513 7143 9246)	dbGAP											0													26.0	29.0	28.0					19																	51330210		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.405G>T	19.37:g.51330210C>A			A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G135	ENST00000598239.1	37	c.405	CCDS12805.1	19																																																																																			KLK15	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000174562		0.692	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK15	HGNC	protein_coding	OTTHUMT00000465160.1	26	0.00	0	C	NM_017509		51330210	51330210	-1	no_errors	ENST00000326856	ensembl	human	known	69_37n	silent	29	50.00	29	SNP	0.003	A
KLK15	55554	genome.wustl.edu	37	19	51330212	51330212	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:51330212C>T	ENST00000598239.1	-	3	433	c.403G>A	c.(403-405)Ggg>Agg	p.G135R	KLK15_ENST00000596931.1_Missense_Mutation_p.G134R|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000326856.4_Missense_Mutation_p.G134R|KLK15_ENST00000301421.2_Missense_Mutation_p.G135R	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	135	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGGCCTCCCCCGGGTGGGGG	0.697																																					Pancreas(140;10 2513 7143 9246)	dbGAP											0													26.0	29.0	28.0					19																	51330212		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.403G>A	19.37:g.51330212C>T	ENSP00000469315:p.Gly135Arg		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G135R	ENST00000598239.1	37	c.403	CCDS12805.1	19	.	.	.	.	.	.	.	.	.	.	c	18.23	3.577625	0.65878	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.90900	-2.75	4.39	3.35	0.38373	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.297155	0.24109	N	0.041478	D	0.94387	0.8195	M	0.84773	2.715	0.36323	D	0.858382	D;P;D	0.89917	0.999;0.92;1.0	D;P;D	0.85130	0.985;0.844;0.997	D	0.94701	0.7883	10	0.87932	D	0	.	6.4454	0.21873	0.0:0.7159:0.1838:0.1003	.	135;134;135	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	R	135	ENSP00000301421:G135R	ENSP00000301421:G135R	G	-	1	0	KLK15	56022024	0.994000	0.37717	0.010000	0.14722	0.035000	0.12851	4.378000	0.59568	1.213000	0.43380	-0.300000	0.09419	GGG	KLK15	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000174562		0.697	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK15	HGNC	protein_coding	OTTHUMT00000465160.1	26	0.00	0	C	NM_017509		51330212	51330212	-1	no_errors	ENST00000326856	ensembl	human	known	69_37n	missense	30	48.28	28	SNP	0.750	T
KRTAP4-1	85285	genome.wustl.edu	37	17	39340725	39340725	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:39340725G>C	ENST00000398472.1	-	1	869	c.382C>G	c.(382-384)Cag>Gag	p.Q128E				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	128	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGGTGGTCTGACAGCAGAGT	0.602																																						dbGAP											0													87.0	95.0	92.0					17																	39340725		2170	4273	6443	-	-	-	SO:0001583	missense	0			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.382C>G	17.37:g.39340725G>C	ENSP00000381489:p.Gln128Glu		A8MWS7|Q3SYF2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.Q128E	ENST00000398472.1	37	c.382		17	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.273430	0.01421	.	.	ENSG00000244537;ENSG00000198443;ENSG00000198443	ENST00000458321;ENST00000398472;ENST00000334190	T	0.01422	4.91	5.28	3.24	0.37175	.	.	.	.	.	T	0.01092	0.0036	.	.	.	0.24255	N	0.995302	P	0.42785	0.79	B	0.41299	0.353	T	0.41752	-0.9491	8	0.07325	T	0.83	.	10.2051	0.43107	0.0:0.1483:0.6976:0.154	.	128	Q9BYQ7	KRA41_HUMAN	E	124;128;109	ENSP00000381489:Q128E	ENSP00000335483:Q109E	Q	-	1	0	KRTAP4-2;KRTAP4-1	36594251	0.872000	0.30054	0.536000	0.28039	0.144000	0.21451	1.878000	0.39608	0.558000	0.29135	0.563000	0.77884	CAG	KRTAP4-1	-	NULL	ENSG00000198443		0.602	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	KRTAP4-1	HGNC	protein_coding	OTTHUMT00000255108.1	70	0.00	0	G	NM_033060		39340725	39340725	-1	no_errors	ENST00000398472	ensembl	human	known	69_37n	missense	51	22.73	15	SNP	0.910	C
LAMTOR2	28956	genome.wustl.edu	37	1	156025001	156025001	+	Intron	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:156025001A>T	ENST00000368305.4	+	2	206				LAMTOR2_ENST00000368304.5_Intron|UBQLN4_ENST00000472638.1_5'Flank|LAMTOR2_ENST00000368302.3_Intron|UBQLN4_ENST00000368309.3_5'Flank|LAMTOR2_ENST00000489664.1_Intron	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2						activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						GGAAACCCAGACGTTTTACTC	0.612																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"""mitogen activated protein binding protein interacting protein"", ""MAPKSP1 adaptor protein"", ""endosomal adaptor protein"""	610389	"""roadblock domain containing 3"""	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.69-53A>T	1.37:g.156025001A>T			Q5VY97|Q5VY98|Q5VY99	RNA	SNP	-	NULL	ENST00000368305.4	37	NULL	CCDS1128.1	1																																																																																			LAMTOR2	-	-	ENSG00000116586		0.612	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR2	HGNC	protein_coding	OTTHUMT00000046197.1	31	0.00	0	A	NM_014017		156025001	156025001	+1	no_errors	ENST00000487106	ensembl	human	known	69_37n	rna	13	89.31	117	SNP	0.000	T
LATS1	9113	genome.wustl.edu	37	6	149983176	149983176	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:149983176G>C	ENST00000543571.1	-	8	3629	c.3082C>G	c.(3082-3084)Cct>Gct	p.P1028A	LATS1_ENST00000253339.5_Missense_Mutation_p.P1028A	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.P1028T(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GTGATTTTAGGAATGTATGAA	0.368																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											108.0	108.0	108.0					6																	149983176		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3082C>G	6.37:g.149983176G>C	ENSP00000437550:p.Pro1028Ala			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.P1028A	ENST00000543571.1	37	c.3082	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515394	0.64634	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.08720	3.06;3.06	5.6	4.73	0.59995	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.122314	0.37261	N	0.002171	T	0.27313	0.0670	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33033	-0.9884	9	.	.	.	.	14.4715	0.67519	0.0709:0.0:0.9291:0.0	.	1028	O95835	LATS1_HUMAN	A	1028	ENSP00000437550:P1028A;ENSP00000253339:P1028A	.	P	-	1	0	LATS1	150024869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	1.378000	0.46305	0.591000	0.81541	CCT	LATS1	-	superfamily_Kinase-like_dom	ENSG00000131023		0.368	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	166	0.00	0	G	NM_004690		149983176	149983176	-1	no_errors	ENST00000253339	ensembl	human	known	69_37n	missense	107	32.70	52	SNP	1.000	C
LCE1C	353133	genome.wustl.edu	37	1	152777833	152777833	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:152777833G>A	ENST00000607093.1	-	1	121	c.122C>T	c.(121-123)tCt>tTt	p.S41F	LCE1C_ENST00000368768.1_Missense_Mutation_p.S41F			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	41					keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCAGGAAGAGACAGGAGG	0.662																																						dbGAP											0													52.0	54.0	53.0					1																	152777833		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.122C>T	1.37:g.152777833G>A	ENSP00000475270:p.Ser41Phe			Missense_Mutation	SNP	NULL	p.S41F	ENST00000607093.1	37	c.122	CCDS1026.1	1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261722	0.23051	.	.	ENSG00000197084	ENST00000368768	T	0.05855	3.38	3.38	3.38	0.38709	.	0.819183	0.09987	N	0.730194	T	0.10809	0.0264	L	0.54323	1.7	0.29919	N	0.822864	D	0.69078	0.997	D	0.78314	0.991	T	0.06643	-1.0815	10	0.87932	D	0	.	10.4212	0.44352	0.0:0.0:1.0:0.0	.	41	Q5T751	LCE1C_HUMAN	F	41	ENSP00000357757:S41F	ENSP00000357757:S41F	S	-	2	0	LCE1C	151044457	0.106000	0.21978	1.000000	0.80357	0.922000	0.55478	2.399000	0.44495	1.883000	0.54544	0.655000	0.94253	TCT	LCE1C	-	NULL	ENSG00000197084		0.662	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1C	HGNC	protein_coding	OTTHUMT00000034658.2	219	0.00	0	G	NM_178351		152777833	152777833	-1	no_errors	ENST00000368768	ensembl	human	known	69_37n	missense	347	31.76	162	SNP	1.000	A
LBR	3930	genome.wustl.edu	37	1	225599115	225599115	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:225599115C>T	ENST00000338179.2	-	9	1237	c.1112G>A	c.(1111-1113)gGc>gAc	p.G371D	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Missense_Mutation_p.G371D	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	371					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TAATTCACGGCCAATGAAGAA	0.428																																						dbGAP											0													100.0	107.0	105.0					1																	225599115		2203	4300	6503	-	-	-	SO:0001583	missense	0			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1112G>A	1.37:g.225599115C>T	ENSP00000339883:p.Gly371Asp		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor	p.G371D	ENST00000338179.2	37	c.1112	CCDS1545.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.548433	0.96488	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000424022	D;D;D	0.99519	-6.07;-6.07;-6.07	6.16	6.16	0.99307	Sterol reductase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97149	0.9830	10	0.87932	D	0	-22.0551	20.8598	0.99761	0.0:1.0:0.0:0.0	.	371	Q14739	LBR_HUMAN	D	371;371;2	ENSP00000272163:G371D;ENSP00000339883:G371D;ENSP00000397817:G2D	ENSP00000272163:G371D	G	-	2	0	LBR	223665738	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.746000	0.85057	2.937000	0.99478	0.650000	0.86243	GGC	LBR	-	pfam_Ergosterol_biosynth_ERG4_ERG24	ENSG00000143815		0.428	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	255	0.00	0	C	NM_002296		225599115	225599115	-1	no_errors	ENST00000272163	ensembl	human	known	69_37n	missense	701	12.67	102	SNP	1.000	T
LEMD3	23592	genome.wustl.edu	37	12	65563384	65563385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:65563384_65563385insT	ENST00000308330.2	+	1	34_35	c.8_9insT	c.(7-12)gcggcafs	p.A4fs	LEMD3_ENST00000541171.1_3'UTR	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	4					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AAAATGGCGGCGGCAGCAGCTT	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	Exception_encountered	12.37:g.65563384_65563385insT	ENSP00000308369:p.Ala4fs		Q9NT47|Q9NYA5	Frame_Shift_Ins	INS	pfam_Inner-Nucl-membr_MAN1,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM	p.A4fs	ENST00000308330.2	37	c.8_9	CCDS8972.1	12																																																																																			LEMD3	-	NULL	ENSG00000174106		0.653	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD3	HGNC	protein_coding	OTTHUMT00000401312.2	12	0.00	0	-			65563384	65563385	+1	no_errors	ENST00000308330	ensembl	human	known	69_37n	frame_shift_ins	5	44.44	4	INS	1.000:0.999	T
LIG4	3981	genome.wustl.edu	37	13	108862659	108862659	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr13:108862659T>A	ENST00000356922.4	-	2	1230	c.958A>T	c.(958-960)Aaa>Taa	p.K320*	LIG4_ENST00000405925.1_Nonsense_Mutation_p.K320*|LIG4_ENST00000442234.1_Nonsense_Mutation_p.K320*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	320					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATATCTGCTTTGAATGCATTA	0.338								Non-homologous end-joining																														dbGAP											0													92.0	92.0	92.0					13																	108862659		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.958A>T	13.37:g.108862659T>A	ENSP00000349393:p.Lys320*		Q8IY66|Q8TEU5	Nonsense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.K320*	ENST00000356922.4	37	c.958	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968405	0.74131	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	.	.	.	5.53	-4.76	0.03229	.	0.685311	0.15570	N	0.255472	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3821	0.49763	0.0:0.0639:0.5609:0.3752	.	.	.	.	X	320	.	ENSP00000349393:K320X	K	-	1	0	LIG4	107660660	0.016000	0.18221	0.013000	0.15412	0.489000	0.33432	0.109000	0.15417	-0.585000	0.05905	-0.307000	0.09154	AAA	LIG4	-	pfam_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	ENSG00000174405		0.338	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	171	0.00	0	T	NM_002312		108862659	108862659	-1	no_errors	ENST00000356922	ensembl	human	known	69_37n	nonsense	105	14.63	18	SNP	0.021	A
LOXL3	84695	genome.wustl.edu	37	2	74763923	74763924	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:74763923_74763924insC	ENST00000264094.3	-	5	895_896	c.824_825insG	c.(823-825)ggcfs	p.G275fs	LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.G275fs|LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.G275fs	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	275	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCACTGCAGGGCCCCCCCCAGG	0.649																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.825dupG	2.37:g.74763931_74763931dupC	ENSP00000264094:p.Gly275fs		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Frame_Shift_Ins	INS	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.A277fs	ENST00000264094.3	37	c.825_824	CCDS1953.1	2																																																																																			LOXL3	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000115318		0.649	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	78	0.00	0	-	NM_032603		74763923	74763924	-1	no_errors	ENST00000264094	ensembl	human	known	69_37n	frame_shift_ins	93	13.08	14	INS	0.118:0.001	C
LRP1	4035	genome.wustl.edu	37	12	57603939	57603940	+	Frame_Shift_Ins	INS	-	-	C	rs374957759|rs368578321		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:57603939_57603940insC	ENST00000243077.3	+	81	13033_13034	c.12567_12568insC	c.(12568-12570)cccfs	p.P4190fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4190					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTCCAACGCCCCCCCCAGA	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12575dupC	12.37:g.57603947_57603947dupC	ENSP00000243077:p.Pro4190fs		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D4192fs	ENST00000243077.3	37	c.12567_12568	CCDS8932.1	12																																																																																			LRP1	-	superfamily_Growth_fac_rcpt	ENSG00000123384		0.639	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	59	0.00	0	-	NM_002332		57603939	57603940	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	frame_shift_ins	55	12.70	8	INS	0.037:0.113	C
LRP6	4040	genome.wustl.edu	37	12	12334290	12334290	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:12334290G>A	ENST00000261349.4	-	6	1136	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	LRP6_ENST00000543091.1_Silent_p.L354L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	354	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCTAACTGCAGAACAATGTCT	0.443																																						dbGAP											0													145.0	130.0	135.0					12																	12334290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1060C>T	12.37:g.12334290G>A			Q17RZ2	Silent	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.L354	ENST00000261349.4	37	c.1060	CCDS8647.1	12																																																																																			LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt	ENSG00000070018		0.443	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	120	0.00	0	G			12334290	12334290	-1	no_errors	ENST00000261349	ensembl	human	known	69_37n	silent	140	29.65	59	SNP	0.974	A
LRRC28	123355	genome.wustl.edu	37	15	99874329	99874329	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr15:99874329C>G	ENST00000301981.3	+	6	827	c.587C>G	c.(586-588)cCa>cGa	p.P196R	LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000447360.2_Missense_Mutation_p.P196R|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	196										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GCATTTTTGCCACTTGGTAAG	0.453																																						dbGAP											0													112.0	93.0	100.0					15																	99874329		2197	4297	6494	-	-	-	SO:0001583	missense	0			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.587C>G	15.37:g.99874329C>G	ENSP00000304923:p.Pro196Arg		A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P196R	ENST00000301981.3	37	c.587	CCDS10380.1	15	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759165	0.89843	.	.	ENSG00000168904	ENST00000301981;ENST00000447360	T;T	0.26067	1.76;1.76	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.52961	-0.8505	10	0.72032	D	0.01	.	18.8181	0.92085	0.0:1.0:0.0:0.0	.	196;196	Q86X40-2;Q86X40	.;LRC28_HUMAN	R	196	ENSP00000304923:P196R;ENSP00000404520:P196R	ENSP00000304923:P196R	P	+	2	0	LRRC28	97691852	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.168000	0.77570	2.775000	0.95449	0.585000	0.79938	CCA	LRRC28	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000168904		0.453	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	HGNC	protein_coding	OTTHUMT00000313546.1	223	0.00	0	C	NM_144598		99874329	99874329	+1	no_errors	ENST00000301981	ensembl	human	known	69_37n	missense	343	11.60	45	SNP	1.000	G
LRRC37A6P	387646	genome.wustl.edu	37	10	27540093	27540093	+	lincRNA	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:27540093G>A	ENST00000574842.1	+	0	2004				LRRC37A6P_ENST00000284414.4_RNA																							TGCTGAGCTAGATCTTTCTTC	0.383																																						dbGAP											0																																										-	-	-			0																															10.37:g.27540093G>A				RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-	ENSG00000230445		0.383	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	17	0.00	0	G			27540093	27540093	-1	no_errors	ENST00000574795	ensembl	human	known	69_37n	rna	10	37.50	6	SNP	0.018	A
LRRC4	64101	genome.wustl.edu	37	7	127670238	127670238	+	Silent	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:127670238G>T	ENST00000249363.3	-	2	713	c.456C>A	c.(454-456)ctC>ctA	p.L152L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	152					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TGCGAAGCCAGAGCTCCCGCA	0.602																																						dbGAP											0													73.0	78.0	76.0					7																	127670238		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.456C>A	7.37:g.127670238G>T			A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,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.L152	ENST00000249363.3	37	c.456	CCDS5799.1	7																																																																																			LRRC4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000128594		0.602	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	HGNC	protein_coding	OTTHUMT00000349170.1	155	0.00	0	G	NM_022143		127670238	127670238	-1	no_errors	ENST00000249363	ensembl	human	known	69_37n	silent	34	27.08	13	SNP	1.000	T
LRRD1	401387	genome.wustl.edu	37	7	91779947	91779947	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:91779947A>T	ENST00000458448.1	-	4	2379	c.2179T>A	c.(2179-2181)Ttt>Att	p.F727I	CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000422722.1_5'UTR|LRRD1_ENST00000343318.5_Missense_Mutation_p.F78I|LRRD1_ENST00000454089.2_Missense_Mutation_p.F78I|LRRD1_ENST00000430130.2_Missense_Mutation_p.F727I			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	727					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						TTGTCATCAAAATTTATCTCC	0.353																																						dbGAP											0													118.0	99.0	105.0					7																	91779947		692	1591	2283	-	-	-	SO:0001583	missense	0			BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.2179T>A	7.37:g.91779947A>T	ENSP00000405987:p.Phe727Ile		B7ZMM9|Q49AT9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death	p.F727I	ENST00000458448.1	37	c.2179	CCDS55124.1	7	.	.	.	.	.	.	.	.	.	.	A	21.0	4.083227	0.76642	.	.	ENSG00000240720	ENST00000343318;ENST00000458448;ENST00000430130;ENST00000454089	T;T;T;T	0.22134	2.08;1.97;1.97;2.08	5.61	5.61	0.85477	.	.	.	.	.	T	0.32071	0.0817	L	0.31926	0.97	0.35936	D	0.83287	D	0.76494	0.999	D	0.81914	0.995	T	0.34354	-0.9832	9	0.39692	T	0.17	.	9.9287	0.41507	0.9234:0.0:0.0766:0.0	.	727	A4D1F6	LRRD1_HUMAN	I	78;727;727;78	ENSP00000339642:F78I;ENSP00000405987:F727I;ENSP00000411568:F727I;ENSP00000392112:F78I	ENSP00000339642:F78I	F	-	1	0	LRRD1	91617883	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.077000	0.57598	2.133000	0.65898	0.533000	0.62120	TTT	LRRD1	-	NULL	ENSG00000240720		0.353	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRD1	HGNC	protein_coding	OTTHUMT00000342027.2	213	0.00	0	A	NM_001045475		91779947	91779947	-1	no_errors	ENST00000430130	ensembl	human	known	69_37n	missense	111	16.54	22	SNP	1.000	T
LRRC4	64101	genome.wustl.edu	37	7	127670241	127670241	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:127670241C>A	ENST00000249363.3	-	2	710	c.453G>T	c.(451-453)gaG>gaT	p.E151D	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	151					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GAAGCCAGAGCTCCCGCAGCT	0.607																																						dbGAP											0													72.0	77.0	75.0					7																	127670241		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.453G>T	7.37:g.127670241C>A	ENSP00000249363:p.Glu151Asp		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,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.E151D	ENST00000249363.3	37	c.453	CCDS5799.1	7	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874983	0.51695	.	.	ENSG00000128594	ENST00000249363;ENST00000494115	D;D	0.91521	-2.86;-2.67	4.56	3.68	0.42216	.	0.000000	0.64402	D	0.000001	D	0.92064	0.7485	L	0.52573	1.65	0.53005	D	0.999969	D	0.76494	0.999	D	0.79108	0.992	D	0.90748	0.4655	10	0.56958	D	0.05	.	7.1305	0.25497	0.0:0.7997:0.0:0.2003	.	151	Q9HBW1	LRRC4_HUMAN	D	151;69	ENSP00000249363:E151D;ENSP00000418254:E69D	ENSP00000249363:E151D	E	-	3	2	LRRC4	127457477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.585000	0.36600	1.098000	0.41479	0.655000	0.94253	GAG	LRRC4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000128594		0.607	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	HGNC	protein_coding	OTTHUMT00000349170.1	155	0.00	0	C	NM_022143		127670241	127670241	-1	no_errors	ENST00000249363	ensembl	human	known	69_37n	missense	34	30.61	15	SNP	1.000	A
LRSAM1	90678	genome.wustl.edu	37	9	130245270	130245271	+	Frame_Shift_Del	DEL	CT	CT	-	rs141912153	byFrequency	TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:130245270_130245271delCT	ENST00000323301.4	+	15	1734_1735	c.1130_1131delCT	c.(1129-1131)actfs	p.T377fs	LRSAM1_ENST00000300417.6_Frame_Shift_Del_p.T377fs|LRSAM1_ENST00000373322.1_Frame_Shift_Del_p.T377fs|LRSAM1_ENST00000373324.4_Frame_Shift_Del_p.T377fs|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	377					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						CAGGAGGAGACTGAGAGCCTGC	0.52																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_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.1130_1131delCT	9.37:g.130245270_130245271delCT	ENSP00000322937:p.Thr377fs		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Frame_Shift_Del	DEL	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.T377fs	ENST00000323301.4	37	c.1130_1131	CCDS6873.1	9																																																																																			LRSAM1	-	NULL	ENSG00000148356		0.520	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	282	0.00	0	CT	NM_138361		130245270	130245271	+1	no_errors	ENST00000300417	ensembl	human	known	69_37n	frame_shift_del	159	17.17	34	DEL	0.981:0.571	-
LTBP1	4052	genome.wustl.edu	37	2	33518252	33518252	+	Missense_Mutation	SNP	C	C	G	rs141576197		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:33518252C>G	ENST00000404816.2	+	20	3491	c.3138C>G	c.(3136-3138)aaC>aaG	p.N1046K	LTBP1_ENST00000390003.4_Missense_Mutation_p.N721K|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000404525.1_Missense_Mutation_p.N667K|LTBP1_ENST00000272273.5_5'UTR|LTBP1_ENST00000402934.1_Missense_Mutation_p.N667K|LTBP1_ENST00000354476.3_Missense_Mutation_p.N1047K|LTBP1_ENST00000407925.1_Missense_Mutation_p.N720K|LTBP1_ENST00000418533.2_Missense_Mutation_p.N720K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1046	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)				TGGAACCAAACGTCTGCGCAA	0.428																																						dbGAP											0													103.0	91.0	95.0					2																	33518252		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.3138C>G	2.37:g.33518252C>G	ENSP00000386043:p.Asn1046Lys		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.N1047K	ENST00000404816.2	37	c.3141	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	C	3.590	-0.083867	0.07141	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	5.66	-7.03	0.01584	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.79690	0.4489	L	0.46670	1.46	0.43907	D	0.996546	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.003;0.001;0.001;0.001;0.001;0.002	T	0.58200	-0.7678	9	0.20519	T	0.43	.	0.6039	0.00749	0.2513:0.1383:0.29:0.3204	.	1046;720;667;720;721;1047	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	K	1046;1047;721;720;667;667;720	ENSP00000386043:N1046K;ENSP00000346467:N1047K;ENSP00000374653:N721K;ENSP00000393057:N720K;ENSP00000384373:N667K;ENSP00000385359:N667K;ENSP00000384091:N720K	ENSP00000346467:N1047K	N	+	3	2	LTBP1	33371756	0.000000	0.05858	0.039000	0.18376	0.991000	0.79684	-2.450000	0.01007	-1.152000	0.02832	-0.266000	0.10368	AAC	LTBP1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000049323		0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	171	0.00	0	C	NM_206943		33518252	33518252	+1	no_errors	ENST00000354476	ensembl	human	known	69_37n	missense	92	36.99	54	SNP	0.001	G
LYST	1130	genome.wustl.edu	37	1	235875443	235875443	+	Missense_Mutation	SNP	C	C	G	rs368573685		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:235875443C>G	ENST00000389794.3	-	43	10013	c.9839G>C	c.(9838-9840)cGa>cCa	p.R3280P	LYST_ENST00000389793.2_Missense_Mutation_p.R3280P|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3280	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGATGAGAGTCGCCAAGTTGT	0.318																																						dbGAP											0													19.0	18.0	18.0					1																	235875443		2192	4282	6474	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9839G>C	1.37:g.235875443C>G	ENSP00000374444:p.Arg3280Pro		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R3280P	ENST00000389794.3	37	c.9839	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831205	0.91036	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.80653	-1.4;-1.4	5.5	5.5	0.81552	BEACH domain (4);	0.094778	0.64402	D	0.000001	D	0.91436	0.7297	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92309	0.5856	10	0.87932	D	0	.	19.3853	0.94554	0.0:1.0:0.0:0.0	.	3280	Q99698	LYST_HUMAN	P	3280	ENSP00000374444:R3280P;ENSP00000374443:R3280P	ENSP00000374443:R3280P	R	-	2	0	LYST	233942066	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.620000	0.61226	2.741000	0.93983	0.585000	0.79938	CGA	LYST	-	pfam_BEACH_dom,superfamily_BEACH_dom,superfamily_ARM-type_fold,pfscan_BEACH_dom	ENSG00000143669		0.318	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	64	0.00	0	C			235875443	235875443	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	1.000	G
MAD1L1	8379	genome.wustl.edu	37	7	2054170	2054170	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:2054170delC	ENST00000406869.1	-	13	1883	c.1326delG	c.(1324-1326)gtgfs	p.V442fs	MAD1L1_ENST00000399654.2_Frame_Shift_Del_p.V442fs|MAD1L1_ENST00000402746.1_Frame_Shift_Del_p.V350fs|MAD1L1_ENST00000265854.7_Frame_Shift_Del_p.V442fs			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	442	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCACCTTCTGCACCATATCCT	0.692																																						dbGAP											0													31.0	39.0	36.0					7																	2054170		2179	4273	6452	-	-	-	SO:0001589	frameshift_variant	0			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1326delG	7.37:g.2054170delC	ENSP00000385334:p.Val442fs		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Frame_Shift_Del	DEL	pfam_MAD	p.Q443fs	ENST00000406869.1	37	c.1326	CCDS43539.1	7																																																																																			MAD1L1	-	pfam_MAD	ENSG00000002822		0.692	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAD1L1	HGNC	protein_coding	OTTHUMT00000322871.1	19	0.00	0	C	NM_003550		2054170	2054170	-1	no_errors	ENST00000265854	ensembl	human	known	69_37n	frame_shift_del	3	40.00	2	DEL	0.999	-
MAD2L2	10459	genome.wustl.edu	37	1	11740518	11740519	+	In_Frame_Ins	INS	-	-	ATT	rs137992567		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:11740518_11740519insATT	ENST00000235310.3	-	5	978_979	c.50_51insAAT	c.(49-51)gat>gaAATt	p.17_17D>EI	MAD2L2_ENST00000376672.1_In_Frame_Ins_p.17_17D>EI|MAD2L2_ENST00000376692.4_In_Frame_Ins_p.17_17D>EI|MAD2L2_ENST00000376669.5_In_Frame_Ins_p.17_17D>EI|MAD2L2_ENST00000376667.3_In_Frame_Ins_p.17_17D>EI			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	17	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.			D -> A (in Ref. 3; AAD30290). {ECO:0000305}.	actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGCAGAGCACATCGGCCACCAC	0.683								DNA polymerases (catalytic subunits)																														dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"""DNA polymerases"""	6764	protein-coding gene	gene with protein product	"""mitotic arrest deficient homolog-like 2"", ""polymerase (DNA-directed), zeta 2, accessory subunit"""	604094	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"""			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.50_51insAAT	1.37:g.11740518_11740519insATT	ENSP00000235310:p.Asp17delinsGluIle		B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	In_Frame_Ins	INS	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.D17in_frame_insEI	ENST00000235310.3	37	c.51_50	CCDS134.1	1																																																																																			MAD2L2	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000116670		0.683	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L2	HGNC	protein_coding	OTTHUMT00000006344.2	56	0.00	0	-	NM_006341		11740518	11740519	-1	no_errors	ENST00000376669	ensembl	human	known	69_37n	in_frame_ins	24	29.41	10	INS	0.940:1.000	ATT
MAD2L2	10459	genome.wustl.edu	37	1	11740524	11740525	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:11740524_11740525delCA	ENST00000235310.3	-	5	972_973	c.44_45delTG	c.(43-45)gtgfs	p.V15fs	MAD2L2_ENST00000376672.1_Frame_Shift_Del_p.V15fs|MAD2L2_ENST00000376692.4_Frame_Shift_Del_p.V15fs|MAD2L2_ENST00000376669.5_Frame_Shift_Del_p.V15fs|MAD2L2_ENST00000376667.3_Frame_Shift_Del_p.V15fs			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	15	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCACATCGGCCACCACTGCAGG	0.683								DNA polymerases (catalytic subunits)																														dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"""DNA polymerases"""	6764	protein-coding gene	gene with protein product	"""mitotic arrest deficient homolog-like 2"", ""polymerase (DNA-directed), zeta 2, accessory subunit"""	604094	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"""			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.44_45delTG	1.37:g.11740524_11740525delCA	ENSP00000235310:p.Val15fs		B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Frame_Shift_Del	DEL	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.V15fs	ENST00000235310.3	37	c.45_44	CCDS134.1	1																																																																																			MAD2L2	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000116670		0.683	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L2	HGNC	protein_coding	OTTHUMT00000006344.2	52	0.00	0	CA	NM_006341		11740524	11740525	-1	no_errors	ENST00000376669	ensembl	human	known	69_37n	frame_shift_del	21	26.67	8	DEL	1.000:1.000	-
MAG	4099	genome.wustl.edu	37	19	35802828	35802828	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:35802828G>A	ENST00000392213.3	+	10	1783	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	MAG_ENST00000361922.4_Missense_Mutation_p.V542M|MAG_ENST00000537831.2_Missense_Mutation_p.V517M|MAG_ENST00000593348.1_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	542					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGAAAGAACGTGACAGAGAG	0.592																																						dbGAP											0													49.0	36.0	41.0					19																	35802828		2203	4300	6503	-	-	-	SO:0001583	missense	0			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1624G>A	19.37:g.35802828G>A	ENSP00000376048:p.Val542Met		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V542M	ENST00000392213.3	37	c.1624	CCDS12455.1	19	.	.	.	.	.	.	.	.	.	.	g	12.31	1.900267	0.33535	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.65364	-0.01;-0.15;-0.07	5.26	2.89	0.33648	.	0.215076	0.37623	N	0.002003	T	0.28566	0.0707	N	0.02539	-0.55	0.31720	N	0.638427	B;B;B	0.16166	0.016;0.007;0.007	B;B;B	0.06405	0.002;0.002;0.002	T	0.13442	-1.0509	10	0.35671	T	0.21	.	3.2183	0.06706	0.1915:0.0:0.5766:0.2319	.	579;542;542	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	M	579;542;542;517	ENSP00000355234:V542M;ENSP00000376048:V542M;ENSP00000440695:V517M	ENSP00000262624:V579M	V	+	1	0	MAG	40494668	0.999000	0.42202	0.999000	0.59377	0.952000	0.60782	1.736000	0.38187	2.466000	0.83321	0.556000	0.70494	GTG	MAG	-	NULL	ENSG00000105695		0.592	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	HGNC	protein_coding	OTTHUMT00000466071.1	35	0.00	0	G	NM_080600		35802828	35802828	+1	no_errors	ENST00000392213	ensembl	human	known	69_37n	missense	29	36.96	17	SNP	0.986	A
MAGI2	9863	genome.wustl.edu	37	7	77764386	77764386	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:77764386T>A	ENST00000354212.4	-	17	3236	c.2983A>T	c.(2983-2985)Atc>Ttc	p.I995F	MAGI2_ENST00000419488.1_Missense_Mutation_p.I981F|MAGI2_ENST00000522391.1_Missense_Mutation_p.I995F	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	995	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCATCCTTGATGAGCTTCACG	0.537																																						dbGAP											0													258.0	189.0	212.0					7																	77764386		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2983A>T	7.37:g.77764386T>A	ENSP00000346151:p.Ile995Phe		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	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.I995F	ENST00000354212.4	37	c.2983	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	T	32	5.155476	0.94686	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.35048	1.33;1.33;1.33	6.06	6.06	0.98353	PDZ/DHR/GLGF (4);	0.000000	0.36854	U	0.002362	T	0.63977	0.2557	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	T	0.67787	-0.5580	10	0.66056	D	0.02	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	995;981;995	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	F	981;995;995;995	ENSP00000405766:I981F;ENSP00000346151:I995F;ENSP00000428389:I995F	ENSP00000346151:I995F	I	-	1	0	MAGI2	77602322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.302000	0.72788	2.324000	0.78689	0.533000	0.62120	ATC	MAGI2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000187391		0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	162	0.00	0	T	NM_012301		77764386	77764386	-1	no_errors	ENST00000354212	ensembl	human	known	69_37n	missense	63	41.67	45	SNP	1.000	A
MAMLD1	10046	genome.wustl.edu	37	X	149639505	149639505	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:149639505C>T	ENST00000370401.2	+	4	1970	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	MAMLD1_ENST00000455522.2_Missense_Mutation_p.P35S|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P554S|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P529S|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P529S			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	554					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCCGGGTCCCCAGAAGAT	0.602																																						dbGAP											0													132.0	117.0	122.0					X																	149639505		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1660C>T	X.37:g.149639505C>T	ENSP00000359428:p.Pro554Ser		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.P529S	ENST00000370401.2	37	c.1585	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	C	8.226	0.803673	0.16467	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.58	3.71	0.42584	.	0.348099	0.28151	N	0.016419	T	0.82176	0.4980	M	0.64997	1.995	0.23893	N	0.996544	B;D;P	0.59767	0.319;0.986;0.577	B;P;B	0.56088	0.187;0.791;0.187	T	0.71258	-0.4646	10	0.24483	T	0.36	-18.15	8.843	0.35153	0.2464:0.4195:0.3341:0.0	.	529;529;554	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	S	554;529;554;529;35	ENSP00000359428:P554S;ENSP00000414517:P529S;ENSP00000262858:P554S;ENSP00000397438:P529S;ENSP00000389106:P35S	ENSP00000262858:P554S	P	+	1	0	MAMLD1	149390163	0.017000	0.18338	0.766000	0.31476	0.293000	0.27360	0.327000	0.19663	1.088000	0.41272	0.600000	0.82982	CCC	MAMLD1	-	NULL	ENSG00000013619		0.602	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	172	0.00	0	C	NM_005491		149639505	149639505	+1	no_errors	ENST00000432680	ensembl	human	known	69_37n	missense	70	14.63	12	SNP	0.436	T
MAP4K2	5871	genome.wustl.edu	37	11	64569272	64569272	+	Intron	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:64569272G>T	ENST00000294066.2	-	6	458				MAP4K2_ENST00000468062.1_Intron|MEN1_ENST00000478548.1_5'Flank|MAP4K2_ENST00000377350.3_Intron	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2						activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						ACCCAGCACTGTCCCACCTCC	0.607											OREG0004013	type=REGULATORY REGION|Gene=AF161342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													33.0	34.0	34.0					11																	64569272		2200	4297	6497	-	-	-	SO:0001627	intron_variant	0			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.367-43C>A	11.37:g.64569272G>T		1077	Q86VU3	RNA	SNP	-	NULL	ENST00000294066.2	37	NULL	CCDS8082.1	11																																																																																			MAP4K2	-	-	ENSG00000168067		0.607	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	61	0.00	0	G	NM_004579		64569272	64569272	-1	no_errors	ENST00000493428	ensembl	human	known	69_37n	rna	6	40.00	4	SNP	0.000	T
MAPRE3	22924	genome.wustl.edu	37	2	27248516	27248517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:27248516_27248517insC	ENST00000233121.2	+	5	733_734	c.535_536insC	c.(535-537)gccfs	p.A179fs	MAPRE3_ENST00000402218.1_Frame_Shift_Ins_p.A164fs|MAPRE3_ENST00000405074.3_Frame_Shift_Ins_p.A164fs			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	179					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.C182fs*16(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATGTGGCCCCCCCCTGC	0.564																																						dbGAP											2	Insertion - Frameshift(2)	ovary(1)|large_intestine(1)								39,4227		0,39,2094						4.4	1.0			60	29,8225		0,29,4098	no	frameshift	MAPRE3	NM_012326.2		0,68,6192	A1A1,A1R,RR		0.3513,0.9142,0.5431				68,12452				-	-	-	SO:0001589	frameshift_variant	0			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.543dupC	2.37:g.27248524_27248524dupC	ENSP00000233121:p.Ala179fs		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Frame_Shift_Ins	INS	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	p.C182fs	ENST00000233121.2	37	c.535_536	CCDS1731.1	2																																																																																			MAPRE3	-	NULL	ENSG00000084764		0.564	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE3	HGNC	protein_coding	OTTHUMT00000214183.1	78	0.00	0	-	NM_012326		27248516	27248517	+1	no_errors	ENST00000233121	ensembl	human	known	69_37n	frame_shift_ins	64	13.51	10	INS	0.999:1.000	C
MAST3	23031	genome.wustl.edu	37	19	18254639	18254639	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:18254639C>T	ENST00000262811.6	+	21	2319	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	773							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AGCGGGGTCCCAGCCCATCTC	0.612																																						dbGAP											0													35.0	39.0	38.0					19																	18254639		1991	4164	6155	-	-	-	SO:0001819	synonymous_variant	0			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2319C>T	19.37:g.18254639C>T			Q7LDZ8|Q9UPI0	Silent	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.P773	ENST00000262811.6	37	c.2319	CCDS46014.1	19																																																																																			MAST3	-	NULL	ENSG00000099308		0.612	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	65	0.00	0	C	XM_038150		18254639	18254639	+1	no_errors	ENST00000262811	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	0.992	T
MCAM	4162	genome.wustl.edu	37	11	119183561	119183561	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:119183561G>C	ENST00000264036.4	-	6	672	c.658C>G	c.(658-660)Cag>Gag	p.Q220E	MCAM_ENST00000392814.1_Missense_Mutation_p.Q169E|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	220	Ig-like V-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CAGTAAAACTGGGCATCTTTG	0.512																																						dbGAP											0													119.0	117.0	118.0					11																	119183561		2199	4295	6494	-	-	-	SO:0001583	missense	0			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.658C>G	11.37:g.119183561G>C	ENSP00000264036:p.Gln220Glu		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q220E	ENST00000264036.4	37	c.658	CCDS31690.1	11	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008905	0.35415	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.74947	-0.89;-0.89	5.69	5.69	0.88448	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64249	0.2581	L	0.34521	1.04	0.30891	N	0.730297	B	0.15930	0.015	B	0.23150	0.044	T	0.56768	-0.7924	9	0.11485	T	0.65	-11.0093	14.4173	0.67158	0.0:0.1472:0.8528:0.0	.	220	P43121	MUC18_HUMAN	E	220;169	ENSP00000264036:Q220E;ENSP00000376561:Q169E	ENSP00000264036:Q220E	Q	-	1	0	MCAM	118688771	0.944000	0.32072	1.000000	0.80357	0.986000	0.74619	1.769000	0.38522	2.681000	0.91329	0.561000	0.74099	CAG	MCAM	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000076706		0.512	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	HGNC	protein_coding	OTTHUMT00000388332.2	149	0.00	0	G			119183561	119183561	-1	no_errors	ENST00000264036	ensembl	human	known	69_37n	missense	40	39.39	26	SNP	0.986	C
MCM3AP	8888	genome.wustl.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)cggfs	p.R1760fs	MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.R1760fs|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1760	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5279dupC	21.37:g.47663403_47663403dupG	ENSP00000380820:p.Arg1760fs		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R1760fs	ENST00000397708.1	37	c.5279_5278	CCDS13734.1	21																																																																																			MCM3AP	-	NULL	ENSG00000160294		0.525	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	60	0.00	0	-	NM_003906		47663396	47663397	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	frame_shift_ins	41	10.87	5	INS	0.278:0.019	G
MCM5	4174	genome.wustl.edu	37	22	35815944	35815944	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:35815944A>T	ENST00000216122.4	+	14	1925	c.1771A>T	c.(1771-1773)Agc>Tgc	p.S591C	MCM5_ENST00000382011.5_Missense_Mutation_p.S548C	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	591				S -> T (in Ref. 3; BAA12176). {ECO:0000305}.	DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CATCATGCGGAGCGGGGCCCG	0.662																																						dbGAP											0													60.0	63.0	62.0					22																	35815944		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1771A>T	22.37:g.35815944A>T	ENSP00000216122:p.Ser591Cys		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	p.S591C	ENST00000216122.4	37	c.1771	CCDS13915.1	22	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156653	0.57259	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.07327	3.2;3.2	5.45	5.45	0.79879	.	0.080122	0.85682	D	0.000000	T	0.19485	0.0468	M	0.87971	2.92	0.80722	D	1	B;B;B;B	0.25272	0.122;0.122;0.025;0.122	B;B;B;B	0.30105	0.111;0.111;0.111;0.111	T	0.01810	-1.1269	10	0.66056	D	0.02	-31.1455	15.5271	0.75919	1.0:0.0:0.0:0.0	.	591;591;548;591	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	C	591;548	ENSP00000216122:S591C;ENSP00000371441:S548C	ENSP00000216122:S591C	S	+	1	0	MCM5	34145944	1.000000	0.71417	0.999000	0.59377	0.414000	0.31173	8.238000	0.89809	2.069000	0.61940	0.448000	0.29417	AGC	MCM5	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase	ENSG00000100297		0.662	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	HGNC	protein_coding	OTTHUMT00000320661.3	31	0.00	0	A			35815944	35815944	+1	no_errors	ENST00000216122	ensembl	human	known	69_37n	missense	13	21.05	4	SNP	1.000	T
MCOLN2	255231	genome.wustl.edu	37	1	85405236	85405236	+	Splice_Site	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:85405236C>T	ENST00000370608.3	-	9	1177	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	MCOLN2_ENST00000284027.5_Splice_Site_p.K342K|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	370			K -> Q (in dbSNP:rs6704203).		calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CTTCCCTCACCTTTGCTTTGA	0.453																																						dbGAP											0													93.0	90.0	91.0					1																	85405236		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1110+1G>A	1.37:g.85405236C>T			A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Silent	SNP	pfam_PKD1_2_channel	p.K370	ENST00000370608.3	37	c.1110	CCDS30762.1	1																																																																																			MCOLN2	-	NULL	ENSG00000153898		0.453	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	MCOLN2	HGNC	protein_coding	OTTHUMT00000027567.2	100	0.00	0	C	NM_153259	Silent	85405236	85405236	-1	no_errors	ENST00000370608	ensembl	human	known	69_37n	silent	48	76.59	157	SNP	1.000	T
MDC1	9656	genome.wustl.edu	37	6	30673139	30673139	+	Missense_Mutation	SNP	T	T	C	rs569752823		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:30673139T>C	ENST00000376406.3	-	10	4468	c.3821A>G	c.(3820-3822)aAt>aGt	p.N1274S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.N1010S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1274	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGAGGATCTATTTTTTCTTCC	0.582								Other conserved DNA damage response genes					T|||	1	0.000199681	0.0	0.0014	5008	,	,		19651	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													126.0	143.0	137.0					6																	30673139		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3821A>G	6.37:g.30673139T>C	ENSP00000365588:p.Asn1274Ser		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.N1274S	ENST00000376406.3	37	c.3821	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	T	3.316	-0.139777	0.06669	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000422104	T;T	0.09445	2.98;2.98	2.95	-1.68	0.08212	.	1.464360	0.04942	N	0.458787	T	0.01592	0.0051	L	0.31294	0.92	0.09310	N	1	P;B	0.47910	0.902;0.005	B;B	0.36719	0.231;0.002	T	0.36480	-0.9746	10	0.08179	T	0.78	.	6.8536	0.24028	0.0:0.5553:0.0:0.4447	.	1010;1274	Q14676-2;Q14676	.;MDC1_HUMAN	S	1274;1010;881	ENSP00000365588:N1274S;ENSP00000365587:N1010S	ENSP00000365587:N1010S	N	-	2	0	MDC1	30781118	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.410000	0.02480	-0.309000	0.08779	0.392000	0.25879	AAT	MDC1	-	NULL	ENSG00000137337		0.582	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	307	0.32	1	T	NM_014641		30673139	30673139	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	missense	458	10.00	51	SNP	0.000	C
MDN1	23195	genome.wustl.edu	37	6	90397097	90397097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:90397097G>A	ENST00000369393.3	-	68	11531	c.11416C>T	c.(11416-11418)Cag>Tag	p.Q3806*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q3806*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3806					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)			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)		ATGATCATCTGACTGATCAAA	0.378																																						dbGAP											0													103.0	93.0	97.0					6																	90397097		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.11416C>T	6.37:g.90397097G>A	ENSP00000358400:p.Gln3806*		O15019|Q5T794	Nonsense_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.Q3806*	ENST00000369393.3	37	c.11416	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	53	21.060637	0.99937	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	6.07	4.24	0.50183	.	0.125962	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	13.2949	0.60292	0.0:0.1221:0.7506:0.1273	.	.	.	.	X	3806	.	ENSP00000358400:Q3806X	Q	-	1	0	MDN1	90453818	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.822000	0.99363	0.834000	0.34852	-0.175000	0.13238	CAG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.378	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	164	0.00	0	G			90397097	90397097	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	nonsense	58	51.26	61	SNP	1.000	A
MEFV	4210	genome.wustl.edu	37	16	3293337	3293337	+	Missense_Mutation	SNP	C	C	T	rs545517350		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:3293337C>T	ENST00000219596.1	-	10	2189	c.2150G>A	c.(2149-2151)cGt>cAt	p.R717H	MEFV_ENST00000339854.4_Missense_Mutation_p.R537H|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.R506H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	717	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R717H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GATGCCCACACGCTTGGGAGG	0.522																																						dbGAP											1	Substitution - Missense(1)	biliary_tract(1)											106.0	104.0	105.0					16																	3293337		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2150G>A	16.37:g.3293337C>T	ENSP00000219596:p.Arg717His		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.R717H	ENST00000219596.1	37	c.2150	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324507	0.24080	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.70986	-0.53;-0.53;-0.53	5.56	2.48	0.30137	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.989497	0.08219	N	0.979381	T	0.67534	0.2903	M	0.75777	2.31	0.09310	N	1	P	0.35944	0.529	B	0.30105	0.111	T	0.54241	-0.8323	10	0.45353	T	0.12	-23.4999	9.1866	0.37174	0.0:0.7525:0.0:0.2475	.	717	O15553	MEFV_HUMAN	H	717;537;506	ENSP00000219596:R717H;ENSP00000339639:R537H;ENSP00000445079:R506H	ENSP00000219596:R717H	R	-	2	0	MEFV	3233338	0.000000	0.05858	0.013000	0.15412	0.572000	0.35998	-0.106000	0.10890	0.356000	0.24157	0.650000	0.86243	CGT	MEFV	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000103313		0.522	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	198	0.50	1	C	NM_000243		3293337	3293337	-1	no_errors	ENST00000219596	ensembl	human	known	69_37n	missense	60	48.72	57	SNP	0.028	T
MGAT4A	11320	genome.wustl.edu	37	2	99343017	99343017	+	5'UTR	SNP	G	G	C	rs565571877		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:99343017G>C	ENST00000264968.3	-	0	142				MGAT4A_ENST00000409391.1_5'UTR|MGAT4A_ENST00000495056.2_5'UTR|MGAT4A_ENST00000393487.1_5'UTR			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A						cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTGATGCCTCGGCCTTTTCCC	0.438																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.-222C>G	2.37:g.99343017G>C			B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	RNA	SNP	-	NULL	ENST00000264968.3	37	NULL	CCDS2036.1	2																																																																																			MGAT4A	-	-	ENSG00000071073		0.438	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4A	HGNC	protein_coding	OTTHUMT00000252988.2	16	0.00	0	G	NM_012214		99343017	99343017	-1	no_errors	ENST00000460768	ensembl	human	known	69_37n	rna	9	30.77	4	SNP	0.000	C
METTL8	79828	genome.wustl.edu	37	2	172195922	172195922	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:172195922T>A	ENST00000375258.4	-	4	593	c.378A>T	c.(376-378)agA>agT	p.R126S		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	126						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						ATGATGATTCTCTCGCCTTCT	0.358																																						dbGAP											0													152.0	143.0	146.0					2																	172195922		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.378A>T	2.37:g.172195922T>A	ENSP00000364407:p.Arg126Ser		Q53TM9|Q53TQ0	Missense_Mutation	SNP	pfam_Methyltransf_11	p.R126S	ENST00000375258.4	37	c.378		2	.	.	.	.	.	.	.	.	.	.	T	2.939	-0.219391	0.06061	.	.	ENSG00000123600	ENST00000375258;ENST00000392599;ENST00000442778	T;T;T	0.41758	2.6;2.32;0.99	5.92	3.62	0.41486	.	0.998062	0.08115	N	0.995561	T	0.20618	0.0496	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.13145	0.007;0.001;0.007	B;B;B	0.15870	0.014;0.001;0.009	T	0.16600	-1.0397	10	0.10902	T	0.67	-0.8073	7.73	0.28781	0.0:0.2418:0.0:0.7582	.	81;126;126	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	S	126	ENSP00000364407:R126S;ENSP00000376377:R126S;ENSP00000404646:R126S	ENSP00000364407:R126S	R	-	3	2	METTL8	171904168	0.000000	0.05858	0.831000	0.32960	0.112000	0.19704	-0.028000	0.12350	2.267000	0.75376	0.477000	0.44152	AGA	METTL8	-	NULL	ENSG00000123600		0.358	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	METTL8	HGNC	protein_coding	OTTHUMT00000255345.3	258	0.00	0	T	NM_024770		172195922	172195922	-1	no_errors	ENST00000392604	ensembl	human	known	69_37n	missense	70	85.52	449	SNP	0.027	A
MGRN1	23295	genome.wustl.edu	37	16	4723519	4723519	+	Missense_Mutation	SNP	C	C	G	rs367993132		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:4723519C>G	ENST00000399577.5	+	10	909	c.816C>G	c.(814-816)agC>agG	p.S272R	MGRN1_ENST00000415496.1_Missense_Mutation_p.S273R|MGRN1_ENST00000262370.7_Missense_Mutation_p.S272R|MGRN1_ENST00000586183.1_Missense_Mutation_p.S272R|MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000588994.1_Missense_Mutation_p.S272R	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	272					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						ACGAGAACAGCGACAACAGCA	0.657																																						dbGAP											0													159.0	176.0	170.0					16																	4723519		2197	4299	6496	-	-	-	SO:0001583	missense	0			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.816C>G	16.37:g.4723519C>G	ENSP00000382487:p.Ser272Arg		A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S272R	ENST00000399577.5	37	c.816	CCDS45402.1	16	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499648	0.44455	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.34275	1.38;1.37;1.37;1.42	4.8	-4.86	0.03132	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	M	0.65975	2.015	0.58432	D	0.999998	P;P;P;P;P;P	0.50819	0.874;0.912;0.896;0.939;0.548;0.821	P;P;P;P;B;P	0.59703	0.512;0.862;0.491;0.732;0.41;0.491	T	0.51252	-0.8729	10	0.44086	T	0.13	-15.1639	12.2817	0.54767	0.0:0.7202:0.0:0.2798	.	272;272;272;273;272;272	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	R	272;272;273;272	ENSP00000262370:S272R;ENSP00000382487:S272R;ENSP00000393311:S273R;ENSP00000443810:S272R	ENSP00000262370:S272R	S	+	3	2	MGRN1	4663520	0.000000	0.05858	0.983000	0.44433	0.633000	0.38033	-2.102000	0.01343	-0.747000	0.04759	-0.602000	0.04101	AGC	MGRN1	-	NULL	ENSG00000102858		0.657	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	66	0.00	0	C			4723519	4723519	+1	no_errors	ENST00000262370	ensembl	human	known	69_37n	missense	31	40.38	21	SNP	0.988	G
MICALL2	79778	genome.wustl.edu	37	7	1474082	1474082	+	3'UTR	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:1474082G>A	ENST00000297508.7	-	0	3040				MICALL2_ENST00000405088.4_3'UTR|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2						actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGGGACAGGAGGCCCTTCCCG	0.662																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.*150C>T	7.37:g.1474082G>A			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	RNA	SNP	-	NULL	ENST00000297508.7	37	NULL	CCDS5324.1	7																																																																																			MICALL2	-	-	ENSG00000164877		0.662	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	54	0.00	0	G	NM_182924		1474082	1474082	-1	no_errors	ENST00000471899	ensembl	human	known	69_37n	rna	11	76.09	35	SNP	0.000	A
MICALL2	79778	genome.wustl.edu	37	7	1474084	1474085	+	3'UTR	DEL	CC	CC	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:1474084_1474085delCC	ENST00000297508.7	-	0	3037_3038				MICALL2_ENST00000405088.4_3'UTR|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2						actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGACAGGAGGCCCTTCCCGAGT	0.663																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.*148GG>-	7.37:g.1474084_1474085delCC			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	RNA	DEL	-	NULL	ENST00000297508.7	37	NULL	CCDS5324.1	7																																																																																			MICALL2	-	-	ENSG00000164877		0.663	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	52	0.00	0	CC	NM_182924		1474084	1474085	-1	no_errors	ENST00000471899	ensembl	human	known	69_37n	rna	10	74.47	35	DEL	0.013:0.015	-
C9orf3	84909	genome.wustl.edu	37	9	97847768	97847768	+	Intron	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:97847768G>T	ENST00000375315.2	+	16	2464				C9orf3_ENST00000297979.5_Intron|MIR27B_ENST00000385129.1_RNA|MIR23B_ENST00000384832.1_RNA|MIR3074_ENST00000384885.2_RNA	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3						leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TTGGTGAACAGTGATTGGTTT	0.532																																						dbGAP											0													72.0	66.0	68.0					9																	97847768		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2458-1196G>T	9.37:g.97847768G>T			Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	RNA	SNP	-	NULL	ENST00000375315.2	37	NULL	CCDS55328.1	9																																																																																			MIR27B	-	-	ENSG00000207864		0.532	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR27B	HGNC	protein_coding		138	0.00	0	G	NM_032823		97847768	97847768	+1	no_errors	ENST00000385129	ensembl	human	known	69_37n	rna	24	22.58	7	SNP	1.000	T
C17orf49	124944	genome.wustl.edu	37	17	6920924	6920924	+	IGR	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:6920924C>G	ENST00000439424.2	+	0	850				RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000385194.1_RNA|MIR497HG_ENST00000572453.1_RNA|MIR497HG_ENST00000443997.1_RNA|MIR497HG_ENST00000385056.1_RNA	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49						chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						AGCCCCTCCTCGGTAGTTTTC	0.552																																						dbGAP											0													18.0	17.0	18.0					17																	6920924		1568	3582	5150	-	-	-	SO:0001628	intergenic_variant	0			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147		17.37:g.6920924C>G			B4DIV3|C9J4G0|E9PB29	RNA	SNP	-	NULL	ENST00000439424.2	37	NULL	CCDS32542.1	17																																																																																			MIR497HG	-	-	ENSG00000267532		0.552	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR497HG	HGNC	protein_coding	OTTHUMT00000407666.1	46	0.00	0	C	NM_174893		6920924	6920924	-1	no_errors	ENST00000572453	ensembl	human	known	69_37n	rna	30	46.43	26	SNP	0.000	G
C17orf49	124944	genome.wustl.edu	37	17	6921127	6921128	+	IGR	DNP	GC	GC	AG			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:6921127_6921128GC>AG	ENST00000439424.2	+	0	850				RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000385194.1_RNA|MIR497HG_ENST00000572453.1_RNA|MIR497HG_ENST00000443997.1_RNA|MIR497HG_ENST00000385056.1_RNA	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49						chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						TTAGAGGGGTGCTTACATACCC	0.52																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	Exception_encountered	17.37:g.6921127_6921128delinsAG			B4DIV3|C9J4G0|E9PB29	RNA	SNP	-	NULL	ENST00000439424.2	37	NULL	CCDS32542.1	17																																																																																			MIR497HG	-	-	ENSG00000267532		0.520	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR497HG	HGNC	protein_coding	OTTHUMT00000407666.1	45	0.00	0	G|C	NM_174893		6921127|6921128	6921127|6921128	-1	no_errors	ENST00000572453	ensembl	human	known	69_37n	rna	59|30	59.03|56.72	85|76	SNP	0.002	A|G
C17orf49	124944	genome.wustl.edu	37	17	6921131	6921133	+	IGR	DEL	ACA	ACA	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	ACA	ACA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:6921131_6921133delACA	ENST00000439424.2	+	0	850				RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000385194.1_RNA|MIR497HG_ENST00000572453.1_RNA|MIR497HG_ENST00000443997.1_RNA|MIR497HG_ENST00000385056.1_RNA	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49						chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						AGGGGTGCTTACATACCCCACCC	0.517																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147		17.37:g.6921131_6921133delACA			B4DIV3|C9J4G0|E9PB29	RNA	DEL	-	NULL	ENST00000439424.2	37	NULL	CCDS32542.1	17																																																																																			MIR497HG	-	-	ENSG00000267532		0.517	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR497HG	HGNC	protein_coding	OTTHUMT00000407666.1	41	0.00	0	ACA	NM_174893		6921131	6921133	-1	no_errors	ENST00000572453	ensembl	human	known	69_37n	rna	28	30.00	12	DEL	0.001:0.003:0.000	-
MIR520F	574464	genome.wustl.edu	37	19	54183218	54183219	+	RNA	DNP	GG	GG	AA			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:54183218_54183219GG>AA	ENST00000384824.1	+	0	0				MIR515-1_ENST00000384884.1_RNA|MIR519E_ENST00000385075.1_RNA	NR_030186.1				microRNA 520f																		TCTCCAAAAGGGAGCACTTTCT	0.386																																						dbGAP											0																																										-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207555	ENSG00000207555		"""ncRNAs / Micro RNAs"""	32096	non-coding RNA	RNA, micro				MIRN520F			Standard	NR_030186		Approved	hsa-mir-520f	uc021uzp.1			Exception_encountered	19.37:g.54183218_54183219delinsAA				RNA	SNP	-	NULL	ENST00000384824.1	37	NULL		19																																																																																			MIR519E	-	-	ENSG00000207810		0.386	MIR520F-201	KNOWN	basic	miRNA	MIR519E	HGNC	miRNA		277|276	0.00	0	G	NR_030186		54183218|54183219	54183218|54183219	+1	no_errors	ENST00000385075	ensembl	human	known	69_37n	rna	377|382	62.57|61.26	632|604	SNP	0.003|0.001	A
KMT2D	8085	genome.wustl.edu	37	12	49420223	49420223	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:49420223G>T	ENST00000301067.7	-	48	15525	c.15526C>A	c.(15526-15528)Cac>Aac	p.H5176N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5176	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGGAACATGTGCAGCCGTTCT	0.582																																						dbGAP											0													43.0	45.0	45.0					12																	49420223		2124	4221	6345	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15526C>A	12.37:g.49420223G>T	ENSP00000301067:p.His5176Asn		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,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_RING	p.H5176N	ENST00000301067.7	37	c.15526	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497665	0.44455	.	.	ENSG00000167548	ENST00000301067	T	0.79653	-1.29	4.9	4.9	0.64082	.	0.000000	0.38778	N	0.001576	D	0.87103	0.6094	L	0.48986	1.54	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.88437	0.3039	10	0.87932	D	0	.	17.2324	0.86988	0.0:0.0:1.0:0.0	.	5176	O14686	MLL2_HUMAN	N	5176	ENSP00000301067:H5176N	ENSP00000301067:H5176N	H	-	1	0	MLL2	47706490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.447000	0.82792	0.655000	0.94253	CAC	MLL2	-	NULL	ENSG00000167548		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	58	0.00	0	G			49420223	49420223	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	26	22.86	8	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151860091	151860091	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:151860091A>G	ENST00000262189.6	-	43	10789	c.10571T>C	c.(10570-10572)gTt>gCt	p.V3524A	KMT2C_ENST00000355193.2_Missense_Mutation_p.V3524A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3524					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGGCTTCCAACAGGGATTGA	0.473																																						dbGAP											0													107.0	113.0	111.0					7																	151860091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10571T>C	7.37:g.151860091A>G	ENSP00000262189:p.Val3524Ala		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.V3524A	ENST00000262189.6	37	c.10571	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	A	8.081	0.772321	0.16051	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.88354	-1.66;-1.72;-2.37	5.51	4.61	0.57282	.	0.143087	0.31335	N	0.007837	T	0.71970	0.3403	N	0.03608	-0.345	0.19575	N	0.999965	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.11329	0.001;0.006;0.003	T	0.57533	-0.7795	10	0.15499	T	0.54	.	7.8873	0.29656	0.1815:0.7362:0.0:0.0824	.	3524;2585;3524	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	A	3524;3524;110	ENSP00000262189:V3524A;ENSP00000347325:V3524A;ENSP00000410411:V110A	ENSP00000262189:V3524A	V	-	2	0	MLL3	151491024	0.002000	0.14202	0.345000	0.25642	0.982000	0.71751	1.188000	0.32102	1.270000	0.44297	0.533000	0.62120	GTT	MLL3	-	NULL	ENSG00000055609		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	196	0.00	0	A			151860091	151860091	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	160	22.49	47	SNP	0.069	G
MRC2	9902	genome.wustl.edu	37	17	60749168	60749168	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:60749168C>G	ENST00000303375.5	+	7	1678	c.1276C>G	c.(1276-1278)Ctg>Gtg	p.L426V		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	426	C-type lectin 2. {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						CATGGCGGAGCTGGAATTCAT	0.647																																						dbGAP											0													63.0	55.0	58.0					17																	60749168		2203	4300	6503	-	-	-	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.1276C>G	17.37:g.60749168C>G	ENSP00000307513:p.Leu426Val		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.L426V	ENST00000303375.5	37	c.1276	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884963	0.33255	.	.	ENSG00000011028	ENST00000303375	T	0.19105	2.17	4.78	4.78	0.61160	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.085361	0.49305	D	0.000149	T	0.25121	0.0610	L	0.33093	0.98	0.80722	D	1	P	0.51147	0.942	P	0.55545	0.778	T	0.01940	-1.1243	10	0.13108	T	0.6	-6.1073	12.3007	0.54872	0.0:0.9181:0.0:0.0819	.	426	Q9UBG0	MRC2_HUMAN	V	426	ENSP00000307513:L426V	ENSP00000307513:L426V	L	+	1	2	MRC2	58102900	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.917000	0.56424	2.208000	0.71279	0.561000	0.74099	CTG	MRC2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	ENSG00000011028		0.647	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	22	0.00	0	C			60749168	60749168	+1	no_errors	ENST00000303375	ensembl	human	known	69_37n	missense	6	81.25	26	SNP	1.000	G
MSRB3	253827	genome.wustl.edu	37	12	65720647	65720647	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:65720647C>A	ENST00000355192.3	+	2	265	c.139C>A	c.(139-141)Cag>Aag	p.Q47K	MSRB3_ENST00000308259.5_Missense_Mutation_p.Q40K|MSRB3_ENST00000540804.1_Missense_Mutation_p.Q47K|MSRB3_ENST00000535664.1_Missense_Mutation_p.Q40K	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	47					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GGTCTTTTCCCAGCAGGAACT	0.438																																						dbGAP											0													56.0	56.0	56.0					12																	65720647		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.139C>A	12.37:g.65720647C>A	ENSP00000347324:p.Gln47Lys		B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	pfam_Methionine_sulphoxide_MsrB,superfamily_Mss4-like,tigrfam_Methionine_sulphoxide_MsrB	p.Q47K	ENST00000355192.3	37	c.139	CCDS8973.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.32|10.32	1.319002|1.319002	0.23994|0.23994	.|.	.|.	ENSG00000174099|ENSG00000174099	ENST00000541189|ENST00000355192;ENST00000308259;ENST00000540804;ENST00000535664;ENST00000538045;ENST00000535239	.|T;T;T;T;T;T	.|0.75367	.|-0.93;-0.93;0.06;-0.93;0.03;-0.93	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Mss4-like (1);Methionine sulphoxide reductase B (3);	.|0.295297	.|0.33916	.|N	.|0.004432	T|T	0.45915|0.45915	0.1366|0.1366	N|N	0.00648|0.00648	-1.295|-1.295	0.46167|0.46167	D|D	0.998906|0.998906	.|B;B	.|0.23185	.|0.081;0.007	.|B;B	.|0.22880	.|0.042;0.01	T|T	0.52540|0.52540	-0.8562|-0.8562	5|9	.|.	.|.	.|.	2.2314|2.2314	19.3102|19.3102	0.94184|0.94184	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|47;40	.|Q8IXL7;Q8IXL7-2	.|MSRB3_HUMAN;.	Q|K	55|47;40;47;40;40;40	.|ENSP00000347324:Q47K;ENSP00000312274:Q40K;ENSP00000437623:Q47K;ENSP00000441650:Q40K;ENSP00000442620:Q40K;ENSP00000445843:Q40K	.|.	P|Q	+|+	2|1	0|0	MSRB3|MSRB3	64006914|64006914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.527000|4.527000	0.60573|0.60573	2.567000|2.567000	0.86603|0.86603	0.455000|0.455000	0.32223|0.32223	CCA|CAG	MSRB3	-	superfamily_Mss4-like,tigrfam_Methionine_sulphoxide_MsrB	ENSG00000174099		0.438	MSRB3-001	KNOWN	basic|CCDS	protein_coding	MSRB3	HGNC	protein_coding	OTTHUMT00000401421.1	162	0.61	1	C	NM_198080		65720647	65720647	+1	no_errors	ENST00000355192	ensembl	human	known	69_37n	missense	152	21.24	41	SNP	1.000	A
MT1H	4496	genome.wustl.edu	37	16	56704477	56704477	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:56704477A>G	ENST00000332374.4	+	2	159	c.88A>G	c.(88-90)Aag>Gag	p.K30E	MT1G_ENST00000444837.2_5'Flank|MT1H_ENST00000569155.1_Missense_Mutation_p.K30E|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000568675.1_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	30	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						CACCTCCTGCAAGAAGAGTGA	0.582																																						dbGAP											0													57.0	56.0	56.0					16																	56704477		2198	4298	6496	-	-	-	SO:0001583	missense	0			BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.88A>G	16.37:g.56704477A>G	ENSP00000330587:p.Lys30Glu		B2RUY6	Missense_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.K30E	ENST00000332374.4	37	c.88	CCDS10767.1	16	.	.	.	.	.	.	.	.	.	.	A	12.89	2.074609	0.36566	.	.	ENSG00000205358	ENST00000332374	T	0.14022	2.54	2.12	2.12	0.27331	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.64402	U	0.000001	T	0.30039	0.0752	.	.	.	0.38666	D	0.952198	D	0.62365	0.991	D	0.66602	0.945	T	0.10567	-1.0624	9	0.87932	D	0	-2.2645	7.4215	0.27075	1.0:0.0:0.0:0.0	.	30	P80294	MT1H_HUMAN	E	30	ENSP00000330587:K30E	ENSP00000330587:K30E	K	+	1	0	MT1H	55261978	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	1.771000	0.38542	0.976000	0.38417	0.247000	0.18012	AAG	MT1H	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	ENSG00000205358		0.582	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1H	HGNC	protein_coding	OTTHUMT00000257063.1	191	0.00	0	A	NM_005951		56704477	56704477	+1	no_errors	ENST00000332374	ensembl	human	known	69_37n	missense	66	29.03	27	SNP	1.000	G
MTSS1	9788	genome.wustl.edu	37	8	125601952	125601952	+	Splice_Site	SNP	G	G	T	rs369566167		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:125601952G>T	ENST00000518547.1	-	5	767	c.294C>A	c.(292-294)agC>agA	p.S98R	MTSS1_ENST00000378017.3_Splice_Site_p.S98R|MTSS1_ENST00000325064.5_Splice_Site_p.S98R|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	98	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTAAAGCGCTTTTACCAA	0.403																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	dbGAP											0													141.0	144.0	143.0					8																	125601952		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.294-1C>A	8.37:g.125601952G>T			J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom	p.S98R	ENST00000518547.1	37	c.294	CCDS6353.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.58|12.58	1.980837|1.980837	0.34942|0.34942	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000522162|ENST00000378017;ENST00000518547;ENST00000325064	.|T;T;T	.|0.33216	.|1.44;1.42;1.44	5.91|5.91	-1.35|-1.35	0.09114|0.09114	.|IRSp53/MIM homology domain (IMD) (3);	.|0.359271	.|0.37809	.|N	.|0.001936	T|T	0.41511|0.41511	0.1162|0.1162	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.63880	.|0.993;0.857;0.893	.|P;B;P	.|0.61397	.|0.888;0.359;0.469	T|T	0.15723|0.15723	-1.0427|-1.0427	5|10	.|0.42905	.|T	.|0.14	.|.	10.7121|10.7121	0.45990|0.45990	0.682:0.0:0.318:0.0|0.682:0.0:0.318:0.0	.|.	.|98;98;98	.|A5YM41;O43312;O43312-4	.|.;MTSS1_HUMAN;.	E|R	93|98	.|ENSP00000367256:S98R;ENSP00000429064:S98R;ENSP00000322804:S98R	.|ENSP00000322804:S98R	A|S	-|-	2|3	0|2	MTSS1|MTSS1	125671133|125671133	0.978000|0.978000	0.34361|0.34361	0.983000|0.983000	0.44433|0.44433	0.543000|0.543000	0.35085|0.35085	0.239000|0.239000	0.18023|0.18023	-0.377000|-0.377000	0.07930|0.07930	-1.124000|-1.124000	0.02001|0.02001	GCG|AGC	MTSS1	-	pfam_IRSp53/MIM_homology_IMD	ENSG00000170873		0.403	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3	121	0.00	0	G	NM_014751	Missense_Mutation	125601952	125601952	-1	no_errors	ENST00000518547	ensembl	human	known	69_37n	missense	208	10.68	25	SNP	0.996	T
MUL1	79594	genome.wustl.edu	37	1	20827667	20827667	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:20827667C>A	ENST00000264198.3	-	4	711	c.575G>T	c.(574-576)gGg>gTg	p.G192V		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	192					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GAGGGTGGCCCCCACCTTCAG	0.592																																						dbGAP											0													91.0	90.0	91.0					1																	20827667		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.575G>T	1.37:g.20827667C>A	ENSP00000264198:p.Gly192Val		B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	pfam_GIDE,pfscan_Znf_RING	p.G192V	ENST00000264198.3	37	c.575	CCDS208.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824146	0.90873	.	.	ENSG00000090432	ENST00000264198	T	0.52057	0.68	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73439	-0.3982	10	0.72032	D	0.01	-45.657	18.3537	0.90348	0.0:1.0:0.0:0.0	.	192	Q969V5	MUL1_HUMAN	V	192	ENSP00000264198:G192V	ENSP00000264198:G192V	G	-	2	0	MUL1	20700254	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GGG	MUL1	-	pfam_GIDE	ENSG00000090432		0.592	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUL1	HGNC	protein_coding	OTTHUMT00000007951.1	67	0.00	0	C	NM_024544		20827667	20827667	-1	no_errors	ENST00000264198	ensembl	human	known	69_37n	missense	24	44.19	19	SNP	1.000	A
MUL1	79594	genome.wustl.edu	37	1	20827672	20827672	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:20827672C>A	ENST00000264198.3	-	4	706	c.570G>T	c.(568-570)aaG>aaT	p.K190N		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	190					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TGGCCCCCACCTTCAGCATCT	0.587																																						dbGAP											0													90.0	90.0	90.0					1																	20827672		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.570G>T	1.37:g.20827672C>A	ENSP00000264198:p.Lys190Asn		B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	pfam_GIDE,pfscan_Znf_RING	p.K190N	ENST00000264198.3	37	c.570	CCDS208.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996029	0.74703	.	.	ENSG00000090432	ENST00000264198	T	0.24350	1.86	6.16	5.26	0.73747	.	0.044013	0.85682	D	0.000000	T	0.44414	0.1292	L	0.56769	1.78	0.48395	D	0.999646	D	0.69078	0.997	D	0.63793	0.918	T	0.37731	-0.9693	10	0.56958	D	0.05	-45.6063	13.3353	0.60515	0.0:0.9245:0.0:0.0755	.	190	Q969V5	MUL1_HUMAN	N	190	ENSP00000264198:K190N	ENSP00000264198:K190N	K	-	3	2	MUL1	20700259	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.302000	0.43637	1.628000	0.50416	0.650000	0.86243	AAG	MUL1	-	pfam_GIDE	ENSG00000090432		0.587	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUL1	HGNC	protein_coding	OTTHUMT00000007951.1	69	0.00	0	C	NM_024544		20827672	20827672	-1	no_errors	ENST00000264198	ensembl	human	known	69_37n	missense	26	46.94	23	SNP	1.000	A
MUL1	79594	genome.wustl.edu	37	1	20827674	20827674	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:20827674T>C	ENST00000264198.3	-	4	704	c.568A>G	c.(568-570)Aag>Gag	p.K190E		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	190					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GCCCCCACCTTCAGCATCTCC	0.582																																						dbGAP											0													89.0	89.0	89.0					1																	20827674		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.568A>G	1.37:g.20827674T>C	ENSP00000264198:p.Lys190Glu		B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	pfam_GIDE,pfscan_Znf_RING	p.K190E	ENST00000264198.3	37	c.568	CCDS208.1	1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.576028	0.86645	.	.	ENSG00000090432	ENST00000264198	T	0.23552	1.9	6.17	6.17	0.99709	.	0.044013	0.85682	D	0.000000	T	0.37919	0.1021	L	0.45581	1.43	0.49798	D	0.999829	D	0.56968	0.978	P	0.55615	0.78	T	0.03840	-1.0999	10	0.41790	T	0.15	-45.6063	14.7743	0.69713	0.0:0.0:0.0:1.0	.	190	Q969V5	MUL1_HUMAN	E	190	ENSP00000264198:K190E	ENSP00000264198:K190E	K	-	1	0	MUL1	20700261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.932000	0.63476	2.371000	0.80710	0.533000	0.62120	AAG	MUL1	-	pfam_GIDE	ENSG00000090432		0.582	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUL1	HGNC	protein_coding	OTTHUMT00000007951.1	70	0.00	0	T	NM_024544		20827674	20827674	-1	no_errors	ENST00000264198	ensembl	human	known	69_37n	missense	27	47.06	24	SNP	1.000	C
MXRA5	25878	genome.wustl.edu	37	X	3228969	3228969	+	Silent	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:3228969T>C	ENST00000217939.6	-	7	7429	c.7275A>G	c.(7273-7275)ggA>ggG	p.G2425G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2425	Ig-like C2-type 8.					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)				TCCTATCCTCTCCCGCGCTGT	0.552																																						dbGAP											0													106.0	64.0	78.0					X																	3228969		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.7275A>G	X.37:g.3228969T>C			Q6P1M7|Q9Y3Y8	Silent	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.G2425	ENST00000217939.6	37	c.7275	CCDS14124.1	X																																																																																			MXRA5	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000101825		0.552	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	68	0.00	0	T	NM_015419		3228969	3228969	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	silent	32	38.46	20	SNP	0.958	C
MYBL2	4605	genome.wustl.edu	37	20	42338638	42338639	+	Missense_Mutation	DNP	AC	AC	TA			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr20:42338638_42338639AC>TA	ENST00000217026.4	+	10	1668_1669	c.1541_1542AC>TA	c.(1540-1542)aAC>aTA	p.N514I	MYBL2_ENST00000396863.4_Missense_Mutation_p.N490I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	514					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCATGGACAACACTCCCCACA	0.614																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	Exception_encountered	20.37:g.42338638_42338639delinsTA	ENSP00000217026:p.Asn514Ile		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.N514I|p.N514K	ENST00000217026.4	37	c.1541|c.1542	CCDS13322.1	20																																																																																			MYBL2	-	pfam_C-myb_C	ENSG00000101057		0.614	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL2	HGNC	protein_coding	OTTHUMT00000080408.1	147|146	0.00	0	A|C	NM_002466		42338638|42338639	42338638|42338639	+1	no_errors	ENST00000217026	ensembl	human	known	69_37n	missense	76|75	11.63|14.77	10|13	SNP	1.000	T|A
MYH6	4624	genome.wustl.edu	37	14	23857373	23857373	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:23857373G>C	ENST00000356287.3	-	29	4379	c.4350C>G	c.(4348-4350)aaC>aaG	p.N1450K	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.N1450K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1450					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTTGTCAAAGTTTCTCTGCT	0.587																																						dbGAP											0													118.0	112.0	114.0					14																	23857373		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4350C>G	14.37:g.23857373G>C	ENSP00000348634:p.Asn1450Lys		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N1450K	ENST00000356287.3	37	c.4350	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	g	17.08	3.298449	0.60195	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80738	-1.41;-1.41	4.64	2.8	0.32819	Myosin tail (1);	.	.	.	.	T	0.81749	0.4888	M	0.72353	2.195	0.48452	D	0.999659	P	0.39131	0.661	P	0.46389	0.515	T	0.79569	-0.1749	9	0.62326	D	0.03	.	8.4573	0.32906	0.2409:0.0:0.7591:0.0	.	1450	P13533	MYH6_HUMAN	K	1450	ENSP00000386041:N1450K;ENSP00000348634:N1450K	ENSP00000348634:N1450K	N	-	3	2	MYH6	22927213	1.000000	0.71417	0.996000	0.52242	0.894000	0.52154	2.700000	0.47085	0.501000	0.28013	0.561000	0.74099	AAC	MYH6	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000197616		0.587	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	117	0.00	0	G			23857373	23857373	-1	no_errors	ENST00000356287	ensembl	human	known	69_37n	missense	45	30.77	20	SNP	1.000	C
MYO16	23026	genome.wustl.edu	37	13	109617177	109617177	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr13:109617177C>A	ENST00000357550.2	+	19	2271	c.2230C>A	c.(2230-2232)Ctg>Atg	p.L744M	MYO16_ENST00000356711.2_Missense_Mutation_p.L744M|MYO16_ENST00000457511.2_Missense_Mutation_p.L256M|MYO16_ENST00000251041.5_Missense_Mutation_p.L744M	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)			GGCCAAGTCCCTGTACAGTCG	0.428																																						dbGAP											0													237.0	210.0	219.0					13																	109617177		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.2230C>A	13.37:g.109617177C>A	ENSP00000350160:p.Leu744Met			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.L744M	ENST00000357550.2	37	c.2230	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176741	0.38413	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	5.21	-0.905	0.10527	Myosin head, motor domain (2);	0.313998	0.17589	U	0.168853	D	0.94598	0.8259	M	0.75615	2.305	0.35067	D	0.762096	B;B;P	0.44309	0.422;0.443;0.832	B;B;B	0.41236	0.319;0.221;0.351	D	0.91075	0.4895	9	.	.	.	.	5.0518	0.14513	0.238:0.4566:0.0:0.3054	.	256;744;744	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	M	744;744;744;744;532;256	ENSP00000349145:L744M;ENSP00000350160:L744M;ENSP00000251041:L744M;ENSP00000401633:L256M	.	L	+	1	2	MYO16	108415178	0.052000	0.20516	0.990000	0.47175	0.974000	0.67602	0.149000	0.16243	-0.097000	0.12307	-0.218000	0.12543	CTG	MYO16	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000041515		0.428	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	402	0.00	0	C	NM_015011		109617177	109617177	+1	no_errors	ENST00000356711	ensembl	human	known	69_37n	missense	508	17.26	106	SNP	0.294	A
MYO5C	55930	genome.wustl.edu	37	15	52497266	52497266	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr15:52497266C>T	ENST00000261839.7	-	38	4777	c.4616G>A	c.(4615-4617)aGc>aAc	p.S1539N	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1539	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.					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)		GTCGTCTATGCTAGAGGAGCG	0.602																																						dbGAP											0													74.0	81.0	78.0					15																	52497266		2017	4162	6179	-	-	-	SO:0001583	missense	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.4616G>A	15.37:g.52497266C>T	ENSP00000261839:p.Ser1539Asn		Q6P1W8	Missense_Mutation	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.S1539N	ENST00000261839.7	37	c.4616	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773990	0.90108	.	.	ENSG00000128833	ENST00000261839	D	0.89617	-2.54	4.66	4.66	0.58398	Dilute (1);	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	M	0.69463	2.115	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.93693	0.7009	10	0.56958	D	0.05	.	18.0881	0.89464	0.0:1.0:0.0:0.0	.	1539	Q9NQX4	MYO5C_HUMAN	N	1539	ENSP00000261839:S1539N	ENSP00000261839:S1539N	S	-	2	0	MYO5C	50284558	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.609000	0.82925	2.583000	0.87209	0.462000	0.41574	AGC	MYO5C	-	pfscan_Dilute	ENSG00000128833		0.602	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	62	0.00	0	C	NM_018728		52497266	52497266	-1	no_errors	ENST00000261839	ensembl	human	known	69_37n	missense	48	18.64	11	SNP	1.000	T
MYO7A	4647	genome.wustl.edu	37	11	76910582	76910582	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:76910582A>G	ENST00000409709.3	+	35	4843	c.4571A>G	c.(4570-4572)gAg>gGg	p.E1524G	MYO7A_ENST00000458637.2_Intron|MYO7A_ENST00000409619.2_Intron	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1524	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCTTCAGGGAGTGCCGTGTC	0.627																																						dbGAP											0													10.0	10.0	10.0					11																	76910582		692	1590	2282	-	-	-	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4571A>G	11.37:g.76910582A>G	ENSP00000386331:p.Glu1524Gly		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.E1524G	ENST00000409709.3	37	c.4571	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	A	12.07	1.828022	0.32329	.	.	ENSG00000137474	ENST00000409709;ENST00000358342;ENST00000343356;ENST00000341717	D	0.92545	-3.06	4.1	4.1	0.47936	FERM domain (1);	1.066800	0.07343	N	0.881066	D	0.92267	0.7547	L	0.32530	0.975	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	D	0.84916	0.0851	10	0.15066	T	0.55	.	9.771	0.40589	1.0:0.0:0.0:0.0	.	1524	Q13402	MYO7A_HUMAN	G	1524;1523;1493;1400	ENSP00000386331:E1524G	ENSP00000345075:E1400G	E	+	2	0	MYO7A	76588230	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.876000	0.39588	2.079000	0.62486	0.533000	0.62120	GAG	MYO7A	-	pfscan_FERM_domain	ENSG00000137474		0.627	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	30	0.00	0	A	NM_000260		76910582	76910582	+1	no_errors	ENST00000409709	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	1.000	G
MYO7A	4647	genome.wustl.edu	37	11	76910588	76910588	+	Missense_Mutation	SNP	G	G	A	rs397516311	byFrequency	TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:76910588G>A	ENST00000409709.3	+	35	4849	c.4577G>A	c.(4576-4578)cGt>cAt	p.R1526H	MYO7A_ENST00000458637.2_Intron|MYO7A_ENST00000409619.2_Intron	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1526	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGGAGTGCCGTGTCTGGCTC	0.622													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18670	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													12.0	11.0	12.0					11																	76910588		692	1591	2283	-	-	-	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4577G>A	11.37:g.76910588G>A	ENSP00000386331:p.Arg1526His		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.R1526H	ENST00000409709.3	37	c.4577	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476100	0.44044	.	.	ENSG00000137474	ENST00000409709;ENST00000358342;ENST00000343356;ENST00000341717	D	0.90444	-2.67	4.1	3.19	0.36642	FERM domain (1);	0.544924	0.16304	N	0.220303	T	0.77184	0.4093	N	0.03608	-0.345	0.80722	D	1	B	0.14438	0.01	B	0.04013	0.001	T	0.72795	-0.4185	10	0.66056	D	0.02	.	7.897	0.29712	0.1121:0.0:0.8879:0.0	.	1526	Q13402	MYO7A_HUMAN	H	1526;1525;1495;1402	ENSP00000386331:R1526H	ENSP00000345075:R1402H	R	+	2	0	MYO7A	76588236	0.996000	0.38824	0.985000	0.45067	0.949000	0.60115	2.802000	0.47916	1.311000	0.45024	0.655000	0.94253	CGT	MYO7A	-	pfscan_FERM_domain	ENSG00000137474		0.622	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	33	0.00	0	G	NM_000260		76910588	76910588	+1	no_errors	ENST00000409709	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.986	A
NAGLU	4669	genome.wustl.edu	37	17	40695472	40695472	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:40695472A>G	ENST00000225927.2	+	6	1549	c.1448A>G	c.(1447-1449)tAt>tGt	p.Y483C	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	483					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GCCCGGCGGTATGGGGTCTCC	0.652																																						dbGAP											0													19.0	18.0	18.0					17																	40695472		2199	4297	6496	-	-	-	SO:0001583	missense	0				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1448A>G	17.37:g.40695472A>G	ENSP00000225927:p.Tyr483Cys			Missense_Mutation	SNP	pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF	p.Y483C	ENST00000225927.2	37	c.1448	CCDS11427.1	17	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534445	0.45073	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.99405	-5.84	4.43	4.43	0.53597	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97875	1.0288	10	0.87932	D	0	-12.6482	12.9551	0.58424	1.0:0.0:0.0:0.0	.	483	P54802	ANAG_HUMAN	C	483;159	ENSP00000225927:Y483C	ENSP00000225927:Y483C	Y	+	2	0	NAGLU	37948998	1.000000	0.71417	0.781000	0.31783	0.142000	0.21351	8.823000	0.92018	1.999000	0.58509	0.260000	0.18958	TAT	NAGLU	-	pfam_NAGLU_tim-barrel	ENSG00000108784		0.652	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGLU	HGNC	protein_coding	OTTHUMT00000450385.1	25	0.00	0	A	NM_000263		40695472	40695472	+1	no_errors	ENST00000225927	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	G
NCALD	83988	genome.wustl.edu	37	8	102701354	102701354	+	3'UTR	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:102701354G>A	ENST00000311028.3	-	0	1143				NCALD_ENST00000519508.2_3'UTR|NCALD_ENST00000395923.1_3'UTR|NCALD_ENST00000521599.1_3'UTR|KB-1107E3.1_ENST00000518749.1_RNA|NCALD_ENST00000220931.6_3'UTR|NCALD_ENST00000522951.1_Missense_Mutation_p.P173L	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta						calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTGGGGCTCTGGGCATTCCCA	0.458																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.*183C>T	8.37:g.102701354G>A			P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.P173L	ENST00000311028.3	37	c.518	CCDS6292.1	8	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288835	0.40494	.	.	ENSG00000104490	ENST00000522951	T	0.70631	-0.5	5.75	1.65	0.23941	.	.	.	.	.	T	0.68550	0.3013	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67929	-0.5543	6	0.87932	D	0	.	2.4963	0.04622	0.184:0.3169:0.3845:0.1145	.	.	.	.	L	173	ENSP00000428781:P173L	ENSP00000428781:P173L	P	-	2	0	NCALD	102770530	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	1.698000	0.37794	0.843000	0.35070	0.655000	0.94253	CCA	NCALD	-	NULL	ENSG00000104490		0.458	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NCALD	HGNC	protein_coding	OTTHUMT00000380732.2	13	0.00	0	G			102701354	102701354	-1	no_errors	ENST00000522951	ensembl	human	putative	69_37n	missense	14	30.00	6	SNP	0.998	A
NEK10	152110	genome.wustl.edu	37	3	27233594	27233594	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:27233594G>C	ENST00000429845.2	-	27	2793	c.2431C>G	c.(2431-2433)Cgc>Ggc	p.R811G	NEK10_ENST00000357467.2_Missense_Mutation_p.R208G|NEK10_ENST00000295720.6_Missense_Mutation_p.R123G|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383770.3_Missense_Mutation_p.R123G|NEK10_ENST00000383771.4_Missense_Mutation_p.R123G			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	811					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTTGTGTGCGTCTTCGTTCC	0.418																																						dbGAP											0													290.0	247.0	261.0					3																	27233594		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2431C>G	3.37:g.27233594G>C	ENSP00000395849:p.Arg811Gly		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.R123G	ENST00000429845.2	37	c.367		3	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856836	0.71834	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	T;T;T;T	0.49432	0.78;0.78;0.78;1.1	5.91	5.91	0.95273	.	.	.	.	.	T	0.71324	0.3326	.	.	.	0.30984	N	0.722143	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.77004	0.989;0.989;0.919	T	0.71876	-0.4460	8	0.72032	D	0.01	.	19.8936	0.96942	0.0:0.0:1.0:0.0	.	123;123;208	Q6ZWH5-5;Q6ZWH5-7;Q8N774	.;.;.	G	123;123;123;208	ENSP00000295720:R123G;ENSP00000373281:R123G;ENSP00000373280:R123G;ENSP00000350059:R208G	ENSP00000295720:R123G	R	-	1	0	NEK10	27208598	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	3.440000	0.52886	2.793000	0.96121	0.655000	0.94253	CGC	NEK10	-	superfamily_Kinase-like_dom	ENSG00000163491		0.418	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	475	0.21	1	G	NM_152534		27233594	27233594	-1	no_errors	ENST00000383771	ensembl	human	known	69_37n	missense	495	36.98	291	SNP	1.000	C
NEK6	10783	genome.wustl.edu	37	9	127054804	127054804	+	Intron	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:127054804C>T	ENST00000320246.5	+	2	116				NEK6_ENST00000394199.2_Intron|NEK6_ENST00000545174.1_Intron|NEK6_ENST00000540326.1_Intron|NEK6_ENST00000539416.1_Missense_Mutation_p.S11L|NEK6_ENST00000546191.1_Intron|NEK6_ENST00000373600.3_Intron|NEK6_ENST00000373603.1_Intron	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6						apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						TCTAGATGCTCGCCTGGGACC	0.572																																					NSCLC(122;934 1785 18647 44295 45571)	dbGAP											0													66.0	67.0	67.0					9																	127054804		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.-29-9411C>T	9.37:g.127054804C>T			B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	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.S11L	ENST00000320246.5	37	c.32	CCDS6854.1	9	.	.	.	.	.	.	.	.	.	.	C	6.075	0.382090	0.11524	.	.	ENSG00000119408	ENST00000539416	T	0.71222	-0.55	3.45	-0.905	0.10527	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.46512	-0.9186	6	0.30078	T	0.28	.	5.0801	0.14651	0.5281:0.3653:0.0:0.1067	.	.	.	.	L	11	ENSP00000439651:S11L	ENSP00000439651:S11L	S	+	2	0	NEK6	126094625	0.001000	0.12720	0.002000	0.10522	0.017000	0.09413	0.262000	0.18460	-0.157000	0.11059	-0.164000	0.13417	TCG	NEK6	-	NULL	ENSG00000119408		0.572	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1	117	0.00	0	C	NM_014397		127054804	127054804	+1	no_errors	ENST00000539416	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.003	T
NFE2L1	4779	genome.wustl.edu	37	17	46136577	46136577	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:46136577C>T	ENST00000362042.3	+	6	2509	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	NFE2L1_ENST00000585291.1_Silent_p.I601I|NFE2L1_ENST00000582155.1_Silent_p.I443I|NFE2L1_ENST00000583378.1_Silent_p.I432I|NFE2L1_ENST00000357480.5_Silent_p.I601I|NFE2L1_ENST00000536222.1_Silent_p.I475I|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000361665.3_Silent_p.I620I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	631					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAAAATCATCAACCTGCCTG	0.552																																						dbGAP											0													51.0	45.0	47.0					17																	46136577		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1893C>T	17.37:g.46136577C>T			D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.I631	ENST00000362042.3	37	c.1893	CCDS11524.1	17																																																																																			NFE2L1	-	superfamily_Euk_TF_DNA-bd	ENSG00000082641		0.552	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	29	0.00	0	C	NM_003204		46136577	46136577	+1	no_errors	ENST00000362042	ensembl	human	known	69_37n	silent	72	94.09	1385	SNP	1.000	T
NFE2L1	4779	genome.wustl.edu	37	17	46136612	46136612	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:46136612C>T	ENST00000362042.3	+	6	2544	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	NFE2L1_ENST00000585291.1_Missense_Mutation_p.S613F|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S455F|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S444F|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S613F|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S487F|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S632F	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	643					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAACTGCTGTCCAAATACCAG	0.567																																						dbGAP											0													52.0	47.0	49.0					17																	46136612		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1928C>T	17.37:g.46136612C>T	ENSP00000354855:p.Ser643Phe		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S643F	ENST00000362042.3	37	c.1928	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268732	0.59540	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.09723	2.95;2.95	5.89	5.89	0.94794	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.105696	0.64402	D	0.000004	T	0.25754	0.0627	L	0.46819	1.47	0.58432	D	0.999997	D;P;P;P	0.58970	0.984;0.938;0.937;0.93	P;P;P;P	0.59056	0.851;0.548;0.735;0.723	T	0.00038	-1.2245	10	0.87932	D	0	-17.2546	19.0276	0.92939	0.0:1.0:0.0:0.0	.	487;455;613;643	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	F	662;643;613;487	ENSP00000350072:S613F;ENSP00000445811:S487F	ENSP00000350072:S613F	S	+	2	0	NFE2L1	43491611	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	5.954000	0.70298	2.797000	0.96272	0.563000	0.77884	TCC	NFE2L1	-	superfamily_Euk_TF_DNA-bd	ENSG00000082641		0.567	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	30	0.00	0	C	NM_003204		46136612	46136612	+1	no_errors	ENST00000362042	ensembl	human	known	69_37n	missense	56	95.72	1297	SNP	1.000	T
NFE2L1	4779	genome.wustl.edu	37	17	46136893	46136893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:46136893C>T	ENST00000362042.3	+	6	2825	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	NFE2L1_ENST00000585291.1_Nonsense_Mutation_p.Q707*|NFE2L1_ENST00000582155.1_Nonsense_Mutation_p.Q549*|NFE2L1_ENST00000583378.1_Nonsense_Mutation_p.Q538*|NFE2L1_ENST00000357480.5_Nonsense_Mutation_p.Q707*|NFE2L1_ENST00000536222.1_Nonsense_Mutation_p.Q581*|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000361665.3_Nonsense_Mutation_p.Q726*	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	737					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCGCCCAGTCAGTATGCGCT	0.657																																						dbGAP											0													72.0	75.0	74.0					17																	46136893		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.2209C>T	17.37:g.46136893C>T	ENSP00000354855:p.Gln737*		D3DTU3|D3DTU5|Q12877|Q96FN6	Nonsense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.Q737*	ENST00000362042.3	37	c.2209	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.385913	0.97524	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	.	.	.	5.89	5.89	0.94794	.	0.300378	0.38663	N	0.001606	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-13.6504	19.0276	0.92939	0.0:1.0:0.0:0.0	.	.	.	.	X	756;737;707;581	.	ENSP00000350072:Q707X	Q	+	1	0	NFE2L1	43491892	0.998000	0.40836	0.993000	0.49108	0.819000	0.46315	3.235000	0.51328	2.797000	0.96272	0.563000	0.77884	CAG	NFE2L1	-	NULL	ENSG00000082641		0.657	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	83	0.00	0	C	NM_003204		46136893	46136893	+1	no_errors	ENST00000362042	ensembl	human	known	69_37n	nonsense	93	92.91	1219	SNP	0.979	T
NFE2L1	4779	genome.wustl.edu	37	17	46136904	46136904	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:46136904C>T	ENST00000362042.3	+	6	2836	c.2220C>T	c.(2218-2220)ctC>ctT	p.L740L	NFE2L1_ENST00000585291.1_Silent_p.L710L|NFE2L1_ENST00000582155.1_Silent_p.L552L|NFE2L1_ENST00000583378.1_Silent_p.L541L|NFE2L1_ENST00000357480.5_Silent_p.L710L|NFE2L1_ENST00000536222.1_Silent_p.L584L|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000361665.3_Silent_p.L729L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	740					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTATGCGCTCCAGTACGCCG	0.637																																						dbGAP											0													67.0	70.0	69.0					17																	46136904		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.2220C>T	17.37:g.46136904C>T			D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L740	ENST00000362042.3	37	c.2220	CCDS11524.1	17																																																																																			NFE2L1	-	NULL	ENSG00000082641		0.637	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	74	0.00	0	C	NM_003204		46136904	46136904	+1	no_errors	ENST00000362042	ensembl	human	known	69_37n	silent	84	91.57	912	SNP	0.240	T
NFKB1	4790	genome.wustl.edu	37	4	103534623	103534623	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:103534623delA	ENST00000505458.1	+	23	2908	c.2631delA	c.(2629-2631)agafs	p.R877fs	NFKB1_ENST00000226574.4_Frame_Shift_Del_p.R878fs|NFKB1_ENST00000394820.4_Frame_Shift_Del_p.R877fs|NFKB1_ENST00000600343.1_Frame_Shift_Del_p.R697fs			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	877	Death.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	AGGCCCTGAGACAAATGGGCT	0.577																																						dbGAP											0													73.0	62.0	66.0					4																	103534623		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2631delA	4.37:g.103534623delA	ENSP00000424790:p.Arg877fs		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Frame_Shift_Del	DEL	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,prints_NF_Rel_dor,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD	p.R878fs	ENST00000505458.1	37	c.2634	CCDS54783.1	4																																																																																			NFKB1	-	pfam_Death,superfamily_DEATH-like,smart_Death	ENSG00000109320		0.577	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	57	0.00	0	A			103534623	103534623	+1	no_errors	ENST00000226574	ensembl	human	known	69_37n	frame_shift_del	47	37.66	29	DEL	0.759	-
NHLH1	4807	genome.wustl.edu	37	1	160340790	160340790	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:160340790C>T	ENST00000302101.5	+	2	715	c.269C>T	c.(268-270)gCc>gTc	p.A90V		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	90	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGCGTGGAAGCCTTCAACCTG	0.672																																						dbGAP											0													42.0	44.0	44.0					1																	160340790		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"""Basic helix-loop-helix proteins"""	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	ENST00000302101.5:c.269C>T	1.37:g.160340790C>T	ENSP00000302189:p.Ala90Val			Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.A90V	ENST00000302101.5	37	c.269	CCDS1204.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775324	0.90108	.	.	ENSG00000171786	ENST00000302101	D	0.97941	-4.62	4.19	4.19	0.49359	Helix-loop-helix DNA-binding (5);	0.000000	0.53938	D	0.000042	D	0.91891	0.7433	N	0.05259	-0.085	0.58432	D	0.999999	B	0.28233	0.204	B	0.37451	0.25	D	0.91094	0.4909	10	0.52906	T	0.07	-20.8045	15.6211	0.76808	0.0:1.0:0.0:0.0	.	90	Q02575	HEN1_HUMAN	V	90	ENSP00000302189:A90V	ENSP00000302189:A90V	A	+	2	0	NHLH1	158607414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.656000	0.61483	2.327000	0.79052	0.655000	0.94253	GCC	NHLH1	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000171786		0.672	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLH1	HGNC	protein_coding	OTTHUMT00000080676.1	60	0.00	0	C	NM_005598		160340790	160340790	+1	no_errors	ENST00000302101	ensembl	human	known	69_37n	missense	97	24.22	31	SNP	1.000	T
NHSL1	57224	genome.wustl.edu	37	6	138751578	138751578	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:138751578C>A	ENST00000427025.2	-	5	4544	c.3916G>T	c.(3916-3918)Gat>Tat	p.D1306Y	NHSL1_ENST00000343505.5_Missense_Mutation_p.D1302Y	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	1306										breast(2)|endometrium(4)|kidney(1)	7						CCCCCAGTATCCGCACTGTTC	0.602																																						dbGAP											0													16.0	20.0	19.0					6																	138751578		692	1590	2282	-	-	-	SO:0001583	missense	0			AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.3916G>T	6.37:g.138751578C>A	ENSP00000394546:p.Asp1306Tyr		Q3ZCS5|Q5SYE8|Q9P2J0	Missense_Mutation	SNP	NULL	p.D1306Y	ENST00000427025.2	37	c.3916	CCDS55063.1	6	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999005	0.54147	.	.	ENSG00000135540	ENST00000427025;ENST00000343505	T;T	0.40756	1.02;1.51	4.48	3.59	0.41128	.	0.305475	0.30277	N	0.009994	T	0.46367	0.1389	L	0.59436	1.845	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.992	T	0.21075	-1.0256	10	0.72032	D	0.01	-4.4525	11.1072	0.48210	0.0:0.9104:0.0:0.0896	.	1302;1306	E2QRJ1;Q5SYE7	.;NHSL1_HUMAN	Y	1306;1302	ENSP00000394546:D1306Y;ENSP00000344672:D1302Y	ENSP00000344672:D1302Y	D	-	1	0	NHSL1	138793271	0.752000	0.28338	0.007000	0.13788	0.050000	0.14768	2.797000	0.47877	2.036000	0.60181	0.555000	0.69702	GAT	NHSL1	-	NULL	ENSG00000135540		0.602	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NHSL1	HGNC	protein_coding	OTTHUMT00000043700.2	33	0.00	0	C	XM_050421		138751578	138751578	-1	no_errors	ENST00000427025	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.065	A
NISCH	11188	genome.wustl.edu	37	3	52492789	52492789	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:52492789C>A	ENST00000479054.1	+	4	361	c.289C>A	c.(289-291)Cag>Aag	p.Q97K	NISCH_ENST00000420808.2_Missense_Mutation_p.Q97K|NISCH_ENST00000345716.4_Missense_Mutation_p.Q97K|NISCH_ENST00000488380.1_Missense_Mutation_p.Q97K			Q9Y2I1	NISCH_HUMAN	nischarin	97	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GGTCTACCTCCAGAAGCTCCT	0.483																																						dbGAP											0													101.0	101.0	101.0					3																	52492789		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.289C>A	3.37:g.52492789C>A	ENSP00000418232:p.Gln97Lys		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.Q97K	ENST00000479054.1	37	c.289	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639038	0.87760	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000488380;ENST00000420808	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.7	5.7	0.88788	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.62612	0.2442	L	0.53729	1.69	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.989;0.995	T	0.61227	-0.7105	10	0.56958	D	0.05	-25.4264	19.8246	0.96612	0.0:1.0:0.0:0.0	.	97;97	Q9Y2I1;C9J715	NISCH_HUMAN;.	K	97	ENSP00000418232:Q97K;ENSP00000339958:Q97K;ENSP00000417812:Q97K;ENSP00000392484:Q97K	ENSP00000339958:Q97K	Q	+	1	0	NISCH	52467829	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	6.841000	0.75374	2.706000	0.92434	0.655000	0.94253	CAG	NISCH	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000010322		0.483	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	178	0.00	0	C	NM_007184		52492789	52492789	+1	no_errors	ENST00000345716	ensembl	human	known	69_37n	missense	97	16.38	19	SNP	1.000	A
NLRP8	126205	genome.wustl.edu	37	19	56473437	56473437	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:56473437C>A	ENST00000291971.3	+	4	2118	c.2047C>A	c.(2047-2049)Cca>Aca	p.P683T	NLRP8_ENST00000590542.1_Missense_Mutation_p.P683T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	683					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATGTAGAGCGCCAGAGAGCAA	0.488																																						dbGAP											0													172.0	151.0	158.0					19																	56473437		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2047C>A	19.37:g.56473437C>A	ENSP00000291971:p.Pro683Thr		Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P683T	ENST00000291971.3	37	c.2047	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.672295	0.00758	.	.	ENSG00000179709	ENST00000291971	D	0.88975	-2.45	1.94	0.842	0.18927	.	.	.	.	.	T	0.81384	0.4811	L	0.38838	1.175	0.09310	N	1	B;B	0.27140	0.012;0.169	B;B	0.33620	0.002;0.167	T	0.65026	-0.6268	9	0.13108	T	0.6	.	6.1785	0.20457	0.0:0.4877:0.5123:0.0	.	683;683	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	683	ENSP00000291971:P683T	ENSP00000291971:P683T	P	+	1	0	NLRP8	61165249	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.452000	0.06787	0.365000	0.24400	0.514000	0.50259	CCA	NLRP8	-	NULL	ENSG00000179709		0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	185	0.00	0	C	NM_176811		56473437	56473437	+1	no_errors	ENST00000291971	ensembl	human	known	69_37n	missense	331	13.58	52	SNP	0.000	A
NOP14	8602	genome.wustl.edu	37	4	2945884	2945885	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:2945884_2945885insT	ENST00000314262.6	-	13	1854_1855	c.1806_1807insA	c.(1804-1809)gtggctfs	p.A603fs	NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000398071.4_Frame_Shift_Ins_p.A603fs|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000502735.1_Frame_Shift_Ins_p.A603fs|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_Frame_Shift_Ins_p.A603fs|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000507120.1_5'Flank|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	603					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						TGGGACAAAGCCACATACTCCA	0.485																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.1806_1807insA	4.37:g.2945884_2945885insT	ENSP00000315674:p.Ala603fs		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Frame_Shift_Ins	INS	pfam_Nop14	p.A602fs	ENST00000314262.6	37	c.1807_1806	CCDS33945.1	4																																																																																			NOP14	-	pfam_Nop14	ENSG00000087269		0.485	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	176	0.00	0	-	NM_003703		2945884	2945885	-1	no_errors	ENST00000416614	ensembl	human	known	69_37n	frame_shift_ins	215	12.24	30	INS	1.000:1.000	T
NOP14	8602	genome.wustl.edu	37	4	2945886	2945887	+	In_Frame_Ins	INS	-	-	GGC			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:2945886_2945887insGGC	ENST00000314262.6	-	13	1852_1853	c.1804_1805insGCC	c.(1804-1806)gtg>gGCCtg	p.602_602V>GL	NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000398071.4_In_Frame_Ins_p.602_602V>GL|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000502735.1_In_Frame_Ins_p.602_602V>GL|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_In_Frame_Ins_p.602_602V>GL|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000507120.1_5'Flank|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	602					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						GGACAAAGCCACATACTCCAGG	0.485																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	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.1804_1805insGCC	4.37:g.2945886_2945887insGGC	ENSP00000315674:p.Val602delinsGlyLeu		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	In_Frame_Ins	INS	pfam_Nop14	p.V602in_frame_insGL	ENST00000314262.6	37	c.1805_1804	CCDS33945.1	4																																																																																			NOP14	-	pfam_Nop14	ENSG00000087269		0.485	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	178	0.00	0	-	NM_003703		2945886	2945887	-1	no_errors	ENST00000416614	ensembl	human	known	69_37n	in_frame_ins	199	13.10	30	INS	1.000:1.000	GGC
NOP14	8602	genome.wustl.edu	37	4	2945891	2945891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:2945891delC	ENST00000314262.6	-	13	1848	c.1800delG	c.(1798-1800)gagfs	p.E600fs	NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000398071.4_Frame_Shift_Del_p.E600fs|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000502735.1_Frame_Shift_Del_p.E600fs|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_Frame_Shift_Del_p.E600fs|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000507120.1_5'Flank|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	600					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						AAGCCACATACTCCAGGAACA	0.498																																						dbGAP											0													85.0	78.0	80.0					4																	2945891		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	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.1800delG	4.37:g.2945891delC	ENSP00000315674:p.Glu600fs		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Frame_Shift_Del	DEL	pfam_Nop14	p.E600fs	ENST00000314262.6	37	c.1800	CCDS33945.1	4																																																																																			NOP14	-	pfam_Nop14	ENSG00000087269		0.498	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	179	0.00	0	C	NM_003703		2945891	2945891	-1	no_errors	ENST00000416614	ensembl	human	known	69_37n	frame_shift_del	194	13.39	30	DEL	0.977	-
NOS1	4842	genome.wustl.edu	37	12	117681129	117681129	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:117681129C>G	ENST00000338101.4	-	19	3041	c.3037G>C	c.(3037-3039)Gtg>Ctg	p.V1013L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.V979L			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCTTCGGCCACAAAGGTGAGG	0.517																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											0													225.0	214.0	218.0					12																	117681129		2021	4181	6202	-	-	-	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3037G>C	12.37:g.117681129C>G	ENSP00000337459:p.Val1013Leu			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.V979L	ENST00000338101.4	37	c.2935	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618808	0.28801	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.31510	1.49;1.49	3.59	2.69	0.31865	Riboflavin synthase-like beta-barrel (1);	0.255004	0.39985	N	0.001206	T	0.20129	0.0484	L	0.28192	0.835	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.04885	-1.0920	10	0.28530	T	0.3	-15.2077	10.8316	0.46663	0.0:0.9055:0.0:0.0945	.	979	P29475	NOS1_HUMAN	L	874;979;979;1013	ENSP00000320758:V979L;ENSP00000337459:V1013L	ENSP00000320758:V979L	V	-	1	0	NOS1	116165512	0.963000	0.33076	0.979000	0.43373	0.932000	0.56968	2.052000	0.41316	0.847000	0.35167	0.305000	0.20034	GTG	NOS1	-	superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met	ENSG00000089250		0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	398	0.00	0	C			117681129	117681129	-1	no_errors	ENST00000317775	ensembl	human	known	69_37n	missense	1058	27.02	392	SNP	1.000	G
NPFFR2	10886	genome.wustl.edu	37	4	73012701	73012701	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:73012701G>C	ENST00000308744.6	+	4	839	c.741G>C	c.(739-741)caG>caC	p.Q247H	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.Q148H|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.Q145H	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	247					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCAGGTTCCAGTGTGTGGTCT	0.403																																						dbGAP											0													174.0	176.0	176.0					4																	73012701		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.741G>C	4.37:g.73012701G>C	ENSP00000307822:p.Gln247His		Q96RV1|Q9NR49	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.Q247H	ENST00000308744.6	37	c.741	CCDS3551.1	4	.	.	.	.	.	.	.	.	.	.	G	4.980	0.182083	0.09495	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.37058	1.22;1.22;1.22	5.81	-2.29	0.06805	GPCR, rhodopsin-like superfamily (1);	0.259551	0.27876	N	0.017484	T	0.18173	0.0436	L	0.41415	1.275	0.09310	N	0.999999	B;P	0.37997	0.04;0.614	B;B	0.35413	0.035;0.202	T	0.19031	-1.0318	10	0.18276	T	0.48	.	2.257	0.04058	0.3391:0.2994:0.2607:0.1008	.	148;247	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	H	247;148;145	ENSP00000307822:Q247H;ENSP00000379321:Q148H;ENSP00000351599:Q145H	ENSP00000307822:Q247H	Q	+	3	2	NPFFR2	73231565	0.004000	0.15560	0.953000	0.39169	0.124000	0.20399	-1.065000	0.03458	-0.398000	0.07679	-0.142000	0.14014	CAG	NPFFR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NPFF_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000056291		0.403	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NPFFR2	HGNC	protein_coding	OTTHUMT00000252170.2	212	0.00	0	G	NM_004885		73012701	73012701	+1	no_errors	ENST00000308744	ensembl	human	known	69_37n	missense	225	18.18	50	SNP	0.573	C
NRG1	3084	genome.wustl.edu	37	8	32621347	32621347	+	Silent	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:32621347G>T	ENST00000405005.3	+	12	1350	c.1350G>T	c.(1348-1350)tcG>tcT	p.S450S	NRG1_ENST00000287845.5_Silent_p.S421S|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000338921.4_Silent_p.S458S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Silent_p.S455S|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000539990.1_Silent_p.S293S|NRG1_ENST00000287842.3_Silent_p.S447S|NRG1_ENST00000519301.1_Silent_p.S400S			Q02297	NRG1_HUMAN	neuregulin 1	450					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S455S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGCCCCCTTCGGAAATGTCTC	0.562																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											107.0	104.0	105.0					8																	32621347		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1350G>T	8.37:g.32621347G>T			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EGF-like,pfscan_EG-like_dom,pfscan_Ig-like,prints_Neuregulin	p.S458	ENST00000405005.3	37	c.1374	CCDS6085.1	8																																																																																			NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.562	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	112	0.00	0	G			32621347	32621347	+1	no_errors	ENST00000338921	ensembl	human	known	69_37n	silent	109	17.42	23	SNP	0.985	T
NRP1	8829	genome.wustl.edu	37	10	33475378	33475378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:33475378G>A	ENST00000265371.4	-	15	2626	c.2101C>T	c.(2101-2103)Cag>Tag	p.Q701*	NRP1_ENST00000395995.1_Nonsense_Mutation_p.Q701*|NRP1_ENST00000374875.1_Nonsense_Mutation_p.Q513*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.Q701*			O14786	NRP1_HUMAN	neuropilin 1	701	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGCCCTTCTGATTTTCGTCA	0.507																																					Melanoma(104;886 1489 44640 45944 51153)	dbGAP											0													81.0	73.0	75.0					10																	33475378		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2101C>T	10.37:g.33475378G>A	ENSP00000265371:p.Gln701*		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Nonsense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.Q701*	ENST00000265371.4	37	c.2101	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.894805	0.98548	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995	.	.	.	5.91	5.91	0.95273	.	0.048165	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-21.9742	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	701;513;701;701	.	ENSP00000265371:Q701X	Q	-	1	0	NRP1	33515384	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.568000	0.82369	2.793000	0.96121	0.655000	0.94253	CAG	NRP1	-	pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom	ENSG00000099250		0.507	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	128	0.00	0	G			33475378	33475378	-1	no_errors	ENST00000265371	ensembl	human	known	69_37n	nonsense	79	50.62	82	SNP	1.000	A
NTRK1	4914	genome.wustl.edu	37	1	156843468	156843468	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:156843468C>G	ENST00000524377.1	+	8	935	c.894C>G	c.(892-894)caC>caG	p.H298Q	NTRK1_ENST00000392302.2_Missense_Mutation_p.H268Q|NTRK1_ENST00000358660.3_Missense_Mutation_p.H298Q|NTRK1_ENST00000368196.3_Missense_Mutation_p.H298Q	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	298					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AGATGCACCACTGGTGCATCC	0.627			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												dbGAP		Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	0													13.0	13.0	13.0					1																	156843468		2196	4291	6487	-	-	-	SO:0001583	missense	0			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.894C>G	1.37:g.156843468C>G	ENSP00000431418:p.His298Gln		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,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_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.H298Q	ENST00000524377.1	37	c.894	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745775	0.49151	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	6.17	2.05	0.26809	Immunoglobulin-like fold (1);	0.295993	0.29668	N	0.011514	T	0.25195	0.0612	M	0.75777	2.31	0.48632	D	0.999687	P;P;B;P	0.43885	0.782;0.82;0.085;0.477	P;B;B;B	0.51918	0.684;0.179;0.025;0.289	T	0.07121	-1.0789	10	0.54805	T	0.06	.	3.0918	0.06296	0.2525:0.4926:0.1221:0.1328	.	298;298;298;268	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	Q	268;298;298;298	ENSP00000376120:H268Q;ENSP00000357179:H298Q;ENSP00000431418:H298Q;ENSP00000351486:H298Q	ENSP00000351486:H298Q	H	+	3	2	NTRK1	155110092	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	2.126000	0.42026	0.122000	0.18314	-0.181000	0.13052	CAC	NTRK1	-	NULL	ENSG00000198400		0.627	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	17	0.00	0	C	NM_002529		156843468	156843468	+1	no_errors	ENST00000524377	ensembl	human	known	69_37n	missense	49	42.35	36	SNP	1.000	G
TENM4	26011	genome.wustl.edu	37	11	78380642	78380642	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:78380642C>A	ENST00000278550.7	-	32	7210	c.6748G>T	c.(6748-6750)Gac>Tac	p.D2250Y		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2250					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TATTGCACGTCACCCAGCCGA	0.567																																						dbGAP											0													168.0	172.0	171.0					11																	78380642		2173	4266	6439	-	-	-	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6748G>T	11.37:g.78380642C>A	ENSP00000278550:p.Asp2250Tyr		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.D2250Y	ENST00000278550.7	37	c.6748	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979918	0.74360	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.91180	-2.8;0.6	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.94706	0.8292	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93932	0.7215	9	.	.	.	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	2250	Q6N022	TEN4_HUMAN	Y	2250;714	ENSP00000278550:D2250Y;ENSP00000431711:D714Y	.	D	-	1	0	ODZ4	78058290	1.000000	0.71417	0.930000	0.37139	0.985000	0.73830	7.651000	0.83577	2.677000	0.91161	0.655000	0.94253	GAC	ODZ4	-	NULL	ENSG00000149256		0.567	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	225	0.00	0	C			78380642	78380642	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	missense	68	59.04	98	SNP	1.000	A
OPN4	94233	genome.wustl.edu	37	10	88422113	88422113	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:88422113T>C	ENST00000241891.5	+	8	1345	c.1178T>C	c.(1177-1179)cTg>cCg	p.L393P	OPN4_ENST00000372071.2_Missense_Mutation_p.L404P	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	393					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGCTCCACGCTGACCAGCCAC	0.672																																						dbGAP											0													40.0	27.0	31.0					10																	88422113		2197	4291	6488	-	-	-	SO:0001583	missense	0			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1178T>C	10.37:g.88422113T>C	ENSP00000241891:p.Leu393Pro		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.L404P	ENST00000241891.5	37	c.1211	CCDS7376.1	10	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742383	0.49151	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.32023	1.47;1.47;1.47	5.39	2.9	0.33743	.	0.664574	0.13378	N	0.392329	T	0.49660	0.1570	M	0.77616	2.38	0.36693	D	0.879673	D;D;D	0.67145	0.996;0.991;0.995	P;P;P	0.61201	0.862;0.77;0.885	T	0.55244	-0.8171	10	0.49607	T	0.09	.	8.6636	0.34108	0.1277:0.0:0.1339:0.7383	.	404;393;404	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	P	404;393;404	ENSP00000361141:L404P;ENSP00000241891:L393P;ENSP00000393132:L404P	ENSP00000241891:L393P	L	+	2	0	OPN4	88412093	0.716000	0.27956	0.298000	0.25002	0.229000	0.25112	3.894000	0.56250	0.860000	0.35481	0.533000	0.62120	CTG	OPN4	-	NULL	ENSG00000122375		0.672	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	HGNC	protein_coding	OTTHUMT00000049158.2	28	0.00	0	T	NM_033282		88422113	88422113	+1	no_errors	ENST00000372071	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	0.227	C
OR13C9	286362	genome.wustl.edu	37	9	107380041	107380041	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:107380041A>T	ENST00000259362.1	-	1	444	c.445T>A	c.(445-447)Tgg>Agg	p.W149R		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	149						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(6)|lung(9)|prostate(1)|skin(4)	22						CCTGCAAACCAGGACCCAACA	0.448																																						dbGAP											0													123.0	110.0	115.0					9																	107380041		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.445T>A	9.37:g.107380041A>T	ENSP00000259362:p.Trp149Arg		Q6IFL2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.W149R	ENST00000259362.1	37	c.445	CCDS35093.1	9	.	.	.	.	.	.	.	.	.	.	A	13.63	2.295411	0.40594	.	.	ENSG00000136839	ENST00000259362	T	0.59772	0.24	4.51	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	D	0.83986	0.5373	H	0.98314	4.2	0.30237	N	0.7954	D	0.89917	1.0	D	0.87578	0.998	D	0.85210	0.1020	10	0.87932	D	0	.	11.8145	0.52202	1.0:0.0:0.0:0.0	.	149	Q8NGT0	O13C9_HUMAN	R	149	ENSP00000259362:W149R	ENSP00000259362:W149R	W	-	1	0	OR13C9	106419862	0.985000	0.35326	0.817000	0.32601	0.376000	0.30014	8.190000	0.89714	1.869000	0.54173	0.523000	0.50628	TGG	OR13C9	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000136839		0.448	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C9	HGNC	protein_coding	OTTHUMT00000053490.1	236	0.00	0	A			107380041	107380041	-1	no_errors	ENST00000259362	ensembl	human	known	69_37n	missense	176	34.57	93	SNP	0.999	T
OR2B3	442184	genome.wustl.edu	37	6	29055004	29055004	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:29055004A>G	ENST00000377173.2	-	1	86	c.22T>C	c.(22-24)Tcc>Ccc	p.S8P		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	8						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(2)|lung(17)|prostate(1)|skin(2)	24						TCTTTTGGGGAGCTCTCATTT	0.363																																						dbGAP											0													59.0	59.0	59.0					6																	29055004		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.22T>C	6.37:g.29055004A>G	ENSP00000366378:p.Ser8Pro		B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S8P	ENST00000377173.2	37	c.22	CCDS34358.1	6	.	.	.	.	.	.	.	.	.	.	A	6.994	0.553532	0.13374	.	.	ENSG00000204703	ENST00000377173	T	0.20200	2.09	3.37	3.37	0.38596	.	0.425674	0.17303	U	0.179194	T	0.12646	0.0307	M	0.80422	2.495	0.09310	N	1	B	0.26635	0.155	B	0.22601	0.04	T	0.11494	-1.0585	10	0.54805	T	0.06	.	10.1464	0.42767	1.0:0.0:0.0:0.0	.	8	O76000	OR2B3_HUMAN	P	8	ENSP00000366378:S8P	ENSP00000366378:S8P	S	-	1	0	OR2B3	29162983	0.003000	0.15002	0.088000	0.20740	0.340000	0.28889	0.988000	0.29616	1.385000	0.46445	0.472000	0.43445	TCC	OR2B3	-	NULL	ENSG00000204703		0.363	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B3	HGNC	protein_coding	OTTHUMT00000076469.2	135	0.00	0	A			29055004	29055004	-1	no_errors	ENST00000377173	ensembl	human	known	69_37n	missense	63	52.99	71	SNP	0.008	G
OR2T12	127064	genome.wustl.edu	37	1	248458059	248458059	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:248458059G>A	ENST00000317996.1	-	1	821	c.822C>T	c.(820-822)gcC>gcT	p.A274A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			TAGTATAGAAGGCTGACACAA	0.483																																						dbGAP											0													151.0	150.0	150.0					1																	248458059		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.822C>T	1.37:g.248458059G>A				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A274	ENST00000317996.1	37	c.822	CCDS31110.1	1																																																																																			OR2T12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000177201		0.483	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	HGNC	protein_coding	OTTHUMT00000097353.1	362	0.00	0	G	NM_001004692		248458059	248458059	-1	no_errors	ENST00000317996	ensembl	human	known	69_37n	silent	361	16.24	70	SNP	0.000	A
OR52K2	119774	genome.wustl.edu	37	11	4471322	4471322	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:4471322A>T	ENST00000325719.4	+	1	798	c.753A>T	c.(751-753)ttA>ttT	p.L251F		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCCATCTTAGCCTTCTACA	0.493																																						dbGAP											0													244.0	215.0	225.0					11																	4471322		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.753A>T	11.37:g.4471322A>T	ENSP00000318956:p.Leu251Phe		A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L251F	ENST00000325719.4	37	c.753	CCDS31351.1	11	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276616	0.23307	.	.	ENSG00000181963	ENST00000325719	T	0.39406	1.08	4.16	-0.892	0.10570	GPCR, rhodopsin-like superfamily (1);	0.228496	0.22930	N	0.053912	T	0.55641	0.1933	M	0.75264	2.295	0.19300	N	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.44742	-0.9308	10	0.72032	D	0.01	.	5.7388	0.18081	0.393:0.0:0.4585:0.1485	.	251	Q8NGK3	O52K2_HUMAN	F	251	ENSP00000318956:L251F	ENSP00000318956:L251F	L	+	3	2	OR52K2	4427898	0.000000	0.05858	0.979000	0.43373	0.066000	0.16364	-5.187000	0.00143	-0.099000	0.12263	-0.648000	0.03929	TTA	OR52K2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181963		0.493	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K2	HGNC	protein_coding	OTTHUMT00000385844.1	478	0.00	0	A	NM_001005172		4471322	4471322	+1	no_errors	ENST00000325719	ensembl	human	known	69_37n	missense	723	32.34	346	SNP	0.072	T
OR56A1	120796	genome.wustl.edu	37	11	6048683	6048683	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:6048683G>A	ENST00000316650.5	-	1	288	c.252C>T	c.(250-252)gtC>gtT	p.V84V		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	84						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTGGGGATGACGGTGAGGC	0.577																																						dbGAP											0													91.0	83.0	86.0					11																	6048683		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.252C>T	11.37:g.6048683G>A			B2RNI2|Q6IFL0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V84	ENST00000316650.5	37	c.252	CCDS31405.1	11																																																																																			OR56A1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000180934		0.577	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	317	0.31	1	G	NM_001001917		6048683	6048683	-1	no_errors	ENST00000316650	ensembl	human	known	69_37n	silent	497	19.84	123	SNP	0.731	A
OR4C13	283092	genome.wustl.edu	37	11	49974137	49974137	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:49974137T>A	ENST00000555099.1	+	1	195	c.163T>A	c.(163-165)Tcc>Acc	p.S55T		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATCACTGAGATCCCCCATGTA	0.428																																						dbGAP											0													255.0	233.0	240.0					11																	49974137		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.163T>A	11.37:g.49974137T>A	ENSP00000452277:p.Ser55Thr		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S55T	ENST00000555099.1	37	c.163	CCDS31495.1	11	.	.	.	.	.	.	.	.	.	.	.	3.283	-0.146511	0.06627	.	.	ENSG00000258817	ENST00000555099	T	0.00350	7.98	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000942	T	0.00178	0.0005	N	0.25332	0.735	0.09310	N	1	B	0.14012	0.009	B	0.19946	0.027	T	0.28586	-1.0039	9	.	.	.	.	5.4213	0.16402	0.2509:0.0:0.0:0.7491	.	55	Q8NGP0	OR4CD_HUMAN	T	55	ENSP00000452277:S55T	.	S	+	1	0	OR4C13	49930713	0.000000	0.05858	0.487000	0.27428	0.038000	0.13279	-0.184000	0.09698	1.346000	0.45694	0.164000	0.16699	TCC	OR4C13	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000258817		0.428	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C13	HGNC	protein_coding	OTTHUMT00000391103.1	388	0.00	0	T	NM_001001955		49974137	49974137	+1	no_errors	ENST00000555099	ensembl	human	known	69_37n	missense	1069	16.45	211	SNP	0.001	A
OR5H15	403274	genome.wustl.edu	37	3	97887998	97887998	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:97887998G>T	ENST00000356526.2	+	1	455	c.455G>T	c.(454-456)gGt>gTt	p.G152V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TATATAGCTGGTATTCTTCAT	0.373																																						dbGAP											0													76.0	74.0	75.0					3																	97887998		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.455G>T	3.37:g.97887998G>T	ENSP00000373195:p.Gly152Val			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G152V	ENST00000356526.2	37	c.455	CCDS33799.1	3	.	.	.	.	.	.	.	.	.	.	-	12.37	1.917951	0.33815	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.39056	1.1	2.48	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.137715	0.33419	N	0.004927	T	0.64994	0.2649	M	0.90814	3.15	0.47862	D	0.99953	D	0.89917	1.0	D	0.97110	1.0	T	0.65327	-0.6195	10	0.87932	D	0	.	7.394	0.26926	0.1435:0.0:0.8565:0.0	.	152	A6NDH6	O5H15_HUMAN	V	152	ENSP00000373195:G152V	ENSP00000373195:G152V	G	+	2	0	OR5H15	99370688	0.989000	0.36119	0.029000	0.17559	0.002000	0.02628	3.569000	0.53827	0.377000	0.24735	-1.207000	0.01640	GGT	OR5H15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000233412		0.373	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	158	0.00	0	G			97887998	97887998	+1	no_errors	ENST00000356526	ensembl	human	known	69_37n	missense	73	50.68	75	SNP	0.974	T
OR5T1	390155	genome.wustl.edu	37	11	56043743	56043743	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:56043743T>C	ENST00000313033.2	+	1	715	c.629T>C	c.(628-630)cTa>cCa	p.L210P		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATCCAGCTTCTATTCTTCTAC	0.418																																						dbGAP											0													228.0	218.0	221.0					11																	56043743		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.629T>C	11.37:g.56043743T>C	ENSP00000323612:p.Leu210Pro		B2RNM9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L210P	ENST00000313033.2	37	c.629	CCDS31525.1	11	.	.	.	.	.	.	.	.	.	.	T	13.97	2.396190	0.42512	.	.	ENSG00000181698	ENST00000313033	T	0.39787	1.06	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39210	N	0.001437	T	0.63838	0.2545	M	0.87827	2.91	0.09310	N	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.55256	-0.8169	10	0.87932	D	0	.	7.1427	0.25564	0.2001:0.0:0.0:0.7999	.	210	Q8NG75	OR5T1_HUMAN	P	210	ENSP00000323612:L210P	ENSP00000323612:L210P	L	+	2	0	OR5T1	55800319	0.001000	0.12720	0.028000	0.17463	0.263000	0.26337	0.484000	0.22308	1.583000	0.49898	0.381000	0.24937	CTA	OR5T1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181698		0.418	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	516	0.00	0	T	NM_001004745		56043743	56043743	+1	no_errors	ENST00000313033	ensembl	human	known	69_37n	missense	585	24.19	187	SNP	0.001	C
OVGP1	5016	genome.wustl.edu	37	1	111963924	111963924	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:111963924G>C	ENST00000369732.3	-	8	932	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E	OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Intron	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	293					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AAGCCTTCTTGCTTGGTGTAC	0.537																																						dbGAP											0													119.0	119.0	119.0					1																	111963924		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.877C>G	1.37:g.111963924G>C	ENSP00000358747:p.Gln293Glu		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.Q293E	ENST00000369732.3	37	c.877	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	G	2.896	-0.228630	0.06022	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.36699	1.24	5.08	3.09	0.35607	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.145927	0.64402	D	0.000013	T	0.04137	0.0115	N	0.01656	-0.775	0.80722	D	1	B;B	0.30326	0.025;0.276	B;B	0.36378	0.023;0.223	T	0.32428	-0.9907	10	0.02654	T	1	-3.3506	7.7562	0.28925	0.0:0.2852:0.5592:0.1556	.	293;357	Q12889;Q59HH5	OVGP1_HUMAN;.	E	293;357;101	ENSP00000358747:Q293E	ENSP00000358743:Q357E	Q	-	1	0	OVGP1	111765447	0.994000	0.37717	1.000000	0.80357	0.875000	0.50365	1.799000	0.38824	1.340000	0.45581	0.491000	0.48974	CAA	OVGP1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000085465		0.537	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	191	0.00	0	G	NM_002557		111963924	111963924	-1	no_errors	ENST00000369732	ensembl	human	known	69_37n	missense	45	75.81	141	SNP	1.000	C
OXSM	54995	genome.wustl.edu	37	3	25832724	25832725	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:25832724_25832725insG	ENST00000280701.3	+	2	312_313	c.213_214insG	c.(214-216)ggafs	p.G72fs	OXSM_ENST00000449808.1_3'UTR|NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Frame_Shift_Ins_p.G72fs	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	72					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GAGGAGAGAGTGGAATTGTTTC	0.455																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.215dupG	3.37:g.25832726_25832726dupG	ENSP00000280701:p.Gly72fs			Frame_Shift_Ins	INS	pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2	p.I72fs	ENST00000280701.3	37	c.213_214	CCDS2643.1	3																																																																																			OXSM	-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2	ENSG00000151093		0.455	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXSM	HGNC	protein_coding	OTTHUMT00000252876.2	243	0.00	0	-	NM_017897		25832724	25832725	+1	no_errors	ENST00000280701	ensembl	human	known	69_37n	frame_shift_ins	202	14.77	35	INS	1.000:1.000	G
PAK6	56924	genome.wustl.edu	37	15	40564516	40564516	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr15:40564516C>T	ENST00000542403.2	+	4	1061	c.950C>T	c.(949-951)aCc>aTc	p.T317I	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.T317I|PAK6_ENST00000260404.4_Missense_Mutation_p.T317I|PAK6_ENST00000455577.2_Missense_Mutation_p.T317I|PAK6_ENST00000441369.1_Missense_Mutation_p.T317I|PAK6_ENST00000453867.1_Missense_Mutation_p.T317I	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	317	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCGGTGGGGACCTTCAGCCCT	0.677																																						dbGAP											0													65.0	77.0	73.0					15																	40564516		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.950C>T	15.37:g.40564516C>T	ENSP00000439597:p.Thr317Ile		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.T317I	ENST00000542403.2	37	c.950	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001036	0.35320	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74315	-0.8;-0.8;-0.83;-0.8;-0.8	5.02	1.7	0.24286	.	0.772536	0.12144	N	0.495536	T	0.51193	0.1660	N	0.08118	0	0.29417	N	0.86081	B;B	0.14012	0.005;0.009	B;B	0.16289	0.007;0.015	T	0.45101	-0.9284	10	0.37606	T	0.19	.	6.6786	0.23108	0.2384:0.6564:0.0:0.1052	.	317;317	Q9NQU5;G5E9R2	PAK6_HUMAN;.	I	317	ENSP00000406873:T317I;ENSP00000401153:T317I;ENSP00000409465:T317I;ENSP00000260404:T317I;ENSP00000439597:T317I	ENSP00000260404:T317I	T	+	2	0	PAK6	38351808	0.829000	0.29322	0.998000	0.56505	0.997000	0.91878	1.370000	0.34238	0.566000	0.29273	0.555000	0.69702	ACC	PAK6	-	NULL	ENSG00000137843		0.677	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	123	0.00	0	C			40564516	40564516	+1	no_errors	ENST00000260404	ensembl	human	known	69_37n	missense	27	47.06	24	SNP	0.969	T
PAK6	56924	genome.wustl.edu	37	15	40564521	40564521	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr15:40564521A>T	ENST00000542403.2	+	4	1066	c.955A>T	c.(955-957)Agc>Tgc	p.S319C	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.S319C|PAK6_ENST00000260404.4_Missense_Mutation_p.S319C|PAK6_ENST00000455577.2_Missense_Mutation_p.S319C|PAK6_ENST00000441369.1_Missense_Mutation_p.S319C|PAK6_ENST00000453867.1_Missense_Mutation_p.S319C	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	319	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGGGACCTTCAGCCCTCTGAC	0.682																																						dbGAP											0													65.0	76.0	72.0					15																	40564521		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.955A>T	15.37:g.40564521A>T	ENSP00000439597:p.Ser319Cys		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.S319C	ENST00000542403.2	37	c.955	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	A	15.27	2.783404	0.49891	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.75367	-0.88;-0.88;-0.93;-0.88;-0.88	4.49	4.49	0.54785	.	0.224305	0.46758	D	0.000267	T	0.68522	0.3010	N	0.19112	0.55	0.32727	N	0.509505	D;D	0.57257	0.964;0.979	P;P	0.53313	0.533;0.723	T	0.76615	-0.2894	10	0.62326	D	0.03	.	10.3594	0.43984	1.0:0.0:0.0:0.0	.	319;319	Q9NQU5;G5E9R2	PAK6_HUMAN;.	C	319	ENSP00000406873:S319C;ENSP00000401153:S319C;ENSP00000409465:S319C;ENSP00000260404:S319C;ENSP00000439597:S319C	ENSP00000260404:S319C	S	+	1	0	PAK6	38351813	0.362000	0.24980	1.000000	0.80357	0.994000	0.84299	2.140000	0.42159	2.016000	0.59253	0.454000	0.30748	AGC	PAK6	-	NULL	ENSG00000137843		0.682	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	124	0.00	0	A			40564521	40564521	+1	no_errors	ENST00000260404	ensembl	human	known	69_37n	missense	25	45.65	21	SNP	0.991	T
PAQR5	54852	genome.wustl.edu	37	15	69652466	69652466	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr15:69652466C>G	ENST00000340965.3	+	3	715	c.47C>G	c.(46-48)cCc>cGc	p.P16R	PAQR5_ENST00000561153.1_Missense_Mutation_p.P16R|PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000395407.2_Missense_Mutation_p.P16R	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	16					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GACCAGATACCCCAGGTATGT	0.542																																						dbGAP											0													144.0	127.0	133.0					15																	69652466		2200	4298	6498	-	-	-	SO:0001583	missense	0				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.47C>G	15.37:g.69652466C>G	ENSP00000343877:p.Pro16Arg		Q8IXU2	Missense_Mutation	SNP	pfam_HlyIII-related	p.P16R	ENST00000340965.3	37	c.47	CCDS10232.1	15	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391077	0.42410	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.56941	0.43;0.43	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.78553	0.4301	M	0.93328	3.405	0.52501	D	0.999958	D	0.89917	1.0	D	0.83275	0.996	D	0.83462	0.0054	10	0.66056	D	0.02	-2.0952	13.7061	0.62639	0.0:1.0:0.0:0.0	.	16	Q9NXK6	MPRG_HUMAN	R	16	ENSP00000378803:P16R;ENSP00000343877:P16R	ENSP00000343877:P16R	P	+	2	0	PAQR5	67439520	0.995000	0.38212	0.999000	0.59377	0.017000	0.09413	3.252000	0.51461	2.615000	0.88500	0.561000	0.74099	CCC	PAQR5	-	NULL	ENSG00000137819		0.542	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR5	HGNC	protein_coding	OTTHUMT00000416671.1	164	0.00	0	C	NM_017705		69652466	69652466	+1	no_errors	ENST00000340965	ensembl	human	known	69_37n	missense	74	43.08	56	SNP	1.000	G
PC	5091	genome.wustl.edu	37	11	66638846	66638846	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:66638846G>T	ENST00000393958.2	-	5	520	c.427C>A	c.(427-429)Cca>Aca	p.P143T	PC_ENST00000393955.2_Missense_Mutation_p.P143T|PC_ENST00000524491.1_Missense_Mutation_p.P103T|PC_ENST00000355677.3_Missense_Mutation_p.P143T|PC_ENST00000393960.1_Missense_Mutation_p.P143T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	143	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACCACTTCTGGGCTTGGCCCA	0.637																																						dbGAP											0													81.0	88.0	86.0					11																	66638846		2200	4295	6495	-	-	-	SO:0001583	missense	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.427C>A	11.37:g.66638846G>T	ENSP00000377530:p.Pro143Thr		B4DN00|Q16705	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase	p.P143T	ENST00000393958.2	37	c.427	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454210	0.84209	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44	4.76	4.76	0.60689	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.79926	2.475	0.80722	D	1	P	0.52170	0.951	D	0.63381	0.914	D	0.97758	1.0219	10	0.39692	T	0.17	-14.7686	15.3076	0.74004	0.0:0.0:1.0:0.0	.	143	P11498	PYC_HUMAN	T	143;143;143;103;143	ENSP00000377527:P143T;ENSP00000377530:P143T;ENSP00000377532:P143T;ENSP00000434192:P103T;ENSP00000347900:P143T	ENSP00000347900:P143T	P	-	1	0	PC	66395422	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.603000	0.90871	2.472000	0.83506	0.655000	0.94253	CCA	PC	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,pirsf_Pyruv_COase,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase	ENSG00000173599		0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	64	0.00	0	G	NM_001040716		66638846	66638846	-1	no_errors	ENST00000393958	ensembl	human	known	69_37n	missense	18	14.29	3	SNP	1.000	T
PCDHGB1	56104	genome.wustl.edu	37	5	140731702	140731702	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:140731702G>A	ENST00000523390.1	+	1	1875	c.1875G>A	c.(1873-1875)gcG>gcA	p.A625A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	625	Cadherin 6. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCACAGCGCGTGCCTTGG	0.697																																						dbGAP											0													15.0	16.0	16.0					5																	140731702		1850	4011	5861	-	-	-	SO:0001819	synonymous_variant	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1875G>A	5.37:g.140731702G>A			Q3SY75|Q9Y5C8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A625	ENST00000523390.1	37	c.1875	CCDS54923.1	5																																																																																			PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254221		0.697	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	24	0.00	0	G	NM_018922		140731702	140731702	+1	no_errors	ENST00000523390	ensembl	human	known	69_37n	silent	2	90.00	18	SNP	0.000	A
PCDHGA4	56111	genome.wustl.edu	37	5	140736102	140736102	+	Silent	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:140736102C>A	ENST00000571252.1	+	1	1335	c.1335C>A	c.(1333-1335)atC>atA	p.I445I	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGGACATCAATGACAACC	0.463																																						dbGAP											0													99.0	102.0	101.0					5																	140736102		2087	4245	6332	-	-	-	SO:0001819	synonymous_variant	0			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1335C>A	5.37:g.140736102C>A			Q9Y5D3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I445	ENST00000571252.1	37	c.1335	CCDS58979.1	5																																																																																			PCDHGA4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000262576		0.463	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	183	0.00	0	C	NM_018917		140736102	140736102	+1	no_errors	ENST00000571252	ensembl	human	known	69_37n	silent	104	26.76	38	SNP	0.904	A
PCDHGA11	56105	genome.wustl.edu	37	5	140802703	140802704	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:140802703_140802704GA>AT	ENST00000398587.2	+	1	1942_1943	c.1909_1910GA>AT	c.(1909-1911)GAc>ATc	p.D637I	PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	637	Cadherin 6. {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)	p.D637H(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGAGACGCGCTCAAG	0.698																																						dbGAP											1	Substitution - Missense(1)	kidney(1)																																								-	-	-	SO:0001583	missense	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	Exception_encountered	5.37:g.140802703_140802704delinsAT	ENSP00000381589:p.Asp637Ile		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D637N|p.D637V	ENST00000398587.2	37	c.1909|c.1910	CCDS47294.1	5																																																																																			PCDHGA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.698	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	35|36	0.00	0	G|A	NM_018914		140802703|140802704	140802703|140802704	+1	no_errors	ENST00000398587	ensembl	human	known	69_37n	missense	12|10	88.68|89.32	94|92	SNP	1.000|0.995	A|T
PCMT1	5110	genome.wustl.edu	37	6	150092324	150092324	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:150092324G>C	ENST00000367380.5	+	2	289	c.82G>C	c.(82-84)Gta>Cta	p.V28L	PCMT1_ENST00000367384.2_Missense_Mutation_p.V86L|PCMT1_ENST00000464889.1_Missense_Mutation_p.V86L|PCMT1_ENST00000544496.1_Intron|PCMT1_ENST00000367378.1_Missense_Mutation_p.V86L	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	28					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		GACAGATAAAGTATTTGAAGT	0.358																																						dbGAP											0													88.0	84.0	85.0					6																	150092324		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.82G>C	6.37:g.150092324G>C	ENSP00000356350:p.Val28Leu		A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP	pfam_PCMT,tigrfam_PCMT	p.V86L	ENST00000367380.5	37	c.256		6	.	.	.	.	.	.	.	.	.	.	G	34	5.325461	0.95708	.	.	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889;ENST00000367380	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	M	0.78456	2.415	0.80722	D	1	D;D;D;D;P	0.89917	0.99;0.993;1.0;0.99;0.935	D;P;D;D;P	0.85130	0.986;0.822;0.997;0.986;0.615	T	0.72327	-0.4327	10	0.62326	D	0.03	-20.5647	18.4695	0.90767	0.0:0.0:1.0:0.0	.	86;28;86;86;28	F8WAX2;P22061-2;F8WAV5;F8WDT3;P22061	.;.;.;.;PIMT_HUMAN	L	86;86;86;28	ENSP00000356354:V86L;ENSP00000356348:V86L;ENSP00000420813:V86L;ENSP00000356350:V28L	ENSP00000356348:V86L	V	+	1	0	PCMT1	150134017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.021000	0.93673	2.651000	0.90000	0.591000	0.81541	GTA	PCMT1	-	pfam_PCMT,tigrfam_PCMT	ENSG00000120265		0.358	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	PCMT1	HGNC	protein_coding		85	0.00	0	G			150092324	150092324	+1	no_errors	ENST00000367384	ensembl	human	known	69_37n	missense	65	34.34	34	SNP	1.000	C
PDIA4	9601	genome.wustl.edu	37	7	148701190	148701190	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:148701190T>C	ENST00000286091.4	-	10	1866	c.1634A>G	c.(1633-1635)gAc>gGc	p.D545G		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	545	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GATGAGGACGTCCTTCTTGGG	0.567																																						dbGAP											0													175.0	157.0	163.0					7																	148701190		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1634A>G	7.37:g.148701190T>C	ENSP00000286091:p.Asp545Gly		A8K4K6|Q549T6	Missense_Mutation	SNP	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.D545G	ENST00000286091.4	37	c.1634	CCDS5893.1	7	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124569	0.77436	.	.	ENSG00000155660	ENST00000286091	T	0.21543	2.0	5.81	5.81	0.92471	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.50381	-0.8835	10	0.72032	D	0.01	.	16.1616	0.81721	0.0:0.0:0.0:1.0	.	545	P13667	PDIA4_HUMAN	G	545	ENSP00000286091:D545G	ENSP00000286091:D545G	D	-	2	0	PDIA4	148332123	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	7.789000	0.85783	2.221000	0.72209	0.454000	0.30748	GAC	PDIA4	-	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	ENSG00000155660		0.567	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1	100	0.00	0	T	NM_004911		148701190	148701190	-1	no_errors	ENST00000286091	ensembl	human	known	69_37n	missense	50	30.56	22	SNP	1.000	C
PDZD4	57595	genome.wustl.edu	37	X	153070189	153070191	+	Missense_Mutation	TNP	CCC	CCC	TTT			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:153070189_153070191CCC>TTT	ENST00000164640.4	-	8	1118_1120	c.927_929GGG>AAA	c.(925-930)ccGGGa>ccAAAa	p.G310K	PDZD4_ENST00000393758.2_Missense_Mutation_p.G235K|PDZD4_ENST00000544474.1_Missense_Mutation_p.G201K|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	310						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCAGGCTTCCCGGGGTGTTGG	0.68																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.927_929GGG>AAA	X.37:g.153070189CCC>TTT	ENSP00000164640:p.Gly310Lys		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation|Missense_Mutation|Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G310E|p.G310R|p.P309	ENST00000164640.4	37	c.929|c.928|c.927	CCDS14732.1	X																																																																																			PDZD4	-	NULL	ENSG00000067840		0.680	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	44|43|44	0.00	0	C	NM_032512		153070189|153070190|153070191	153070189|153070190|153070191	-1	no_errors	ENST00000164640	ensembl	human	known	69_37n	missense|missense|silent	2	80.00	8	SNP	0.982|0.980|0.393	T
PDZD4	57595	genome.wustl.edu	37	X	153070217	153070217	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:153070217C>T	ENST00000164640.4	-	8	1092	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PDZD4_ENST00000393758.2_Missense_Mutation_p.E226K|PDZD4_ENST00000544474.1_Missense_Mutation_p.E192K|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	301						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGGGGGTTCGTCCCCCAGC	0.657																																						dbGAP											0													53.0	41.0	45.0					X																	153070217		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.901G>A	X.37:g.153070217C>T	ENSP00000164640:p.Glu301Lys		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E301K	ENST00000164640.4	37	c.901	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193135	0.58017	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.04406	3.63;3.63;3.84	5.15	5.15	0.70609	.	0.298638	0.31797	N	0.007052	T	0.05914	0.0154	L	0.39898	1.24	0.34932	D	0.749466	B;P;D;D;P	0.52996	0.226;0.944;0.957;0.957;0.789	B;B;B;B;B	0.38880	0.042;0.281;0.225;0.284;0.217	T	0.28396	-1.0045	10	0.66056	D	0.02	-27.6089	16.4277	0.83824	0.0:1.0:0.0:0.0	.	192;307;301;226;205	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	K	301;226;205;192	ENSP00000164640:E301K;ENSP00000377355:E226K;ENSP00000442033:E192K	ENSP00000164640:E301K	E	-	1	0	PDZD4	152723411	0.994000	0.37717	0.897000	0.35233	0.831000	0.47069	3.182000	0.50910	2.134000	0.65973	0.529000	0.55759	GAA	PDZD4	-	NULL	ENSG00000067840		0.657	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	37	0.00	0	C	NM_032512		153070217	153070217	-1	no_errors	ENST00000164640	ensembl	human	known	69_37n	missense	0	100.00	13	SNP	0.887	T
JADE2	23338	genome.wustl.edu	37	5	133902065	133902066	+	In_Frame_Ins	INS	-	-	CGA	rs142435802	byFrequency	TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:133902065_133902066insCGA	ENST00000402835.1	+	9	1484_1485	c.1229_1230insCGA	c.(1228-1233)ccggct>ccCGAggct	p.410_411PA>PEA	PHF15_ENST00000282605.4_In_Frame_Ins_p.410_411PA>PEA|PHF15_ENST00000361895.2_In_Frame_Ins_p.410_411PA>PEA|PHF15_ENST00000395003.1_In_Frame_Ins_p.410_411PA>PEA																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGTGGAGCCGGCTGAGGTGG	0.629																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0																														Exception_encountered	5.37:g.133902065_133902066insCGA	ENSP00000384671:p.Pro410_Ala411insGlu			In_Frame_Ins	INS	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.427in_frame_insE	ENST00000402835.1	37	c.1277_1278		5																																																																																			PHF15	-	NULL	ENSG00000043143		0.629	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	27	0.00	0	-			133902065	133902066	+1	no_errors	ENST00000448712	ensembl	human	known	69_37n	in_frame_ins	28	31.71	13	INS	0.998:0.000	CGA
JADE2	23338	genome.wustl.edu	37	5	133902069	133902070	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:133902069_133902070delTG	ENST00000402835.1	+	9	1488_1489	c.1233_1234delTG	c.(1231-1236)gctgagfs	p.E412fs	PHF15_ENST00000282605.4_Frame_Shift_Del_p.E412fs|PHF15_ENST00000361895.2_Frame_Shift_Del_p.E412fs|PHF15_ENST00000395003.1_Frame_Shift_Del_p.E412fs																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGAGCCGGCTGAGGTGGCTGA	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000402835.1:c.1233_1234delTG	5.37:g.133902069_133902070delTG	ENSP00000384671:p.Glu412fs			Frame_Shift_Del	DEL	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E428fs	ENST00000402835.1	37	c.1281_1282		5																																																																																			PHF15	-	NULL	ENSG00000043143		0.624	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	28	0.00	0	TG			133902069	133902070	+1	no_errors	ENST00000448712	ensembl	human	known	69_37n	frame_shift_del	20	39.39	13	DEL	0.000:1.000	-
PHF3	23469	genome.wustl.edu	37	6	64422056	64422056	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:64422056A>C	ENST00000262043.3	+	16	4912	c.4572A>C	c.(4570-4572)aaA>aaC	p.K1524N	PHF3_ENST00000393387.1_Missense_Mutation_p.K1524N			Q92576	PHF3_HUMAN	PHD finger protein 3	1524					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGGAGATAAAAGTTAAAGTAG	0.343																																					GBM(135;136 1820 29512 34071 46235)	dbGAP											0													51.0	53.0	53.0					6																	64422056		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4572A>C	6.37:g.64422056A>C	ENSP00000262043:p.Lys1524Asn		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.K1524N	ENST00000262043.3	37	c.4572	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	A	4.969	0.180047	0.09443	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.55234	0.53;1.75;1.75	5.94	-4.4	0.03600	.	0.353172	0.20431	N	0.092472	T	0.16300	0.0392	L	0.34521	1.04	0.09310	N	0.999994	B	0.21905	0.062	B	0.17098	0.017	T	0.23404	-1.0189	10	0.72032	D	0.01	-3.7189	8.1178	0.30953	0.6505:0.0:0.1426:0.207	.	1524	Q92576	PHF3_HUMAN	N	793;1524;1524	ENSP00000425338:K793N;ENSP00000262043:K1524N;ENSP00000377048:K1524N	ENSP00000262043:K1524N	K	+	3	2	PHF3	64480015	0.393000	0.25237	0.006000	0.13384	0.029000	0.11900	0.502000	0.22594	-0.940000	0.03705	-0.490000	0.04691	AAA	PHF3	-	NULL	ENSG00000118482		0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	98	0.00	0	A			64422056	64422056	+1	no_errors	ENST00000262043	ensembl	human	known	69_37n	missense	119	38.34	74	SNP	0.000	C
PHLPP1	23239	genome.wustl.edu	37	18	60646636	60646636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr18:60646636delT	ENST00000262719.5	+	17	5360	c.5126delT	c.(5125-5127)ctgfs	p.L1709fs	PHLPP1_ENST00000400316.4_Frame_Shift_Del_p.L1197fs			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1709					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						ctggaccagctgcCAGATTAT	0.547																																						dbGAP											0													5.0	5.0	5.0					18																	60646636		1958	3859	5817	-	-	-	SO:0001589	frameshift_variant	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.5126delT	18.37:g.60646636delT	ENSP00000262719:p.Leu1709fs		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Frame_Shift_Del	DEL	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.L1709fs	ENST00000262719.5	37	c.5126	CCDS45881.2	18																																																																																			PHLPP1	-	NULL	ENSG00000081913		0.547	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	19	0.00	0	T	NM_194449		60646636	60646636	+1	no_errors	ENST00000262719	ensembl	human	known	69_37n	frame_shift_del	12	40.00	8	DEL	1.000	-
PIK3R6	146850	genome.wustl.edu	37	17	8741904	8741904	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:8741904T>A	ENST00000311434.9	-	4	405	c.166A>T	c.(166-168)Att>Ttt	p.I56F	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	56					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CTGAGAAGAATGCGGACCAGC	0.607																																						dbGAP											0													43.0	47.0	46.0					17																	8741904		1946	4128	6074	-	-	-	SO:0001583	missense	0			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.166A>T	17.37:g.8741904T>A	ENSP00000475670:p.Ile56Phe		Q658R3	RNA	SNP	-	NULL	ENST00000311434.9	37	NULL		17																																																																																			PIK3R6	-	-	ENSG00000174083		0.607	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		107	0.00	0	T	NM_001010855		8741904	8741904	-1	no_errors	ENST00000311434	ensembl	human	known	69_37n	rna	97	37.97	60	SNP	0.981	A
PJA1	64219	genome.wustl.edu	37	X	68381070	68381071	+	3'UTR	DNP	TT	TT	CC			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:68381070_68381071TT>CC	ENST00000361478.1	-	0	2388_2389				PJA1_ENST00000374571.4_3'UTR|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374584.3_3'UTR|PJA1_ENST00000374583.1_3'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase						protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATTTCCATTGTTAATTTCAAGA	0.391																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1930_1930delinsCC	X.37:g.68381070_68381071delinsCC			A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	NULL	p.*56	ENST00000361478.1	37	c.168|c.167	CCDS14393.1	X																																																																																			PJA1	-	NULL	ENSG00000181191		0.391	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	43|44	0.00	0	T	NM_145119		68381070|68381071	68381070|68381071	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000471141	ensembl	human	putative	69_37n	silent	7	92.93|93.20	92|96	SNP	0.014|0.029	C
PKHD1L1	93035	genome.wustl.edu	37	8	110520355	110520355	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:110520355C>T	ENST00000378402.5	+	70	11361	c.11257C>T	c.(11257-11259)Ctt>Ttt	p.L3753F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3753					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L3757F(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGTAAGTACCTTCCAGAGTG	0.353										HNSCC(38;0.096)																												dbGAP											1	Substitution - Missense(1)	lung(1)											141.0	132.0	135.0					8																	110520355		1836	4092	5928	-	-	-	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11257C>T	8.37:g.110520355C>T	ENSP00000367655:p.Leu3753Phe		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.L3753F	ENST00000378402.5	37	c.11257	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787479	0.31593	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85556	-2.0;-1.81	5.71	2.08	0.27032	.	0.108903	0.64402	D	0.000010	T	0.63546	0.2520	N	0.08118	0	0.26024	N	0.981833	B	0.06786	0.001	B	0.10450	0.005	T	0.47898	-0.9081	10	0.09338	T	0.73	.	5.637	0.17542	0.6982:0.147:0.1548:0.0	.	3753	Q86WI1	PKHL1_HUMAN	F	3753;681	ENSP00000367655:L3753F;ENSP00000437376:L681F	ENSP00000367655:L3753F	L	+	1	0	PKHD1L1	110589531	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.851000	0.55926	0.427000	0.26145	-1.154000	0.01816	CTT	PKHD1L1	-	NULL	ENSG00000205038		0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	318	0.00	0	C	NM_177531		110520355	110520355	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	500	26.04	176	SNP	1.000	T
PKNOX1	5316	genome.wustl.edu	37	21	44438269	44438269	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr21:44438269G>A	ENST00000291547.5	+	7	860	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	PKNOX1_ENST00000432907.2_Missense_Mutation_p.V100I	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	217					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						GCCTGTCACGGTCGTCACTCC	0.453																																						dbGAP											0													105.0	89.0	94.0					21																	44438269		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.649G>A	21.37:g.44438269G>A	ENSP00000291547:p.Val217Ile		O00528|Q8IWT7	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V217I	ENST00000291547.5	37	c.649	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728096	0.30593	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.86497	-1.86;-2.13	4.74	4.74	0.60224	.	0.064428	0.64402	D	0.000008	T	0.82268	0.5000	L	0.57536	1.79	0.54753	D	0.999989	P;B	0.40083	0.702;0.3	B;B	0.36092	0.217;0.164	T	0.79676	-0.1704	10	0.21540	T	0.41	-22.4502	11.592	0.50951	0.0827:0.0:0.9173:0.0	.	217;217	P55347;P55347-2	PKNX1_HUMAN;.	I	217;100	ENSP00000291547:V217I;ENSP00000402243:V100I	ENSP00000291547:V217I	V	+	1	0	PKNOX1	43311338	1.000000	0.71417	0.182000	0.23118	0.335000	0.28730	5.983000	0.70540	2.329000	0.79093	0.561000	0.74099	GTC	PKNOX1	-	NULL	ENSG00000160199		0.453	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3	174	0.00	0	G			44438269	44438269	+1	no_errors	ENST00000291547	ensembl	human	known	69_37n	missense	138	18.60	32	SNP	0.997	A
PLA2G15	23659	genome.wustl.edu	37	16	68293388	68293388	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:68293388T>G	ENST00000219345.5	+	6	1150	c.1067T>G	c.(1066-1068)tTt>tGt	p.F356C	RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000444212.2_Missense_Mutation_p.F156C|PLA2G15_ENST00000413021.2_Missense_Mutation_p.F262C|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_3'UTR	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	356					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						AAAATCTGCTTTGGTGACGGC	0.597																																						dbGAP											0													85.0	78.0	80.0					16																	68293388		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.1067T>G	16.37:g.68293388T>G	ENSP00000219345:p.Phe356Cys		B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.F356C	ENST00000219345.5	37	c.1067	CCDS10864.1	16	.	.	.	.	.	.	.	.	.	.	T	17.64	3.438724	0.62955	.	.	ENSG00000103066	ENST00000413021;ENST00000219345;ENST00000444212	D;D;D	0.95377	-3.66;-3.66;-3.69	5.93	0.583	0.17417	.	0.405230	0.30501	N	0.009482	D	0.95114	0.8417	L	0.36672	1.1	0.31548	N	0.659128	D;D;D	0.69078	0.993;0.997;0.98	D;D;P	0.65443	0.915;0.935;0.792	D	0.93671	0.6990	10	0.72032	D	0.01	-16.4049	12.3763	0.55281	0.7395:0.0:0.0:0.2605	.	156;262;356	B4DPU0;B4DUD1;Q8NCC3	.;.;PAG15_HUMAN	C	262;356;156	ENSP00000394197:F262C;ENSP00000219345:F356C;ENSP00000393610:F156C	ENSP00000219345:F356C	F	+	2	0	PLA2G15	66850889	0.157000	0.22836	0.987000	0.45799	0.933000	0.57130	0.827000	0.27421	0.101000	0.17610	-0.333000	0.08304	TTT	PLA2G15	-	pfam_LACT/PDAT_acylTrfase	ENSG00000103066		0.597	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G15	HGNC	protein_coding	OTTHUMT00000268888.2	53	0.00	0	T	NM_012320		68293388	68293388	+1	no_errors	ENST00000219345	ensembl	human	known	69_37n	missense	22	38.89	14	SNP	0.999	G
PLCB1	23236	genome.wustl.edu	37	20	8719944	8719944	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr20:8719944G>A	ENST00000338037.6	+	21	2272	c.2245G>A	c.(2245-2247)Gtt>Att	p.V749I	PLCB1_ENST00000378641.3_Missense_Mutation_p.V749I|PLCB1_ENST00000378637.2_Missense_Mutation_p.V749I|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	749	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAGAATAGCAGTTTATGAAGA	0.408																																						dbGAP											0													120.0	118.0	118.0					20																	8719944		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2245G>A	20.37:g.8719944G>A	ENSP00000338185:p.Val749Ile		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.V749I	ENST00000338037.6	37	c.2245	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024337	0.93462	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061;ENST00000439627	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	4.82	4.82	0.62117	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.208587	0.40554	N	0.001062	T	0.45836	0.1362	M	0.74647	2.275	0.37064	D	0.898194	P;B	0.41597	0.756;0.112	P;B	0.51453	0.67;0.17	T	0.56384	-0.7988	10	0.56958	D	0.05	.	17.9249	0.88980	0.0:0.0:1.0:0.0	.	749;749	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	I	749;749;749;669;669;95;68	ENSP00000367908:V749I;ENSP00000338185:V749I;ENSP00000367904:V749I;ENSP00000391162:V68I	ENSP00000338185:V749I	V	+	1	0	PLCB1	8667944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.779000	0.99018	2.236000	0.73375	0.650000	0.86243	GTT	PLCB1	-	pirsf_PLC-beta,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000182621		0.408	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	289	0.00	0	G			8719944	8719944	+1	no_errors	ENST00000338037	ensembl	human	known	69_37n	missense	101	32.68	50	SNP	1.000	A
PLCD3	113026	genome.wustl.edu	37	17	43190567	43190567	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:43190567T>A	ENST00000322765.5	-	14	2164	c.2051A>T	c.(2050-2052)gAc>gTc	p.D684V	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	685	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CACCAGGGGGTCCACAATGGA	0.637																																						dbGAP											0													18.0	20.0	19.0					17																	43190567		2104	4234	6338	-	-	-	SO:0001583	missense	0			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.2051A>T	17.37:g.43190567T>A	ENSP00000313731:p.Asp684Val		Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D684V	ENST00000322765.5	37	c.2051		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.730296|4.730296	0.89390|0.89390	.|.	.|.	ENSG00000161714|ENSG00000161714	ENST00000322765|ENST00000539433	T|.	0.77489|.	-1.1|.	4.84|4.84	4.84|4.84	0.62591|0.62591	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70413|0.70413	0.3221|0.3221	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.70059|0.70059	-0.4976|-0.4976	9|4	0.87932|.	D|.	0|.	.|.	14.5337|14.5337	0.67944|0.67944	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	685|.	Q8N3E9|.	PLCD3_HUMAN|.	V|S	684|57	ENSP00000313731:D684V|.	ENSP00000313731:D684V|.	D|T	-|-	2|1	0|0	PLCD3|PLCD3	40546093|40546093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.825000|7.825000	0.86693|0.86693	2.159000|2.159000	0.67721|0.67721	0.454000|0.454000	0.30748|0.30748	GAC|ACC	PLCD3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000161714		0.637	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		55	0.00	0	T	NM_133373		43190567	43190567	-1	no_errors	ENST00000322765	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	1.000	A
PLEKHB1	58473	genome.wustl.edu	37	11	73357670	73357670	+	Splice_Site	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:73357670C>G	ENST00000354190.5	+	1	448	c.17C>G	c.(16-18)cCg>cGg	p.P6R	PLEKHB1_ENST00000535129.1_5'Flank|PLEKHB1_ENST00000227214.6_5'Flank|PLEKHB1_ENST00000398492.4_Splice_Site_p.P6R|PLEKHB1_ENST00000543085.1_5'Flank|PLEKHB1_ENST00000398494.4_5'Flank	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	6					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CCTGCAGCCCCGGTAAGGAAG	0.617																																						dbGAP											0													15.0	18.0	17.0					11																	73357670		1726	3665	5391	-	-	-	SO:0001630	splice_region_variant	0			AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.18+1C>G	11.37:g.73357670C>G			A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P6R	ENST00000354190.5	37	c.17	CCDS44672.1	11	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530041	0.45073	.	.	ENSG00000021300	ENST00000354190;ENST00000398492	.	.	.	4.11	3.2	0.36748	.	.	.	.	.	T	0.45478	0.1344	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.985;0.997	T	0.29518	-1.0009	8	0.14656	T	0.56	0.6028	7.9632	0.30083	0.0:0.8899:0.0:0.1101	.	6;6	Q9UF11-2;Q9UF11	.;PKHB1_HUMAN	R	6	.	ENSP00000346127:P6R	P	+	2	0	PLEKHB1	73035318	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	3.018000	0.49625	1.327000	0.45338	-0.140000	0.14226	CCG	PLEKHB1	-	NULL	ENSG00000021300		0.617	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHB1	HGNC	protein_coding	OTTHUMT00000397593.1	65	0.00	0	C		Missense_Mutation	73357670	73357670	+1	no_errors	ENST00000354190	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	0.997	G
PLEKHH2	130271	genome.wustl.edu	37	2	43992708	43992708	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:43992708A>T	ENST00000282406.4	+	30	4563	c.4453A>T	c.(4453-4455)Aga>Tga	p.R1485*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1485					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTCAAGCAGCAGACCGACCAA	0.572																																						dbGAP											0													49.0	49.0	49.0					2																	43992708		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.4453A>T	2.37:g.43992708A>T	ENSP00000282406:p.Arg1485*		Q5JPJ6|Q6P4Q1|Q8N3Q3	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.R1485*	ENST00000282406.4	37	c.4453	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	A	43	10.441674	0.99406	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.37	4.15	0.48705	.	0.050354	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1487	12.0298	0.53392	0.8559:0.1441:0.0:0.0	.	.	.	.	X	1485	.	ENSP00000282406:R1485X	R	+	1	2	PLEKHH2	43846212	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	4.743000	0.62110	2.039000	0.60335	0.383000	0.25322	AGA	PLEKHH2	-	NULL	ENSG00000152527		0.572	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	100	0.00	0	A	NM_172069		43992708	43992708	+1	no_errors	ENST00000282406	ensembl	human	known	69_37n	nonsense	36	19.15	9	SNP	1.000	T
PLP1	5354	genome.wustl.edu	37	X	103041099	103041100	+	Intron	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:103041099_103041100insC	ENST00000303958.2	+	3	337				PLP1_ENST00000361621.2_Intron|PLP1_ENST00000418604.1_Intron	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1						astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CCCTACTCCTGTGAGTTAGCAT	0.55																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.192-294->C	X.37:g.103041099_103041100insC			P04400|P06905|Q502Y1|Q6FHZ6	Splice_Site	INS	-	NULL	ENST00000303958.2	37	c.NULL	CCDS14513.1	X																																																																																			PLP1	-	-	ENSG00000123560		0.550	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP1	HGNC	protein_coding	OTTHUMT00000057743.2	8	0.00	0	-			103041099	103041100	+1	no_errors	ENST00000461231	ensembl	human	known	69_37n	splice_site_ins	3	76.92	10	INS	0.039:0.011	C
PNPLA7	375775	genome.wustl.edu	37	9	140356142	140356142	+	Intron	DEL	G	G	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:140356142delG	ENST00000277531.4	-	32	3868				PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000371473.3_5'Flank|PNPLA7_ENST00000406427.1_Intron|PNPLA7_ENST00000371457.1_Intron|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000371472.2_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7						lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGCTTCCTGTGGGGAGGCCCC	0.682																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3682-70C>-	9.37:g.140356142delG			B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	RNA	DEL	-	NULL	ENST00000277531.4	37	NULL	CCDS7045.1	9																																																																																			PNPLA7	-	-	ENSG00000130653		0.682	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1	49	0.00	0	G	NM_152286		140356142	140356142	-1	no_errors	ENST00000492278	ensembl	human	known	69_37n	rna	8	66.67	16	DEL	0.000	-
PODN	127435	genome.wustl.edu	37	1	53542877	53542877	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:53542877C>G	ENST00000312553.5	+	6	748	c.741C>G	c.(739-741)caC>caG	p.H247Q	PODN_ENST00000395871.2_Intron|PODN_ENST00000371500.3_Missense_Mutation_p.H228Q|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	199					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGTACCTGCACAACAACAAGC	0.632																																						dbGAP											0													78.0	82.0	81.0					1																	53542877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.741C>G	1.37:g.53542877C>G	ENSP00000308315:p.His247Gln		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.H247Q	ENST00000312553.5	37	c.741	CCDS573.1	1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985479	0.53934	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.17691	3.66;2.26	5.11	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	N	0.11698	0.16	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.85130	0.997;0.835	T	0.06006	-1.0851	10	0.32370	T	0.25	.	7.4301	0.27122	0.0:0.6115:0.0:0.3885	.	228;247	Q7Z5L7-2;Q7Z5L7-3	.;.	Q	228;247	ENSP00000360555:H228Q;ENSP00000308315:H247Q	ENSP00000308315:H247Q	H	+	3	2	PODN	53315465	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.480000	0.22244	0.645000	0.30675	-0.345000	0.07892	CAC	PODN	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000174348		0.632	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	HGNC	protein_coding	OTTHUMT00000024735.1	29	0.00	0	C	NM_153703		53542877	53542877	+1	no_errors	ENST00000312553	ensembl	human	known	69_37n	missense	13	51.85	14	SNP	1.000	G
POLA1	5422	genome.wustl.edu	37	X	25014005	25014005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:25014005C>T	ENST00000379059.3	+	37	4342	c.4327C>T	c.(4327-4329)Cga>Tga	p.R1443*	POLA1_ENST00000379068.3_Nonsense_Mutation_p.R1449*	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1443					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	ATTCTTGTCCCGAAGTGGCTA	0.443																																						dbGAP											0													74.0	60.0	65.0					X																	25014005		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.4327C>T	X.37:g.25014005C>T	ENSP00000368349:p.Arg1443*		Q86UQ7	Nonsense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.R1449*	ENST00000379059.3	37	c.4345	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	C	40	8.229168	0.98717	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	.	.	.	5.42	-1.1	0.09872	.	1.129750	0.06573	N	0.748901	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.5988	1.9491	0.03363	0.2522:0.4062:0.0888:0.2529	.	.	.	.	X	1449;1443	.	ENSP00000368349:R1443X	R	+	1	2	POLA1	24923926	0.039000	0.19947	0.135000	0.22099	0.939000	0.58152	0.233000	0.17911	-0.099000	0.12263	0.523000	0.50628	CGA	POLA1	-	pfam_Znf_DNA-dir_DNA_pol_B_alpha	ENSG00000101868		0.443	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	214	0.00	0	C	NM_016937		25014005	25014005	+1	no_errors	ENST00000379068	ensembl	human	known	69_37n	nonsense	188	34.71	101	SNP	0.009	T
POLR3GL	84265	genome.wustl.edu	37	1	145457935	145457935	+	Splice_Site	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:145457935C>G	ENST00000369314.1	-	4	431	c.325G>C	c.(325-327)Gat>Cat	p.D109H	POLR3GL_ENST00000369313.3_Intron	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	109					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|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 initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCACCTACCAGGGTTCCAA	0.507																																						dbGAP											0													157.0	125.0	136.0					1																	145457935		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.325+1G>C	1.37:g.145457935C>G			B1MVG5	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc31	p.D109H	ENST00000369314.1	37	c.325	CCDS914.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732819	0.89482	.	.	ENSG00000121851	ENST00000369314	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.76335	0.3973	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77099	-0.2713	8	.	.	.	-27.8699	16.3224	0.82956	0.0:1.0:0.0:0.0	.	109	Q9BT43	RPC7L_HUMAN	H	109	.	.	D	-	1	0	POLR3GL	144169292	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.134000	0.71689	2.713000	0.92767	0.655000	0.94253	GAT	POLR3GL	-	pfam_RNA_pol_III_Rpc31	ENSG00000121851		0.507	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3GL	HGNC	protein_coding	OTTHUMT00000038510.1	152	0.00	0	C	NM_032305	Missense_Mutation	145457935	145457935	-1	no_errors	ENST00000369314	ensembl	human	known	69_37n	missense	279	35.86	156	SNP	1.000	G
PPFIA1	8500	genome.wustl.edu	37	11	70221193	70221193	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:70221193C>G	ENST00000253925.7	+	24	3524	c.3309C>G	c.(3307-3309)aaC>aaG	p.N1103K	AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.N1103K|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1103	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGACGCAGAACACACAGGTGA	0.448																																						dbGAP											0													59.0	50.0	53.0					11																	70221193		2200	4294	6494	-	-	-	SO:0001583	missense	0			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3309C>G	11.37:g.70221193C>G	ENSP00000253925:p.Asn1103Lys		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.N1103K	ENST00000253925.7	37	c.3309	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625356	0.66901	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	D;D	0.84070	-1.8;-1.8	5.61	2.69	0.31865	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.120250	0.53938	N	0.000049	D	0.85182	0.5638	L	0.45352	1.415	0.49130	D	0.999756	P;D;P	0.58620	0.842;0.983;0.951	P;D;P	0.64506	0.539;0.926;0.756	D	0.83854	0.0264	10	0.87932	D	0	.	10.0626	0.42284	0.0:0.7486:0.0:0.2514	.	600;1103;1103	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	K	1103;1103;600	ENSP00000253925:N1103K;ENSP00000374198:N1103K	ENSP00000253925:N1103K	N	+	3	2	PPFIA1	69898841	1.000000	0.71417	0.986000	0.45419	0.693000	0.40251	1.965000	0.40471	0.293000	0.22520	0.555000	0.69702	AAC	PPFIA1	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000131626		0.448	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	96	0.00	0	C	NM_003626		70221193	70221193	+1	no_errors	ENST00000253925	ensembl	human	known	69_37n	missense	58	68.65	127	SNP	1.000	G
PPP2R4	5524	genome.wustl.edu	37	9	131890307	131890307	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:131890307G>C	ENST00000337738.1	+	4	548	c.281G>C	c.(280-282)tGc>tCc	p.C94S	PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000355007.3_Intron|PPP2R4_ENST00000348141.5_Intron|PPP2R4_ENST00000452489.2_Missense_Mutation_p.C94S|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000358994.4_Intron|PPP2R4_ENST00000393370.2_Intron	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	94					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TGCGATGAATGCATACCATTA	0.448																																					Colon(158;2158 2504 4450 20433)	dbGAP											0													86.0	79.0	82.0					9																	131890307		2203	4299	6502	-	-	-	SO:0001583	missense	0			X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.281G>C	9.37:g.131890307G>C	ENSP00000337448:p.Cys94Ser		A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac	p.C94S	ENST00000337738.1	37	c.281		9	.	.	.	.	.	.	.	.	.	.	G	0.960	-0.703437	0.03255	.	.	ENSG00000119383	ENST00000455292;ENST00000337738;ENST00000452489;ENST00000445241;ENST00000414331	T;T;T;T	0.28454	1.63;2.06;1.61;1.64	1.84	-3.68	0.04463	.	7.285040	0.00644	U	0.000532	T	0.12390	0.0301	N	0.03050	-0.425	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.001	T	0.13926	-1.0491	10	0.27082	T	0.32	.	4.0943	0.09983	0.2971:0.0:0.4767:0.2262	.	94;94	B4DZF8;Q15257	.;PTPA_HUMAN	S	94;94;94;94;22	ENSP00000395499:C94S;ENSP00000337448:C94S;ENSP00000394338:C94S;ENSP00000406997:C94S	ENSP00000337448:C94S	C	+	2	0	PPP2R4	130930128	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.092000	0.01354	-2.266000	0.00687	-1.334000	0.01262	TGC	PPP2R4	-	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac	ENSG00000119383		0.448	PPP2R4-201	KNOWN	basic	protein_coding	PPP2R4	HGNC	protein_coding		201	0.00	0	G	NM_021131		131890307	131890307	+1	no_errors	ENST00000452489	ensembl	human	known	69_37n	missense	100	13.04	15	SNP	0.000	C
PPP2R5D	5528	genome.wustl.edu	37	6	42977150	42977150	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:42977150C>A	ENST00000485511.1	+	12	1521	c.1342C>A	c.(1342-1344)Cct>Act	p.P448T	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.P440T|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.P342T|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.P416T	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	448					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)			CATCATGTTCCCTGCACTCTA	0.542											OREG0017447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(63;587 1613 29742 31770)	dbGAP											0													101.0	98.0	99.0					6																	42977150		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.1342C>A	6.37:g.42977150C>A	ENSP00000417963:p.Pro448Thr	912	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.P448T	ENST00000485511.1	37	c.1342	CCDS4878.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.598876|4.598876	0.87055|0.87055	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000470467;ENST00000486843|ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010	.|T;T;T;T	.|0.50813	.|0.74;0.74;0.73;0.78	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Armadillo-type fold (1);	0.151184|0.151184	0.64402|0.64402	D|D	0.000010|0.000010	T|T	0.69486|0.69486	0.3116|0.3116	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	.|P;D;P;P	.|0.54047	.|0.819;0.964;0.943;0.929	.|P;P;P;P	.|0.61070	.|0.451;0.605;0.883;0.451	T|T	0.73065|0.73065	-0.4100|-0.4100	6|10	.|0.66056	.|D	.|0.02	-13.7453|-13.7453	20.5792|20.5792	0.99380|0.99380	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|342;430;448;416	.|Q14738-3;F5GYS1;Q14738;Q14738-2	.|.;.;2A5D_HUMAN;.	H|T	349;69|448;416;440;430;342	.|ENSP00000417963:P448T;ENSP00000377669:P416T;ENSP00000420550:P440T;ENSP00000420674:P342T	.|ENSP00000377669:P416T	P|P	+|+	2|1	0|0	PPP2R5D|PPP2R5D	43085128|43085128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.081000|6.081000	0.71309|0.71309	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CCC|CCT	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	84	0.00	0	C	NM_006245		42977150	42977150	+1	no_errors	ENST00000485511	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	1.000	A
PRDM15	63977	genome.wustl.edu	37	21	43274714	43274714	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr21:43274714C>G	ENST00000269844.3	-	12	1707	c.1597G>C	c.(1597-1599)Gac>Cac	p.D533H	PRDM15_ENST00000398548.1_Missense_Mutation_p.D204H|PRDM15_ENST00000447207.2_Missense_Mutation_p.D167H|PRDM15_ENST00000422911.1_Missense_Mutation_p.D204H|PRDM15_ENST00000538201.1_Missense_Mutation_p.D167H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ATGGGCTTGTCCATCTTCTTG	0.642																																						dbGAP											0													64.0	66.0	65.0					21																	43274714		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1597G>C	21.37:g.43274714C>G	ENSP00000269844:p.Asp533His		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D533H	ENST00000269844.3	37	c.1597	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967741	0.74131	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;3.12	4.85	4.85	0.62838	.	.	.	.	.	T	0.37679	0.1012	N	0.04880	-0.145	0.45914	D	0.998752	P;P;P	0.49961	0.93;0.761;0.802	P;B;B	0.48030	0.564;0.365;0.367	T	0.52343	-0.8588	9	0.87932	D	0	-16.2063	17.9673	0.89103	0.0:1.0:0.0:0.0	.	533;204;204	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	H	204;204;167;167;533;167	ENSP00000408592:D204H;ENSP00000381556:D204H;ENSP00000444044:D167H;ENSP00000390245:D167H;ENSP00000269844:D533H	ENSP00000269844:D533H	D	-	1	0	PRDM15	42147783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.519000	0.60517	2.228000	0.72767	0.561000	0.74099	GAC	PRDM15	-	NULL	ENSG00000141956		0.642	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		25	0.00	0	C	NM_022115		43274714	43274714	-1	no_errors	ENST00000269844	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	G
PREX2	80243	genome.wustl.edu	37	8	69002895	69002895	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:69002895A>C	ENST00000288368.4	+	20	2472	c.2195A>C	c.(2194-2196)cAt>cCt	p.H732P	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	732	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAGAGACACATGCCAGTGTC	0.473																																						dbGAP											0													123.0	106.0	112.0					8																	69002895		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2195A>C	8.37:g.69002895A>C	ENSP00000288368:p.His732Pro		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H732P	ENST00000288368.4	37	c.2195	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	A	26.8	4.776474	0.90195	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.31769	1.48	5.89	5.89	0.94794	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.47116	0.1428	M	0.64676	1.99	0.80722	D	1	D;P;P	0.57571	0.98;0.899;0.877	P;P;P	0.54706	0.759;0.734;0.721	T	0.42068	-0.9473	10	0.51188	T	0.08	.	16.307	0.82852	1.0:0.0:0.0:0.0	.	732;732;732	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	P	732	ENSP00000288368:H732P	ENSP00000288368:H732P	H	+	2	0	PREX2	69165449	1.000000	0.71417	0.932000	0.37286	0.986000	0.74619	9.017000	0.93651	2.250000	0.74265	0.477000	0.44152	CAT	PREX2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000046889		0.473	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	156	0.00	0	A	NM_025170		69002895	69002895	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	missense	103	10.43	12	SNP	1.000	C
PRKCG	5582	genome.wustl.edu	37	19	54401697	54401697	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:54401697A>C	ENST00000263431.3	+	11	1378	c.1096A>C	c.(1096-1098)Atg>Ctg	p.M366L	PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000540413.1_Missense_Mutation_p.M366L|PRKCG_ENST00000542049.1_Missense_Mutation_p.M253L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CGCATAGGTGATGCTGGCCGA	0.592																																						dbGAP											0													57.0	52.0	54.0					19																	54401697		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1096A>C	19.37:g.54401697A>C	ENSP00000263431:p.Met366Leu		B7Z8Q0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.M366L	ENST00000263431.3	37	c.1096	CCDS12867.1	19	.	.	.	.	.	.	.	.	.	.	A	13.76	2.332885	0.41297	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.22743	1.94;1.94;1.94	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.07908	0.0198	N	0.01003	-1.06	0.45899	D	0.998741	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.17433	0.001;0.007;0.018	T	0.29212	-1.0019	9	0.23891	T	0.37	.	13.0909	0.59166	1.0:0.0:0.0:0.0	.	253;366;366	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	L	366;366;253	ENSP00000443493:M366L;ENSP00000263431:M366L;ENSP00000438090:M253L	ENSP00000263431:M366L	M	+	1	0	PRKCG	59093509	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.616000	0.67709	2.044000	0.60594	0.459000	0.35465	ATG	PRKCG	-	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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom	ENSG00000126583		0.592	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3	28	0.00	0	A	NM_002739		54401697	54401697	+1	no_errors	ENST00000540413	ensembl	human	known	69_37n	missense	31	13.51	5	SNP	1.000	C
PRUNE	58497	genome.wustl.edu	37	1	150999788	150999788	+	Silent	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:150999788A>C	ENST00000271620.3	+	6	915	c.759A>C	c.(757-759)atA>atC	p.I253I	PRUNE_ENST00000368934.1_Silent_p.I71I|PRUNE_ENST00000368936.1_Silent_p.I71I|PRUNE_ENST00000368935.1_Silent_p.I21I|PRUNE_ENST00000368937.1_Silent_p.I71I|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000271619.8_Silent_p.I94I	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	253						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	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)			TTAGTGCAATATATATGGATT	0.473																																						dbGAP											0													182.0	155.0	164.0					1																	150999788		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.759A>C	1.37:g.150999788A>C			B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Silent	SNP	pfam_DHHA2,pfam_Pesterase_RecJ	p.I253	ENST00000271620.3	37	c.759	CCDS977.1	1																																																																																			PRUNE	-	pfam_DHHA2	ENSG00000143363		0.473	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRUNE	HGNC	protein_coding	OTTHUMT00000084885.1	440	0.23	1	A	NM_021222		150999788	150999788	+1	no_errors	ENST00000271620	ensembl	human	known	69_37n	silent	1259	36.51	724	SNP	0.941	C
PRRC2C	23215	genome.wustl.edu	37	1	171549011	171549011	+	Silent	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:171549011G>T	ENST00000338920.4	+	28	7548	c.7311G>T	c.(7309-7311)ctG>ctT	p.L2437L	PRRC2C_ENST00000426496.2_Silent_p.L2372L|PRRC2C_ENST00000367742.3_Silent_p.L2439L|PRRC2C_ENST00000392078.3_Silent_p.L2439L	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2437	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ATGCACCACTGCAAGGGCAGC	0.443																																						dbGAP											0													94.0	89.0	91.0					1																	171549011		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.7311G>T	1.37:g.171549011G>T			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	NULL	p.C920F	ENST00000338920.4	37	c.2759	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	9.073	0.997371	0.19043	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.5	0.399	0.16325	.	.	.	.	.	T	0.35856	0.0946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	.	5.284	0.15690	0.3262:0.0:0.5479:0.126	.	.	.	.	F	920	.	.	C	+	2	0	PRRC2C	169815635	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	0.837000	0.27558	0.402000	0.25451	0.313000	0.20887	TGC	PRRC2C	-	NULL	ENSG00000117523		0.443	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	226	0.00	0	G	NM_015172		171549011	171549011	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000495585	ensembl	human	novel	69_37n	missense	199	22.39	58	SNP	1.000	T
PSMA6	5687	genome.wustl.edu	37	14	35778201	35778201	+	Splice_Site	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:35778201G>T	ENST00000261479.4	+	3	373	c.253G>T	c.(253-255)Gct>Tct	p.A85S	PSMA6_ENST00000555764.1_Splice_Site_p.A6S|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Splice_Site_p.A66S|PSMA6_ENST00000553809.1_Splice_Site_p.A85S|PSMA6_ENST00000556506.1_Splice_Site_p.A85S	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	85					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 NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|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)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CGGAATGACAGGTAATTAATC	0.289																																						dbGAP											0													106.0	115.0	112.0					14																	35778201		2203	4294	6497	-	-	-	SO:0001630	splice_region_variant	0			X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.253+1G>T	14.37:g.35778201G>T			B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.A85S	ENST00000261479.4	37	c.253	CCDS9655.1	14	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148261	0.78001	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000555764;ENST00000556506	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	M	0.75264	2.295	0.80722	D	1	B	0.24963	0.115	P	0.48227	0.571	T	0.54268	-0.8319	10	0.51188	T	0.08	-0.008	20.1467	0.98079	0.0:0.0:1.0:0.0	.	85	P60900	PSA6_HUMAN	S	66;85;85;6;85	ENSP00000444844:A66S;ENSP00000261479:A85S;ENSP00000452603:A85S;ENSP00000452566:A6S;ENSP00000450528:A85S	ENSP00000261479:A85S	A	+	1	0	PSMA6	34847952	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.643000	0.98464	2.838000	0.97847	0.655000	0.94253	GCT	PSMA6	-	pfam_Proteasome_sua/b	ENSG00000100902		0.289	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSMA6	HGNC	protein_coding	OTTHUMT00000276684.1	184	0.00	0	G		Missense_Mutation	35778201	35778201	+1	no_errors	ENST00000261479	ensembl	human	known	69_37n	missense	184	20.00	46	SNP	1.000	T
PTDSS1	9791	genome.wustl.edu	37	8	97285557	97285557	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:97285557G>T	ENST00000517309.1	+	2	536	c.210G>T	c.(208-210)tgG>tgT	p.W70C	PTDSS1_ENST00000455950.2_5'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	70					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ACAACATCTGGAGAGGCATCC	0.368																																						dbGAP											0													150.0	141.0	144.0					8																	97285557		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.210G>T	8.37:g.97285557G>T	ENSP00000430548:p.Trp70Cys		E5RFC5|Q9BUQ5	Missense_Mutation	SNP	pfam_PSS	p.W70C	ENST00000517309.1	37	c.210	CCDS6271.1	8	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725971	0.69074	.	.	ENSG00000156471	ENST00000517309	T	0.44083	0.93	5.54	5.54	0.83059	.	0.124763	0.64402	D	0.000013	T	0.42291	0.1196	L	0.54323	1.7	0.80722	D	1	B	0.12630	0.006	B	0.15870	0.014	T	0.23797	-1.0178	10	0.56958	D	0.05	-10.4754	16.5155	0.84299	0.0:0.0:1.0:0.0	.	70	P48651	PTSS1_HUMAN	C	70	ENSP00000430548:W70C	ENSP00000337331:W70C	W	+	3	0	PTDSS1	97354733	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.298000	0.65710	2.884000	0.98904	0.655000	0.94253	TGG	PTDSS1	-	NULL	ENSG00000156471		0.368	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS1	HGNC	protein_coding	OTTHUMT00000379743.2	519	0.19	1	G			97285557	97285557	+1	no_errors	ENST00000517309	ensembl	human	known	69_37n	missense	883	18.99	207	SNP	1.000	T
PTPDC1	138639	genome.wustl.edu	37	9	96860178	96860178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:96860178delC	ENST00000375360.3	+	7	1508	c.1168delC	c.(1168-1170)cggfs	p.R390fs	PTPDC1_ENST00000288976.3_Frame_Shift_Del_p.R442fs	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	390					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TCTGAAAAGGCGGCTCAGCTA	0.512																																						dbGAP											0													58.0	61.0	60.0					9																	96860178		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1168delC	9.37:g.96860178delC	ENSP00000364509:p.Arg390fs		Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Frame_Shift_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.R390fs	ENST00000375360.3	37	c.1168	CCDS6707.1	9																																																																																			PTPDC1	-	NULL	ENSG00000158079		0.512	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPDC1	HGNC	protein_coding	OTTHUMT00000215007.1	107	0.00	0	C	NM_177995, NM_152422		96860178	96860178	+1	no_errors	ENST00000375360	ensembl	human	known	69_37n	frame_shift_del	72	35.14	39	DEL	0.355	-
PURB	5814	genome.wustl.edu	37	7	44924216	44924216	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:44924216A>C	ENST00000395699.2	-	1	744	c.732T>G	c.(730-732)ttT>ttG	p.F244L	RP4-673M15.1_ENST00000608450.1_RNA|MIR4657_ENST00000578157.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	244					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCACTCGCAGAAACACCCCGT	0.607																																						dbGAP											0													114.0	121.0	118.0					7																	44924216		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.732T>G	7.37:g.44924216A>C	ENSP00000379051:p.Phe244Leu		A4D2L7	Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.F244L	ENST00000395699.2	37	c.732	CCDS5499.1	7	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028154	0.75390	.	.	ENSG00000146676	ENST00000395699	T	0.40756	1.02	4.12	-2.29	0.06805	.	0.000000	0.85682	U	0.000000	T	0.62829	0.2460	M	0.88031	2.925	0.58432	D	0.999997	D	0.65815	0.995	D	0.77004	0.989	T	0.65681	-0.6109	10	0.87932	D	0	.	9.8873	0.41268	0.5244:0.0:0.4756:0.0	.	244	Q96QR8	PURB_HUMAN	L	244	ENSP00000379051:F244L	ENSP00000379051:F244L	F	-	3	2	PURB	44890741	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	0.764000	0.26532	-0.364000	0.08088	-0.353000	0.07706	TTT	PURB	-	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	ENSG00000146676		0.607	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PURB	HGNC	protein_coding	OTTHUMT00000251332.2	96	0.00	0	A	NM_033224		44924216	44924216	-1	no_errors	ENST00000395699	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	C
PXDN	7837	genome.wustl.edu	37	2	1639257	1639257	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:1639257A>C	ENST00000252804.4	-	22	4293	c.4243T>G	c.(4243-4245)Tgc>Ggc	p.C1415G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1415	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCATCCACGCACTCTGTGGTA	0.463																																						dbGAP											0													70.0	72.0	72.0					2																	1639257		1959	4159	6118	-	-	-	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4243T>G	2.37:g.1639257A>C	ENSP00000252804:p.Cys1415Gly		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.C1415G	ENST00000252804.4	37	c.4243	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419332	0.62622	.	.	ENSG00000130508	ENST00000252804	D	0.99388	-5.81	5.36	5.36	0.76844	von Willebrand factor, type C (2);	0.000000	0.85682	D	0.000000	D	0.99202	0.9723	M	0.89353	3.025	0.58432	D	0.999996	D	0.56287	0.975	P	0.52343	0.696	D	0.99029	1.0820	10	0.87932	D	0	-39.0735	14.6374	0.68699	1.0:0.0:0.0:0.0	.	1415	Q92626	PXDN_HUMAN	G	1415	ENSP00000252804:C1415G	ENSP00000252804:C1415G	C	-	1	0	PXDN	1618264	1.000000	0.71417	0.269000	0.24586	0.409000	0.31022	8.000000	0.88501	2.153000	0.67306	0.533000	0.62120	TGC	PXDN	-	smart_VWF_C,pfscan_VWF_C	ENSG00000130508		0.463	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	114	0.00	0	A	XM_056455		1639257	1639257	-1	no_errors	ENST00000252804	ensembl	human	known	69_37n	missense	26	35.00	14	SNP	1.000	C
PYGM	5837	genome.wustl.edu	37	11	64518794	64518794	+	Intron	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:64518794C>T	ENST00000164139.3	-	16	2368				PYGM_ENST00000377432.3_Intron|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCAGCACCCACCTTTCTCG	0.552																																						dbGAP											0													73.0	69.0	71.0					11																	64518794		2201	4297	6498	-	-	-	SO:0001627	intron_variant	0				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1969+2G>A	11.37:g.64518794C>T			A0AVK1|A6NDY6	RNA	SNP	-	NULL	ENST00000164139.3	37	NULL	CCDS8079.1	11																																																																																			PYGM	-	-	ENSG00000068976		0.552	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	108	0.00	0	C	NM_005609		64518794	64518794	-1	no_errors	ENST00000462303	ensembl	human	putative	69_37n	rna	28	43.40	23	SNP	0.804	T
QRICH1	54870	genome.wustl.edu	37	3	49067887	49067887	+	Nonstop_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:49067887A>G	ENST00000395443.2	-	10	2801	c.2329T>C	c.(2329-2331)Tga>Cga	p.*777R	QRICH1_ENST00000479449.1_5'Flank|QRICH1_ENST00000424300.1_Nonstop_Mutation_p.*777R|QRICH1_ENST00000357496.2_Nonstop_Mutation_p.*777R|IMPDH2_ENST00000326739.4_5'Flank|RP13-131K19.6_ENST00000607245.1_RNA	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	0						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAGGCATCTCAGTGCATAGTG	0.463																																						dbGAP											0													59.0	56.0	57.0					3																	49067887		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.2329T>C	3.37:g.49067887A>G	ENSP00000378830:p.*777Glyext*48		Q4G0F7|Q7L621|Q8TEA5	Nonstop_Mutation	SNP	pfam_DUF3504,superfamily_DEATH-like	p.*777R	ENST00000395443.2	37	c.2329	CCDS2787.1	3	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865992	0.71949	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6239	0.76833	1.0:0.0:0.0:0.0	.	.	.	.	R	777	.	.	X	-	1	0	QRICH1	49042891	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.433000	0.80362	2.105000	0.64084	0.533000	0.62120	TGA	QRICH1	-	NULL	ENSG00000198218		0.463	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRICH1	HGNC	protein_coding	OTTHUMT00000345669.1	107	0.00	0	A	NM_017730		49067887	49067887	-1	no_errors	ENST00000357496	ensembl	human	known	69_37n	nonstop	47	18.64	11	SNP	1.000	G
QARS	5859	genome.wustl.edu	37	3	49135513	49135513	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:49135513C>T	ENST00000306125.6	-	23	2526	c.2189G>A	c.(2188-2190)tGc>tAc	p.C730Y	QARS_ENST00000414533.1_Missense_Mutation_p.C719Y|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	730					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GGCCACAGAGCAGTCCACTAA	0.547																																						dbGAP											0													151.0	141.0	144.0					3																	49135513		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.2189G>A	3.37:g.49135513C>T	ENSP00000307567:p.Cys730Tyr		B4DWJ2	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib	p.C730Y	ENST00000306125.6	37	c.2189	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271930	0.23221	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.21734	1.99;1.99	5.73	3.94	0.45596	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.470846	0.24527	N	0.037753	T	0.19005	0.0456	L	0.29908	0.895	0.80722	D	1	B;B	0.26672	0.156;0.156	B;B	0.37888	0.26;0.26	T	0.06516	-1.0822	10	0.56958	D	0.05	-5.3435	7.6775	0.28494	0.0:0.7122:0.1437:0.1441	.	719;730	B4DWJ2;P47897	.;SYQ_HUMAN	Y	730;719	ENSP00000307567:C730Y;ENSP00000390015:C719Y	ENSP00000307567:C730Y	C	-	2	0	QARS	49110517	1.000000	0.71417	0.986000	0.45419	0.163000	0.22366	2.411000	0.44600	0.774000	0.33427	0.655000	0.94253	TGC	QARS	-	pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth_Ib	ENSG00000172053		0.547	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	168	0.00	0	C	NM_005051		49135513	49135513	-1	no_errors	ENST00000306125	ensembl	human	known	69_37n	missense	116	18.75	27	SNP	0.868	T
RAB11FIP5	26056	genome.wustl.edu	37	2	73303234	73303235	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:73303234_73303235insA	ENST00000258098.6	-	4	1884_1885	c.1644_1645insT	c.(1642-1647)ctgagcfs	p.S549fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	549					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AGGGCTATGCTCAGACTGGAGC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1644_1645insT	2.37:g.73303234_73303235insA	ENSP00000258098:p.Ser549fs		O94939|Q9P0M1	Frame_Shift_Ins	INS	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.S548fs	ENST00000258098.6	37	c.1645_1644	CCDS1923.1	2																																																																																			RAB11FIP5	-	NULL	ENSG00000135631		0.624	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	HGNC	protein_coding	OTTHUMT00000251995.1	68	0.00	0	-	NM_015470		73303234	73303235	-1	no_errors	ENST00000258098	ensembl	human	known	69_37n	frame_shift_ins	119	13.14	18	INS	1.000:1.000	A
RHD	6007	genome.wustl.edu	37	1	25599163	25599163	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:25599163A>T	ENST00000328664.4	+	1	280	c.125A>T	c.(124-126)aAg>aTg	p.K42M	RHD_ENST00000454452.2_Missense_Mutation_p.K42M|RHD_ENST00000423810.2_Missense_Mutation_p.K42M|RHD_ENST00000568195.1_Missense_Mutation_p.K42M|RHD_ENST00000342055.5_Missense_Mutation_p.K42M|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Missense_Mutation_p.K42M|RHD_ENST00000417538.2_Missense_Mutation_p.K42M	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	42						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGGATCAAAAGGGGCTCGTG	0.557																																						dbGAP											0													79.0	68.0	72.0					1																	25599163		2200	4289	6489	-	-	-	SO:0001583	missense	0			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.125A>T	1.37:g.25599163A>T	ENSP00000331871:p.Lys42Met		Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.K42M	ENST00000328664.4	37	c.125	CCDS262.1	1	.	.	.	.	.	.	.	.	.	.	a	13.18	2.159302	0.38119	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	3.5	0.907	0.19321	Ammonium transporter AmtB-like (3);	1.505710	0.03608	N	0.234398	T	0.55909	0.1950	M	0.63428	1.95	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	0.984;0.958;1.0;0.971;0.971;0.98;0.987;0.976	D;D;D;P;P;P;D;D	0.87578	0.926;0.928;0.998;0.895;0.895;0.456;0.95;0.928	T	0.21008	-1.0258	10	0.56958	D	0.05	-1.9301	5.7722	0.18259	0.7502:0.0:0.2498:0.0	.	42;42;42;42;42;42;42;42	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	M	42	ENSP00000331871:K42M;ENSP00000413849:K42M;ENSP00000339577:K42M;ENSP00000350150:K42M;ENSP00000396420:K42M;ENSP00000399640:K42M	ENSP00000331871:K42M	K	+	2	0	RHD	25471750	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.303000	0.19210	-0.045000	0.13468	0.433000	0.28618	AAG	RHD	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like	ENSG00000187010		0.557	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	HGNC	protein_coding	OTTHUMT00000009660.5	186	0.00	0	A	NM_016124		25599163	25599163	+1	no_errors	ENST00000328664	ensembl	human	known	69_37n	missense	78	20.41	20	SNP	0.001	T
RHCE	6006	genome.wustl.edu	37	1	25747153	25747153	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:25747153T>A	ENST00000294413.7	-	1	183	c.125A>T	c.(124-126)aAg>aTg	p.K42M	RHCE_ENST00000349320.3_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.K42M|RHCE_ENST00000425135.1_Missense_Mutation_p.K42M|RHCE_ENST00000455194.1_Missense_Mutation_p.K42M|RHCE_ENST00000413854.1_Missense_Mutation_p.K42M|RHCE_ENST00000349438.4_Missense_Mutation_p.K42M|RHCE_ENST00000340849.4_Missense_Mutation_p.K42M|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000346452.4_Missense_Mutation_p.K42M	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	42						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CACGAGCCCCTTTTGATCCTC	0.557																																						dbGAP											0													79.0	88.0	85.0					1																	25747153		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.125A>T	1.37:g.25747153T>A	ENSP00000294413:p.Lys42Met		A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.K42M	ENST00000294413.7	37	c.125	CCDS30635.1	1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328562	0.41197	.	.	ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000455194;ENST00000243186;ENST00000425135;ENST00000340849;ENST00000346452;ENST00000294413;ENST00000447203;ENST00000349438	T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	3.68	-1.34	0.09143	Ammonium transporter AmtB-like (3);	1.505710	0.03608	N	0.234398	T	0.57814	0.2079	M	0.76170	2.325	0.09310	N	1	D;D;D;D	0.76494	0.999;0.997;0.984;0.995	D;D;D;D	0.74674	0.984;0.984;0.926;0.964	T	0.48019	-0.9071	10	0.72032	D	0.01	-1.9301	7.2553	0.26173	0.0:0.4634:0.0:0.5366	.	42;42;42;42	E7EQ47;Q5VSJ7;Q5VSJ8;P18577	.;.;.;RHCE_HUMAN	M	42	ENSP00000415417:K42M;ENSP00000416275:K42M;ENSP00000243186:K42M;ENSP00000392809:K42M;ENSP00000345084:K42M;ENSP00000344485:K42M;ENSP00000294413:K42M;ENSP00000334570:K42M	ENSP00000243186:K42M	K	-	2	0	RHCE	25619740	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.181000	0.16880	-0.270000	0.09285	0.379000	0.24179	AAG	RHCE	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like	ENSG00000188672		0.557	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHCE	HGNC	protein_coding	OTTHUMT00000020312.2	285	0.00	0	T	NM_020485		25747153	25747153	-1	no_errors	ENST00000294413	ensembl	human	known	69_37n	missense	147	37.55	89	SNP	0.000	A
RGS2	5997	genome.wustl.edu	37	1	192778171	192778171	+	5'UTR	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:192778171A>G	ENST00000235382.5	+	0	1				RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2						brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCCAGCCGCAAACAGCCGGG	0.647																																					Pancreas(71;51 2183 4981)	dbGAP											0													54.0	54.0	54.0					1																	192778171		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.-31A>G	1.37:g.192778171A>G			Q6I9U5	RNA	SNP	-	NULL	ENST00000235382.5	37	NULL	CCDS1377.1	1																																																																																			RGS2	-	-	ENSG00000116741		0.647	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS2	HGNC	protein_coding	OTTHUMT00000086396.1	63	0.00	0	A	NM_002923		192778171	192778171	+1	no_errors	ENST00000483295	ensembl	human	known	69_37n	rna	66	79.70	263	SNP	0.000	G
RIPK3	11035	genome.wustl.edu	37	14	24806313	24806313	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:24806313A>T	ENST00000216274.5	-	8	1472	c.1254T>A	c.(1252-1254)agT>agA	p.S418R	ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_5'Flank|ADCY4_ENST00000310677.4_5'Flank|ADCY4_ENST00000418030.2_5'Flank|RIPK3_ENST00000554338.1_5'Flank|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.S92R|ADCY4_ENST00000554068.2_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	418	Pro-rich.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GGGGTCCAGGACTTGGTGTTC	0.532																																					Pancreas(58;918 1191 4668 13304 15331)	dbGAP											0													92.0	86.0	88.0					14																	24806313		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.1254T>A	14.37:g.24806313A>T	ENSP00000216274:p.Ser418Arg		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	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.S418R	ENST00000216274.5	37	c.1254	CCDS9628.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.59|15.59	2.879136|2.879136	0.51801|0.51801	.|.	.|.	ENSG00000258973;ENSG00000129465|ENSG00000129465	ENST00000555591;ENST00000216274|ENST00000554569	T|.	0.42513|.	0.97|.	4.58|4.58	-0.561|-0.561	0.11785|0.11785	.|.	0.860513|.	0.10081|.	N|.	0.718458|.	T|T	0.16557|0.16557	0.0398|0.0398	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.17268|.	0.021;0.009|.	B;B|.	0.16289|.	0.015;0.014|.	T|T	0.23655|0.23655	-1.0182|-1.0182	10|5	0.56958|.	D|.	0.05|.	-1.6475|-1.6475	2.4504|2.4504	0.04517|0.04517	0.4458:0.0:0.199:0.3551|0.4458:0.0:0.199:0.3551	.|.	92;418|.	G3V2L1;Q9Y572|.	.;RIPK3_HUMAN|.	R|D	92;418|99	ENSP00000216274:S418R|.	ENSP00000216274:S418R|.	S|V	-|-	3|2	2|0	RIPK3;RP11-934B9.3|RIPK3	23876153|23876153	0.002000|0.002000	0.14202|0.14202	0.011000|0.011000	0.14972|0.14972	0.049000|0.049000	0.14656|0.14656	-0.031000|-0.031000	0.12287|0.12287	-0.088000|-0.088000	0.12506|0.12506	0.533000|0.533000	0.62120|0.62120	AGT|GTC	RIPK3	-	NULL	ENSG00000129465		0.532	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK3	HGNC	protein_coding	OTTHUMT00000073203.4	379	0.00	0	A	NM_006871		24806313	24806313	-1	no_errors	ENST00000216274	ensembl	human	known	69_37n	missense	293	14.53	50	SNP	0.013	T
RNF213	57674	genome.wustl.edu	37	17	78318965	78318965	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:78318965delA	ENST00000582970.1	+	29	6973	c.6830delA	c.(6829-6831)cacfs	p.H2277fs	RNF213_ENST00000508628.2_Frame_Shift_Del_p.H2326fs|RNF213_ENST00000336301.6_Frame_Shift_Del_p.H350fs	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2277					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGGGGAAGCACATGGTCACC	0.532																																						dbGAP											0													96.0	97.0	97.0					17																	78318965		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6830delA	17.37:g.78318965delA	ENSP00000464087:p.His2277fs		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Del	DEL	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.H2277fs	ENST00000582970.1	37	c.6830	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	172	0.00	0	A	NM_020914		78318965	78318965	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	frame_shift_del	102	11.21	13	DEL	0.001	-
RNF213	57674	genome.wustl.edu	37	17	78318967	78318967	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:78318967A>C	ENST00000582970.1	+	29	6975	c.6832A>C	c.(6832-6834)Atg>Ctg	p.M2278L	RNF213_ENST00000508628.2_Missense_Mutation_p.M2327L|RNF213_ENST00000336301.6_Missense_Mutation_p.M351L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2278					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGGAAGCACATGGTCACCAT	0.532																																						dbGAP											0													97.0	97.0	97.0					17																	78318967		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6832A>C	17.37:g.78318967A>C	ENSP00000464087:p.Met2278Leu		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.M2278L	ENST00000582970.1	37	c.6832	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	A	9.500	1.102914	0.20632	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.20463	2.07	5.82	-11.6	0.00059	.	2.389650	0.01163	N	0.006680	T	0.11196	0.0273	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20874	-1.0262	10	0.10111	T	0.7	.	3.6084	0.08052	0.1634:0.207:0.4306:0.199	.	351	Q63HN8	RN213_HUMAN	L	2278;2327;351	ENSP00000338218:M351L	ENSP00000338218:M351L	M	+	1	0	RNF213	75933562	0.000000	0.05858	0.000000	0.03702	0.500000	0.33767	-4.801000	0.00184	-2.768000	0.00366	0.460000	0.39030	ATG	RNF213	-	NULL	ENSG00000173821		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	172	0.00	0	A	NM_020914		78318967	78318967	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	105	11.76	14	SNP	0.000	C
ROGDI	79641	genome.wustl.edu	37	16	4848160	4848160	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:4848160G>T	ENST00000322048.7	-	8	935	c.557C>A	c.(556-558)tCc>tAc	p.S186Y	RP11-127I20.5_ENST00000592465.1_RNA|ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	186					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						CAGCAGGTCGGACGGCAGGGC	0.652																																						dbGAP											0													70.0	53.0	59.0					16																	4848160		2196	4300	6496	-	-	-	SO:0001583	missense	0			AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.557C>A	16.37:g.4848160G>T	ENSP00000322832:p.Ser186Tyr		Q6IA00	Missense_Mutation	SNP	NULL	p.S186Y	ENST00000322048.7	37	c.557	CCDS10523.1	16	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256901	0.22965	.	.	ENSG00000067836	ENST00000322048	T	0.45276	0.9	4.66	3.67	0.42095	.	0.273571	0.34268	N	0.004114	T	0.32194	0.0821	N	0.24115	0.695	0.09310	N	1	P	0.37573	0.6	B	0.39119	0.291	T	0.18967	-1.0320	10	0.59425	D	0.04	-2.0869	13.491	0.61395	0.0:0.1586:0.8414:0.0	.	186	Q9GZN7	ROGDI_HUMAN	Y	186	ENSP00000322832:S186Y	ENSP00000322832:S186Y	S	-	2	0	ROGDI	4788161	0.915000	0.31059	0.502000	0.27614	0.216000	0.24613	5.602000	0.67612	0.912000	0.36772	0.491000	0.48974	TCC	ROGDI	-	NULL	ENSG00000067836		0.652	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROGDI	HGNC	protein_coding	OTTHUMT00000251643.3	67	0.00	0	G	NM_024589		4848160	4848160	-1	no_errors	ENST00000322048	ensembl	human	known	69_37n	missense	14	53.33	16	SNP	0.044	T
RPRD2	23248	genome.wustl.edu	37	1	150443698	150443698	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:150443698C>T	ENST00000369068.4	+	11	2278	c.2274C>T	c.(2272-2274)agC>agT	p.S758S	RPRD2_ENST00000401000.4_Silent_p.S732S|RPRD2_ENST00000539519.1_Silent_p.S732S|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	758	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGATCATTAGCCCTGGTTCCT	0.517																																						dbGAP											0													89.0	91.0	90.0					1																	150443698		1998	4168	6166	-	-	-	SO:0001819	synonymous_variant	0			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2274C>T	1.37:g.150443698C>T			A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.S758	ENST00000369068.4	37	c.2274	CCDS44216.1	1																																																																																			RPRD2	-	NULL	ENSG00000163125		0.517	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	128	0.00	0	C	NM_015203		150443698	150443698	+1	no_errors	ENST00000369068	ensembl	human	known	69_37n	silent	272	19.05	64	SNP	1.000	T
RTP2	344892	genome.wustl.edu	37	3	187419769	187419769	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:187419769G>C	ENST00000358241.1	-	1	576	c.148C>G	c.(148-150)Cag>Gag	p.Q50E	RP11-211G3.3_ENST00000437407.1_5'Flank|RP11-211G3.3_ENST00000449623.1_5'Flank	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	50					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.Q50K(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GAGGCGTGCTGCTCCAGGTAC	0.617																																						dbGAP											1	Substitution - Missense(1)	lung(1)											101.0	105.0	103.0					3																	187419769		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.148C>G	3.37:g.187419769G>C	ENSP00000350976:p.Gln50Glu		Q6NVH4	Missense_Mutation	SNP	NULL	p.Q50E	ENST00000358241.1	37	c.148	CCDS33911.1	3	.	.	.	.	.	.	.	.	.	.	g	11.95	1.792124	0.31685	.	.	ENSG00000198471	ENST00000358241	T	0.13657	2.57	4.61	3.74	0.42951	.	0.499434	0.22592	N	0.058061	T	0.08980	0.0222	N	0.22421	0.69	0.22693	N	0.998845	B	0.32543	0.375	B	0.28553	0.091	T	0.22556	-1.0213	10	0.48119	T	0.1	-19.9169	10.4734	0.44650	0.0:0.0:0.8063:0.1937	.	50	Q5QGT7	RTP2_HUMAN	E	50	ENSP00000350976:Q50E	ENSP00000350976:Q50E	Q	-	1	0	RTP2	188902463	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.466000	0.45084	1.559000	0.49555	-0.127000	0.14921	CAG	RTP2	-	NULL	ENSG00000198471		0.617	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP2	HGNC	protein_coding	OTTHUMT00000344259.1	88	0.00	0	G	NM_001004312		187419769	187419769	-1	no_errors	ENST00000358241	ensembl	human	known	69_37n	missense	48	55.56	60	SNP	1.000	C
RYR1	6261	genome.wustl.edu	37	19	38985160	38985160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:38985160delC	ENST00000359596.3	+	39	6443	c.6443delC	c.(6442-6444)tccfs	p.S2148fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.S2148fs|RYR1_ENST00000355481.4_Frame_Shift_Del_p.S2148fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2148	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)	TCACCGTCCTCCGTGGAAGAC	0.662																																						dbGAP											0													68.0	61.0	64.0					19																	38985160		2203	4300	6503	-	-	-	SO:0001589	frameshift_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.6443delC	19.37:g.38985160delC	ENSP00000352608:p.Ser2148fs		Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Del	DEL	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.V2149fs	ENST00000359596.3	37	c.6443	CCDS33011.1	19																																																																																			RYR1	-	NULL	ENSG00000196218		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	31	0.00	0	C			38985160	38985160	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	frame_shift_del	71	31.07	32	DEL	1.000	-
RYR3	6263	genome.wustl.edu	37	15	33990151	33990151	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr15:33990151C>T	ENST00000389232.4	+	40	6273	c.6203C>T	c.(6202-6204)aCg>aTg	p.T2068M	RYR3_ENST00000415757.3_Missense_Mutation_p.T2068M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2068	4 X approximate repeats.				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)		ATGCACGAGACGGTGATGGAG	0.488																																						dbGAP											0													191.0	185.0	187.0					15																	33990151		2086	4245	6331	-	-	-	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.6203C>T	15.37:g.33990151C>T	ENSP00000373884:p.Thr2068Met		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.T2068M	ENST00000389232.4	37	c.6203	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646653	0.67358	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95342	-3.68;-3.68	5.0	5.0	0.66597	Intracellular calcium-release channel (1);	0.056920	0.64402	D	0.000001	D	0.96457	0.8844	M	0.69823	2.125	0.80722	D	1	D;D	0.71674	0.998;0.986	P;P	0.60541	0.866;0.876	D	0.96750	0.9553	10	0.87932	D	0	.	17.8165	0.88635	0.0:1.0:0.0:0.0	.	2068;2068	Q15413-2;Q15413	.;RYR3_HUMAN	M	2068	ENSP00000373884:T2068M;ENSP00000399610:T2068M	ENSP00000354735:T2068M	T	+	2	0	RYR3	31777443	1.000000	0.71417	0.965000	0.40720	0.997000	0.91878	7.573000	0.82421	2.753000	0.94483	0.655000	0.94253	ACG	RYR3	-	pfam_Ca-rel_channel	ENSG00000198838		0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	501	0.00	0	C			33990151	33990151	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	118	75.00	354	SNP	1.000	T
SAMM50	25813	genome.wustl.edu	37	22	44379821	44379821	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:44379821T>A	ENST00000350028.4	+	12	1173	c.1016T>A	c.(1015-1017)cTt>cAt	p.L339H	SAMM50_ENST00000396202.3_Missense_Mutation_p.L129H	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	339					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGGTTTTACCTTGGGGGACCC	0.552																																						dbGAP											0													171.0	156.0	161.0					22																	44379821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1016T>A	22.37:g.44379821T>A	ENSP00000345445:p.Leu339His		Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	pfam_Bac_surfAg_D15	p.L339H	ENST00000350028.4	37	c.1016	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964003	0.53507	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.51071	0.72;0.72	5.04	5.04	0.67666	Bacterial surface antigen (D15) (1);	0.000000	0.64402	D	0.000001	T	0.72095	0.3418	M	0.89601	3.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75266	-0.3378	10	0.36615	T	0.2	-24.0934	12.7916	0.57537	0.0:0.0:0.0:1.0	.	144;339	B3KUE6;Q9Y512	.;SAM50_HUMAN	H	339;129	ENSP00000345445:L339H;ENSP00000379505:L129H	ENSP00000345445:L339H	L	+	2	0	SAMM50	42711154	1.000000	0.71417	0.934000	0.37439	0.009000	0.06853	7.138000	0.77305	2.012000	0.59069	0.528000	0.53228	CTT	SAMM50	-	pfam_Bac_surfAg_D15	ENSG00000100347		0.552	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2	211	0.00	0	T	NM_015380		44379821	44379821	+1	no_errors	ENST00000350028	ensembl	human	known	69_37n	missense	186	11.68	25	SNP	0.997	A
SDK1	221935	genome.wustl.edu	37	7	4116674	4116674	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:4116674C>G	ENST00000404826.2	+	21	3194	c.3055C>G	c.(3055-3057)Ctc>Gtc	p.L1019V	SDK1_ENST00000389531.3_Missense_Mutation_p.L1019V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1019	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L1019F(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGACTCTCGTCTCACGCACAC	0.572																																						dbGAP											1	Substitution - Missense(1)	lung(1)											157.0	120.0	132.0					7																	4116674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3055C>G	7.37:g.4116674C>G	ENSP00000385899:p.Leu1019Val		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L1019V	ENST00000404826.2	37	c.3055	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.490468	0.01018	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56275	0.47;0.47	5.37	1.41	0.22369	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.211314	0.31809	N	0.007040	T	0.26666	0.0652	N	0.02379	-0.575	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.10450	0.003;0.005	T	0.19418	-1.0306	10	0.44086	T	0.13	.	13.1659	0.59571	0.12:0.415:0.465:0.0	.	1019;1019	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	V	1019	ENSP00000385899:L1019V;ENSP00000374182:L1019V	ENSP00000374182:L1019V	L	+	1	0	SDK1	4083200	0.973000	0.33851	0.000000	0.03702	0.042000	0.13812	2.143000	0.42187	-0.023000	0.13963	0.650000	0.86243	CTC	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	171	0.00	0	C	NM_152744		4116674	4116674	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	104	28.28	41	SNP	0.007	G
SEPT9	10801	genome.wustl.edu	37	17	75483509	75483509	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:75483509A>T	ENST00000427177.1	+	5	1043	c.917A>T	c.(916-918)cAg>cTg	p.Q306L	SEPT9_ENST00000541152.2_Missense_Mutation_p.Q55L|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000592951.1_Missense_Mutation_p.Q55L|SEPT9_ENST00000427180.1_Missense_Mutation_p.Q194L|SEPT9_ENST00000588690.1_Missense_Mutation_p.Q142L|SEPT9_ENST00000585930.1_Missense_Mutation_p.Q82L|SEPT9_ENST00000590917.1_Splice_Site|SEPT9_ENST00000423034.2_Missense_Mutation_p.Q299L|SEPT9_ENST00000591198.1_Missense_Mutation_p.Q287L|SEPT9_ENST00000329047.8_Missense_Mutation_p.Q288L|SEPT9_ENST00000590294.1_Missense_Mutation_p.Q288L|SEPT9_ENST00000449803.2_Missense_Mutation_p.Q142L|SEPT9_ENST00000431235.2_Missense_Mutation_p.Q142L|SEPT9_ENST00000427674.2_Missense_Mutation_p.Q142L|SEPT9_ENST00000591088.1_Missense_Mutation_p.Q55L	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	306	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TCCCCAGGGCAGAGCGGCTTG	0.622																																						dbGAP											0													34.0	36.0	35.0					17																	75483509		1975	4145	6120	-	-	-	SO:0001583	missense	0			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.917A>T	17.37:g.75483509A>T	ENSP00000391249:p.Gln306Leu		A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Splice_Site	SNP	-	e2-2	ENST00000427177.1	37	c.161-2	CCDS45790.1	17	.	.	.	.	.	.	.	.	.	.	a	25.3	4.624179	0.87560	.	.	ENSG00000184640	ENST00000427177;ENST00000397613;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	M	0.73319	2.225	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;0.996;0.864;0.967;0.967;0.973	D;D;P;P;P;D	0.87578	0.998;0.99;0.79;0.879;0.879;0.926	T	0.72187	-0.4366	10	0.87932	D	0	.	14.8777	0.70507	1.0:0.0:0.0:0.0	.	82;287;194;299;288;306	Q9UHD8-9;Q9UHD8-7;Q9UHD8-8;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;.;SEPT9_HUMAN	L	306;55;142;288;299;142;82;55;194	ENSP00000391249:Q306L;ENSP00000400181:Q142L;ENSP00000329161:Q288L;ENSP00000405877:Q299L;ENSP00000403194:Q142L;ENSP00000415624:Q194L	ENSP00000329161:Q288L	Q	+	2	0	SEPT9	72995104	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.298000	0.78815	1.969000	0.57287	0.441000	0.28932	CAG	SEPT9	-	-	ENSG00000184640		0.622	SEPT9-001	KNOWN	basic|CCDS	protein_coding	SEPT9	HGNC	protein_coding	OTTHUMT00000436304.2	92	0.00	0	A	NM_006640		75483509	75483509	+1	no_errors	ENST00000590917	ensembl	human	putative	69_37n	splice_site	36	18.18	8	SNP	1.000	T
SEPT9	10801	genome.wustl.edu	37	17	75483511	75483511	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:75483511A>G	ENST00000427177.1	+	5	1045	c.919A>G	c.(919-921)Agc>Ggc	p.S307G	SEPT9_ENST00000541152.2_Missense_Mutation_p.S56G|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000592951.1_Missense_Mutation_p.S56G|SEPT9_ENST00000427180.1_Missense_Mutation_p.S195G|SEPT9_ENST00000588690.1_Missense_Mutation_p.S143G|SEPT9_ENST00000585930.1_Missense_Mutation_p.S83G|SEPT9_ENST00000590917.1_Splice_Site_p.E54G|SEPT9_ENST00000423034.2_Missense_Mutation_p.S300G|SEPT9_ENST00000591198.1_Missense_Mutation_p.S288G|SEPT9_ENST00000329047.8_Missense_Mutation_p.S289G|SEPT9_ENST00000590294.1_Missense_Mutation_p.S289G|SEPT9_ENST00000449803.2_Missense_Mutation_p.S143G|SEPT9_ENST00000431235.2_Missense_Mutation_p.S143G|SEPT9_ENST00000427674.2_Missense_Mutation_p.S143G|SEPT9_ENST00000591088.1_Missense_Mutation_p.S56G	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	307	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CCCAGGGCAGAGCGGCTTGGG	0.617																																						dbGAP											0													34.0	37.0	36.0					17																	75483511		1977	4149	6126	-	-	-	SO:0001583	missense	0			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.919A>G	17.37:g.75483511A>G	ENSP00000391249:p.Ser307Gly		A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1	p.S307G	ENST00000427177.1	37	c.919	CCDS45790.1	17	.	.	.	.	.	.	.	.	.	.	a	21.6	4.177361	0.78564	.	.	ENSG00000184640	ENST00000427177;ENST00000397613;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	4.9	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	M	0.93420	3.415	0.58432	D	0.999993	D;D;D;D;D;D	0.76494	0.999;0.998;0.993;0.997;0.997;0.997	D;D;D;D;D;D	0.85130	0.997;0.987;0.979;0.979;0.979;0.988	T	0.72609	-0.4241	10	0.87932	D	0	.	10.4823	0.44700	0.9228:0.0:0.0772:0.0	.	83;288;195;300;289;307	Q9UHD8-9;Q9UHD8-7;Q9UHD8-8;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;.;SEPT9_HUMAN	G	307;56;143;289;300;143;83;56;195	ENSP00000391249:S307G;ENSP00000400181:S143G;ENSP00000329161:S289G;ENSP00000405877:S300G;ENSP00000403194:S143G;ENSP00000415624:S195G	ENSP00000329161:S289G	S	+	1	0	SEPT9	72995106	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	9.276000	0.95745	0.835000	0.34877	0.441000	0.28932	AGC	SEPT9	-	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1	ENSG00000184640		0.617	SEPT9-001	KNOWN	basic|CCDS	protein_coding	SEPT9	HGNC	protein_coding	OTTHUMT00000436304.2	91	0.00	0	A	NM_006640		75483511	75483511	+1	no_errors	ENST00000427177	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	G
SEPT9	10801	genome.wustl.edu	37	17	75483513	75483513	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:75483513C>G	ENST00000427177.1	+	5	1047	c.921C>G	c.(919-921)agC>agG	p.S307R	SEPT9_ENST00000541152.2_Missense_Mutation_p.S56R|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000592951.1_Missense_Mutation_p.S56R|SEPT9_ENST00000427180.1_Missense_Mutation_p.S195R|SEPT9_ENST00000588690.1_Missense_Mutation_p.S143R|SEPT9_ENST00000585930.1_Missense_Mutation_p.S83R|SEPT9_ENST00000590917.1_Missense_Mutation_p.R55G|SEPT9_ENST00000423034.2_Missense_Mutation_p.S300R|SEPT9_ENST00000591198.1_Missense_Mutation_p.S288R|SEPT9_ENST00000329047.8_Missense_Mutation_p.S289R|SEPT9_ENST00000590294.1_Missense_Mutation_p.S289R|SEPT9_ENST00000449803.2_Missense_Mutation_p.S143R|SEPT9_ENST00000431235.2_Missense_Mutation_p.S143R|SEPT9_ENST00000427674.2_Missense_Mutation_p.S143R|SEPT9_ENST00000591088.1_Missense_Mutation_p.S56R	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	307	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CAGGGCAGAGCGGCTTGGGTA	0.622																																						dbGAP											0													35.0	38.0	37.0					17																	75483513		1977	4151	6128	-	-	-	SO:0001583	missense	0			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.921C>G	17.37:g.75483513C>G	ENSP00000391249:p.Ser307Arg		A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1	p.S307R	ENST00000427177.1	37	c.921	CCDS45790.1	17	.	.	.	.	.	.	.	.	.	.	c	17.46	3.396215	0.62177	.	.	ENSG00000184640	ENST00000427177;ENST00000397613;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	4.9	-6.22	0.02058	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.84846	2.72	0.46927	D	0.999255	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.997;0.997;0.997;0.998	T	0.69198	-0.5208	10	0.87932	D	0	.	16.288	0.82732	0.0:0.3068:0.0:0.6932	.	83;288;195;300;289;307	Q9UHD8-9;Q9UHD8-7;Q9UHD8-8;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;.;SEPT9_HUMAN	R	307;56;143;289;300;143;83;56;195	ENSP00000391249:S307R;ENSP00000400181:S143R;ENSP00000329161:S289R;ENSP00000405877:S300R;ENSP00000403194:S143R;ENSP00000415624:S195R	ENSP00000329161:S289R	S	+	3	2	SEPT9	72995108	0.000000	0.05858	0.914000	0.36105	0.891000	0.51852	-2.386000	0.01061	-1.069000	0.03153	-0.284000	0.09977	AGC	SEPT9	-	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1	ENSG00000184640		0.622	SEPT9-001	KNOWN	basic|CCDS	protein_coding	SEPT9	HGNC	protein_coding	OTTHUMT00000436304.2	92	0.00	0	C	NM_006640		75483513	75483513	+1	no_errors	ENST00000427177	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	0.552	G
SETD1B	23067	genome.wustl.edu	37	12	122242657	122242658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:122242657_122242658insC	ENST00000604567.1	+	2	82_83	c.14_15insC	c.(13-18)caccccfs	p.HP5fs	RHOF_ENST00000545544.1_5'Flank|SETD1B_ENST00000542440.1_Frame_Shift_Ins_p.HP5fs|RP11-347I19.8_ENST00000609067.1_lincRNA|SETD1B_ENST00000267197.5_Frame_Shift_Ins_p.HP5fs			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	5					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H8fs*27(2)		NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						GAGAACAGTCACCCCCCCCACC	0.629																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)								9,1819		1,7,906						1.9	1.0			42	13,3745		3,7,1869	no	frameshift	SETD1B	NM_015048.1		4,14,2775	A1A1,A1R,RR		0.3459,0.4923,0.3938				22,5564				-	-	-	SO:0001589	frameshift_variant	0			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.22dupC	12.37:g.122242665_122242665dupC	ENSP00000474253:p.His5fs		F6MFW1	Frame_Shift_Ins	INS	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.H8fs	ENST00000604567.1	37	c.14_15		12																																																																																			SETD1B	-	NULL	ENSG00000139718		0.629	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1	50	0.00	0	-	XM_037523		122242657	122242658	+1	no_errors	ENST00000267197	ensembl	human	known	69_37n	frame_shift_ins	26	10.34	3	INS	1.000:1.000	C
SGCG	6445	genome.wustl.edu	37	13	23898666	23898666	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr13:23898666C>T	ENST00000218867.3	+	8	986	c.862C>T	c.(862-864)Cac>Tac	p.H288Y	SGCG_ENST00000545013.1_Missense_Mutation_p.H288Y|SGCG_ENST00000537476.1_Missense_Mutation_p.H288Y	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	288					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)		GGAGCACAACCACATCTGCCT	0.602																																						dbGAP											0													80.0	60.0	67.0					13																	23898666		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.862C>T	13.37:g.23898666C>T	ENSP00000218867:p.His288Tyr		Q32M32|Q5T9J6	Missense_Mutation	SNP	pfam_Sarcoglycan	p.H288Y	ENST00000218867.3	37	c.862	CCDS9299.1	13	.	.	.	.	.	.	.	.	.	.	C	9.037	0.988744	0.18966	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.85861	-2.04;-2.04;-2.04	5.41	3.44	0.39384	.	0.746076	0.13902	N	0.354832	D	0.82742	0.5103	L	0.57536	1.79	0.09310	N	0.999999	B	0.27068	0.167	B	0.25614	0.062	T	0.75892	-0.3157	10	0.72032	D	0.01	-6.16	13.3061	0.60352	0.1324:0.7533:0.1143:0.0	.	288	Q13326	SGCG_HUMAN	Y	288	ENSP00000218867:H288Y;ENSP00000444100:H288Y;ENSP00000442232:H288Y	ENSP00000218867:H288Y	H	+	1	0	SGCG	22796666	0.014000	0.17966	0.043000	0.18650	0.148000	0.21650	2.350000	0.44063	1.250000	0.43966	0.650000	0.86243	CAC	SGCG	-	NULL	ENSG00000102683		0.602	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	64	0.00	0	C	NM_000231		23898666	23898666	+1	no_errors	ENST00000218867	ensembl	human	known	69_37n	missense	34	17.07	7	SNP	0.239	T
SH2D3C	10044	genome.wustl.edu	37	9	130509542	130509542	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:130509542A>G	ENST00000314830.8	-	6	1261	c.1148T>C	c.(1147-1149)cTg>cCg	p.L383P	SH2D3C_ENST00000420366.1_Missense_Mutation_p.L225P|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L226P|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L223P|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L315P|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L29P	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	383					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGGCGGGGCAGCGACGTACT	0.657																																						dbGAP											0													66.0	54.0	58.0					9																	130509542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1148T>C	9.37:g.130509542A>G	ENSP00000317817:p.Leu383Pro		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.L383P	ENST00000314830.8	37	c.1148	CCDS6877.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.503|9.503	1.103657|1.103657	0.20632|0.20632	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000440630|ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.|T;T;T;T;T;T	.|0.24908	.|2.64;2.62;2.37;2.64;1.83;2.6	5.34|5.34	2.93|2.93	0.34026|0.34026	.|.	.|0.650618	.|0.15776	.|N	.|0.245169	T|T	0.24699|0.24699	0.0599|0.0599	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999996|0.999996	.|B;B;B;B;B	.|0.23185	.|0.008;0.081;0.067;0.01;0.013	.|B;B;B;B;B	.|0.18263	.|0.007;0.017;0.021;0.016;0.009	T|T	0.03000|0.03000	-1.1084|-1.1084	5|10	.|0.45353	.|T	.|0.12	-0.1414|-0.1414	7.6403|7.6403	0.28290|0.28290	0.7608:0.0:0.2392:0.0|0.7608:0.0:0.2392:0.0	.|.	.|223;383;315;226;225	.|E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.|.;SH2D3_HUMAN;.;.;.	R|P	220|226;225;315;223;29;383	.|ENSP00000362374:L226P;ENSP00000388536:L225P;ENSP00000362373:L315P;ENSP00000362371:L223P;ENSP00000394632:L29P;ENSP00000317817:L383P	.|ENSP00000317817:L383P	C|L	-|-	1|2	0|0	SH2D3C|SH2D3C	129549363|129549363	0.792000|0.792000	0.28813|0.28813	0.553000|0.553000	0.28255|0.28255	0.386000|0.386000	0.30323|0.30323	3.104000|3.104000	0.50306|0.50306	0.327000|0.327000	0.23409|0.23409	0.459000|0.459000	0.35465|0.35465	TGC|CTG	SH2D3C	-	NULL	ENSG00000095370		0.657	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D3C	HGNC	protein_coding	OTTHUMT00000054264.1	48	0.00	0	A	NM_005489		130509542	130509542	-1	no_errors	ENST00000314830	ensembl	human	known	69_37n	missense	28	69.23	63	SNP	0.883	G
SH3KBP1	30011	genome.wustl.edu	37	X	19606866	19606866	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:19606866A>G	ENST00000397821.3	-	12	1483	c.1193T>C	c.(1192-1194)aTa>aCa	p.I398T	SH3KBP1_ENST00000379716.1_Missense_Mutation_p.I160T|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.I137T|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.I442T|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.I361T	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	398	Pro-rich.				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						TTTTGGCGGTATGGCAGGAAC	0.512																																						dbGAP											0													189.0	177.0	181.0					X																	19606866		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.1193T>C	X.37:g.19606866A>G	ENSP00000380921:p.Ile398Thr		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.I398T	ENST00000397821.3	37	c.1193	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251502	0.80135	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726;ENST00000379697	T;T;T;T;T;T	0.38401	1.58;1.58;1.58;1.58;1.58;1.14	5.85	5.85	0.93711	.	0.275206	0.41823	D	0.000806	T	0.55497	0.1924	L	0.53249	1.67	0.58432	D	0.999994	D;D;D	0.63880	0.974;0.988;0.993	P;P;D	0.72338	0.728;0.761;0.977	T	0.56068	-0.8040	10	0.54805	T	0.06	-13.2527	15.1138	0.72384	1.0:0.0:0.0:0.0	.	160;398;361	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	T	383;398;160;361;137;378;442	ENSP00000380921:I398T;ENSP00000369039:I160T;ENSP00000369020:I361T;ENSP00000442499:I137T;ENSP00000369049:I378T;ENSP00000369019:I442T	ENSP00000369019:I442T	I	-	2	0	SH3KBP1	19516787	1.000000	0.71417	0.948000	0.38648	0.986000	0.74619	6.414000	0.73318	1.952000	0.56665	0.481000	0.45027	ATA	SH3KBP1	-	NULL	ENSG00000147010		0.512	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	505	0.00	0	A	NM_031892		19606866	19606866	-1	no_errors	ENST00000397821	ensembl	human	known	69_37n	missense	387	67.27	814	SNP	1.000	G
SKA3	221150	genome.wustl.edu	37	13	21729839	21729839	+	Missense_Mutation	SNP	C	C	G	rs560187902	byFrequency	TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr13:21729839C>G	ENST00000314759.5	-	8	1355	c.1231G>C	c.(1231-1233)Gaa>Caa	p.E411Q	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	411					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CACCAGTTTTCTTTGTTGCTG	0.373																																						dbGAP											0													173.0	166.0	168.0					13																	21729839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.1231G>C	13.37:g.21729839C>G	ENSP00000319417:p.Glu411Gln		A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	NULL	p.E411Q	ENST00000314759.5	37	c.1231	CCDS31946.1	13	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321346	0.41096	.	.	ENSG00000165480	ENST00000314759	T	0.33438	1.41	5.02	4.17	0.49024	.	0.534795	0.20690	N	0.087472	T	0.42494	0.1205	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.23476	-1.0187	10	0.87932	D	0	-12.0328	10.9428	0.47283	0.0:0.9085:0.0:0.0915	.	411	Q8IX90	SKA3_HUMAN	Q	411	ENSP00000319417:E411Q	ENSP00000319417:E411Q	E	-	1	0	SKA3	20627839	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	2.268000	0.43338	2.754000	0.94517	0.573000	0.79308	GAA	SKA3	-	NULL	ENSG00000165480		0.373	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SKA3	HGNC	protein_coding	OTTHUMT00000272912.1	458	0.00	0	C	NM_145061		21729839	21729839	-1	no_errors	ENST00000314759	ensembl	human	known	69_37n	missense	148	29.05	61	SNP	1.000	G
SLAMF9	89886	genome.wustl.edu	37	1	159923329	159923329	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:159923329A>G	ENST00000368093.3	-	2	277	c.161T>C	c.(160-162)aTc>aCc	p.I54T	SLAMF9_ENST00000466773.1_5'Flank|SLAMF9_ENST00000368092.3_Missense_Mutation_p.I54T	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	54	Ig-like V-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGGACCAGATGATGTTCTC	0.542																																						dbGAP											0													170.0	151.0	157.0					1																	159923329		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.161T>C	1.37:g.159923329A>G	ENSP00000357072:p.Ile54Thr		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.I54T	ENST00000368093.3	37	c.161	CCDS1191.1	1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.526255	0.27299	.	.	ENSG00000162723	ENST00000368093;ENST00000368092	T;T	0.65178	-0.14;-0.14	5.61	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.643145	0.15772	N	0.245399	T	0.29458	0.0734	L	0.39397	1.21	0.09310	N	0.999991	B;B	0.34103	0.194;0.437	B;B	0.36885	0.107;0.235	T	0.14811	-1.0459	9	.	.	.	-20.6944	5.3035	0.15791	0.761:0.0:0.0845:0.1545	.	54;54	Q96A28-2;Q96A28	.;SLAF9_HUMAN	T	54	ENSP00000357072:I54T;ENSP00000357071:I54T	.	I	-	2	0	SLAMF9	158189953	0.025000	0.19082	0.377000	0.26055	0.471000	0.32888	0.051000	0.14141	0.371000	0.24564	0.533000	0.62120	ATC	SLAMF9	-	pfam_Ig_V-set	ENSG00000162723		0.542	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF9	HGNC	protein_coding	OTTHUMT00000060630.1	304	0.00	0	A	NM_033438		159923329	159923329	-1	no_errors	ENST00000368093	ensembl	human	known	69_37n	missense	597	14.87	105	SNP	0.397	G
SLC10A3	8273	genome.wustl.edu	37	X	153716489	153716489	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:153716489delG	ENST00000393587.4	-	3	1054	c.791delC	c.(790-792)tcgfs	p.S264fs	UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Frame_Shift_Del_p.S319fs|SLC10A3_ENST00000263512.4_Frame_Shift_Del_p.S264fs|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Frame_Shift_Del_p.S235fs|UBL4A_ENST00000369660.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	264					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	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)					GCCGCCAGGCGACGAGCAGGT	0.622																																						dbGAP											0													51.0	52.0	52.0					X																	153716489		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.791delC	X.37:g.153716489delG	ENSP00000377212:p.Ser264fs		Q5HY79|Q9BSL2	Frame_Shift_Del	DEL	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.S264fs	ENST00000393587.4	37	c.791	CCDS14755.1	X																																																																																			SLC10A3	-	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	ENSG00000126903		0.622	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	HGNC	protein_coding	OTTHUMT00000037235.3	69	0.00	0	G	NM_019848		153716489	153716489	-1	no_errors	ENST00000263512	ensembl	human	known	69_37n	frame_shift_del	3	68.75	11	DEL	0.272	-
SLC10A3	8273	genome.wustl.edu	37	X	153716700	153716700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:153716700delA	ENST00000393587.4	-	3	843	c.580delT	c.(580-582)tacfs	p.Y194fs	UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Frame_Shift_Del_p.Y249fs|SLC10A3_ENST00000263512.4_Frame_Shift_Del_p.Y194fs|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Frame_Shift_Del_p.Y165fs|UBL4A_ENST00000369660.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	194					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	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)					AGGAGCAGGTAGAGGATTGGG	0.567																																						dbGAP											0													82.0	83.0	83.0					X																	153716700		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.580delT	X.37:g.153716700delA	ENSP00000377212:p.Tyr194fs		Q5HY79|Q9BSL2	Frame_Shift_Del	DEL	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.Y194fs	ENST00000393587.4	37	c.580	CCDS14755.1	X																																																																																			SLC10A3	-	tigrfam_Bil_ac_transpt	ENSG00000126903		0.567	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	HGNC	protein_coding	OTTHUMT00000037235.3	53	0.00	0	A	NM_019848		153716700	153716700	-1	no_errors	ENST00000263512	ensembl	human	known	69_37n	frame_shift_del	5	77.27	17	DEL	1.000	-
SLC10A3	8273	genome.wustl.edu	37	X	153716703	153716703	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:153716703G>T	ENST00000393587.4	-	3	840	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.L248I|SLC10A3_ENST00000263512.4_Missense_Mutation_p.L193I|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.L164I|UBL4A_ENST00000369660.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	193					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	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)					AGCAGGTAGAGGATTGGGTTT	0.562																																						dbGAP											0													83.0	83.0	83.0					X																	153716703		2203	4300	6503	-	-	-	SO:0001583	missense	0			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.577C>A	X.37:g.153716703G>T	ENSP00000377212:p.Leu193Ile		Q5HY79|Q9BSL2	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.L193I	ENST00000393587.4	37	c.577	CCDS14755.1	X	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953706	0.73902	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.10573	3.05;2.86;2.89;2.89	5.36	4.46	0.54185	.	0.090639	0.44483	U	0.000454	T	0.18882	0.0453	M	0.76002	2.32	0.43622	D	0.996008	D;D	0.55800	0.966;0.973	P;P	0.47015	0.452;0.534	T	0.03249	-1.1056	10	0.31617	T	0.26	-15.4113	14.0376	0.64654	0.0:0.1477:0.8523:0.0	.	164;193	Q9BSL2;P09131	.;P3_HUMAN	I	164;248;193;193;193	ENSP00000358663:L164I;ENSP00000377211:L248I;ENSP00000263512:L193I;ENSP00000377212:L193I	ENSP00000263512:L193I	L	-	1	0	SLC10A3	153369897	1.000000	0.71417	0.911000	0.35937	0.943000	0.58893	5.501000	0.66950	2.229000	0.72834	0.600000	0.82982	CTC	SLC10A3	-	tigrfam_Bil_ac_transpt	ENSG00000126903		0.562	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	HGNC	protein_coding	OTTHUMT00000037235.3	54	0.00	0	G	NM_019848		153716703	153716703	-1	no_errors	ENST00000263512	ensembl	human	known	69_37n	missense	5	79.17	19	SNP	0.992	T
SLC13A1	6561	genome.wustl.edu	37	7	122769492	122769492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:122769492G>A	ENST00000194130.2	-	9	1015	c.976C>T	c.(976-978)Caa>Taa	p.Q326*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	326					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAAGCTTTTTGTTGGACTGTT	0.398																																						dbGAP											0													291.0	240.0	257.0					7																	122769492		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.976C>T	7.37:g.122769492G>A	ENSP00000194130:p.Gln326*		Q9H5Z0	Nonsense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.Q326*	ENST00000194130.2	37	c.976	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.580022	0.96565	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.69	3.89	0.44902	.	0.152443	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	16.115	0.81301	0.0:0.7947:0.2053:0.0	.	.	.	.	X	326	.	ENSP00000194130:Q326X	Q	-	1	0	SLC13A1	122556728	1.000000	0.71417	0.956000	0.39512	0.933000	0.57130	3.170000	0.50816	0.756000	0.33013	0.462000	0.41574	CAA	SLC13A1	-	pfam_Na/sul_symport	ENSG00000081800		0.398	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	540	0.00	0	G	NM_022444		122769492	122769492	-1	no_errors	ENST00000194130	ensembl	human	known	69_37n	nonsense	656	33.16	326	SNP	1.000	A
SLC16A12	387700	genome.wustl.edu	37	10	91195821	91195821	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:91195821G>A	ENST00000341233.4	-	7	1584	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	SLC16A12_ENST00000371790.4_Silent_p.I428I	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	398						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						ACTTACCTGCGATGGGTGGGC	0.488																																						dbGAP											0													94.0	85.0	88.0					10																	91195821		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1194C>T	10.37:g.91195821G>A			Q5M9M9|Q5T7J2|Q6ZV76	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I428	ENST00000341233.4	37	c.1284		10																																																																																			SLC16A12	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000152779		0.488	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	SLC16A12	HGNC	protein_coding		230	0.00	0	G	NM_213606		91195821	91195821	-1	no_errors	ENST00000371790	ensembl	human	known	69_37n	silent	31	73.95	88	SNP	0.816	A
SLC22A15	55356	genome.wustl.edu	37	1	116574176	116574176	+	Silent	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:116574176A>T	ENST00000369503.4	+	6	1048	c.918A>T	c.(916-918)ggA>ggT	p.G306G	SLC22A15_ENST00000369502.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	306					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCTGTTAGGACACACTTTGA	0.473																																						dbGAP											0													131.0	130.0	131.0					1																	116574176		1934	4135	6069	-	-	-	SO:0001819	synonymous_variant	0			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.918A>T	1.37:g.116574176A>T			A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G306	ENST00000369503.4	37	c.918	CCDS44198.1	1																																																																																			SLC22A15	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163393		0.473	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A15	HGNC	protein_coding	OTTHUMT00000033220.2	185	0.00	0	A	NM_018420		116574176	116574176	+1	no_errors	ENST00000369503	ensembl	human	known	69_37n	silent	120	37.95	74	SNP	0.957	T
SLC25A41	284427	genome.wustl.edu	37	19	6430130	6430131	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:6430130_6430131insC	ENST00000321510.6	-	3	473_474	c.405_406insG	c.(403-408)gggctafs	p.L136fs		NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ATGCTCTGTAGCCCCCCCAGCA	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"""Solute carriers"""	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.406dupG	19.37:g.6430137_6430137dupC	ENSP00000322649:p.Leu136fs			Frame_Shift_Ins	INS	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L135fs	ENST00000321510.6	37	c.406_405	CCDS45937.1	19																																																																																			SLC25A41	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000181240		0.629	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000462222.1	62	0.00	0	-	NM_173637		6430130	6430131	-1	no_errors	ENST00000321510	ensembl	human	known	69_37n	frame_shift_ins	37	13.95	6	INS	0.009:0.003	C
SLC25A41	284427	genome.wustl.edu	37	19	6433604	6433605	+	Frame_Shift_Ins	INS	-	-	G	rs200394445	byFrequency	TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:6433604_6433605insG	ENST00000321510.6	-	1	168_169	c.100_101insC	c.(100-102)caafs	p.Q34fs	SLC25A23_ENST00000601760.1_5'Flank	NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						aggcggaggttgggggggaggc	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"""Solute carriers"""	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.101dupC	19.37:g.6433611_6433611dupG	ENSP00000322649:p.Gln34fs			Frame_Shift_Ins	INS	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q34fs	ENST00000321510.6	37	c.101_100	CCDS45937.1	19																																																																																			SLC25A41	-	NULL	ENSG00000181240		0.574	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000462222.1	55	0.00	0	-	NM_173637		6433604	6433605	-1	no_errors	ENST00000321510	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.001:0.000	G
SLC35A2	7355	genome.wustl.edu	37	X	48767129	48767129	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:48767129delC	ENST00000247138.5	-	2	239	c.236delG	c.(235-237)ggtfs	p.G79fs	SLC35A2_ENST00000376529.3_Frame_Shift_Del_p.G79fs|SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376515.3_Frame_Shift_Del_p.G55fs|SLC35A2_ENST00000445167.2_Frame_Shift_Del_p.G79fs|SLC35A2_ENST00000376521.1_Frame_Shift_Del_p.G79fs|SLC35A2_ENST00000376512.1_Frame_Shift_Del_p.G79fs|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.G107fs	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	79					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GCAGGTGAGACCTTTGAGCAC	0.607																																						dbGAP											0													90.0	61.0	71.0					X																	48767129		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.236delG	X.37:g.48767129delC	ENSP00000247138:p.Gly79fs		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Frame_Shift_Del	DEL	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.G107fs	ENST00000247138.5	37	c.320	CCDS14311.1	X																																																																																			SLC35A2	-	pirsf_UDP/CMP-sugar_transptr	ENSG00000102100		0.607	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35A2	HGNC	protein_coding	OTTHUMT00000060790.1	108	0.00	0	C	NM_005660		48767129	48767129	-1	no_errors	ENST00000452555	ensembl	human	known	69_37n	frame_shift_del	84	16.67	17	DEL	0.997	-
SLC3A2	6520	genome.wustl.edu	37	11	62656079	62656079	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:62656079C>G	ENST00000377890.2	+	12	1975	c.1807C>G	c.(1807-1809)Cgt>Ggt	p.R603G	SLC3A2_ENST00000377891.2_Missense_Mutation_p.R604G|SLC3A2_ENST00000536981.1_Missense_Mutation_p.R148G|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R502G|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R541G|SLC3A2_ENST00000535296.1_Missense_Mutation_p.R572G|SLC3A2_ENST00000377892.1_Missense_Mutation_p.R634G	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	603					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CCAGCCAGGCCGTGAGGAGGG	0.672																																						dbGAP											0													54.0	57.0	56.0					11																	62656079		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1807C>G	11.37:g.62656079C>G	ENSP00000367122:p.Arg603Gly		Q13543	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.R634G	ENST00000377890.2	37	c.1900	CCDS8039.2	11	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138972	0.56936	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606;ENST00000536981	D;D;D;D;D;D;D	0.98493	-4.93;-4.95;-4.96;-4.93;-4.94;-4.94;-3.67	5.17	4.25	0.50352	Glycosyl hydrolase, family 13, all-beta (1);	1.229190	0.05486	N	0.555599	D	0.97990	0.9338	M	0.85197	2.74	0.33563	D	0.597668	P;P;P;P;D	0.61697	0.857;0.943;0.951;0.804;0.99	P;B;B;B;P	0.45712	0.487;0.355;0.193;0.209;0.491	D	0.94184	0.7434	10	0.39692	T	0.17	-3.2523	8.7522	0.34622	0.1714:0.663:0.1656:0.0	.	541;572;603;502;634	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	G	634;604;603;604;541;572;502;484;148	ENSP00000367124:R634G;ENSP00000367123:R604G;ENSP00000367122:R603G;ENSP00000367121:R541G;ENSP00000444236:R572G;ENSP00000340815:R502G;ENSP00000444439:R148G	ENSP00000340815:R502G	R	+	1	0	SLC3A2	62412655	0.046000	0.20272	0.861000	0.33841	0.903000	0.53119	0.660000	0.25009	1.161000	0.42604	0.551000	0.68910	CGT	SLC3A2	-	NULL	ENSG00000168003		0.672	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	SLC3A2	HGNC	protein_coding	OTTHUMT00000157306.1	36	0.00	0	C	NM_001012661		62656079	62656079	+1	no_errors	ENST00000377892	ensembl	human	known	69_37n	missense	34	58.02	47	SNP	0.823	G
SLC45A2	51151	genome.wustl.edu	37	5	33954536	33954536	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:33954536C>G	ENST00000296589.4	-	4	1108	c.962G>C	c.(961-963)tGc>tCc	p.C321S	SLC45A2_ENST00000509381.1_Missense_Mutation_p.L212F|SLC45A2_ENST00000342059.3_Missense_Mutation_p.C262S|SLC45A2_ENST00000382102.3_Missense_Mutation_p.C321S|SLC45A2_ENST00000345083.5_Missense_Mutation_p.C213S	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	321					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GTGGCTGATGCAAAGGTAGCG	0.478																																					Ovarian(31;380 859 8490 22203 49048)	dbGAP											0													222.0	159.0	181.0					5																	33954536		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.962G>C	5.37:g.33954536C>G	ENSP00000296589:p.Cys321Ser		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.C321S	ENST00000296589.4	37	c.962	CCDS3901.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.964233|4.964233	0.92791|0.92791	.|.	.|.	ENSG00000164175|ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600;ENST00000345083|ENST00000509381	D;D;D;D;D|.	0.96104|.	-3.91;-3.91;-3.91;-3.91;-3.04|.	6.08|6.08	5.21|5.21	0.72293|0.72293	Major facilitator superfamily domain, general substrate transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71970|0.71970	0.3403|0.3403	M|M	0.87269|0.87269	2.87|2.87	0.37468|0.37468	D|D	0.9155|0.9155	D;P|B	0.76494|0.29988	0.999;0.942|0.264	D;D|B	0.76575|0.26693	0.988;0.91|0.072	T|T	0.76424|0.76424	-0.2964|-0.2964	10|8	0.49607|0.54805	T|T	0.09|0.06	-17.4975|-17.4975	16.8393|16.8393	0.85964|0.85964	0.1297:0.8703:0.0:0.0|0.1297:0.8703:0.0:0.0	.|.	321;321|212	Q9UMX9-4;Q9UMX9|D6RGY6	.;S45A2_HUMAN|.	S|F	321;262;321;146;213|212	ENSP00000296589:C321S;ENSP00000341014:C262S;ENSP00000371534:C321S;ENSP00000424010:C146S;ENSP00000340444:C213S|.	ENSP00000296589:C321S|ENSP00000421100:L212F	C|L	-|-	2|3	0|2	SLC45A2|SLC45A2	33990293|33990293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.730000|3.730000	0.55006|0.55006	1.573000|1.573000	0.49748|0.49748	0.655000|0.655000	0.94253|0.94253	TGC|TTG	SLC45A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000164175		0.478	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	HGNC	protein_coding	OTTHUMT00000207443.2	208	0.00	0	C	NM_016180		33954536	33954536	-1	no_errors	ENST00000296589	ensembl	human	known	69_37n	missense	55	55.65	69	SNP	1.000	G
SMC1A	8243	genome.wustl.edu	37	X	53432450	53432451	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chrX:53432450_53432451insT	ENST00000322213.4	-	11	2012_2013	c.1885_1886insA	c.(1885-1887)gccfs	p.A629fs	SMC1A_ENST00000375340.6_Frame_Shift_Ins_p.A395fs	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	629	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCCTCCAAAGGCAATGCGGCGG	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1885_1886insA	X.37:g.53432450_53432451insT	ENSP00000323421:p.Ala629fs		O14995|Q16351|Q2M228	Frame_Shift_Ins	INS	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.A629fs	ENST00000322213.4	37	c.1886_1885	CCDS14352.1	X																																																																																			SMC1A	-	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000072501		0.550	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	85	0.00	0	-	NM_006306		53432450	53432451	-1	no_errors	ENST00000322213	ensembl	human	known	69_37n	frame_shift_ins	63	10.00	7	INS	1.000:1.000	T
SMOC1	64093	genome.wustl.edu	37	14	70477539	70477540	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:70477539_70477540GG>AT	ENST00000381280.4	+	8	986_987	c.733_734GG>AT	c.(733-735)GGt>ATt	p.G245I	SMOC1_ENST00000361956.3_Missense_Mutation_p.G245I	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	245	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TCCCCGTGAGGGTATTGTCATC	0.569																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		Exception_encountered	14.37:g.70477539_70477540delinsAT	ENSP00000370680:p.Gly245Ile		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.G245S|p.G245V	ENST00000381280.4	37	c.733|c.734	CCDS9798.1	14																																																																																			SMOC1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000198732		0.569	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMOC1	HGNC	protein_coding	OTTHUMT00000412467.1	86|84	0.00	0	G			70477539|70477540	70477539|70477540	+1	no_errors	ENST00000361956	ensembl	human	known	69_37n	missense	44|42	15.38|19.23	8|10	SNP	1.000	A|T
SNX20	124460	genome.wustl.edu	37	16	50707855	50707855	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:50707855A>G	ENST00000330943.4	-	4	584	c.413T>C	c.(412-414)gTg>gCg	p.V138A	SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	138	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGGAAACTCCACGTCTTCGAT	0.587																																						dbGAP											0													79.0	72.0	75.0					16																	50707855		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.413T>C	16.37:g.50707855A>G	ENSP00000332062:p.Val138Ala		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.V138A	ENST00000330943.4	37	c.413	CCDS10745.1	16	.	.	.	.	.	.	.	.	.	.	A	16.87	3.241657	0.58995	.	.	ENSG00000167208	ENST00000330943	T	0.38722	1.12	5.53	5.53	0.82687	Phox homologous domain (5);	0.272895	0.34725	N	0.003723	T	0.49287	0.1548	L	0.52364	1.645	0.40599	D	0.981561	P	0.50819	0.939	P	0.51453	0.67	T	0.52223	-0.8604	10	0.54805	T	0.06	-40.4695	14.2231	0.65841	1.0:0.0:0.0:0.0	.	138	Q7Z614	SNX20_HUMAN	A	138	ENSP00000332062:V138A	ENSP00000332062:V138A	V	-	2	0	SNX20	49265356	0.919000	0.31177	0.797000	0.32132	0.096000	0.18686	8.312000	0.89976	2.107000	0.64212	0.459000	0.35465	GTG	SNX20	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000167208		0.587	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	48	0.00	0	A	NM_153337		50707855	50707855	-1	no_errors	ENST00000330943	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.462	G
SOGA1	140710	genome.wustl.edu	37	20	35445813	35445813	+	Silent	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr20:35445813C>A	ENST00000357779.3	-	4	743	c.417G>T	c.(415-417)gtG>gtT	p.V139V	SOGA1_ENST00000279034.6_Silent_p.V139V|SOGA1_ENST00000456801.2_5'Flank|SOGA1_ENST00000237536.4_Silent_p.V377V			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	139					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GAATTACCTGCACCAAAGTCT	0.478																																						dbGAP											0													41.0	41.0	41.0					20																	35445813		1819	4070	5889	-	-	-	SO:0001819	synonymous_variant	0			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.417G>T	20.37:g.35445813C>A			A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	pfam_DUF3166	p.V139	ENST00000357779.3	37	c.417		20																																																																																			SOGA1	-	NULL	ENSG00000149639		0.478	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		124	0.80	1	C	NM_199181		35445813	35445813	-1	no_errors	ENST00000357779	ensembl	human	known	69_37n	silent	91	25.41	31	SNP	0.014	A
SORBS3	10174	genome.wustl.edu	37	8	22414410	22414411	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:22414410_22414411insC	ENST00000240123.7	+	4	786_787	c.403_404insC	c.(403-405)gccfs	p.A135fs	SORBS3_ENST00000523402.1_Frame_Shift_Ins_p.A135fs	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	135	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CATGCCCATTGCCCCCCGATCC	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.409dupC	8.37:g.22414416_22414416dupC	ENSP00000240123:p.Ala135fs		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Frame_Shift_Ins	INS	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.R137fs	ENST00000240123.7	37	c.403_404	CCDS6031.1	8																																																																																			SORBS3	-	pfam_Sorb,smart_Sorb,pfscan_Sorb	ENSG00000120896		0.634	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORBS3	HGNC	protein_coding	OTTHUMT00000254647.3	57	0.00	0	-	NM_005775		22414410	22414411	+1	no_errors	ENST00000240123	ensembl	human	known	69_37n	frame_shift_ins	6	25.00	2	INS	1.000:1.000	C
SPEN	23013	genome.wustl.edu	37	1	16247478	16247478	+	Splice_Site	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:16247478G>T	ENST00000375759.3	+	9	1953	c.1749G>T	c.(1747-1749)aaG>aaT	p.K583N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	583	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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 neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATAAAATTAAGGTGTGCAGAA	0.443																																						dbGAP											0													91.0	90.0	91.0					1																	16247478		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1749+1G>T	1.37:g.16247478G>T			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.K583N	ENST00000375759.3	37	c.1749	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272483	0.80580	.	.	ENSG00000065526	ENST00000375759	T	0.06608	3.28	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.16769	0.0403	N	0.25144	0.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01776	-1.1276	9	0.62326	D	0.03	-8.2865	20.1935	0.98237	0.0:0.0:1.0:0.0	.	583	Q96T58	MINT_HUMAN	N	583	ENSP00000364912:K583N	ENSP00000364912:K583N	K	+	3	2	SPEN	16120065	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.385000	0.97223	2.779000	0.95612	0.591000	0.81541	AAG	SPEN	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000065526		0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	280	0.00	0	G	NM_015001	Missense_Mutation	16247478	16247478	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	137	34.76	73	SNP	1.000	T
SPTBN2	6712	genome.wustl.edu	37	11	66455691	66455691	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:66455691G>T	ENST00000533211.1	-	32	6654	c.6323C>A	c.(6322-6324)cCt>cAt	p.P2108H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2108H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2108H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2108					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTCCCCTGGAGGCACACTGGC	0.652																																						dbGAP											0													35.0	39.0	38.0					11																	66455691		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6323C>A	11.37:g.66455691G>T	ENSP00000432568:p.Pro2108His		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.P2108H	ENST00000533211.1	37	c.6323	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021500	0.75275	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.71103	-0.54;-0.54;-0.54	5.31	5.31	0.75309	.	0.635807	0.16363	N	0.217677	T	0.55337	0.1914	N	0.19112	0.55	0.46044	D	0.998837	P	0.48294	0.908	B	0.37780	0.258	T	0.59867	-0.7373	10	0.42905	T	0.14	.	14.8414	0.70226	0.0:0.0:1.0:0.0	.	2108	O15020	SPTN2_HUMAN	H	2108;2108;2108;652	ENSP00000432568:P2108H;ENSP00000311489:P2108H;ENSP00000433593:P2108H	ENSP00000311489:P2108H	P	-	2	0	SPTBN2	66212267	0.948000	0.32251	0.063000	0.19743	0.016000	0.09150	4.133000	0.57983	2.647000	0.89833	0.655000	0.94253	CCT	SPTBN2	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000173898		0.652	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	120	0.00	0	G	NM_006946		66455691	66455691	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	missense	28	55.56	35	SNP	0.695	T
SREBF2	6721	genome.wustl.edu	37	22	42273963	42273963	+	Missense_Mutation	SNP	G	G	C	rs200675940		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr22:42273963G>C	ENST00000361204.4	+	9	1763	c.1597G>C	c.(1597-1599)Gac>Cac	p.D533H		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	533					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGGCTGGTTTGACTGGATGAT	0.552																																						dbGAP											0													169.0	161.0	164.0					22																	42273963		2203	4300	6503	-	-	-	SO:0001583	missense	0			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1597G>C	22.37:g.42273963G>C	ENSP00000354476:p.Asp533His		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.D533H	ENST00000361204.4	37	c.1597	CCDS14023.1	22	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750509	0.31046	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.54866	0.55	4.96	3.95	0.45737	.	0.328449	0.37530	N	0.002044	T	0.37598	0.1009	N	0.19112	0.55	0.41644	D	0.98909	B	0.10296	0.003	B	0.06405	0.002	T	0.20174	-1.0283	10	0.44086	T	0.13	-25.3099	13.0731	0.59072	0.0768:0.0:0.9232:0.0	.	533	Q12772	SRBP2_HUMAN	H	533	ENSP00000354476:D533H	ENSP00000354476:D533H	D	+	1	0	SREBF2	40603909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.096000	0.50243	1.326000	0.45319	0.549000	0.68633	GAC	SREBF2	-	NULL	ENSG00000198911		0.552	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1	277	0.00	0	G	NM_004599		42273963	42273963	+1	no_errors	ENST00000361204	ensembl	human	known	69_37n	missense	112	53.14	127	SNP	1.000	C
STK31	56164	genome.wustl.edu	37	7	23751906	23751906	+	Splice_Site	SNP	G	G	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:23751906G>T	ENST00000355870.3	+	3	269		c.e3+1		STK31_ENST00000354639.3_Splice_Site|STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000433467.2_Splice_Site	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31							acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGGGCCCAGGTAAATAGCAA	0.378																																						dbGAP											0													161.0	157.0	158.0					7																	23751906		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.150+1G>T	7.37:g.23751906G>T			B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Splice_Site	SNP	-	e3+1	ENST00000355870.3	37	c.150+1	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830485	0.71258	.	.	ENSG00000196335	ENST00000355870;ENST00000422637;ENST00000456014;ENST00000433467;ENST00000354639;ENST00000531170;ENST00000444333;ENST00000428484	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.13	0.72514	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK31	23718431	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.106000	0.64597	2.639000	0.89480	0.655000	0.94253	.	STK31	-	-	ENSG00000196335		0.378	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	497	0.00	0	G	NM_031414	Intron	23751906	23751906	+1	no_errors	ENST00000355870	ensembl	human	known	69_37n	splice_site	96	73.30	269	SNP	1.000	T
STRADA	92335	genome.wustl.edu	37	17	61787935	61787935	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:61787935C>T	ENST00000336174.6	-	8	609	c.497G>A	c.(496-498)gGc>gAc	p.G166D	STRADA_ENST00000392950.4_Missense_Mutation_p.G129D|STRADA_ENST00000447001.3_Missense_Mutation_p.G122D|STRADA_ENST00000375840.4_Missense_Mutation_p.G108D|STRADA_ENST00000245865.5_Missense_Mutation_p.G108D|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000582137.1_Missense_Mutation_p.G137D|STRADA_ENST00000579340.1_Missense_Mutation_p.G108D|RP11-51F16.8_ENST00000580553.1_Intron	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CTCATTCATGCCATCCATGAA	0.502																																						dbGAP											0													104.0	89.0	94.0					17																	61787935		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.497G>A	17.37:g.61787935C>T	ENSP00000336655:p.Gly166Asp		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	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.G166D	ENST00000336174.6	37	c.497	CCDS32703.1	17	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301866	0.60195	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.74106	-0.81;-0.81;-0.81;1.81	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86543	0.5958	M	0.69523	2.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.86991	0.2110	10	0.87932	D	0	.	19.9788	0.97318	0.0:1.0:0.0:0.0	.	137;122;108;108;129;129;166	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	D	166;108;122;129;128	ENSP00000336655:G166D;ENSP00000365000:G108D;ENSP00000398841:G122D;ENSP00000376677:G129D	ENSP00000245865:G128D	G	-	2	0	STRADA	59141667	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.487000	0.81328	2.719000	0.93026	0.555000	0.69702	GGC	STRADA	-	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	ENSG00000266173		0.502	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	HGNC	protein_coding	OTTHUMT00000443894.1	191	0.00	0	C			61787935	61787935	-1	no_errors	ENST00000336174	ensembl	human	known	69_37n	missense	91	22.03	26	SNP	1.000	T
STRN4	29888	genome.wustl.edu	37	19	47231375	47231375	+	Intron	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:47231375G>A	ENST00000263280.6	-	8	1089				CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000391910.3_Intron|STRN4_ENST00000594357.2_Intron|STRN4_ENST00000539396.1_Intron	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4							cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGGCTGTGAAGCTCTGGCCCT	0.667																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1040-111C>T	19.37:g.47231375G>A			A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	pfam_Striatin_N	p.L231F	ENST00000263280.6	37	c.691	CCDS12690.1	19	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743911	0.30865	.	.	ENSG00000090372	ENST00000435164	.	.	.	3.75	2.7	0.31948	.	.	.	.	.	T	0.33177	0.0854	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19712	-1.0297	4	.	.	.	.	7.3323	0.26590	0.1272:0.0:0.8728:0.0	.	.	.	.	F	231	.	.	L	-	1	0	STRN4	51923215	0.066000	0.20996	0.008000	0.14137	0.147000	0.21601	3.110000	0.50352	0.699000	0.31761	0.555000	0.69702	CTT	STRN4	-	NULL	ENSG00000090372		0.667	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	STRN4	HGNC	protein_coding	OTTHUMT00000466607.2	28	0.00	0	G			47231375	47231375	-1	no_errors	ENST00000435164	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.028	A
SYNE2	23224	genome.wustl.edu	37	14	64600895	64600895	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr14:64600895G>C	ENST00000344113.4	+	78	14835	c.14623G>C	c.(14623-14625)Gtg>Ctg	p.V4875L	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.V1260L|SYNE2_ENST00000358025.3_Missense_Mutation_p.V4875L|SYNE2_ENST00000394768.2_Missense_Mutation_p.V1260L|SYNE2_ENST00000555002.1_Missense_Mutation_p.V1509L|SYNE2_ENST00000554584.1_Missense_Mutation_p.V4792L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4875					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)		GGAAAGATTAGTGGAAAGGAT	0.358																																						dbGAP											0													167.0	174.0	172.0					14																	64600895		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.14623G>C	14.37:g.64600895G>C	ENSP00000341781:p.Val4875Leu		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.V4875L	ENST00000344113.4	37	c.14623	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738618	0.30774	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.56444	0.81;4.11;0.81;0.46;4.16;4.11	5.95	-3.15	0.05233	.	1.061960	0.07388	N	0.888507	T	0.28034	0.0691	N	0.11560	0.145	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.005;0.001;0.002	T	0.20472	-1.0274	10	0.20046	T	0.44	.	7.1834	0.25786	0.6017:0.2575:0.1408:0.0	.	1260;4875;4875	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	L	4875;1260;4875;4792;4792;1509;1260	ENSP00000350719:V4875L;ENSP00000349969:V1260L;ENSP00000341781:V4875L;ENSP00000452570:V4792L;ENSP00000450831:V1509L;ENSP00000378249:V1260L	ENSP00000261678:V4792L	V	+	1	0	SYNE2	63670648	0.002000	0.14202	0.450000	0.26969	0.980000	0.70556	1.459000	0.35234	-0.405000	0.07599	-0.304000	0.09214	GTG	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	372	0.00	0	G	NM_182914		64600895	64600895	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	102	71.98	262	SNP	0.031	C
SYNJ2	8871	genome.wustl.edu	37	6	158505094	158505094	+	Silent	SNP	G	G	C	rs531292734		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:158505094G>C	ENST00000355585.4	+	22	3171	c.3096G>C	c.(3094-3096)tcG>tcC	p.S1032S	SYNJ2_ENST00000367112.1_Silent_p.S117S|SYNJ2_ENST00000367121.3_Silent_p.S1032S|SYNJ2_ENST00000367122.2_Silent_p.S1032S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1032					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGGAGTCTCGGACAGTGAAC	0.517																																						dbGAP											0													196.0	211.0	206.0					6																	158505094		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3096G>C	6.37:g.158505094G>C			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.S1032	ENST00000355585.4	37	c.3096	CCDS5254.1	6																																																																																			SYNJ2	-	NULL	ENSG00000078269		0.517	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	137	0.00	0	G			158505094	158505094	+1	no_errors	ENST00000355585	ensembl	human	known	69_37n	silent	89	15.24	16	SNP	0.432	C
SYTL2	54843	genome.wustl.edu	37	11	85445156	85445156	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:85445156C>T	ENST00000528231.1	-	6	1490	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	SYTL2_ENST00000316356.4_Missense_Mutation_p.E406K|SYTL2_ENST00000389960.4_Missense_Mutation_p.E405K|SYTL2_ENST00000524452.1_Missense_Mutation_p.E405K|SYTL2_ENST00000527523.1_Missense_Mutation_p.E357K	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	405					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGATGTGTTTCACTTTTTGAT	0.413																																						dbGAP											0													149.0	143.0	145.0					11																	85445156		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1213G>A	11.37:g.85445156C>T	ENSP00000431701:p.Glu405Lys		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	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.E406K	ENST00000528231.1	37	c.1216	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	5.868	0.344276	0.11126	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.27256	1.75;1.78;1.78;1.68;1.75	6.08	4.16	0.48862	.	.	.	.	.	T	0.22085	0.0532	L	0.44542	1.39	0.20403	N	0.999906	P;P;B;P;P	0.49862	0.73;0.852;0.44;0.929;0.554	B;B;B;B;B	0.43445	0.167;0.353;0.05;0.42;0.178	T	0.10730	-1.0617	8	.	.	.	.	6.0047	0.19539	0.1536:0.6901:0.0:0.1563	.	357;405;405;406;263	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	K	405;406;405;357;405	ENSP00000374610:E405K;ENSP00000318803:E406K;ENSP00000431701:E405K;ENSP00000434010:E357K;ENSP00000435238:E405K	.	E	-	1	0	SYTL2	85122804	0.000000	0.05858	0.353000	0.25747	0.376000	0.30014	-0.031000	0.12287	1.592000	0.50018	0.655000	0.94253	GAA	SYTL2	-	NULL	ENSG00000137501		0.413	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	398	0.50	2	C	NM_206927		85445156	85445156	-1	no_errors	ENST00000316356	ensembl	human	known	69_37n	missense	590	10.47	69	SNP	0.058	T
TBC1D10B	26000	genome.wustl.edu	37	16	30380863	30380863	+	Silent	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:30380863T>G	ENST00000409939.3	-	1	722	c.642A>C	c.(640-642)tcA>tcC	p.S214S		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	214					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			TGCCAGGGCCTGAGGGGTCCT	0.627																																						dbGAP											0													24.0	28.0	27.0					16																	30380863		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.642A>C	16.37:g.30380863T>G			B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S214	ENST00000409939.3	37	c.642	CCDS10676.2	16																																																																																			TBC1D10B	-	NULL	ENSG00000169221		0.627	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	20	0.00	0	T	NM_015527		30380863	30380863	-1	no_errors	ENST00000409939	ensembl	human	known	69_37n	silent	16	97.01	552	SNP	0.001	G
TCEA3	6920	genome.wustl.edu	37	1	23713860	23713860	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:23713860G>A	ENST00000450454.2	-	9	978	c.872C>T	c.(871-873)gCc>gTc	p.A291V		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	291	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		CTCACGGATGGCCTCCTGGGT	0.542																																						dbGAP											0													64.0	66.0	65.0					1																	23713860		2154	4277	6431	-	-	-	SO:0001583	missense	0			AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.872C>T	1.37:g.23713860G>A	ENSP00000406293:p.Ala291Val		A8K2K7|Q5DR83	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.A291V	ENST00000450454.2	37	c.872	CCDS44086.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.249382	0.95305	.	.	ENSG00000204219	ENST00000450454	.	.	.	5.16	5.16	0.70880	Transcription elongation factor S-II, central domain (2);	0.053381	0.85682	N	0.000000	D	0.83275	0.5219	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85799	0.1372	9	0.87932	D	0	-19.4253	17.6139	0.88063	0.0:0.0:1.0:0.0	.	291	O75764	TCEA3_HUMAN	V	291	.	ENSP00000406293:A291V	A	-	2	0	TCEA3	23586447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.689000	0.98673	2.595000	0.87683	0.655000	0.94253	GCC	TCEA3	-	pfam_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII	ENSG00000204219		0.542	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TCEA3	HGNC	protein_coding	OTTHUMT00000008911.2	173	0.00	0	G	NM_003196		23713860	23713860	-1	no_errors	ENST00000450454	ensembl	human	known	69_37n	missense	126	11.81	17	SNP	1.000	A
TCF4	6925	genome.wustl.edu	37	18	52921803	52921803	+	Silent	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr18:52921803A>G	ENST00000356073.4	-	15	1886	c.1275T>C	c.(1273-1275)tcT>tcC	p.S425S	TCF4_ENST00000561992.1_Silent_p.S295S|TCF4_ENST00000565018.2_Silent_p.S425S|TCF4_ENST00000457482.3_Silent_p.S265S|TCF4_ENST00000567880.1_Silent_p.S365S|TCF4_ENST00000566279.1_Silent_p.S365S|TCF4_ENST00000570287.2_Silent_p.S265S|TCF4_ENST00000540999.1_Silent_p.S401S|TCF4_ENST00000537578.1_Silent_p.S401S|TCF4_ENST00000568673.1_Silent_p.S401S|TCF4_ENST00000544241.2_Silent_p.S354S|TCF4_ENST00000570177.2_Silent_p.S295S|TCF4_ENST00000561831.3_Silent_p.S265S|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000537856.3_Silent_p.S295S|TCF4_ENST00000564999.1_Silent_p.S425S|TCF4_ENST00000566286.1_Silent_p.S422S|TCF4_ENST00000543082.1_Silent_p.S383S|TCF4_ENST00000568740.1_Silent_p.S400S|TCF4_ENST00000564403.2_Silent_p.S431S|TCF4_ENST00000398339.1_Silent_p.S527S|TCF4_ENST00000564228.1_Silent_p.S354S|TCF4_ENST00000354452.3_Silent_p.S425S	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	425					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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 RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTCCATTATGAGAAGGTCCAA	0.498																																						dbGAP											0													119.0	106.0	111.0					18																	52921803		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1275T>C	18.37:g.52921803A>G			B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S527	ENST00000356073.4	37	c.1581	CCDS11960.1	18																																																																																			TCF4	-	NULL	ENSG00000196628		0.498	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	169	0.00	0	A	NM_003199		52921803	52921803	-1	no_errors	ENST00000398339	ensembl	human	known	69_37n	silent	83	10.75	10	SNP	1.000	G
TCTN2	79867	genome.wustl.edu	37	12	124189164	124189164	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr12:124189164C>T	ENST00000303372.5	+	15	1826	c.1698C>T	c.(1696-1698)atC>atT	p.I566I	TCTN2_ENST00000426174.2_Silent_p.I565I|RP11-338K17.8_ENST00000538837.1_lincRNA	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	566					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACCTGAGCATCCGCATCCTCA	0.522																																						dbGAP											0													81.0	64.0	70.0					12																	124189164		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1698C>T	12.37:g.124189164C>T			A8K7Y8|B3KPW5|Q9H966	Silent	SNP	pfam_DUF1619	p.I566	ENST00000303372.5	37	c.1698	CCDS9253.1	12																																																																																			TCTN2	-	NULL	ENSG00000168778		0.522	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	79	0.00	0	C	NM_024809		124189164	124189164	+1	no_errors	ENST00000303372	ensembl	human	known	69_37n	silent	70	36.36	40	SNP	0.999	T
TET1	80312	genome.wustl.edu	37	10	70333955	70333955	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:70333955G>A	ENST00000373644.4	+	2	2069	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	620	Sufficient for binding to genomic CpG islands.				chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGATCTGTAAGAAAAGAAAAT	0.463																																						dbGAP											0													70.0	74.0	73.0					10																	70333955		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1860G>A	10.37:g.70333955G>A			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.K620	ENST00000373644.4	37	c.1860	CCDS7281.1	10																																																																																			TET1	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000138336		0.463	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	92	0.00	0	G	NM_030625		70333955	70333955	+1	no_errors	ENST00000373644	ensembl	human	known	69_37n	silent	58	17.14	12	SNP	1.000	A
TGM2	7052	genome.wustl.edu	37	20	36779424	36779424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr20:36779424G>A	ENST00000361475.2	-	4	642	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	TGM2_ENST00000536701.1_Nonsense_Mutation_p.Q76*|TGM2_ENST00000536724.1_Nonsense_Mutation_p.Q97*	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	157					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)	ACATACTCCTGCCGCTCCTCT	0.582																																						dbGAP											0													119.0	111.0	114.0					20																	36779424		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.469C>T	20.37:g.36779424G>A	ENSP00000355330:p.Gln157*		E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Nonsense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.Q157*	ENST00000361475.2	37	c.469	CCDS13302.1	20	.	.	.	.	.	.	.	.	.	.	g	10.41	1.342040	0.24339	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724;ENST00000373403;ENST00000453095	.	.	.	5.34	1.9	0.25705	.	0.999489	0.08098	N	0.998222	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-9.9391	9.1459	0.36933	0.0:0.2549:0.4873:0.2579	.	.	.	.	X	157;76;97;157;157	.	ENSP00000355330:Q157X	Q	-	1	0	TGM2	36212838	0.000000	0.05858	0.116000	0.21606	0.057000	0.15508	-0.065000	0.11617	1.238000	0.43771	0.645000	0.84053	CAG	TGM2	-	NULL	ENSG00000198959		0.582	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	134	0.00	0	G	NM_198951		36779424	36779424	-1	no_errors	ENST00000361475	ensembl	human	known	69_37n	nonsense	65	12.16	9	SNP	0.007	A
THBS4	7060	genome.wustl.edu	37	5	79354065	79354065	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:79354065T>A	ENST00000350881.2	+	4	767	c.577T>A	c.(577-579)Tca>Aca	p.S193T	THBS4_ENST00000511733.1_Missense_Mutation_p.S102T|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	193					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGTGAGAGGCTCACTGTTCCA	0.542																																						dbGAP											0													57.0	49.0	52.0					5																	79354065		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.577T>A	5.37:g.79354065T>A	ENSP00000339730:p.Ser193Thr		B2R909|Q86TG2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.S193T	ENST00000350881.2	37	c.577	CCDS4049.1	5	.	.	.	.	.	.	.	.	.	.	T	11.27	1.587751	0.28268	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.86956	-2.08;-2.19	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);	0.203357	0.44285	D	0.000470	T	0.74543	0.3730	N	0.16307	0.4	0.36590	D	0.87403	B	0.17465	0.022	B	0.14023	0.01	T	0.70842	-0.4762	10	0.11182	T	0.66	-11.3587	9.8786	0.41220	0.2508:0.0:0.0:0.7492	.	193	P35443	TSP4_HUMAN	T	193;102	ENSP00000339730:S193T;ENSP00000422298:S102T	ENSP00000339730:S193T	S	+	1	0	THBS4	79389821	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	2.722000	0.47269	2.154000	0.67381	0.533000	0.62120	TCA	THBS4	-	superfamily_ConA-like_lec_gl	ENSG00000113296		0.542	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	89	0.00	0	T			79354065	79354065	+1	no_errors	ENST00000350881	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	0.999	A
THNSL1	79896	genome.wustl.edu	37	10	25314045	25314045	+	Silent	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:25314045C>G	ENST00000524413.1	+	3	2240	c.1893C>G	c.(1891-1893)acC>acG	p.T631T	THNSL1_ENST00000376356.4_Silent_p.T631T			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	631						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	TTAACTCCACCTATAATACTT	0.428																																						dbGAP											0													88.0	91.0	90.0					10																	25314045		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1893C>G	10.37:g.25314045C>G			B3KWL1|D3DRV3|Q5VV21	Silent	SNP	pfam_Shikimate_kinase,pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,prints_Shikimate_kinase,tigrfam_Thr_synthase	p.T631	ENST00000524413.1	37	c.1893	CCDS7147.1	10																																																																																			THNSL1	-	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase	ENSG00000185875		0.428	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	THNSL1	HGNC	protein_coding	OTTHUMT00000394913.1	128	0.00	0	C	NM_024838		25314045	25314045	+1	no_errors	ENST00000376356	ensembl	human	known	69_37n	silent	253	10.60	30	SNP	1.000	G
TIFA	92610	genome.wustl.edu	37	4	113199484	113199484	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:113199484A>C	ENST00000361717.3	-	2	370	c.89T>G	c.(88-90)aTa>aGa	p.I30R	TIFA_ENST00000500655.2_Missense_Mutation_p.I30R	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	30					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TGACTGAAATATTCCACACTG	0.418																																						dbGAP											0													91.0	98.0	95.0					4																	113199484		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.89T>G	4.37:g.113199484A>C	ENSP00000354911:p.Ile30Arg			Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,pfscan_FHA_dom	p.I30R	ENST00000361717.3	37	c.89	CCDS34051.1	4	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242126	0.58995	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.49432	0.78;0.78	5.92	4.74	0.60224	.	0.243457	0.44285	D	0.000466	T	0.46833	0.1413	M	0.63428	1.95	0.25397	N	0.988477	P	0.46395	0.877	B	0.41723	0.365	T	0.48790	-0.9004	10	0.87932	D	0	0.1671	12.013	0.53299	0.9328:0.0:0.0672:0.0	.	30	Q96CG3	TIFA_HUMAN	R	30	ENSP00000354911:I30R;ENSP00000424231:I30R	ENSP00000354911:I30R	I	-	2	0	TIFA	113418933	0.163000	0.22920	0.314000	0.25224	0.714000	0.41099	2.418000	0.44662	1.071000	0.40834	0.528000	0.53228	ATA	TIFA	-	superfamily_SMAD_FHA_domain	ENSG00000145365		0.418	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIFA	HGNC	protein_coding	OTTHUMT00000363647.2	62	0.00	0	A	NM_052864		113199484	113199484	-1	no_errors	ENST00000361717	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	0.157	C
TIFA	92610	genome.wustl.edu	37	4	113199487	113199487	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:113199487C>G	ENST00000361717.3	-	2	367	c.86G>C	c.(85-87)gGa>gCa	p.G29A	TIFA_ENST00000500655.2_Missense_Mutation_p.G29A	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	29					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		CTGAAATATTCCACACTGCAA	0.433																																						dbGAP											0													91.0	97.0	95.0					4																	113199487		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.86G>C	4.37:g.113199487C>G	ENSP00000354911:p.Gly29Ala			Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,pfscan_FHA_dom	p.G29A	ENST00000361717.3	37	c.86	CCDS34051.1	4	.	.	.	.	.	.	.	.	.	.	C	1.003	-0.690183	0.03303	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.42513	0.97;0.97	5.92	2.82	0.32997	.	0.787302	0.12211	N	0.489354	T	0.28995	0.0720	M	0.63428	1.95	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.39354	-0.9618	10	0.05721	T	0.95	-6.1247	0.2221	0.00169	0.2184:0.293:0.1803:0.3083	.	29	Q96CG3	TIFA_HUMAN	A	29	ENSP00000354911:G29A;ENSP00000424231:G29A	ENSP00000354911:G29A	G	-	2	0	TIFA	113418936	0.000000	0.05858	0.039000	0.18376	0.712000	0.41017	0.380000	0.20602	0.822000	0.34565	0.650000	0.86243	GGA	TIFA	-	superfamily_SMAD_FHA_domain	ENSG00000145365		0.433	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIFA	HGNC	protein_coding	OTTHUMT00000363647.2	61	0.00	0	C	NM_052864		113199487	113199487	-1	no_errors	ENST00000361717	ensembl	human	known	69_37n	missense	20	35.48	11	SNP	0.001	G
TIRAP	114609	genome.wustl.edu	37	11	126161294	126161294	+	Intron	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:126161294A>G	ENST00000392680.2	+	4	472				RP11-712L6.7_ENST00000533378.1_RNA|TIRAP_ENST00000392678.3_Intron|RP11-712L6.5_ENST00000528876.1_5'Flank|TIRAP_ENST00000392679.1_Intron	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein						3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CCAAACACAGACCTGAGCAGT	0.502																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"""MyD88 adapter-like"""	606252	"""Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"""			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.67+438A>G	11.37:g.126161294A>G			B3KW65|Q56UH9|Q56UI0|Q8N5E5	RNA	SNP	-	NULL	ENST00000392680.2	37	NULL	CCDS8472.1	11																																																																																			TIRAP	-	-	ENSG00000150455		0.502	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TIRAP	HGNC	protein_coding	OTTHUMT00000277092.1	17	0.00	0	A	NM_148910		126161294	126161294	+1	no_errors	ENST00000462401	ensembl	human	known	69_37n	rna	10	52.38	11	SNP	0.000	G
TMED6	146456	genome.wustl.edu	37	16	69381693	69381693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:69381693C>A	ENST00000288025.3	-	3	542	c.487G>T	c.(487-489)Gag>Tag	p.E163*	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Nonstop_Mutation_p.*155L	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	163					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TTCCTTACCTCAATTGCATCC	0.413																																						dbGAP											0													265.0	254.0	257.0					16																	69381693		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.487G>T	16.37:g.69381693C>A	ENSP00000288025:p.Glu163*		Q6UXN5	Nonsense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.E163*	ENST00000288025.3	37	c.487	CCDS10878.1	16	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611625	0.87258	.	.	ENSG00000157315	ENST00000288025	.	.	.	5.26	2.14	0.27477	.	0.262004	0.42682	D	0.000663	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-4.6684	8.0626	0.30642	0.0:0.6847:0.1148:0.2005	.	.	.	.	X	163	.	ENSP00000288025:E163X	E	-	1	0	TMED6	67939194	0.649000	0.27322	0.991000	0.47740	0.903000	0.53119	1.150000	0.31639	0.279000	0.22186	0.655000	0.94253	GAG	TMED6	-	pfam_GOLD	ENSG00000157315		0.413	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED6	HGNC	protein_coding	OTTHUMT00000268951.1	459	0.00	0	C	NM_144676		69381693	69381693	-1	no_errors	ENST00000288025	ensembl	human	known	69_37n	nonsense	108	78.49	394	SNP	0.993	A
TMEM143	55260	genome.wustl.edu	37	19	48836625	48836626	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:48836625_48836626insAC	ENST00000293261.3	-	8	1546_1547	c.1230_1231insGT	c.(1228-1233)gtgaccfs	p.T411fs	TMEM143_ENST00000377431.2_Frame_Shift_Ins_p.T311fs|TMEM143_ENST00000435956.3_Frame_Shift_Ins_p.T376fs|TMEM143_ENST00000436660.2_Frame_Shift_Ins_p.T346fs|TMEM143_ENST00000541566.1_Frame_Shift_Ins_p.T301fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	411					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CCGTTGAAGGTCACCTCACAGC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.1230_1231insGT	19.37:g.48836625_48836626insAC	ENSP00000293261:p.Thr411fs		A8K656|Q6UXY4|Q9NV49	Frame_Shift_Ins	INS	pfam_DUF3754	p.T410fs	ENST00000293261.3	37	c.1231_1230	CCDS12716.1	19																																																																																			TMEM143	-	NULL	ENSG00000161558		0.629	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM143	HGNC	protein_coding	OTTHUMT00000465622.1	46	0.00	0	-	NM_018273		48836625	48836626	-1	no_errors	ENST00000293261	ensembl	human	known	69_37n	frame_shift_ins	63	29.21	26	INS	0.491:0.561	AC
TMEM223	79064	genome.wustl.edu	37	11	62559273	62559274	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:62559273_62559274insC	ENST00000307366.7	-	1	219_220	c.193_194insG	c.(193-195)gcafs	p.A65fs	TMEM223_ENST00000525631.1_Frame_Shift_Ins_p.A65fs|TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000533048.1_5'Flank	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	65						integral component of membrane (GO:0016021)											GGACACGGCTGCCACAGCCATG	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.194dupG	11.37:g.62559275_62559275dupC	ENSP00000303987:p.Ala65fs		Q504S0|Q86YD4|Q8WUC5|Q96HG0	Frame_Shift_Ins	INS	NULL	p.A65fs	ENST00000307366.7	37	c.194_193	CCDS44628.1	11																																																																																			TMEM223	-	NULL	ENSG00000168569		0.673	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM223	HGNC	protein_coding	OTTHUMT00000395674.1	21	0.00	0	-			62559273	62559274	-1	no_errors	ENST00000307366	ensembl	human	known	69_37n	frame_shift_ins	19	69.84	44	INS	0.004:0.005	C
TMEM41B	440026	genome.wustl.edu	37	11	9316935	9316935	+	Splice_Site	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:9316935C>G	ENST00000528080.1	-	3	578		c.e3-1		TMEM41B_ENST00000527813.1_Splice_Site|TMEM41B_ENST00000533723.1_Splice_Site	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B						nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TCTTTCTTCTCTGAAGAAATA	0.323																																						dbGAP											0													42.0	40.0	41.0					11																	9316935		2198	4286	6484	-	-	-	SO:0001630	splice_region_variant	0			D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.240-1G>C	11.37:g.9316935C>G			D3DQU9|E9PP29|Q15055|Q4G0P0	Splice_Site	SNP	-	e3-1	ENST00000528080.1	37	c.240-1	CCDS31424.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357227	0.82243	.	.	ENSG00000166471	ENST00000299596;ENST00000528080;ENST00000527813;ENST00000533723	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4997	0.95089	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM41B	9273511	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.734000	0.84928	2.702000	0.92279	0.655000	0.94253	.	TMEM41B	-	-	ENSG00000166471		0.323	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM41B	HGNC	protein_coding	OTTHUMT00000385940.2	162	0.00	0	C		Intron	9316935	9316935	-1	no_errors	ENST00000299596	ensembl	human	known	69_37n	splice_site	70	32.04	33	SNP	1.000	G
TMEM223	79064	genome.wustl.edu	37	11	62559276	62559276	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr11:62559276A>T	ENST00000307366.7	-	1	217	c.191T>A	c.(190-192)gTg>gAg	p.V64E	TMEM223_ENST00000525631.1_Missense_Mutation_p.V64E|TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000533048.1_5'Flank	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	64						integral component of membrane (GO:0016021)											CACGGCTGCCACAGCCATGGA	0.672																																						dbGAP											0													11.0	20.0	17.0					11																	62559276		1889	4073	5962	-	-	-	SO:0001583	missense	0				CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.191T>A	11.37:g.62559276A>T	ENSP00000303987:p.Val64Glu		Q504S0|Q86YD4|Q8WUC5|Q96HG0	Nonsense_Mutation	SNP	NULL	p.C63*	ENST00000307366.7	37	c.189	CCDS44628.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.033124|4.033124	0.75504|0.75504	.|.	.|.	ENSG00000168569|ENSG00000168569	ENST00000528367|ENST00000525631;ENST00000307366	.|T;T	.|0.39787	.|1.06;1.06	5.94|5.94	-1.02|-1.02	0.10135|0.10135	.|.	.|1.808910	.|0.02763	.|N	.|0.118846	.|T	.|0.36386	.|0.0965	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|P	.|0.39157	.|0.662	.|B	.|0.39419	.|0.299	.|T	.|0.21861	.|-1.0233	.|9	.|.	.|.	.|.	0.0594|0.0594	4.4793|4.4793	0.11759|0.11759	0.3521:0.3385:0.3094:0.0|0.3521:0.3385:0.3094:0.0	.|.	.|64	.|A0PJW6	.|TM223_HUMAN	X|E	63|64	.|ENSP00000436670:V64E;ENSP00000303987:V64E	.|.	C|V	-|-	3|2	2|0	TMEM223|TMEM223	62315852|62315852	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.215000|0.215000	0.24574|0.24574	-0.161000|-0.161000	0.10026|0.10026	-0.113000|-0.113000	0.11958|0.11958	0.459000|0.459000	0.35465|0.35465	TGT|GTG	TMEM223	-	NULL	ENSG00000168569		0.672	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM223	HGNC	protein_coding	OTTHUMT00000395674.1	17	0.00	0	A			62559276	62559276	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000528367	ensembl	human	putative	69_37n	nonsense	21	66.67	46	SNP	0.000	T
TMEM74	157753	genome.wustl.edu	37	8	109796471	109796471	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:109796471G>A	ENST00000297459.3	-	2	1035	c.857C>T	c.(856-858)aCg>aTg	p.T286M	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	286					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.T286K(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)			GTTTTCATTCGTGCTGGTTTT	0.443																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											87.0	84.0	85.0					8																	109796471		2203	4300	6503	-	-	-	SO:0001583	missense	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.857C>T	8.37:g.109796471G>A	ENSP00000297459:p.Thr286Met			Missense_Mutation	SNP	NULL	p.T286M	ENST00000297459.3	37	c.857	CCDS6310.1	8	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717498	0.30413	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.96	0.702	0.18110	.	1.099310	0.06758	N	0.781274	T	0.46870	0.1415	L	0.36672	1.1	0.09310	N	1	D	0.57899	0.981	P	0.47015	0.534	T	0.61043	-0.7142	9	0.62326	D	0.03	1.172	21.061	0.99945	0.0:0.6621:0.3379:0.0	.	286	Q96NL1	TMM74_HUMAN	M	286	.	ENSP00000297459:T286M	T	-	2	0	TMEM74	109865647	0.239000	0.23836	0.001000	0.08648	0.291000	0.27294	2.646000	0.46630	-0.149000	0.11215	0.655000	0.94253	ACG	TMEM74	-	NULL	ENSG00000164841		0.443	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	HGNC	protein_coding	OTTHUMT00000380755.1	155	0.00	0	G	NM_153015		109796471	109796471	-1	no_errors	ENST00000297459	ensembl	human	known	69_37n	missense	178	17.05	37	SNP	0.001	A
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	96	0.00	0	G	NM_000546		7577539	7577539	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	53	72.59	143	SNP	1.000	A
TOB1	10140	genome.wustl.edu	37	17	48940734	48940734	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:48940734G>A	ENST00000268957.3	-	3	1073	c.645C>T	c.(643-645)gaC>gaT	p.D215D	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000499247.2_Silent_p.D215D	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	215					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|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)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCTTCAAGAGGTCATTCACAT	0.527																																					NSCLC(144;643 1919 24513 29423 40686)	dbGAP											0													98.0	100.0	99.0					17																	48940734		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.645C>T	17.37:g.48940734G>A			B2R9T0|D3DTY3|Q4KMQ0	Silent	SNP	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.D215	ENST00000268957.3	37	c.645	CCDS11576.1	17																																																																																			TOB1	-	NULL	ENSG00000141232		0.527	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TOB1	HGNC	protein_coding	OTTHUMT00000368364.1	122	0.00	0	G			48940734	48940734	-1	no_errors	ENST00000268957	ensembl	human	known	69_37n	silent	112	60.98	175	SNP	1.000	A
TRIM54	57159	genome.wustl.edu	37	2	27527883	27527883	+	Silent	SNP	A	A	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:27527883A>C	ENST00000380075.2	+	4	910	c.570A>C	c.(568-570)gcA>gcC	p.A190A	TRIM54_ENST00000296098.4_Silent_p.A232A	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	190	Mediates microtubule-binding and homooligomerization. {ECO:0000250}.				cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGTGCAAGCAGTGATCACAC	0.617																																						dbGAP											0													119.0	86.0	97.0					2																	27527883		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.570A>C	2.37:g.27527883A>C			A5D8T7|Q53SY4|Q9BYV3	Silent	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A232	ENST00000380075.2	37	c.696	CCDS1746.2	2																																																																																			TRIM54	-	NULL	ENSG00000138100		0.617	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM54	HGNC	protein_coding	OTTHUMT00000214199.2	134	0.74	1	A	NM_187841		27527883	27527883	+1	no_errors	ENST00000296098	ensembl	human	known	69_37n	silent	54	32.50	26	SNP	0.996	C
TRIML1	339976	genome.wustl.edu	37	4	189064805	189064806	+	Intron	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:189064805_189064806insC	ENST00000332517.3	+	4	875				RP11-366H4.3_ENST00000501322.2_RNA|TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1						multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAGAAACACCTTGTGTTCACCA	0.47																																					Melanoma(31;213 1036 16579 23968 32372)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.736-186->C	4.37:g.189064805_189064806insC			Q96BE5	RNA	INS	-	NULL	ENST00000332517.3	37	NULL	CCDS3851.1	4																																																																																			TRIML1	-	-	ENSG00000184108		0.470	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1	50	0.00	0	-	NM_178556		189064805	189064806	+1	no_errors	ENST00000507581	ensembl	human	known	69_37n	rna	36	18.18	8	INS	0.000:0.000	C
TRIO	7204	genome.wustl.edu	37	5	14492843	14492843	+	Silent	SNP	C	C	G	rs147014315		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:14492843C>G	ENST00000344204.4	+	49	7824	c.7800C>G	c.(7798-7800)ccC>ccG	p.P2600P	TRIO_ENST00000537187.1_Silent_p.P2424P|TRIO_ENST00000344135.5_Silent_p.P99P	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2600	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCAGTGCCCCGCAGCTGAGG	0.567																																						dbGAP											0													52.0	47.0	49.0					5																	14492843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7800C>G	5.37:g.14492843C>G			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.P2600	ENST00000344204.4	37	c.7800	CCDS3883.1	5																																																																																			TRIO	-	superfamily_SH3_domain,smart_SH3_domain	ENSG00000038382		0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	107	0.00	0	C	NM_007118		14492843	14492843	+1	no_errors	ENST00000344204	ensembl	human	known	69_37n	silent	4	77.78	14	SNP	0.972	G
TRMT6	51605	genome.wustl.edu	37	20	5921819	5921819	+	Intron	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr20:5921819C>T	ENST00000203001.2	-	10	1346				TRMT6_ENST00000473131.1_Intron|TRMT6_ENST00000453074.2_Intron	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)						regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TTAAGAACTACTTCCTGGGAT	0.453																																						dbGAP											0													115.0	117.0	116.0					20																	5921819		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1216-34G>A	20.37:g.5921819C>T			B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	RNA	SNP	-	NULL	ENST00000203001.2	37	NULL	CCDS13093.1	20																																																																																			TRMT6	-	-	ENSG00000089195		0.453	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT6	HGNC	protein_coding	OTTHUMT00000077889.2	271	0.00	0	C			5921819	5921819	-1	no_errors	ENST00000466974	ensembl	human	known	69_37n	rna	197	14.72	34	SNP	0.000	T
GNPTG	84572	genome.wustl.edu	37	16	1399951	1399951	+	5'Flank	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:1399951G>C	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_Missense_Mutation_p.P236A	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				ACATCGAAGGGATCTGAGCCG	0.587																																						dbGAP											0													51.0	54.0	53.0					16																	1399951		2199	4300	6499	-	-	-	SO:0001631	upstream_gene_variant	0			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1399951G>C	Exception_encountered		B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom	p.P236A	ENST00000204679.4	37	c.706	CCDS10436.1	16	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821091	0.71028	.	.	ENSG00000007520	ENST00000007390	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	M	0.78049	2.395	0.80722	D	1	D	0.67145	0.996	P	0.60286	0.872	T	0.77598	-0.2528	9	0.42905	T	0.14	-19.5275	15.741	0.77894	0.0:0.0:1.0:0.0	.	236	Q9UJK0	TSR3_HUMAN	A	236	.	ENSP00000007390:P236A	P	-	1	0	C16orf42	1339952	1.000000	0.71417	0.999000	0.59377	0.539000	0.34962	6.988000	0.76212	2.315000	0.78130	0.561000	0.74099	CCC	TSR3	-	NULL	ENSG00000007520		0.587	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR3	HGNC	protein_coding	OTTHUMT00000109058.2	137	0.00	0	G	NM_032520		1399951	1399951	-1	no_errors	ENST00000007390	ensembl	human	known	69_37n	missense	8	46.67	7	SNP	1.000	C
TTC24	164118	genome.wustl.edu	37	1	156556333	156556333	+	Silent	SNP	T	T	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:156556333T>G	ENST00000368237.3	+	10	1740	c.1740T>G	c.(1738-1740)acT>acG	p.T580T	TTC24_ENST00000368236.3_Silent_p.T580T|AL365181.1_ENST00000581084.1_RNA			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	580										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCATCTGCACTATTGTGTGAC	0.627																																						dbGAP											0													44.0	58.0	54.0					1																	156556333		2075	4218	6293	-	-	-	SO:0001819	synonymous_variant	0				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1740T>G	1.37:g.156556333T>G			Q5T3H7	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L353R	ENST00000368237.3	37	c.1058	CCDS53379.1	1	.	.	.	.	.	.	.	.	.	.	T	3.693	-0.063049	0.07273	.	.	ENSG00000187862	ENST00000340086	.	.	.	5.03	-10.1	0.00402	.	.	.	.	.	T	0.05135	0.0137	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.08452	-1.0721	4	.	.	.	0.3052	4.5222	0.11964	0.3926:0.3905:0.1317:0.0852	.	.	.	.	R	353	.	.	L	+	2	0	TTC24	154822957	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.645000	0.00204	-3.043000	0.00262	-2.213000	0.00299	CTA	TTC24	-	NULL	ENSG00000187862		0.627	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC24	HGNC	protein_coding	OTTHUMT00000158547.1	119	0.00	0	T	XM_089384		156556333	156556333	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000340086	ensembl	human	known	69_37n	missense	123	34.92	66	SNP	0.000	G
CFAP46	54777	genome.wustl.edu	37	10	134743248	134743248	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:134743248G>A	ENST00000368586.5	-	9	1027	c.927C>T	c.(925-927)tcC>tcT	p.S309S	TTC40_ENST00000368582.2_Silent_p.S309S|TTC40_ENST00000368585.3_Silent_p.S309S	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGCAGGCAGAGGAGATCTCCA	0.507																																						dbGAP											0													86.0	85.0	85.0					10																	134743248		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000368586.5:c.927C>T	10.37:g.134743248G>A				Silent	SNP	NULL	p.S309	ENST00000368586.5	37	c.927	CCDS58101.1	10																																																																																			TTC40	-	NULL	ENSG00000171811		0.507	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	102	0.00	0	G			134743248	134743248	-1	no_errors	ENST00000368582	ensembl	human	known	69_37n	silent	43	44.16	34	SNP	0.012	A
CFAP46	54777	genome.wustl.edu	37	10	134743250	134743250	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:134743250A>T	ENST00000368586.5	-	9	1025	c.925T>A	c.(925-927)Tcc>Acc	p.S309T	TTC40_ENST00000368582.2_Missense_Mutation_p.S309T|TTC40_ENST00000368585.3_Missense_Mutation_p.S309T	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGGCAGAGGAGATCTCCATG	0.512																																						dbGAP											0													84.0	83.0	84.0					10																	134743250		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000368586.5:c.925T>A	10.37:g.134743250A>T	ENSP00000357575:p.Ser309Thr			Missense_Mutation	SNP	NULL	p.S309T	ENST00000368586.5	37	c.925	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	A	7.947	0.743992	0.15710	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	T;T;T	0.55052	0.54;0.54;0.54	4.02	-3.35	0.04928	.	1.975970	0.02812	U	0.124477	T	0.49098	0.1537	L	0.56769	1.78	0.09310	N	1	P	0.42871	0.792	B	0.37601	0.254	T	0.54951	-0.8216	10	0.36615	T	0.2	.	13.1808	0.59653	0.1599:0.748:0.0:0.0921	.	309	Q5SR76-1	.	T	309	ENSP00000357575:S309T;ENSP00000357571:S309T;ENSP00000357574:S309T	ENSP00000357571:S309T	S	-	1	0	C10orf93	134593240	0.001000	0.12720	0.000000	0.03702	0.067000	0.16453	-0.530000	0.06179	-0.628000	0.05582	0.459000	0.35465	TCC	TTC40	-	NULL	ENSG00000171811		0.512	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	98	0.00	0	A			134743250	134743250	-1	no_errors	ENST00000368582	ensembl	human	known	69_37n	missense	41	42.47	31	SNP	0.012	T
TTN	7273	genome.wustl.edu	37	2	179426732	179426732	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:179426732A>G	ENST00000591111.1	-	276	79428	c.79204T>C	c.(79204-79206)Tcc>Ccc	p.S26402P	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S25475P|TTN_ENST00000342175.6_Missense_Mutation_p.S19170P|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S28043P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19103P|TTN_ENST00000460472.2_Missense_Mutation_p.S18978P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26402	Ig-like 127.				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)			ACTGTTATGGATCCAGCACTG	0.373																																						dbGAP											0													52.0	53.0	53.0					2																	179426732		1889	4112	6001	-	-	-	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.79204T>C	2.37:g.179426732A>G	ENSP00000465570:p.Ser26402Pro		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.S25475P	ENST00000591111.1	37	c.76423		2	.	.	.	.	.	.	.	.	.	.	A	9.984	1.229031	0.22542	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	6.16	0.704	0.18121	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61999	0.2392	M	0.78637	2.42	0.27597	N	0.949109	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.003	T	0.59810	-0.7384	9	0.87932	D	0	.	4.1643	0.10300	0.573:0.1904:0.0579:0.1787	.	18978;19103;19170;26402	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	25475;18978;19170;19103;18976	ENSP00000343764:S25475P;ENSP00000434586:S18978P;ENSP00000340554:S19170P;ENSP00000352154:S19103P	ENSP00000340554:S19170P	S	-	1	0	TTN	179134978	0.909000	0.30893	0.870000	0.34147	0.986000	0.74619	1.142000	0.31540	0.513000	0.28278	0.528000	0.53228	TCC	TTN	-	pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	89	0.00	0	A	NM_133378		179426732	179426732	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	66	18.52	15	SNP	0.555	G
TTN	7273	genome.wustl.edu	37	2	179426743	179426743	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:179426743T>A	ENST00000591111.1	-	276	79417	c.79193A>T	c.(79192-79194)aAc>aTc	p.N26398I	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N25471I|TTN_ENST00000342175.6_Missense_Mutation_p.N19166I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N28039I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N19099I|TTN_ENST00000460472.2_Missense_Mutation_p.N18974I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26398	Ig-like 127.				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)			TCCAGCACTGTTTGAAACACA	0.373																																						dbGAP											0													50.0	52.0	51.0					2																	179426743		1885	4112	5997	-	-	-	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.79193A>T	2.37:g.179426743T>A	ENSP00000465570:p.Asn26398Ile		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.N25471I	ENST00000591111.1	37	c.76412		2	.	.	.	.	.	.	.	.	.	.	T	11.61	1.690680	0.29962	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	6.16	4.99	0.66335	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77294	0.4109	M	0.91140	3.18	0.51767	D	0.999939	D;D;D;P	0.54772	0.968;0.968;0.968;0.942	P;P;P;P	0.57620	0.824;0.824;0.824;0.761	T	0.82497	-0.0428	9	0.87932	D	0	.	13.8654	0.63585	0.0:0.0:0.1269:0.8731	.	18974;19099;19166;26398	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	25471;18974;19166;19099;18972	ENSP00000343764:N25471I;ENSP00000434586:N18974I;ENSP00000340554:N19166I;ENSP00000352154:N19099I	ENSP00000340554:N19166I	N	-	2	0	TTN	179134989	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.260000	0.72502	1.115000	0.41800	0.528000	0.53228	AAC	TTN	-	pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	82	0.00	0	T	NM_133378		179426743	179426743	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	59	18.06	13	SNP	1.000	A
TTPAL	79183	genome.wustl.edu	37	20	43115318	43115318	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr20:43115318C>A	ENST00000372904.3	+	5	865	c.722C>A	c.(721-723)cCa>cAa	p.P241Q	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Missense_Mutation_p.P241Q	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	241	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						ATCATAAAACCATTTCTAAAG	0.368																																						dbGAP											0													80.0	77.0	78.0					20																	43115318		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.722C>A	20.37:g.43115318C>A	ENSP00000361995:p.Pro241Gln		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.P241Q	ENST00000372904.3	37	c.722	CCDS13332.2	20	.	.	.	.	.	.	.	.	.	.	C	32	5.147120	0.94603	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000456317	D;D;D	0.86956	-2.19;-2.19;-2.19	5.93	5.93	0.95920	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.95329	0.8484	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95457	0.8539	10	0.87932	D	0	-15.2692	20.3437	0.98782	0.0:1.0:0.0:0.0	.	178;241	B2RA57;Q9BTX7	.;TTPAL_HUMAN	Q	241;241;207	ENSP00000262605:P241Q;ENSP00000361995:P241Q;ENSP00000412720:P207Q	ENSP00000262605:P241Q	P	+	2	0	TTPAL	42548732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.800000	0.85949	2.821000	0.97095	0.555000	0.69702	CCA	TTPAL	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000124120		0.368	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPAL	HGNC	protein_coding	OTTHUMT00000106886.2	215	0.00	0	C	NM_024331		43115318	43115318	+1	no_errors	ENST00000262605	ensembl	human	known	69_37n	missense	159	10.17	18	SNP	1.000	A
UBE2R2	54926	genome.wustl.edu	37	9	33922571	33922571	+	IGR	DEL	G	G	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:33922571delG	ENST00000263228.3	+	0	4075				UBAP2_ENST00000379235.1_Frame_Shift_Del_p.P336fs|UBAP2_ENST00000360802.1_Frame_Shift_Del_p.P1097fs|UBAP2_ENST00000379238.1_Frame_Shift_Del_p.P1097fs|UBAP2_ENST00000449054.1_Frame_Shift_Del_p.P1097fs|UBAP2_ENST00000379239.4_Frame_Shift_Del_p.P830fs|UBAP2_ENST00000539807.1_Frame_Shift_Del_p.P852fs	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		GCAGGGAGCTGGGCTGGCTGC	0.617											OREG0019144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													44.0	43.0	43.0					9																	33922571		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33922571delG		843	D3DRL5|Q9NX64	Frame_Shift_Del	DEL	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.S1098fs	ENST00000263228.3	37	c.3291	CCDS6546.1	9																																																																																			UBAP2	-	NULL	ENSG00000137073		0.617	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000052118.1	114	0.00	0	G	NM_017811		33922571	33922571	-1	no_errors	ENST00000360802	ensembl	human	known	69_37n	frame_shift_del	111	12.60	16	DEL	1.000	-
UNC80	285175	genome.wustl.edu	37	2	210681810	210681811	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:210681810_210681811insAA	ENST00000439458.1	+	10	1593_1594	c.1513_1514insAA	c.(1513-1515)cgafs	p.R505fs	UNC80_ENST00000272845.6_Frame_Shift_Ins_p.R505fs	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	505					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGAAGACAGGCGAGGAATTGAG	0.52																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	Exception_encountered	2.37:g.210681810_210681811insAA	ENSP00000391088:p.Arg505fs		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Frame_Shift_Ins	INS	NULL	p.R505fs	ENST00000439458.1	37	c.1513_1514	CCDS46504.1	2																																																																																			UNC80	-	NULL	ENSG00000144406		0.520	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		111	0.00	0	-	NM_182587		210681810	210681811	+1	no_errors	ENST00000439458	ensembl	human	known	69_37n	frame_shift_ins	162	42.76	121	INS	0.969:1.000	AA
UGT1A1	54658	genome.wustl.edu	37	2	234526443	234526443	+	Silent	SNP	A	A	C	rs146181115		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr2:234526443A>C	ENST00000373450.4	+	1	153	c.90A>C	c.(88-90)gtA>gtC	p.V30V		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	32					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AGCTGCTGGTAGTGCCCATGG	0.567																																						dbGAP											0													94.0	77.0	83.0					2																	234526443		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.90A>C	2.37:g.234526443A>C			A6NJC3|B8K286	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V30	ENST00000373450.4	37	c.90	CCDS33402.1	2																																																																																			UGT1A8	-	pfam_UDP_glucos_trans	ENSG00000242366		0.567	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UGT1A8	HGNC	protein_coding	OTTHUMT00000130994.1	171	0.00	0	A			234526443	234526443	+1	no_errors	ENST00000373450	ensembl	human	known	69_37n	silent	235	19.52	57	SNP	0.573	C
USP21	27005	genome.wustl.edu	37	1	161131732	161131732	+	Intron	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:161131732C>T	ENST00000289865.8	+	3	821				RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Intron|USP21_ENST00000368001.1_Intron	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21						histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGAAACATGCATGGGATGGG	0.498																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.601-96C>T	1.37:g.161131732C>T			Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	RNA	SNP	-	NULL	ENST00000289865.8	37	NULL	CCDS30920.1	1																																																																																			USP21	-	-	ENSG00000143258		0.498	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	98	0.00	0	C			161131732	161131732	+1	no_errors	ENST00000487163	ensembl	human	known	69_37n	rna	155	20.92	41	SNP	0.000	T
USH2A	7399	genome.wustl.edu	37	1	216138717	216138717	+	Silent	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:216138717G>C	ENST00000307340.3	-	37	7448	c.7062C>G	c.(7060-7062)cgC>cgG	p.R2354R	USH2A_ENST00000366943.2_Silent_p.R2354R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2354	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H (in USH2A). {ECO:0000269|PubMed:17085681}.		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)		GTCCATTAGGGCGAAAAGGTG	0.398										HNSCC(13;0.011)																												dbGAP											0													151.0	149.0	150.0					1																	216138717		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.7062C>G	1.37:g.216138717G>C			Q5VVM9|Q6S362|Q9NS27	Silent	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.R2354	ENST00000307340.3	37	c.7062	CCDS31025.1	1																																																																																			USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	225	0.00	0	G	NM_007123		216138717	216138717	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	silent	162	21.36	44	SNP	0.132	C
USP43	124739	genome.wustl.edu	37	17	9631430	9631431	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:9631430_9631431insG	ENST00000285199.7	+	15	2591_2592	c.2495_2496insG	c.(2494-2499)ttggtgfs	p.V833fs	USP43_ENST00000570475.1_Frame_Shift_Ins_p.V828fs|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	833					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TCCGTCGAGTTGGTGGAGTACT	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2497dupG	17.37:g.9631432_9631432dupG	ENSP00000285199:p.Val833fs		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Frame_Shift_Ins	INS	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.V833fs	ENST00000285199.7	37	c.2495_2496	CCDS45610.1	17																																																																																			USP43	-	NULL	ENSG00000154914		0.589	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	68	0.00	0	-	NM_153210		9631430	9631431	+1	no_errors	ENST00000285199	ensembl	human	known	69_37n	frame_shift_ins	42	23.64	13	INS	1.000:1.000	G
USP36	57602	genome.wustl.edu	37	17	76799656	76799656	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:76799656T>C	ENST00000542802.3	-	16	3064	c.2621A>G	c.(2620-2622)tAc>tGc	p.Y874C	USP36_ENST00000312010.6_Missense_Mutation_p.Y874C|USP36_ENST00000449938.2_Missense_Mutation_p.Y479C			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	874					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTCCCTCCTGTACATGGGGCT	0.642																																						dbGAP											0													77.0	65.0	69.0					17																	76799656		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2621A>G	17.37:g.76799656T>C	ENSP00000441214:p.Tyr874Cys		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Y874C	ENST00000542802.3	37	c.2621	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	T	9.480	1.097894	0.20552	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.17213	3.3;2.29;3.3	4.92	-6.84	0.01687	.	1.516060	0.03632	N	0.238017	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	B;B	0.15719	0.008;0.014	B;B	0.10450	0.002;0.005	T	0.28650	-1.0037	10	0.37606	T	0.19	0.517	2.1847	0.03883	0.2292:0.1736:0.1008:0.4964	.	874;874	Q9P275;Q9P275-2	UBP36_HUMAN;.	C	874;479;874	ENSP00000310590:Y874C;ENSP00000401119:Y479C;ENSP00000441214:Y874C	ENSP00000310590:Y874C	Y	-	2	0	USP36	74311251	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.724000	0.01865	-0.781000	0.04548	-0.912000	0.02778	TAC	USP36	-	NULL	ENSG00000055483		0.642	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	60	0.00	0	T	NM_025090		76799656	76799656	-1	no_errors	ENST00000312010	ensembl	human	known	69_37n	missense	44	50.00	45	SNP	0.000	C
USPL1	10208	genome.wustl.edu	37	13	31232435	31232435	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr13:31232435T>C	ENST00000255304.4	+	9	2563	c.2221T>C	c.(2221-2223)Tca>Cca	p.S741P		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	741					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AACATCTAAGTCATTACAGAA	0.373																																					Ovarian(60;318 1180 1554 28110 31601)	dbGAP											0													82.0	87.0	85.0					13																	31232435		2203	4300	6503	-	-	-	SO:0001583	missense	0			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2221T>C	13.37:g.31232435T>C	ENSP00000255304:p.Ser741Pro		Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	pfscan_Peptidase_C19	p.S741P	ENST00000255304.4	37	c.2221	CCDS9336.1	13	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770240	0.31320	.	.	ENSG00000132952	ENST00000255304	T	0.19669	2.13	5.52	-7.8	0.01214	.	0.859266	0.10245	N	0.697853	T	0.09642	0.0237	N	0.20401	0.57	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.31280	-0.9949	10	0.34782	T	0.22	0.4262	7.5349	0.27704	0.0:0.3783:0.2073:0.4144	.	741	Q5W0Q7	USPL1_HUMAN	P	741	ENSP00000255304:S741P	ENSP00000255304:S741P	S	+	1	0	USPL1	30130435	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.066000	0.11598	-0.989000	0.03485	0.533000	0.62120	TCA	USPL1	-	NULL	ENSG00000132952		0.373	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	111	0.00	0	T	NM_005800		31232435	31232435	+1	no_errors	ENST00000255304	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	0.000	C
VCAN	1462	genome.wustl.edu	37	5	82817654	82817654	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr5:82817654G>C	ENST00000265077.3	+	7	4094	c.3529G>C	c.(3529-3531)Gat>Cat	p.D1177H	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D1129H|VCAN_ENST00000342785.4_Missense_Mutation_p.D1177H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1177	GAG-alpha (glucosaminoglycan attachment domain).				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)	ATCCCTAGAGGATATTGATTT	0.383																																						dbGAP											0													105.0	108.0	107.0					5																	82817654		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.3529G>C	5.37:g.82817654G>C	ENSP00000265077:p.Asp1177His		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.D1177H	ENST00000265077.3	37	c.3529	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	1.366	-0.587364	0.03799	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.85171	-1.83;-1.93;-1.95	5.55	-0.112	0.13572	.	0.405452	0.21252	N	0.077635	T	0.68622	0.3021	N	0.22421	0.69	0.09310	N	1	B;P	0.34462	0.302;0.454	B;B	0.30495	0.116;0.05	T	0.57027	-0.7881	10	0.18276	T	0.48	.	8.1097	0.30907	0.0:0.1303:0.6498:0.2199	.	1177;1177	P13611-3;P13611	.;CSPG2_HUMAN	H	1177;1177;1129	ENSP00000265077:D1177H;ENSP00000342768:D1177H;ENSP00000425959:D1129H	ENSP00000265077:D1177H	D	+	1	0	VCAN	82853410	0.992000	0.36948	0.647000	0.29507	0.329000	0.28539	0.639000	0.24690	0.042000	0.15717	-0.467000	0.05162	GAT	VCAN	-	NULL	ENSG00000038427		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	138	0.00	0	G	NM_004385		82817654	82817654	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	missense	108	23.40	33	SNP	0.009	C
VLDLR	7436	genome.wustl.edu	37	9	2643253	2643254	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:2643253_2643254insC	ENST00000382100.3	+	5	898_899	c.542_543insC	c.(541-546)gatggcfs	p.G182fs	VLDLR_ENST00000382099.2_Frame_Shift_Ins_p.G182fs|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	182	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GACTGCAGCGATGGCAGTGATG	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	Exception_encountered	9.37:g.2643253_2643254insC	ENSP00000371532:p.Gly182fs		B2RMZ7|D3DRH6|Q5VVF6	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G182fs	ENST00000382100.3	37	c.542_543	CCDS6446.1	9																																																																																			VLDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,pfscan_LDrepeatLR_classA_rpt	ENSG00000147852		0.564	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	40	0.00	0	-	NM_003383		2643253	2643254	+1	no_errors	ENST00000382100	ensembl	human	known	69_37n	frame_shift_ins	51	32.00	24	INS	1.000:1.000	C
VLDLR	7436	genome.wustl.edu	37	9	2643257	2643257	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:2643257delC	ENST00000382100.3	+	5	902	c.546delC	c.(544-546)ggcfs	p.G182fs	VLDLR_ENST00000382099.2_Frame_Shift_Del_p.G182fs|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	182	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GCAGCGATGGCAGTGATGAGC	0.572																																						dbGAP											0													94.0	85.0	88.0					9																	2643257		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.546delC	9.37:g.2643257delC	ENSP00000371532:p.Gly182fs		B2RMZ7|D3DRH6|Q5VVF6	Frame_Shift_Del	DEL	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S183fs	ENST00000382100.3	37	c.546	CCDS6446.1	9																																																																																			VLDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,pfscan_LDrepeatLR_classA_rpt	ENSG00000147852		0.572	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	41	0.00	0	C	NM_003383		2643257	2643257	+1	no_errors	ENST00000382100	ensembl	human	known	69_37n	frame_shift_del	56	30.00	24	DEL	1.000	-
VPRBP	9730	genome.wustl.edu	37	3	51450832	51450832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr3:51450832G>A	ENST00000335891.5	-	13	2602	c.2593C>T	c.(2593-2595)Cag>Tag	p.Q865*				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1314	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCATCTGCCTGCAACATAGCT	0.423																																						dbGAP											0													57.0	54.0	55.0					3																	51450832		1921	4145	6066	-	-	-	SO:0001587	stop_gained	0			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2593C>T	3.37:g.51450832G>A	ENSP00000338857:p.Gln865*		Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.Q865*	ENST00000335891.5	37	c.2593		3	.	.	.	.	.	.	.	.	.	.	G	39	7.651094	0.98412	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-13.7223	19.0814	0.93185	0.0:0.0:1.0:0.0	.	.	.	.	X	885;865	.	ENSP00000338857:Q865X	Q	-	1	0	VPRBP	51425872	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.466000	0.97665	2.522000	0.85027	0.643000	0.83706	CAG	VPRBP	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold	ENSG00000145041		0.423	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		181	0.00	0	G	NM_014703		51450832	51450832	-1	no_errors	ENST00000335891	ensembl	human	known	69_37n	nonsense	163	38.72	103	SNP	1.000	A
VPS4B	9525	genome.wustl.edu	37	18	61071015	61071015	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr18:61071015C>G	ENST00000238497.5	-	5	612	c.409G>C	c.(409-411)Gct>Cct	p.A137P	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	137					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TCAAGTCCAGCAACGTCACTC	0.338																																						dbGAP											0													81.0	73.0	76.0					18																	61071015		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.409G>C	18.37:g.61071015C>G	ENSP00000238497:p.Ala137Pro		Q69HW4|Q9GZS7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.A137P	ENST00000238497.5	37	c.409	CCDS11983.1	18	.	.	.	.	.	.	.	.	.	.	C	34	5.368688	0.95900	.	.	ENSG00000119541	ENST00000238497	D	0.95069	-3.6	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.98365	0.9457	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.974;0.974;0.974	D	0.99167	1.0863	10	0.87932	D	0	-21.9271	19.8193	0.96586	0.0:1.0:0.0:0.0	.	137;137;137	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	P	137	ENSP00000238497:A137P	ENSP00000238497:A137P	A	-	1	0	VPS4B	59221995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.792000	0.85828	2.699000	0.92147	0.650000	0.86243	GCT	VPS4B	-	NULL	ENSG00000119541		0.338	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	182	0.00	0	C	NM_004869		61071015	61071015	-1	no_errors	ENST00000238497	ensembl	human	known	69_37n	missense	71	13.25	11	SNP	1.000	G
WDR26	80232	genome.wustl.edu	37	1	224612368	224612368	+	Intron	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr1:224612368G>A	ENST00000414423.2	-	4	821				WDR26_ENST00000295024.6_Intron|WDR26_ENST00000366852.2_Silent_p.F211F	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26							cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TGACATGACAGAAAGCAGCAG	0.433																																						dbGAP											0													60.0	53.0	55.0					1																	224612368		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.628-12C>T	1.37:g.224612368G>A			A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Silent	SNP	pfscan_LisH_dimerisation	p.F211	ENST00000414423.2	37	c.633	CCDS31037.2	1																																																																																			WDR26	-	NULL	ENSG00000162923		0.433	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	HGNC	protein_coding	OTTHUMT00000091760.2	110	0.00	0	G	NM_025160		224612368	224612368	-1	no_errors	ENST00000366852	ensembl	human	known	69_37n	silent	247	29.43	103	SNP	1.000	A
WHSC1	7468	genome.wustl.edu	37	4	1936971	1936971	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr4:1936971C>G	ENST00000382895.3	+	9	2087	c.1656C>G	c.(1654-1656)gaC>gaG	p.D552E	WHSC1_ENST00000508803.1_Missense_Mutation_p.D552E|WHSC1_ENST00000382891.5_Missense_Mutation_p.D552E|WHSC1_ENST00000382892.2_Missense_Mutation_p.D552E|WHSC1_ENST00000398261.1_Missense_Mutation_p.D552E|WHSC1_ENST00000503128.1_Missense_Mutation_p.D552E|WHSC1_ENST00000514045.1_Missense_Mutation_p.D552E|WHSC1_ENST00000420906.2_Missense_Mutation_p.D552E	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	552					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCAGGACGGACAAGCACAGTC	0.478			T	IGH@	MM																																	dbGAP		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													191.0	185.0	187.0					4																	1936971		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1656C>G	4.37:g.1936971C>G	ENSP00000372351:p.Asp552Glu		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.D552E	ENST00000382895.3	37	c.1656	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	C	7.835	0.720627	0.15372	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261	D;T;D;D;T;D;T;T	0.94828	-3.53;1.13;-3.53;-3.53;1.13;-3.53;1.12;1.12	5.7	-0.0199	0.13958	.	0.203098	0.33895	N	0.004456	D	0.86883	0.6040	L	0.34521	1.04	0.80722	D	1	B;B;B	0.12630	0.006;0.002;0.006	B;B;B	0.12156	0.007;0.003;0.007	T	0.72880	-0.4158	10	0.25751	T	0.34	.	4.3511	0.11157	0.0:0.2048:0.3499:0.4454	.	552;552;552	O96028-3;O96028;O96028-5	.;NSD2_HUMAN;.	E	552	ENSP00000423972:D552E;ENSP00000421681:D552E;ENSP00000372347:D552E;ENSP00000372348:D552E;ENSP00000399251:D552E;ENSP00000372351:D552E;ENSP00000425761:D552E;ENSP00000381311:D552E	ENSP00000308780:D552E	D	+	3	2	WHSC1	1906769	0.973000	0.33851	0.979000	0.43373	0.989000	0.77384	-0.058000	0.11750	0.041000	0.15688	0.644000	0.83932	GAC	WHSC1	-	NULL	ENSG00000109685		0.478	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	286	0.00	0	C	NM_133330		1936971	1936971	+1	no_errors	ENST00000382891	ensembl	human	known	69_37n	missense	97	41.21	68	SNP	1.000	G
WNK2	65268	genome.wustl.edu	37	9	96015239	96015240	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:96015239_96015240insT	ENST00000297954.4	+	8	1909_1910	c.1909_1910insT	c.(1909-1911)cttfs	p.L637fs	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Frame_Shift_Ins_p.L623fs|WNK2_ENST00000395477.2_Frame_Shift_Ins_p.L637fs|WNK2_ENST00000349097.3_Frame_Shift_Ins_p.L249fs|WNK2_ENST00000427277.2_Frame_Shift_Ins_p.L249fs	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	637					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAGCGTGATGCTTGGCTCCCTT	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1911dupT	9.37:g.96015241_96015241dupT	ENSP00000297954:p.Leu637fs		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Frame_Shift_Ins	INS	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.G638fs	ENST00000297954.4	37	c.1909_1910		9																																																																																			WNK2	-	NULL	ENSG00000165238		0.683	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	17	0.00	0	-	NM_006648		96015239	96015240	+1	no_errors	ENST00000297954	ensembl	human	known	69_37n	frame_shift_ins	6	40.00	4	INS	0.985:0.944	T
WNK2	65268	genome.wustl.edu	37	9	96015243	96015244	+	Frame_Shift_Ins	INS	-	-	C	rs376724876		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr9:96015243_96015244insC	ENST00000297954.4	+	8	1913_1914	c.1913_1914insC	c.(1912-1917)ggctccfs	p.S639fs	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Frame_Shift_Ins_p.S625fs|WNK2_ENST00000395477.2_Frame_Shift_Ins_p.S639fs|WNK2_ENST00000349097.3_Frame_Shift_Ins_p.S251fs|WNK2_ENST00000427277.2_Frame_Shift_Ins_p.S251fs	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	639					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTGATGCTTGGCTCCCTTGCCG	0.693																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1914dupC	9.37:g.96015244_96015244dupC	ENSP00000297954:p.Ser639fs		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Frame_Shift_Ins	INS	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.S639fs	ENST00000297954.4	37	c.1913_1914		9																																																																																			WNK2	-	NULL	ENSG00000165238		0.693	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	17	0.00	0	-	NM_006648		96015243	96015244	+1	no_errors	ENST00000297954	ensembl	human	known	69_37n	frame_shift_ins	6	40.00	4	INS	0.469:0.438	C
WTAP	9589	genome.wustl.edu	37	6	160164787	160164787	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr6:160164787G>A	ENST00000358372.4	+	5	1993	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Missense_Mutation_p.R79Q	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	79					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CTTGTAATGCGACTAGCAACC	0.378																																						dbGAP											0													76.0	71.0	73.0					6																	160164787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.236G>A	6.37:g.160164787G>A	ENSP00000351141:p.Arg79Gln		Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	NULL	p.R79Q	ENST00000358372.4	37	c.236	CCDS5266.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.445357	0.96187	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	T;T	0.59083	0.29;0.29	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.74647	2.275	0.80722	D	1	P;D	0.56287	0.953;0.975	B;P	0.45753	0.38;0.492	T	0.60596	-0.7232	10	0.42905	T	0.14	-0.796	20.33	0.98713	0.0:0.0:1.0:0.0	.	79;79	Q15007;Q5TCL9	FL2D_HUMAN;.	Q	79	ENSP00000351141:R79Q;ENSP00000336911:R79Q	ENSP00000336911:R79Q	R	+	2	0	WTAP	160084777	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.852000	0.99516	2.810000	0.96702	0.585000	0.79938	CGA	WTAP	-	NULL	ENSG00000146457		0.378	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTAP	HGNC	protein_coding	OTTHUMT00000042905.1	121	0.00	0	G	NM_152857		160164787	160164787	+1	no_errors	ENST00000358372	ensembl	human	known	69_37n	missense	19	68.85	42	SNP	0.974	A
ZBTB10	65986	genome.wustl.edu	37	8	81399784	81399784	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:81399784C>G	ENST00000430430.1	+	2	1518	c.739C>G	c.(739-741)Caa>Gaa	p.Q247E	ZBTB10_ENST00000426744.2_Missense_Mutation_p.Q247E|ZBTB10_ENST00000379091.4_Intron|Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000455036.3_Missense_Mutation_p.Q247E	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	247					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)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GCAGAAGCTCCAATGCTCCTT	0.602																																						dbGAP											0													32.0	36.0	35.0					8																	81399784		2017	4173	6190	-	-	-	SO:0001583	missense	0			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.739C>G	8.37:g.81399784C>G	ENSP00000387462:p.Gln247Glu		A4FVD0|Q86W96|Q8IXI9|Q96MH9	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.Q247E	ENST00000430430.1	37	c.739	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509570	0.27036	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.09163	3.02;3.02;3.01	4.42	3.51	0.40186	.	0.537151	0.15687	N	0.249611	T	0.07007	0.0178	N	0.08118	0	0.34474	D	0.703126	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.15484	0.004;0.004;0.013	T	0.12066	-1.0562	10	0.72032	D	0.01	.	13.4936	0.61411	0.1576:0.8424:0.0:0.0	.	103;247;247	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	E	247;247;247;75	ENSP00000387462:Q247E;ENSP00000412036:Q247E;ENSP00000416134:Q247E	ENSP00000416134:Q247E	Q	+	1	0	ZBTB10	81562339	0.993000	0.37304	0.122000	0.21767	0.020000	0.10135	2.978000	0.49305	1.019000	0.39547	0.650000	0.86243	CAA	ZBTB10	-	NULL	ENSG00000205189		0.602	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	69	0.00	0	C	NM_023929		81399784	81399784	+1	no_errors	ENST00000426744	ensembl	human	known	69_37n	missense	51	26.76	19	SNP	0.999	G
ZNF233	353355	genome.wustl.edu	37	19	44771096	44771096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:44771096C>T	ENST00000391958.2	+	4	347	c.220C>T	c.(220-222)Caa>Taa	p.Q74*	ZNF233_ENST00000589522.1_Nonsense_Mutation_p.Q74*|ZNF233_ENST00000334152.1_Missense_Mutation_p.P191L|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_Nonsense_Mutation_p.Q74*	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	74	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(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GACAGAAATCCAAGGAGATGG	0.488																																						dbGAP											0													89.0	87.0	88.0					19																	44771096		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.220C>T	19.37:g.44771096C>T	ENSP00000375820:p.Gln74*		B2RN78|B2RN79|Q86WL8	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.Q74*	ENST00000391958.2	37	c.220	CCDS33047.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.55|18.55	3.648474|3.648474	0.67358|0.67358	.|.	.|.	ENSG00000159915|ENSG00000159915	ENST00000334152|ENST00000391958	T|.	0.12984|.	2.63|.	3.56|3.56	-0.447|-0.447	0.12234|0.12234	.|.	.|.	.|.	.|.	.|.	T|.	0.20455|.	0.0492|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29427|.	-1.0012|.	6|.	0.59425|0.19590	D|T	0.04|0.45	2.7468|2.7468	4.9753|4.9753	0.14136|0.14136	0.0:0.5:0.3548:0.1452|0.0:0.5:0.3548:0.1452	.|.	.|.	.|.	.|.	L|X	191|74	ENSP00000334957:P191L|.	ENSP00000334957:P191L|ENSP00000375820:Q74X	P|Q	+|+	2|1	0|0	ZNF233|ZNF233	49462936|49462936	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.333000|0.333000	0.28666|0.28666	0.009000|0.009000	0.13219|0.13219	-0.089000|-0.089000	0.12484|0.12484	0.511000|0.511000	0.50034|0.50034	CCA|CAA	ZNF233	-	pfscan_Krueppel-associated_box	ENSG00000159915		0.488	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	151	0.00	0	C	NM_181756		44771096	44771096	+1	no_errors	ENST00000391958	ensembl	human	known	69_37n	nonsense	403	44.12	319	SNP	0.000	T
ZNF423	23090	genome.wustl.edu	37	16	49764856	49764856	+	Missense_Mutation	SNP	C	C	G	rs200725224		TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:49764856C>G	ENST00000561648.1	-	3	156	c.103G>C	c.(103-105)Gat>Cat	p.D35H	ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000262383.2_Missense_Mutation_p.D35H|ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	35					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)				GTTTTCTGATCGCACTCTGGC	0.498																																						dbGAP											0													282.0	242.0	255.0					16																	49764856		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.103G>C	16.37:g.49764856C>G	ENSP00000455426:p.Asp35His		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D35H	ENST00000561648.1	37	c.103	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324315	0.41197	.	.	ENSG00000102935	ENST00000262383	T	0.09817	2.94	4.87	3.92	0.45320	.	0.451235	0.21619	N	0.071666	T	0.06600	0.0169	N	0.08118	0	0.36418	D	0.864152	B	0.31910	0.346	B	0.35550	0.205	T	0.43507	-0.9387	9	.	.	.	.	13.4044	0.60903	0.0:0.9228:0.0:0.0772	.	35	Q2M1K9	ZN423_HUMAN	H	35	ENSP00000262383:D35H	.	D	-	1	0	ZNF423	48322357	0.962000	0.33011	0.998000	0.56505	0.693000	0.40251	2.425000	0.44723	1.167000	0.42706	0.205000	0.17691	GAT	ZNF423	-	NULL	ENSG00000102935		0.498	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	314	0.00	0	C	NM_015069		49764856	49764856	-1	no_errors	ENST00000262383	ensembl	human	known	69_37n	missense	222	16.17	43	SNP	0.998	G
ZNF460	10794	genome.wustl.edu	37	19	57802751	57802751	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:57802751T>A	ENST00000360338.3	+	3	1164	c.842T>A	c.(841-843)gTg>gAg	p.V281E	ZNF460_ENST00000537645.1_Missense_Mutation_p.V240E	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	281					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)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCCTTTTGTGTGCAATGAA	0.502																																						dbGAP											0													86.0	80.0	82.0					19																	57802751		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.842T>A	19.37:g.57802751T>A	ENSP00000353491:p.Val281Glu		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	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.V281E	ENST00000360338.3	37	c.842	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.993593	0.00439	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.38077	1.16;1.16	1.83	-3.66	0.04489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	N	0.01729	-0.75	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.23797	-1.0178	9	0.05959	T	0.93	.	6.3709	0.21481	0.6993:0.0:0.1316:0.1691	.	281	Q14592	ZN460_HUMAN	E	240;281	ENSP00000446167:V240E;ENSP00000353491:V281E	ENSP00000353491:V281E	V	+	2	0	ZNF460	62494563	0.000000	0.05858	0.005000	0.12908	0.189000	0.23516	-2.240000	0.01197	-1.819000	0.01216	-1.437000	0.01076	GTG	ZNF460	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197714		0.502	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1	109	0.00	0	T	NM_006635		57802751	57802751	+1	no_errors	ENST00000360338	ensembl	human	known	69_37n	missense	156	31.44	72	SNP	0.000	A
ZNF460	10794	genome.wustl.edu	37	19	57802758	57802758	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:57802758T>A	ENST00000360338.3	+	3	1171	c.849T>A	c.(847-849)aaT>aaA	p.N283K	ZNF460_ENST00000537645.1_Missense_Mutation_p.N242K	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	283					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)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGTGTGCAATGAATGTGGAA	0.502																																						dbGAP											0													87.0	81.0	83.0					19																	57802758		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.849T>A	19.37:g.57802758T>A	ENSP00000353491:p.Asn283Lys		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	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.N283K	ENST00000360338.3	37	c.849	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	T	5.625	0.300103	0.10622	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.15834	2.39;2.39	1.83	-1.35	0.09114	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03739	0.0106	N	0.01686	-0.76	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.36841	-0.9731	9	0.02654	T	1	.	0.7874	0.01051	0.2184:0.1299:0.1678:0.4839	.	283	Q14592	ZN460_HUMAN	K	242;283	ENSP00000446167:N242K;ENSP00000353491:N283K	ENSP00000353491:N283K	N	+	3	2	ZNF460	62494570	0.000000	0.05858	0.003000	0.11579	0.483000	0.33249	-7.346000	0.00038	-0.516000	0.06470	0.528000	0.53228	AAT	ZNF460	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197714		0.502	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1	109	0.00	0	T	NM_006635		57802758	57802758	+1	no_errors	ENST00000360338	ensembl	human	known	69_37n	missense	165	33.47	83	SNP	0.000	A
ZNF460	10794	genome.wustl.edu	37	19	57803103	57803103	+	Silent	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:57803103G>A	ENST00000360338.3	+	3	1516	c.1194G>A	c.(1192-1194)ggG>ggA	p.G398G	ZNF460_ENST00000537645.1_Silent_p.G357G	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	398					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)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGAATGTGGGAAAGCCTTTA	0.463																																						dbGAP											0													81.0	85.0	84.0					19																	57803103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1194G>A	19.37:g.57803103G>A			A4FU64|B4DNX9|Q2VPC7|Q6VSF8	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.G398	ENST00000360338.3	37	c.1194	CCDS12949.1	19																																																																																			ZNF460	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197714		0.463	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1	214	0.00	0	G	NM_006635		57803103	57803103	+1	no_errors	ENST00000360338	ensembl	human	known	69_37n	silent	319	15.38	58	SNP	0.994	A
ZNF518A	9849	genome.wustl.edu	37	10	97919091	97919091	+	RNA	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr10:97919091G>C	ENST00000534948.1	+	0	3869							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTGGAACTGTGACTAAGGAGC	0.428																																						dbGAP											0													62.0	61.0	61.0					10																	97919091		1859	4103	5962	-	-	-			0			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97919091G>C			A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-	ENSG00000177853		0.428	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		58	0.00	0	G	NM_014803		97919091	97919091	+1	no_errors	ENST00000316045	ensembl	human	known	69_37n	rna	27	18.18	6	SNP	0.001	C
ZNF568	374900	genome.wustl.edu	37	19	37488450	37488450	+	Silent	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:37488450C>T	ENST00000455427.2	+	9	1994	c.1665C>T	c.(1663-1665)taC>taT	p.Y555Y		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	586					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAACCCTACGAGTGTAAGG	0.473																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.1665C>T	19.37:g.37488450C>T			B4DS92|E7ER33|Q6N060|Q8NA64	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.Y555	ENST00000455427.2	37	c.1665	CCDS56093.1	19																																																																																			ZNF568	-	pfscan_Znf_C2H2	ENSG00000198453		0.473	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	36	0.00	0	C	NM_198539		37488450	37488450	+1	no_errors	ENST00000455427	ensembl	human	known	69_37n	silent	32	20.00	8	SNP	0.070	T
ZNF572	137209	genome.wustl.edu	37	8	125988800	125988800	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr8:125988800A>T	ENST00000319286.5	+	3	444	c.290A>T	c.(289-291)aAt>aTt	p.N97I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AATTGGGGAAATTTTATAGCT	0.428										HNSCC(60;0.17)																												dbGAP											0													98.0	103.0	101.0					8																	125988800		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.290A>T	8.37:g.125988800A>T	ENSP00000319305:p.Asn97Ile		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N97I	ENST00000319286.5	37	c.290	CCDS6354.1	8	.	.	.	.	.	.	.	.	.	.	A	4.376	0.069358	0.08436	.	.	ENSG00000180938	ENST00000319286	T	0.08546	3.08	4.56	2.09	0.27110	.	0.607331	0.14632	N	0.307742	T	0.05640	0.0148	N	0.24115	0.695	0.09310	N	1	P	0.36438	0.553	B	0.33042	0.157	T	0.32375	-0.9909	10	0.72032	D	0.01	-0.0461	7.7117	0.28682	0.8198:0.0:0.1802:0.0	.	97	Q7Z3I7	ZN572_HUMAN	I	97	ENSP00000319305:N97I	ENSP00000319305:N97I	N	+	2	0	ZNF572	126057981	0.004000	0.15560	0.000000	0.03702	0.016000	0.09150	1.679000	0.37597	0.340000	0.23745	0.533000	0.62120	AAT	ZNF572	-	NULL	ENSG00000180938		0.428	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1	204	0.00	0	A	NM_152412		125988800	125988800	+1	no_errors	ENST00000319286	ensembl	human	known	69_37n	missense	364	14.55	62	SNP	0.003	T
ZNF646	9726	genome.wustl.edu	37	16	31089275	31089275	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr16:31089275G>A	ENST00000394979.2	+	1	2053	c.1630G>A	c.(1630-1632)Gca>Aca	p.A544T	ZNF646_ENST00000300850.5_Missense_Mutation_p.A544T			O15015	ZN646_HUMAN	zinc finger protein 646	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCCAGTGGAGGCAGAGGCAGC	0.607																																						dbGAP											0													38.0	39.0	39.0					16																	31089275		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1630G>A	16.37:g.31089275G>A	ENSP00000378429:p.Ala544Thr		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A544T	ENST00000394979.2	37	c.1630		16	.	.	.	.	.	.	.	.	.	.	G	4.083	0.013260	0.07912	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08370	3.1;3.12	5.01	-1.86	0.07760	.	.	.	.	.	T	0.05135	0.0137	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.41431	-0.9509	9	0.34782	T	0.22	0.3055	6.1734	0.20431	0.4895:0.1283:0.3822:0.0	.	544	O15015-2	.	T	544	ENSP00000300850:A544T;ENSP00000378429:A544T	ENSP00000300850:A544T	A	+	1	0	ZNF646	30996776	0.035000	0.19736	0.080000	0.20451	0.331000	0.28603	1.103000	0.31062	-0.148000	0.11234	0.655000	0.94253	GCA	ZNF646	-	NULL	ENSG00000167395		0.607	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	101	0.00	0	G	NM_014699		31089275	31089275	+1	no_errors	ENST00000300850	ensembl	human	known	69_37n	missense	9	57.14	12	SNP	0.001	A
ZNF77	58492	genome.wustl.edu	37	19	2934038	2934038	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:2934038A>G	ENST00000314531.4	-	4	1179	c.1087T>C	c.(1087-1089)Tac>Cac	p.Y363H		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGAGGGGTACCTGAAGGCT	0.517																																						dbGAP											0													70.0	62.0	65.0					19																	2934038		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1087T>C	19.37:g.2934038A>G	ENSP00000319053:p.Tyr363His		Q86XJ3|Q9NPP0	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.Y363H	ENST00000314531.4	37	c.1087	CCDS12099.1	19	.	.	.	.	.	.	.	.	.	.	A	7.466	0.645649	0.14451	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.08370	3.1	2.38	-1.48	0.08745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	N	0.03948	-0.315	0.09310	N	1	D	0.53745	0.962	P	0.46389	0.515	T	0.17837	-1.0356	9	0.15066	T	0.55	.	0.9996	0.01474	0.5034:0.1885:0.1241:0.184	.	363	Q15935	ZNF77_HUMAN	H	157;363	ENSP00000319053:Y363H	ENSP00000319053:Y363H	Y	-	1	0	ZNF77	2885038	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-2.412000	0.01039	-0.480000	0.06803	0.402000	0.26972	TAC	ZNF77	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175691		0.517	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	87	0.00	0	A	NM_021217		2934038	2934038	-1	no_errors	ENST00000314531	ensembl	human	known	69_37n	missense	144	12.65	21	SNP	0.000	G
ZNF700	90592	genome.wustl.edu	37	19	12060148	12060149	+	Missense_Mutation	DNP	GG	GG	CC			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:12060148_12060149GG>CC	ENST00000254321.5	+	4	1452_1453	c.1309_1310GG>CC	c.(1309-1311)GGt>CCt	p.G437P	ZNF700_ENST00000482090.1_Missense_Mutation_p.G419P|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCGAGTGCACGGTGGGACTCAC	0.48																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	Exception_encountered	19.37:g.12060148_12060149delinsCC	ENSP00000254321:p.Gly437Pro		B9EGU4	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.G437R|p.G437A	ENST00000254321.5	37	c.1309|c.1310	CCDS32915.1	19																																																																																			ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.480	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	126|127	0.00	0	G	NM_144566		12060148|12060149	12060148|12060149	+1	no_errors	ENST00000254321	ensembl	human	known	69_37n	missense	60	45.54|45.45	51|50	SNP	0.054|0.042	C
ZNF862	643641	genome.wustl.edu	37	7	149558861	149558861	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr7:149558861C>T	ENST00000223210.4	+	7	2857	c.2612C>T	c.(2611-2613)aCg>aTg	p.T871M	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	871					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GTGAACGCCACGCTGGGCCGC	0.602																																						dbGAP											0													30.0	34.0	32.0					7																	149558861		2122	4227	6349	-	-	-	SO:0001583	missense	0			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2612C>T	7.37:g.149558861C>T	ENSP00000223210:p.Thr871Met		A0AUL8	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.T871M	ENST00000223210.4	37	c.2612	CCDS47741.1	7	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986188	0.35036	.	.	ENSG00000106479	ENST00000223210	T	0.01076	5.37	5.38	3.54	0.40534	.	0.600256	0.15846	N	0.241787	T	0.00998	0.0033	L	0.27053	0.805	0.09310	N	1	B	0.28208	0.203	B	0.19666	0.026	T	0.50250	-0.8850	10	0.34782	T	0.22	-36.2775	6.7737	0.23609	0.1742:0.7364:0.0:0.0894	.	871	O60290	ZN862_HUMAN	M	871	ENSP00000223210:T871M	ENSP00000223210:T871M	T	+	2	0	ZNF862	149189794	0.002000	0.14202	0.032000	0.17829	0.775000	0.43874	0.742000	0.26216	0.629000	0.30376	0.650000	0.86243	ACG	ZNF862	-	NULL	ENSG00000106479		0.602	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	HGNC	protein_coding	OTTHUMT00000350165.1	43	0.00	0	C	NM_001099220		149558861	149558861	+1	no_errors	ENST00000223210	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	0.079	T
ZNF90	7643	genome.wustl.edu	37	19	20229739	20229739	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr19:20229739G>C	ENST00000418063.2	+	4	1488	c.1376G>C	c.(1375-1377)gGc>gCc	p.G459A	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	459					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GAAGAATGTGGCAAAGCCTTC	0.393																																						dbGAP											0													63.0	59.0	60.0					19																	20229739		692	1591	2283	-	-	-	SO:0001583	missense	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1376G>C	19.37:g.20229739G>C	ENSP00000410466:p.Gly459Ala		B9EH87	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.G459A	ENST00000418063.2	37	c.1376	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565899	0.45694	.	.	ENSG00000213988	ENST00000418063	T	0.21361	2.01	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39253	0.1071	M	0.74389	2.26	0.27375	N	0.955567	D	0.76494	0.999	D	0.65233	0.933	T	0.13872	-1.0493	8	.	.	.	.	7.4594	0.27285	0.0:0.0:1.0:0.0	.	459	Q03938	ZNF90_HUMAN	A	459	ENSP00000410466:G459A	.	G	+	2	0	ZNF90	20090739	0.985000	0.35326	0.090000	0.20809	0.091000	0.18340	1.741000	0.38238	0.283000	0.22279	0.289000	0.19496	GGC	ZNF90	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213988		0.393	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	124	0.00	0	G	NM_007138		20229739	20229739	+1	no_errors	ENST00000418063	ensembl	human	known	69_37n	missense	109	37.50	66	SNP	0.997	C
ZZEF1	23140	genome.wustl.edu	37	17	3980278	3980278	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07R-01A-21W-A050-09	TCGA-A8-A07R-10B-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f377217c-399f-4b3f-9090-fa5189b2bfc6	33e470a6-8474-437d-9161-050d972d3fc8	g.chr17:3980278C>T	ENST00000381638.2	-	20	3119	c.2995G>A	c.(2995-2997)Ggc>Agc	p.G999S	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	999							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGAAACTGGCCCACATCTACC	0.358																																						dbGAP											0													47.0	47.0	47.0					17																	3980278		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2995G>A	17.37:g.3980278C>T	ENSP00000371051:p.Gly999Ser		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.G999S	ENST00000381638.2	37	c.2995	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	5.539	0.284310	0.10513	.	.	ENSG00000074755	ENST00000381638	T	0.19669	2.13	5.62	1.32	0.21799	.	0.753448	0.13621	N	0.374410	T	0.09949	0.0244	N	0.12182	0.205	0.35039	D	0.759505	B;B	0.12013	0.003;0.005	B;B	0.09377	0.003;0.004	T	0.25467	-1.0131	10	0.23302	T	0.38	1.3584	6.6559	0.22986	0.0:0.527:0.265:0.208	.	1000;999	O43149-3;O43149	.;ZZEF1_HUMAN	S	999	ENSP00000371051:G999S	ENSP00000371051:G999S	G	-	1	0	ZZEF1	3927027	0.842000	0.29525	0.347000	0.25668	0.197000	0.23852	1.022000	0.30052	0.311000	0.23014	-0.258000	0.10820	GGC	ZZEF1	-	NULL	ENSG00000074755		0.358	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	117	0.00	0	C	NM_015113		3980278	3980278	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	missense	104	53.36	119	SNP	0.761	T
