#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
AARD	441376	genome.wustl.edu	37	8	117950643	117950643	+	Missense_Mutation	SNP	C	C	T	rs542421964		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:117950643C>T	ENST00000378279.3	+	1	206	c.161C>T	c.(160-162)cCg>cTg	p.P54L		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	54					lung development (GO:0030324)												GCCGCCAGCCCGCTGCTGGAG	0.731																																																	0													13.0	14.0	14.0					8																	117950643		2177	4265	6442	SO:0001583	missense	0			AB181519, BC140924	CCDS34935.1	8q24.11	2012-04-19	2012-04-19	2012-04-19	ENSG00000205002	ENSG00000205002			33842	protein-coding gene	gene with protein product	"""Alanine and arginine-rich domain-containing protein"""		"""chromosome 8 open reading frame 85"""	C8orf85			Standard	NM_001025357		Approved	LOC441376	uc003yof.3	Q4LEZ3	OTTHUMG00000164961	ENST00000378279.3:c.161C>T	8.37:g.117950643C>T	ENSP00000367528:p.Pro54Leu		A5PKU8	Missense_Mutation	SNP	NULL	p.P54L	ENST00000378279.3	37	c.161	CCDS34935.1	8	.	.	.	.	.	.	.	.	.	.	c	16.64	3.178955	0.57692	.	.	ENSG00000205002	ENST00000378279	T	0.31510	1.49	3.63	-4.08	0.03963	.	0.899723	0.09145	N	0.842440	T	0.12475	0.0303	L	0.29908	0.895	0.09310	N	1	B	0.18166	0.026	B	0.10450	0.005	T	0.38090	-0.9677	10	0.02654	T	1	-5.0042	0.3556	0.00356	0.3956:0.191:0.1714:0.242	.	54	Q4LEZ3	AARD_HUMAN	L	54	ENSP00000367528:P54L	ENSP00000367528:P54L	P	+	2	0	C8orf85	118019824	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.255000	0.02872	-0.691000	0.05135	-0.372000	0.07161	CCG	AARD	-	NULL	ENSG00000205002		0.731	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARD	HGNC	protein_coding	OTTHUMT00000381195.1	-	0.00	45	0	C	NM_001025357		117950643	+1	tier1	-	no_errors	ENST00000378279	ensembl	human	known	74_37	missense	52.11	34	37	SNP	0.000	T
AARS2	57505	genome.wustl.edu	37	6	44279946	44279946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:44279946G>A	ENST00000244571.4	-	2	300	c.298C>T	c.(298-300)Cga>Tga	p.R100*	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCACACGTCGGAAGCCTGCC	0.522																																																	0													121.0	90.0	101.0					6																	44279946		2203	4300	6503	SO:0001587	stop_gained	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.298C>T	6.37:g.44279946G>A	ENSP00000244571:p.Arg100*			Nonsense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.R100*	ENST00000244571.4	37	c.298	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.050792	0.97236	.	.	ENSG00000124608	ENST00000244571	.	.	.	4.9	4.9	0.64082	.	0.074256	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-7.4574	13.2689	0.60150	0.0:0.0:0.8416:0.1584	.	.	.	.	X	100	.	ENSP00000244571:R100X	R	-	1	2	AARS2	44387924	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	2.595000	0.46197	2.540000	0.85666	0.436000	0.28706	CGA	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.522	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2	-	0.00	34	0	G	NM_020745		44279946	-1	tier1	-	no_errors	ENST00000244571	ensembl	human	known	74_37	nonsense	21.59	69	19	SNP	1.000	A
ACSF2	80221	genome.wustl.edu	37	17	48541618	48541618	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:48541618G>A	ENST00000300441.4	+	10	1282	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	ACSF2_ENST00000541920.1_Missense_Mutation_p.R233Q|ACSF2_ENST00000427954.2_Missense_Mutation_p.R418Q|ACSF2_ENST00000502667.1_Missense_Mutation_p.R380Q|ACSF2_ENST00000504392.1_Missense_Mutation_p.R350Q	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	393					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GAGTTGATCCGAGCCATCATC	0.577																																																	0													136.0	125.0	129.0					17																	48541618		2203	4300	6503	SO:0001583	missense	0			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1178G>A	17.37:g.48541618G>A	ENSP00000300441:p.Arg393Gln		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R393Q	ENST00000300441.4	37	c.1178	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016600	0.54468	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.34	2.35	0.29111	AMP-dependent synthetase/ligase (1);	0.138953	0.42964	D	0.000625	T	0.34513	0.0900	L	0.50333	1.59	0.39871	D	0.973503	P;P;P;P	0.48407	0.833;0.91;0.833;0.833	B;B;B;B	0.43155	0.41;0.362;0.41;0.41	T	0.17379	-1.0371	10	0.44086	T	0.13	-2.3307	6.9135	0.24347	0.3778:0.0:0.6222:0.0	.	380;418;350;393	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	Q	393;233;350;418;380	ENSP00000300441:R393Q;ENSP00000437987:R233Q;ENSP00000425964:R350Q;ENSP00000401831:R418Q;ENSP00000421884:R380Q	ENSP00000300441:R393Q	R	+	2	0	ACSF2	45896617	0.925000	0.31364	1.000000	0.80357	0.964000	0.63967	0.612000	0.24283	1.184000	0.42957	0.561000	0.74099	CGA	ACSF2	-	pfam_AMP-dep_Synth/Lig	ENSG00000167107		0.577	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	-	0.00	25	0	G	NM_025149		48541618	+1	tier1	-	no_errors	ENST00000300441	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.996	A
ADARB2	105	genome.wustl.edu	37	10	1577814	1577814	+	Intron	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:1577814C>T	ENST00000381312.1	-	2	426				ADARB2-AS1_ENST00000381301.3_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGCGAGATTCCGGGCCATCCA	0.473																																																	0																																										SO:0001627	intron_variant	0			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.101-156459G>A	10.37:g.1577814C>T			B2RPJ5|Q5VUT6|Q5VW42	RNA	SNP	-	NULL	ENST00000381312.1	37	NULL	CCDS7058.1	10																																																																																			ADARB2-AS1	-	-	ENSG00000205696		0.473	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2-AS1	HGNC	protein_coding	OTTHUMT00000046426.1	-	0.00	42	0	C	NM_018702		1577814	+1	tier1	-	no_errors	ENST00000381301	ensembl	human	known	74_37	rna	59.02	25	36	SNP	0.200	T
ADCY3	109	genome.wustl.edu	37	2	25061488	25061488	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:25061488G>A	ENST00000260600.5	-	7	2210	c.1359C>T	c.(1357-1359)cgC>cgT	p.R453R	ADCY3_ENST00000405392.1_Silent_p.R86R	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	453					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGATGTGCACGCGCCTGGATT	0.637																																																	0													103.0	103.0	103.0					2																	25061488		2203	4300	6503	SO:0001819	synonymous_variant	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1359C>T	2.37:g.25061488G>A			B3KT86|Q53T54|Q9UDB1	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R453	ENST00000260600.5	37	c.1359	CCDS1715.1	2																																																																																			ADCY3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000138031		0.637	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	-	0.00	57	0	G			25061488	-1	tier1	-	no_errors	ENST00000260600	ensembl	human	known	74_37	silent	28.95	27	11	SNP	0.001	A
AHCY	191	genome.wustl.edu	37	20	32873245	32873245	+	Splice_Site	SNP	C	C	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:32873245C>G	ENST00000217426.2	-	9	1245		c.e9+1		AHCY_ENST00000538132.1_Splice_Site|CTD-3216D2.5_ENST00000609218.1_RNA	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase						cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AATAAACCCACCTTCTTGGGC	0.532																																																	0													64.0	61.0	62.0					20																	32873245		2203	4300	6503	SO:0001630	splice_region_variant	0			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1167+1G>C	20.37:g.32873245C>G			A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Splice_Site	SNP	-	e9+1	ENST00000217426.2	37	c.1167+1	CCDS13233.1	20	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798520	0.70567	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.522	0.90956	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AHCY	32336906	1.000000	0.71417	0.995000	0.50966	0.691000	0.40173	7.732000	0.84908	2.457000	0.83068	0.650000	0.86243	.	AHCY	-	-	ENSG00000101444		0.532	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCY	HGNC	protein_coding	OTTHUMT00000078773.2		0.00	29	0	C	NM_000687	Intron	32873245	-1			no_errors	ENST00000217426	ensembl	human	known	74_37	splice_site	6.25	45	3	SNP	1.000	G
ADRM1	11047	genome.wustl.edu	37	20	60878680	60878680	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:60878680C>T	ENST00000253003.2	+	2	102	c.56C>T	c.(55-57)tCc>tTc	p.S19F	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	19	Interaction with PSMD1.				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)			CGGGGCGCCTCCAACAAGTAC	0.622																																																	0													77.0	86.0	83.0					20																	60878680		2203	4299	6502	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.56C>T	20.37:g.60878680C>T	ENSP00000253003:p.Ser19Phe		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	pfam_26S_Psome_Ubiquitin-recp_Rpn13	p.S19F	ENST00000253003.2	37	c.56	CCDS13496.1	20	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353814	0.82243	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.63843	1.955	0.80722	D	1	D;P	0.58620	0.983;0.915	P;P	0.52672	0.706;0.514	T	0.76305	-0.3008	9	0.87932	D	0	-22.1321	17.0558	0.86533	0.0:1.0:0.0:0.0	.	19;19	B4DMP7;Q16186	.;ADRM1_HUMAN	F	19	.	ENSP00000253003:S19F	S	+	2	0	ADRM1	60312075	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	7.464000	0.80887	2.100000	0.63781	0.561000	0.74099	TCC	ADRM1	-	NULL	ENSG00000130706		0.622	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRM1	HGNC	protein_coding	OTTHUMT00000080007.1	-	0.00	34	0	C			60878680	+1	tier1	-	no_errors	ENST00000253003	ensembl	human	known	74_37	missense	35.71	27	15	SNP	1.000	T
AHRR	57491	genome.wustl.edu	37	5	428102	428102	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:428102G>A	ENST00000505113.1	+	8	945	c.901G>A	c.(901-903)Gca>Aca	p.A301T	AHRR_ENST00000316418.5_Missense_Mutation_p.A319T|AHRR_ENST00000512529.1_Missense_Mutation_p.A147T|AHRR_ENST00000506456.1_Missense_Mutation_p.A157T	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	301					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGCAGACACCGCAGCCACCGC	0.602																																																	0													22.0	27.0	25.0					5																	428102		2043	4189	6232	SO:0001583	missense	0			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.901G>A	5.37:g.428102G>A	ENSP00000424601:p.Ala301Thr		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.A319T	ENST00000505113.1	37	c.955	CCDS56355.1	5	.	.	.	.	.	.	.	.	.	.	g	5.706	0.314788	0.10789	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.46063	2.26;2.25;1.94;1.93;0.88	4.51	1.54	0.23209	.	1.733350	0.04084	U	0.310165	T	0.14743	0.0356	N	0.03891	-0.335	0.09310	N	1	B;B;B	0.32781	0.164;0.384;0.163	B;B;B	0.24974	0.026;0.057;0.032	T	0.17048	-1.0382	10	0.02654	T	1	.	2.2575	0.04059	0.1138:0.1562:0.492:0.238	.	157;301;319	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	T	301;319;147;157;24	ENSP00000424601:A301T;ENSP00000323816:A319T;ENSP00000424880:A147T;ENSP00000426932:A157T;ENSP00000426076:A24T	ENSP00000323816:A319T	A	+	1	0	AHRR	481102	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.136000	0.15974	-0.016000	0.14127	-0.394000	0.06481	GCA	AHRR	-	NULL	ENSG00000063438		0.602	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1		0.00	34	0	G	NM_020731		428102	+1			no_errors	ENST00000316418	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	A
ALS2CR11	151254	genome.wustl.edu	37	2	202436683	202436683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:202436683C>A	ENST00000286195.3	-	8	858	c.814G>T	c.(814-816)Gaa>Taa	p.E272*	ALS2CR11_ENST00000439140.1_Nonsense_Mutation_p.E272*|ALS2CR11_ENST00000439802.1_Nonsense_Mutation_p.E272*|ALS2CR11_ENST00000450242.1_Nonsense_Mutation_p.E272*	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	272								p.E272K(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TCTGTTCTTTCTGGAGGTGGT	0.358																																																	1	Substitution - Missense(1)	urinary_tract(1)											129.0	122.0	124.0					2																	202436683		2203	4300	6503	SO:0001587	stop_gained	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.814G>T	2.37:g.202436683C>A	ENSP00000286195:p.Glu272*		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Nonsense_Mutation	SNP	superfamily_C2_dom	p.E272*	ENST00000286195.3	37	c.814	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.520057	0.96416	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	.	.	.	5.49	4.61	0.57282	.	0.211842	0.32868	N	0.005556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.3523	0.32310	0.0:0.8219:0.0:0.178	.	.	.	.	X	272	.	ENSP00000286195:E272X	E	-	1	0	ALS2CR11	202144928	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.716000	0.37981	1.317000	0.45149	0.591000	0.81541	GAA	ALS2CR11	-	NULL	ENSG00000155754		0.358	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2		0.00	34	0	C	NM_152525		202436683	-1			no_errors	ENST00000286195	ensembl	human	known	74_37	nonsense	9.09	20	2	SNP	1.000	A
AMBRA1	55626	genome.wustl.edu	37	11	46568813	46568813	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:46568813delA	ENST00000458649.2	-	4	646	c.228delT	c.(226-228)aatfs	p.N76fs	AMBRA1_ENST00000533727.1_Frame_Shift_Del_p.N76fs|AMBRA1_ENST00000314845.3_Frame_Shift_Del_p.N76fs|AMBRA1_ENST00000426438.1_Frame_Shift_Del_p.N76fs|AMBRA1_ENST00000528950.1_Frame_Shift_Del_p.N76fs|AMBRA1_ENST00000298834.3_Frame_Shift_Del_p.N76fs|AMBRA1_ENST00000534300.1_Frame_Shift_Del_p.N76fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	76					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TAATATAGATATTATGGTTCA	0.448																																																	0													121.0	110.0	113.0					11																	46568813		2201	4299	6500	SO:0001589	frameshift_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.228delT	11.37:g.46568813delA	ENSP00000415327:p.Asn76fs		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N76fs	ENST00000458649.2	37	c.228		11																																																																																			AMBRA1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000110497		0.448	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1		0.00	16	0	A	NM_017749		46568813	-1	tier1		no_errors	ENST00000458649	ensembl	human	known	74_37	frame_shift_del	40.00	6	4	DEL	1.000	-
ANK3	288	genome.wustl.edu	37	10	61832462	61832462	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:61832462G>A	ENST00000280772.2	-	37	8368	c.8177C>T	c.(8176-8178)aCa>aTa	p.T2726I	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2726					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTGCGTGTGTGCCTTGTTC	0.433																																																	0													124.0	123.0	123.0					10																	61832462		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8177C>T	10.37:g.61832462G>A	ENSP00000280772:p.Thr2726Ile		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.T2726I	ENST00000280772.2	37	c.8177	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	5.960	0.361046	0.11296	.	.	ENSG00000151150	ENST00000280772	T	0.60672	0.17	5.82	4.84	0.62591	.	0.837651	0.09988	N	0.730135	T	0.28067	0.0692	N	0.01874	-0.695	0.51482	D	0.999923	B	0.02656	0.0	B	0.01281	0.0	T	0.25152	-1.0140	10	0.33141	T	0.24	.	3.218	0.06705	0.5722:0.0:0.4278:0.0	.	2726	Q12955	ANK3_HUMAN	I	2726	ENSP00000280772:T2726I	ENSP00000280772:T2726I	T	-	2	0	ANK3	61502468	0.931000	0.31567	0.013000	0.15412	0.612000	0.37316	5.713000	0.68415	1.369000	0.46134	0.555000	0.69702	ACA	ANK3	-	NULL	ENSG00000151150		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0.00	42	0	G	NM_020987		61832462	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.083	A
ANKRD44	91526	genome.wustl.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-	rs139294990		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)catfs	p.H565fs	ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000450567.1_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	0										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000409153.1:c.1693_1694delCA	2.37:g.197943393_197943394delTG	ENSP00000387141:p.His565fs		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H565fs	ENST00000409153.1	37	c.1694_1693		2																																																																																			ANKRD44	-	NULL	ENSG00000065413		0.411	ANKRD44-003	KNOWN	basic	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335114.3		0.00	25	0	TG	NM_153697		197943384	-1	tier1		no_errors	ENST00000409153	ensembl	human	known	74_37	frame_shift_del	17.39	19	4	DEL	0.001:0.002	-
AP2B1	163	genome.wustl.edu	37	17	33953664	33953664	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:33953664G>A	ENST00000262325.7	+	7	1294	c.741G>A	c.(739-741)cgG>cgA	p.R247R	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Silent_p.R247R|AP2B1_ENST00000312678.8_Silent_p.R247R|AP2B1_ENST00000592545.1_Silent_p.R209R|AP2B1_ENST00000538556.1_Silent_p.R190R|AP2B1_ENST00000589344.1_Silent_p.R247R	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	247					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)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|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)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TAACTCCCCGGCTATCCCATG	0.388																																																	0													82.0	86.0	85.0					17																	33953664		2203	4300	6503	SO:0001819	synonymous_variant	0			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.741G>A	17.37:g.33953664G>A			A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,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_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.R247	ENST00000262325.7	37	c.741	CCDS32622.1	17																																																																																			AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4	ENSG00000006125		0.388	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	-	0.00	41	0	G			33953664	+1	tier1	-	no_errors	ENST00000312678	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	A
AP3B1	8546	genome.wustl.edu	37	5	77477332	77477332	+	Splice_Site	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:77477332G>A	ENST00000255194.6	-	8	1116	c.941C>T	c.(940-942)gCg>gTg	p.A314V	AP3B1_ENST00000519295.1_Splice_Site_p.A265V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	314					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)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTAACATACCGCAGCATTCCT	0.333									Hermansky-Pudlak syndrome																																								0													84.0	83.0	84.0					5																	77477332		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.942+1C>T	5.37:g.77477332G>A			E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.A314V	ENST00000255194.6	37	c.941	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.434769	0.96150	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.30714	1.52;1.52	5.93	5.93	0.95920	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.71467	-0.4584	10	0.87932	D	0	-11.9365	20.3368	0.98748	0.0:0.0:1.0:0.0	.	314	O00203	AP3B1_HUMAN	V	314;265;314;218	ENSP00000255194:A314V;ENSP00000430597:A265V	ENSP00000255194:A314V	A	-	2	0	AP3B1	77513088	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.412000	0.97347	2.805000	0.96524	0.655000	0.94253	GCG	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000132842		0.333	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2		0.00	27	0	G		Missense_Mutation	77477332	-1			no_errors	ENST00000255194	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	A
APH1A	51107	genome.wustl.edu	37	1	150238869	150238869	+	Intron	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:150238869G>T	ENST00000369109.3	-	6	922				APH1A_ENST00000414276.2_Intron|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_3'UTR	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGGGCTCAGTCATGGGCAG	0.582																																																	0																																										SO:0001627	intron_variant	0			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.733+63C>A	1.37:g.150238869G>T			B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	RNA	SNP	-	NULL	ENST00000369109.3	37	NULL	CCDS41390.1	1																																																																																			APH1A	-	-	ENSG00000117362		0.582	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	-	0.00	66	0	G	NM_016022		150238869	-1	tier1	-	no_errors	ENST00000461320	ensembl	human	known	74_37	rna	6.67	56	4	SNP	1.000	T
ARFGEF2	10564	genome.wustl.edu	37	20	47635475	47635475	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:47635475A>G	ENST00000371917.4	+	34	4564	c.4564A>G	c.(4564-4566)Agg>Ggg	p.R1522G		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1522					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCCCTCTGAGAGGGGACAGAG	0.423																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													78.0	76.0	77.0					20																	47635475		2203	4300	6503	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4564A>G	20.37:g.47635475A>G	ENSP00000360985:p.Arg1522Gly		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.R1522G	ENST00000371917.4	37	c.4564	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770496	0.31320	.	.	ENSG00000124198	ENST00000371917	T	0.47528	0.84	4.92	3.81	0.43845	Armadillo-type fold (1);	0.459979	0.25708	N	0.028829	T	0.35393	0.0930	L	0.38838	1.175	0.47949	D	0.999554	B	0.06786	0.001	B	0.04013	0.001	T	0.08889	-1.0700	10	0.23891	T	0.37	.	10.7795	0.46369	0.8407:0.1593:0.0:0.0	.	1522	Q9Y6D5	BIG2_HUMAN	G	1522	ENSP00000360985:R1522G	ENSP00000360985:R1522G	R	+	1	2	ARFGEF2	47068882	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.578000	0.60929	0.804000	0.34136	0.379000	0.24179	AGG	ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.423	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1		0.00	24	0	A	NM_006420		47635475	+1			no_errors	ENST00000371917	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	G
ATAD5	79915	genome.wustl.edu	37	17	29196273	29196273	+	Silent	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:29196273G>T	ENST00000321990.4	+	13	3699	c.3321G>T	c.(3319-3321)tcG>tcT	p.S1107S		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1107					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAGATTTCTCGGGTGGCATAG	0.393																																																	0													97.0	94.0	95.0					17																	29196273		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3321G>T	17.37:g.29196273G>T			Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S1107	ENST00000321990.4	37	c.3321	CCDS11260.1	17																																																																																			ATAD5	-	superfamily_P-loop_NTPase	ENSG00000176208		0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2		0.00	28	0	G	NM_024857		29196273	+1			no_errors	ENST00000321990	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.000	T
ATP10B	23120	genome.wustl.edu	37	5	160059358	160059358	+	Silent	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:160059358G>T	ENST00000327245.5	-	13	2244	c.1398C>A	c.(1396-1398)acC>acA	p.T466T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	466					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTCCTTTGGGGTCTCCAGTC	0.527																																																	0													102.0	98.0	99.0					5																	160059358		1933	4127	6060	SO:0001819	synonymous_variant	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1398C>A	5.37:g.160059358G>T			Q9H725	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.T466	ENST00000327245.5	37	c.1398	CCDS43394.1	5																																																																																			ATP10B	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000118322		0.527	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1		0.00	50	0	G	NM_025153		160059358	-1			no_errors	ENST00000327245	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.996	T
CEP131	22994	genome.wustl.edu	37	17	79163621	79163621	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:79163621T>C	ENST00000269392.4	-	26	3447	c.3200A>G	c.(3199-3201)cAc>cGc	p.H1067R	AZI1_ENST00000374782.3_Missense_Mutation_p.H1028R|AZI1_ENST00000575907.1_Missense_Mutation_p.H1031R|AZI1_ENST00000450824.2_Missense_Mutation_p.H1064R	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		1067					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTCCTCCAGGTGGTCGGCCCG	0.657																																																	0													100.0	101.0	100.0					17																	79163621		2203	4300	6503	SO:0001583	missense	0																														ENST00000269392.4:c.3200A>G	17.37:g.79163621T>C	ENSP00000269392:p.His1067Arg		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	superfamily_t-SNARE	p.H1067R	ENST00000269392.4	37	c.3200		17	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629110	0.67015	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.16324	2.35;2.39;2.36	4.42	4.42	0.53409	.	0.062733	0.64402	D	0.000007	T	0.39384	0.1076	M	0.65498	2.005	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.997;0.934;0.934	T	0.28396	-1.0045	10	0.72032	D	0.01	-21.8874	13.4718	0.61285	0.0:0.0:0.0:1.0	.	1064;1067;1028;1064	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	R	1064;1028;1067	ENSP00000393583:H1064R;ENSP00000363914:H1028R;ENSP00000269392:H1067R	ENSP00000269392:H1067R	H	-	2	0	AZI1	76778216	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	2.911000	0.48774	1.846000	0.53633	0.496000	0.49642	CAC	AZI1	-	NULL	ENSG00000141577		0.657	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	-	0.00	61	0	T			79163621	-1	tier1	-	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	C
BAG6	7917	genome.wustl.edu	37	6	31617094	31617094	+	Missense_Mutation	SNP	G	G	T	rs376898536		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:31617094G>T	ENST00000375964.6	-	4	618	c.305C>A	c.(304-306)aCg>aAg	p.T102K	BAG6_ENST00000404765.2_Missense_Mutation_p.T102K|BAG6_ENST00000439687.2_Missense_Mutation_p.T102K|BAG6_ENST00000375976.4_Missense_Mutation_p.T102K|BAG6_ENST00000211379.5_Missense_Mutation_p.T102K|BAG6_ENST00000362049.6_Missense_Mutation_p.T102K	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	102					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGCAGACCCCGTCCCAGAAGA	0.587																																																	0													80.0	86.0	84.0					6																	31617094		1511	2709	4220	SO:0001583	missense	0			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.305C>A	6.37:g.31617094G>T	ENSP00000365131:p.Thr102Lys		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.T102K	ENST00000375964.6	37	c.305	CCDS47403.1	6	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586878	0.66105	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000435080;ENST00000434444;ENST00000452994;ENST00000456622;ENST00000428326;ENST00000451898;ENST00000433828;ENST00000424480;ENST00000424176;ENST00000446826;ENST00000441054;ENST00000456286;ENST00000454165	T;T;T;T;T;T;T;T	0.48836	1.43;1.39;1.43;1.44;0.8;1.43;0.86;1.39	5.26	4.37	0.52481	.	0.472153	0.24470	N	0.038244	T	0.10895	0.0266	N	0.14661	0.345	0.35961	D	0.834602	B;B;B;B;B	0.34226	0.199;0.3;0.443;0.199;0.3	B;B;B;B;B	0.35039	0.049;0.106;0.194;0.049;0.106	T	0.06789	-1.0807	10	0.06099	T	0.92	.	9.2233	0.37390	0.1801:0.0:0.8199:0.0	.	102;102;102;102;102	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2	.;.;.;BAG6_HUMAN;.	K	102	ENSP00000365143:T102K;ENSP00000365131:T102K;ENSP00000211379:T102K;ENSP00000384494:T102K;ENSP00000402856:T102K;ENSP00000354875:T102K;ENSP00000397978:T102K;ENSP00000396503:T102K	ENSP00000211379:T102K	T	-	2	0	BAG6	31725073	0.938000	0.31826	1.000000	0.80357	0.973000	0.67179	1.173000	0.31920	1.396000	0.46663	0.561000	0.74099	ACG	BAG6	-	NULL	ENSG00000204463		0.587	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	HGNC	protein_coding		-	0.00	49	0	G	NM_080703		31617094	-1	tier1	-	no_errors	ENST00000404765	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T
BRCA2	675	genome.wustl.edu	37	13	32900736	32900736	+	Missense_Mutation	SNP	C	C	G	rs397507832		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:32900736C>G	ENST00000380152.3	+	7	850	c.617C>G	c.(616-618)tCt>tGt	p.S206C	BRCA2_ENST00000544455.1_Missense_Mutation_p.S206C			P51587	BRCA2_HUMAN	breast cancer 2, early onset	206					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACCCTTAGTTCTACTGTGCTC	0.383			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													98.0	96.0	97.0					13																	32900736		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.617C>G	13.37:g.32900736C>G	ENSP00000369497:p.Ser206Cys		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.S206C	ENST00000380152.3	37	c.617	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575398	0.65878	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00848	5.62;5.62	5.65	5.65	0.86999	.	0.217177	0.33075	N	0.005301	T	0.03011	0.0089	L	0.49778	1.585	0.25741	N	0.985166	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.747	T	0.40646	-0.9552	10	0.54805	T	0.06	.	10.4837	0.44708	0.1352:0.794:0.0:0.0708	.	206;206	P51587;A1YBP1	BRCA2_HUMAN;.	C	206;206;204	ENSP00000369497:S206C;ENSP00000439902:S206C	ENSP00000369497:S206C	S	+	2	0	BRCA2	31798736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.051000	0.49885	2.655000	0.90218	0.563000	0.77884	TCT	BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.383	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	-	0.00	33	0	C	NM_000059		32900736	+1	tier1	-	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.997	G
BRINP1	1620	genome.wustl.edu	37	9	121929458	121929458	+	Silent	SNP	C	C	T	rs146802258		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:121929458C>T	ENST00000265922.3	-	8	2651	c.2190G>A	c.(2188-2190)ctG>ctA	p.L730L	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	730					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CGCTGTTGGTCAGTTTCAGGC	0.557																																																	0													178.0	173.0	175.0					9																	121929458		2203	4300	6503	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2190G>A	9.37:g.121929458C>T			Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.L730	ENST00000265922.3	37	c.2190	CCDS6822.1	9																																																																																			BRINP1	-	NULL	ENSG00000078725		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0.00	51	0	C	NM_014618		121929458	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.978	T
BSDC1	55108	genome.wustl.edu	37	1	32846846	32846846	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:32846846C>T	ENST00000455895.2	-	5	414	c.381G>A	c.(379-381)tcG>tcA	p.S127S	BSDC1_ENST00000526031.1_Silent_p.S32S|BSDC1_ENST00000419121.2_Silent_p.S71S|BSDC1_ENST00000449308.1_Silent_p.S127S|BSDC1_ENST00000446293.2_Silent_p.S144S|BSDC1_ENST00000341071.7_Silent_p.S144S|BSDC1_ENST00000413080.1_Silent_p.S127S	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	127										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTGCTGGGTCCGACTGCAGGC	0.517																																																	0													59.0	57.0	58.0					1																	32846846		2203	4300	6503	SO:0001819	synonymous_variant	0			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.381G>A	1.37:g.32846846C>T			B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Silent	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.S144	ENST00000455895.2	37	c.432	CCDS363.2	1																																																																																			BSDC1	-	NULL	ENSG00000160058		0.517	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	-	0.00	29	0	C	NM_018045		32846846	-1	tier1	-	no_errors	ENST00000341071	ensembl	human	known	74_37	silent	40.00	18	12	SNP	0.894	T
BTN3A1	11119	genome.wustl.edu	37	6	26408042	26408042	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:26408042C>T	ENST00000289361.6	+	4	945	c.577C>T	c.(577-579)Cct>Tct	p.P193S	BTN3A1_ENST00000425234.2_Missense_Mutation_p.P193S|BTN3A1_ENST00000476549.2_Missense_Mutation_p.P193S|BTN3A1_ENST00000414912.2_Intron	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	193	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGTGGAAGCACCTGTGGTTGC	0.557																																																	0													192.0	169.0	177.0					6																	26408042		2203	4300	6503	SO:0001583	missense	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.577C>T	6.37:g.26408042C>T	ENSP00000289361:p.Pro193Ser		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.P193S	ENST00000289361.6	37	c.577	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	0.052	-1.248546	0.01469	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234	T;T;T	0.73152	-0.72;-0.72;-0.72	2.0	-2.75	0.05914	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44477	0.1295	N	0.21240	0.645	0.09310	N	1	D;D;D	0.89917	0.992;0.966;1.0	P;P;D	0.91635	0.848;0.772;0.999	T	0.47923	-0.9079	9	0.05721	T	0.95	.	6.4249	0.21764	0.0:0.2826:0.0:0.7174	.	193;193;193	O00481-3;O00481-2;O00481	.;.;BT3A1_HUMAN	S	193	ENSP00000420010:P193S;ENSP00000289361:P193S;ENSP00000396684:P193S	ENSP00000289361:P193S	P	+	1	0	BTN3A1	26516021	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.570000	0.02140	-0.798000	0.04444	0.511000	0.50034	CCT	BTN3A1	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000026950		0.557	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	-	0.00	72	0	C			26408042	+1	tier1	-	no_errors	ENST00000289361	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.000	T
C12orf40	283461	genome.wustl.edu	37	12	40077955	40077955	+	Intron	DEL	T	T	-			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:40077955delT	ENST00000324616.5	+	9	1440				C12orf40_ENST00000398716.1_Frame_Shift_Del_p.I363fs|C12orf40_ENST00000405531.3_Intron	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40											breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTTAAGGTGATTTTTACACTC	0.328																																																	0																																										SO:0001627	intron_variant	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1286+669T>-	12.37:g.40077955delT			B7WNU1|Q8IXY6|Q8N818|V9HW02	Frame_Shift_Del	DEL	NULL	p.F364fs	ENST00000324616.5	37	c.1088	CCDS41770.1	12																																																																																			C12orf40	-	NULL	ENSG00000180116		0.328	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2		0.00	44	0	T	NM_173599		40077955	+1	tier1		no_errors	ENST00000398716	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.166	-
C12orf56	115749	genome.wustl.edu	37	12	64678469	64678469	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:64678469G>A	ENST00000543942.2	-	8	1911	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	C12orf56_ENST00000333722.5_Missense_Mutation_p.R269C|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	429								p.R269C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GTGTTCAGGCGTGATGACTCG	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)											138.0	130.0	133.0					12																	64678469		1922	4142	6064	SO:0001583	missense	0				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1285C>T	12.37:g.64678469G>A	ENSP00000446101:p.Arg429Cys			Missense_Mutation	SNP	NULL	p.R269C	ENST00000543942.2	37	c.805		12	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098649	0.37048	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000002	T	0.76659	0.4018	M	0.76002	2.32	0.44129	D	0.996911	D;D	0.89917	1.0;1.0	P;D	0.83275	0.88;0.996	T	0.77619	-0.2520	8	.	.	.	-2.9486	12.4453	0.55647	0.0:0.0:1.0:0.0	.	269;432	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	C	269;430;432	.	.	R	-	1	0	C12orf56	62964736	0.668000	0.27493	0.222000	0.23844	0.073000	0.16967	2.582000	0.46085	2.402000	0.81655	0.655000	0.94253	CGC	C12orf56	-	NULL	ENSG00000185306		0.383	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	HGNC	protein_coding	OTTHUMT00000401058.2	-	0.00	25	0	G	NM_001099676		64678469	-1	tier1	-	no_errors	ENST00000333722	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.587	A
C20orf141	128653	genome.wustl.edu	37	20	2796202	2796202	+	Silent	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:2796202G>T	ENST00000380589.4	+	2	453	c.279G>T	c.(277-279)ctG>ctT	p.L93L	TMEM239_ENST00000554164.1_Intron|C20orf141_ENST00000603872.1_Silent_p.L93L|TMEM239_ENST00000380585.1_5'Flank|TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000361033.1_5'Flank	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	93	Leu-rich.					integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GTCACACTCTGCCACAGCGCA	0.632																																																	0													37.0	35.0	36.0					20																	2796202		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.279G>T	20.37:g.2796202G>T				Silent	SNP	NULL	p.L93	ENST00000380589.4	37	c.279	CCDS13034.1	20																																																																																			C20orf141	-	NULL	ENSG00000258713		0.632	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf141	HGNC	protein_coding	OTTHUMT00000077644.2		0.00	19	0	G	NM_080739		2796202	+1			no_errors	ENST00000380589	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.004	T
C3	718	genome.wustl.edu	37	19	6702485	6702485	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:6702485delT	ENST00000245907.6	-	18	2443	c.2351delA	c.(2350-2352)aatfs	p.N784fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	784					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GCCTTACCCATTTTTCGGTGG	0.522																																																	0													98.0	93.0	95.0					19																	6702485		2203	4300	6503	SO:0001589	frameshift_variant	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2351delA	19.37:g.6702485delT	ENSP00000245907:p.Asn784fs		A7E236	Frame_Shift_Del	DEL	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.N784fs	ENST00000245907.6	37	c.2351	CCDS32883.1	19																																																																																			C3	-	pfam_Macroglobln_a2	ENSG00000125730		0.522	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2		0.00	29	0	T	NM_000064		6702485	-1	tier1		no_errors	ENST00000245907	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.063	-
C5orf45	51149	genome.wustl.edu	37	5	179267905	179267905	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:179267905C>T	ENST00000292586.6	-	6	594	c.504G>A	c.(502-504)tcG>tcA	p.S168S	C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000520698.1_Silent_p.S113S|C5orf45_ENST00000518219.1_Silent_p.S168S|C5orf45_ENST00000523084.1_Silent_p.S34S|C5orf45_ENST00000518235.1_Silent_p.S168S|C5orf45_ENST00000403396.2_Silent_p.S210S|C5orf45_ENST00000376931.2_Silent_p.S113S|C5orf45_ENST00000523267.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	168										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CAGAGCCACCCGAGTCCTGCA	0.597																																																	0													53.0	44.0	47.0					5																	179267905		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.504G>A	5.37:g.179267905C>T			B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	NULL	p.S168	ENST00000292586.6	37	c.504	CCDS34319.1	5																																																																																			C5orf45	-	NULL	ENSG00000161010		0.597	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf45	HGNC	protein_coding	OTTHUMT00000373760.2		0.00	27	0	C	NM_016175		179267905	-1			no_errors	ENST00000292586	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.000	T
C6orf132	647024	genome.wustl.edu	37	6	42073065	42073065	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:42073065G>A	ENST00000341865.4	-	4	2584	c.2585C>T	c.(2584-2586)tCc>tTc	p.S862F		NM_001164446.1	NP_001157918.1	Q5T0Z8	CF132_HUMAN	chromosome 6 open reading frame 132	862										breast(1)	1						TGGCAGAGAGGACCGACCCAG	0.667																																																	0													81.0	71.0	74.0					6																	42073065		692	1591	2283	SO:0001583	missense	0				CCDS47428.1	6p21.1	2012-02-06			ENSG00000188112	ENSG00000188112			21288	protein-coding gene	gene with protein product							Standard	NM_001164446		Approved	bA7K24.2	uc003orw.2	Q5T0Z8	OTTHUMG00000014695	ENST00000341865.4:c.2585C>T	6.37:g.42073065G>A	ENSP00000341368:p.Ser862Phe		A6NI05	Missense_Mutation	SNP	NULL	p.S862F	ENST00000341865.4	37	c.2585	CCDS47428.1	6	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626212	0.46840	.	.	ENSG00000188112	ENST00000341865	T	0.49432	0.78	3.83	2.95	0.34219	.	.	.	.	.	T	0.24353	0.0590	N	0.24115	0.695	0.58432	D	0.999999	.	.	.	.	.	.	T	0.10314	-1.0635	7	0.66056	D	0.02	.	7.2051	0.25903	0.124:0.0:0.876:0.0	.	.	.	.	F	862	ENSP00000341368:S862F	ENSP00000341368:S862F	S	-	2	0	C6orf132	42181043	0.951000	0.32395	0.798000	0.32154	0.529000	0.34654	2.430000	0.44766	0.947000	0.37659	0.655000	0.94253	TCC	C6orf132	-	NULL	ENSG00000188112		0.667	C6orf132-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C6orf132	HGNC	protein_coding	OTTHUMT00000040548.2		0.00	24	0	G	NM_001164446		42073065	-1			no_errors	ENST00000341865	ensembl	human	putative	74_37	missense	11.11	56	7	SNP	0.830	A
C8B	732	genome.wustl.edu	37	1	57431590	57431590	+	Missense_Mutation	SNP	G	G	A	rs375318933		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:57431590G>A	ENST00000371237.4	-	1	98	c.32C>T	c.(31-33)gCg>gTg	p.A11V	RP5-1103B4.3_ENST00000417420.1_RNA|C8B_ENST00000535057.1_5'UTR|AL161740.1_ENST00000408664.1_RNA|C8B_ENST00000494324.1_5'UTR|C8B_ENST00000543257.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	11					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTCCACCGGCGCCCTCCAAGC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17699	0.0		0.0	False		,,,				2504	0.0																0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	75.0	77.0	76.0		32	-3.0	0.0	1		76	0,8600		0,0,4300	no	missense	C8B	NM_000066.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	11/592	57431590	1,13005	2203	4300	6503	SO:0001583	missense	0			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.32C>T	1.37:g.57431590G>A	ENSP00000360281:p.Ala11Val		A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.A11V	ENST00000371237.4	37	c.32	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	G	1.100	-0.661405	0.03454	2.27E-4	0.0	ENSG00000021852	ENST00000371237	T	0.23950	1.88	5.23	-3.05	0.05396	.	1.767260	0.02326	N	0.073428	T	0.08223	0.0205	N	0.02011	-0.69	0.09310	N	0.999995	B	0.09022	0.002	B	0.04013	0.001	T	0.32666	-0.9898	10	0.02654	T	1	2.0418	6.4832	0.22075	0.5618:0.14:0.2982:0.0	.	11	P07358	CO8B_HUMAN	V	11	ENSP00000360281:A11V	ENSP00000360281:A11V	A	-	2	0	C8B	57204178	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.581000	0.00424	-0.854000	0.04131	-0.459000	0.05422	GCG	C8B	-	NULL	ENSG00000021852		0.512	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	-	0.00	32	0	G			57431590	-1	tier1	-	no_errors	ENST00000371237	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.000	A
CAAP1	79886	genome.wustl.edu	37	9	26892443	26892443	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:26892443C>A	ENST00000333916.5	-	1	359	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	CAAP1_ENST00000495958.1_5'UTR|CAAP1_ENST00000520187.1_Missense_Mutation_p.D91Y|CAAP1_ENST00000535437.1_5'Flank	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	91					apoptotic process (GO:0006915)												CTGGAAGAGTCGGTACTCCTC	0.667																																																	0													6.0	7.0	7.0					9																	26892443		2014	4024	6038	SO:0001583	missense	0			BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"""conserved anti-apoptotic protein"""		"""chromosome 9 open reading frame 82"""	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.271G>T	9.37:g.26892443C>A	ENSP00000369431:p.Asp91Tyr		B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Missense_Mutation	SNP	NULL	p.D91Y	ENST00000333916.5	37	c.271	CCDS6516.1	9	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722036	0.68959	.	.	ENSG00000120159	ENST00000333916;ENST00000520187	T	0.53857	0.6	5.21	5.21	0.72293	.	0.196245	0.52532	D	0.000061	T	0.54967	0.1891	L	0.27053	0.805	0.80722	D	1	D	0.60575	0.988	P	0.57152	0.814	T	0.58912	-0.7552	10	0.72032	D	0.01	-4.4162	14.6226	0.68597	0.0:1.0:0.0:0.0	.	91	Q9H8G2	CI082_HUMAN	Y	91	ENSP00000369431:D91Y	ENSP00000369431:D91Y	D	-	1	0	C9orf82	26882443	0.993000	0.37304	0.985000	0.45067	0.941000	0.58515	3.229000	0.51278	2.580000	0.87095	0.549000	0.68633	GAC	CAAP1	-	NULL	ENSG00000120159		0.667	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAAP1	HGNC	protein_coding	OTTHUMT00000051954.1		0.00	19	0	C	NM_024828		26892443	-1			no_errors	ENST00000333916	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.993	A
CACNA1B	774	genome.wustl.edu	37	9	140772632	140772632	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:140772632G>A	ENST00000371372.1	+	1	392	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	CACNA1B_ENST00000371355.4_Missense_Mutation_p.V83I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V83I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V83I|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V83I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	83					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAGGACAACGTCGTCCGCAA	0.716																																																	0													31.0	34.0	33.0					9																	140772632		2045	4193	6238	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.247G>A	9.37:g.140772632G>A	ENSP00000360423:p.Val83Ile		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.V83I	ENST00000371372.1	37	c.247	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	6.749	0.507023	0.12883	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	3.63	2.71	0.32032	.	0.319524	0.25366	U	0.031192	T	0.09905	0.0243	N	0.02420	-0.555	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.16748	-1.0392	10	0.06494	T	0.89	.	9.4271	0.38586	0.1073:0.0:0.8927:0.0	.	83	B1AQK6	.	I	83	ENSP00000360423:V83I;ENSP00000277551:V83I;ENSP00000360414:V83I;ENSP00000360408:V83I;ENSP00000360406:V83I	ENSP00000277551:V83I	V	+	1	0	CACNA1B	139892453	0.729000	0.28090	1.000000	0.80357	0.980000	0.70556	0.136000	0.15974	1.585000	0.49928	0.298000	0.19748	GTC	CACNA1B	-	NULL	ENSG00000148408		0.716	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1		0.00	30	0	G	NM_000718		140772632	+1			no_errors	ENST00000371355	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	A
CACNA1I	8911	genome.wustl.edu	37	22	40055037	40055037	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr22:40055037G>A	ENST00000402142.3	+	12	2246	c.2246G>A	c.(2245-2247)cGg>cAg	p.R749Q	CACNA1I_ENST00000401624.1_Missense_Mutation_p.R749Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R714Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R714Q|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R755Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R714Q	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	749					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGCCCTGCGGCGCCAGCTC	0.622																																																	0													55.0	62.0	59.0					22																	40055037		2181	4276	6457	SO:0001583	missense	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2246G>A	22.37:g.40055037G>A	ENSP00000385019:p.Arg749Gln		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R755Q	ENST00000402142.3	37	c.2264	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434999	0.83885	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14;-5.14	4.81	4.81	0.61882	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98210	0.9408	L	0.39020	1.185	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	D;D;D;D	0.87578	0.998;0.998;0.93;0.997	D	0.97265	0.9907	10	0.09590	T	0.72	.	18.245	0.89982	0.0:0.0:1.0:0.0	.	714;749;714;749	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Q	749;714;749;714;755;714	ENSP00000385019:R749Q;ENSP00000384093:R714Q;ENSP00000383887:R749Q;ENSP00000385680:R714Q;ENSP00000337829:R755Q;ENSP00000383028:R714Q	ENSP00000337829:R755Q	R	+	2	0	CACNA1I	38384983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.656000	0.74396	2.370000	0.80446	0.655000	0.94253	CGG	CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	-	0.00	83	0	G	NM_001003406		40055037	+1	tier1	-	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	A
CACNA2D1	781	genome.wustl.edu	37	7	81579725	81579725	+	Missense_Mutation	SNP	T	T	G	rs376529606		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:81579725T>G	ENST00000356253.5	-	39	3550	c.3295A>C	c.(3295-3297)Aca>Cca	p.T1099P	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.T1087P|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.T299P			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1099					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AGGCGGTGTGTGCTGCCAGAT	0.453																																																	0													97.0	97.0	97.0					7																	81579725		2203	4300	6503	SO:0001583	missense	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3295A>C	7.37:g.81579725T>G	ENSP00000348589:p.Thr1099Pro		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.T1099P	ENST00000356253.5	37	c.3295		7	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736370	0.49045	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.30714	3.27;3.27;1.52	4.96	4.96	0.65561	.	0.447946	0.22594	N	0.058045	T	0.14527	0.0351	N	0.01874	-0.695	0.26285	N	0.978215	B;B	0.14012	0.009;0.007	B;B	0.09377	0.004;0.002	T	0.18903	-1.0322	10	0.54805	T	0.06	-12.5479	14.9184	0.70815	0.0:0.0:0.0:1.0	.	299;1087	B7Z658;P54289-2	.;.	P	1087;1106;1099;299	ENSP00000349320:T1087P;ENSP00000348589:T1099P;ENSP00000443124:T299P	ENSP00000284088:T1106P	T	-	1	0	CACNA2D1	81417661	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	4.290000	0.59019	1.970000	0.57323	0.528000	0.53228	ACA	CACNA2D1	-	NULL	ENSG00000153956		0.453	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0.00	45	0	T			81579725	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	missense	12.82	68	10	SNP	1.000	G
CACYBP	27101	genome.wustl.edu	37	1	174979201	174979201	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:174979201G>T	ENST00000367679.2	+	6	1121	c.673G>T	c.(673-675)Gac>Tac	p.D225Y	CACYBP_ENST00000367681.2_Missense_Mutation_p.D182Y|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000405362.1_Missense_Mutation_p.D182Y	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	225	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.D225N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGCCAAAGGAGACACGGAATT	0.378																																																	1	Substitution - Missense(1)	prostate(1)											100.0	96.0	98.0					1																	174979201		2203	4300	6503	SO:0001583	missense	0			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.673G>T	1.37:g.174979201G>T	ENSP00000356652:p.Asp225Tyr		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	pfam_Siah-Interact_N,pfam_CS_dom,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_SGS	p.D225Y	ENST00000367679.2	37	c.673	CCDS1315.1	1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688178	0.88639	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	.	.	.	6.02	6.02	0.97574	SGS (1);	0.244102	0.46758	D	0.000270	T	0.78071	0.4226	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.78373	-0.2229	9	0.72032	D	0.01	-24.3566	20.5407	0.99260	0.0:0.0:1.0:0.0	.	225	Q9HB71	CYBP_HUMAN	Y	182;198;225;182	.	ENSP00000356652:D225Y	D	+	1	0	CACYBP	173245824	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.168000	0.71908	2.865000	0.98341	0.655000	0.94253	GAC	CACYBP	-	pfscan_SGS	ENSG00000116161		0.378	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACYBP	HGNC	protein_coding	OTTHUMT00000084583.3		0.00	41	0	G	NM_014412		174979201	+1			no_errors	ENST00000367679	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
CAMK1D	57118	genome.wustl.edu	37	10	12867592	12867592	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:12867592C>T	ENST00000378847.3	+	10	1279	c.942C>T	c.(940-942)gcC>gcT	p.A314A	CAMK1D_ENST00000378845.1_Silent_p.A314A	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	314	Autoinhibitory domain. {ECO:0000250}.|Calmodulin-binding. {ECO:0000250}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ATGCCACGGCCGTCGTCAGAC	0.433																																																	0													96.0	93.0	94.0					10																	12867592		2203	4300	6503	SO:0001819	synonymous_variant	0			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.942C>T	10.37:g.12867592C>T			B0YIY0|Q9HD31	Silent	SNP	pfam_Prot_kinase_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_dom	p.A314	ENST00000378847.3	37	c.942	CCDS7091.1	10																																																																																			CAMK1D	-	superfamily_Kinase-like_dom	ENSG00000183049		0.433	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1D	HGNC	protein_coding	OTTHUMT00000046820.1	-	0.00	22	0	C	NM_020397		12867592	+1	tier1	-	no_errors	ENST00000378847	ensembl	human	known	74_37	silent	20.00	28	7	SNP	0.427	T
CAPN14	440854	genome.wustl.edu	37	2	31423364	31423364	+	Missense_Mutation	SNP	C	C	T	rs372312550		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:31423364C>T	ENST00000403897.3	-	6	820	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	CAPN14_ENST00000444918.2_Missense_Mutation_p.E227K	NM_001145122.1	NP_001138594.1	A8MX76	CAN14_HUMAN	calpain 14	227	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)|skin(1)|stomach(2)	7						TAGGTGGCTTCGATGAGGATG	0.572																																																	0								T	LYS/GLU	2,1382		0,2,690	84.0	78.0	80.0		679	-1.5	0.0	2		80	0,3182		0,0,1591	no	missense	CAPN14	NM_001145122.1	56	0,2,2281	TT,TC,CC		0.0,0.1445,0.0438	benign	227/685	31423364	2,4564	692	1591	2283	SO:0001583	missense	0			AC015980	CCDS46254.1	2p23.1-p21	2013-01-10			ENSG00000214711	ENSG00000214711		"""EF-hand domain containing"""	16664	protein-coding gene	gene with protein product		610229				11675017	Standard	NM_001145122		Approved		uc010yms.2	A8MX76	OTTHUMG00000152039	ENST00000403897.3:c.679G>A	2.37:g.31423364C>T	ENSP00000385247:p.Glu227Lys		B3KRU9	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat	p.E227K	ENST00000403897.3	37	c.679	CCDS46254.1	2	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.119134	0.00346	0.001445	0.0	ENSG00000214711	ENST00000444918;ENST00000403897	D;D	0.85955	-2.05;-2.05	3.93	-1.48	0.08745	Peptidase C2, calpain, catalytic domain (3);	0.242826	0.32081	N	0.006605	T	0.50154	0.1599	N	0.01086	-1.025	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54748	-0.8247	10	0.02654	T	1	.	5.3271	0.15913	0.0813:0.086:0.3887:0.444	.	227;51	A8MX76;A8MX76-2	CAN14_HUMAN;.	K	227	ENSP00000398670:E227K;ENSP00000385247:E227K	ENSP00000385247:E227K	E	-	1	0	CAPN14	31276868	0.005000	0.15991	0.002000	0.10522	0.058000	0.15608	0.515000	0.22801	-0.458000	0.07023	-1.726000	0.00704	GAA	CAPN14	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000214711		0.572	CAPN14-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CAPN14	HGNC	protein_coding	OTTHUMT00000325010.1	-	0.00	44	0	C	NM_001145122		31423364	-1	tier1	-	no_errors	ENST00000444918	ensembl	human	known	74_37	missense	31.82	30	14	SNP	0.002	T
CBX8	57332	genome.wustl.edu	37	17	77769002	77769002	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:77769002G>A	ENST00000269385.4	-	5	719	c.602C>T	c.(601-603)cCc>cTc	p.P201L	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	201					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCGGGGCTTGGGGCCTCGCTT	0.667																																																	0													38.0	32.0	34.0					17																	77769002		2203	4300	6503	SO:0001583	missense	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.602C>T	17.37:g.77769002G>A	ENSP00000269385:p.Pro201Leu		Q96H39|Q9NR07	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.P201L	ENST00000269385.4	37	c.602	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317128	0.81469	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T;T	0.28895	1.59;1.59	4.91	4.91	0.64330	.	1.259070	0.05509	N	0.559886	T	0.25494	0.0620	L	0.34521	1.04	0.53688	D	0.999972	B	0.25441	0.126	B	0.16289	0.015	T	0.03910	-1.0993	10	0.13853	T	0.58	-19.3741	11.9334	0.52860	0.0804:0.0:0.9196:0.0	.	201	Q9HC52	CBX8_HUMAN	L	201;176;191	ENSP00000269385:P201L;ENSP00000405058:P191L	ENSP00000269385:P201L	P	-	2	0	CBX8	75383597	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.524000	0.53495	2.438000	0.82558	0.462000	0.41574	CCC	CBX8	-	NULL	ENSG00000141570		0.667	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1	-	0.00	50	0	G	NM_020649		77769002	-1	tier1	-	no_errors	ENST00000269385	ensembl	human	known	74_37	missense	29.17	34	14	SNP	1.000	A
CCDC146	57639	genome.wustl.edu	37	7	76909903	76909903	+	Missense_Mutation	SNP	A	A	G	rs376608993		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:76909903A>G	ENST00000285871.4	+	14	1979	c.1852A>G	c.(1852-1854)Atg>Gtg	p.M618V	CCDC146_ENST00000431197.1_Missense_Mutation_p.M332V|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	618										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CACGATCACAATGATCGAAGA	0.418																																																	0													98.0	83.0	88.0					7																	76909903		2203	4300	6503	SO:0001583	missense	0			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1852A>G	7.37:g.76909903A>G	ENSP00000285871:p.Met618Val		A8K8X6|Q9P223	Missense_Mutation	SNP	NULL	p.M618V	ENST00000285871.4	37	c.1852	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	A	2.111	-0.403708	0.04832	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.39997	1.05;1.05	6.08	-12.2	0.00006	.	1.140610	0.06227	N	0.687866	T	0.14056	0.0340	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.17228	-1.0376	10	0.28530	T	0.3	0.4614	7.3892	0.26901	0.1185:0.2408:0.4969:0.1438	.	332;618	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	V	618;332	ENSP00000285871:M618V;ENSP00000413885:M332V	ENSP00000285871:M618V	M	+	1	0	AC007000.1	76747839	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-2.562000	0.00920	-2.440000	0.00550	-1.208000	0.01637	ATG	CCDC146	-	NULL	ENSG00000135205		0.418	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	-	0.00	33	0	A	NM_020879		76909903	+1	tier1	-	no_errors	ENST00000285871	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.000	G
CCER1	196477	genome.wustl.edu	37	12	91348387	91348387	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:91348387C>G	ENST00000358859.2	-	1	566	c.133G>C	c.(133-135)Gct>Cct	p.A45P	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	45																	TACGCTGGAGCACCCGGGCGC	0.662																																																	0													29.0	28.0	28.0					12																	91348387		2203	4300	6503	SO:0001583	missense	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.133G>C	12.37:g.91348387C>G	ENSP00000351727:p.Ala45Pro		Q8TC47	Missense_Mutation	SNP	NULL	p.A45P	ENST00000358859.2	37	c.133	CCDS9036.1	12	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558921	0.27827	.	.	ENSG00000197651	ENST00000358859	T	0.37752	1.18	5.08	2.63	0.31362	.	0.485509	0.15429	N	0.262805	T	0.36936	0.0985	L	0.27053	0.805	0.09310	N	1	D	0.55385	0.971	P	0.58454	0.839	T	0.09143	-1.0688	10	0.62326	D	0.03	-3.5093	6.1724	0.20424	0.0:0.7385:0.0:0.2615	.	45	Q8TC90	CL012_HUMAN	P	45	ENSP00000351727:A45P	ENSP00000351727:A45P	A	-	1	0	C12orf12	89872518	0.001000	0.12720	0.012000	0.15200	0.004000	0.04260	-0.042000	0.12063	0.689000	0.31550	0.462000	0.41574	GCT	CCER1	-	NULL	ENSG00000197651		0.662	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2	-	0.00	33	0	C	NM_152638		91348387	-1	tier1	-	no_errors	ENST00000358859	ensembl	human	known	74_37	missense	37.93	18	11	SNP	0.011	G
CCP110	9738	genome.wustl.edu	37	16	19537184	19537185	+	Intron	INS	-	-	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:19537184_19537185insT	ENST00000381396.5	+	1	232				CCP110_ENST00000396208.2_Intron|CCP110_ENST00000396212.2_Splice_Site	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa						cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						tcagatagtggtaagtgctatg	0.416																																																	0																																										SO:0001627	intron_variant	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.-16+1774->T	16.37:g.19537185_19537185dupT			B7WP23|O43335|Q68DV9|Q8NE13	Splice_Site	INS	-	e0+1	ENST00000381396.5	37	c.1+1_2	CCDS55992.1	16																																																																																			CCP110	-	-	ENSG00000103540		0.416	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2		0.00	35	0	-	NM_014711		19537185	+1	tier1		no_errors	ENST00000396212	ensembl	human	known	74_37	splice_site_ins	14.00	43	7	INS	1.000:0.999	T
CCT5	22948	genome.wustl.edu	37	5	10262705	10262705	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:10262705T>C	ENST00000280326.4	+	9	1712	c.1292T>C	c.(1291-1293)cTg>cCg	p.L431P	CCT5_ENST00000503026.1_Missense_Mutation_p.L410P|CCT5_ENST00000515676.1_Missense_Mutation_p.L393P|CCT5_ENST00000515390.1_Missense_Mutation_p.L376P|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Missense_Mutation_p.L338P	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	431					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TCCTGTGCCCTGGCAGTTAGC	0.542																																																	0													158.0	131.0	140.0					5																	10262705		2203	4300	6503	SO:0001583	missense	0			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1292T>C	5.37:g.10262705T>C	ENSP00000280326:p.Leu431Pro		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.L431P	ENST00000280326.4	37	c.1292	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628308	0.87560	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.91747	0.7390	H	0.96720	3.87	0.80722	D	1	P;P;D;D;D	0.61697	0.889;0.944;0.99;0.99;0.99	D;D;D;D;D	0.77557	0.925;0.963;0.99;0.99;0.99	D	0.94213	0.7460	10	0.72032	D	0.01	-17.9864	14.4046	0.67073	0.0:0.0:0.0:1.0	.	338;376;429;431;431	B4DYD8;E7ENZ3;Q9BU08;A8K2X8;P48643	.;.;.;.;TCPE_HUMAN	P	431;410;376;404;393;338	ENSP00000280326:L431P;ENSP00000423318:L410P;ENSP00000426923:L376P;ENSP00000427297:L393P;ENSP00000423052:L338P	ENSP00000280326:L431P	L	+	2	0	CCT5	10315705	1.000000	0.71417	0.802000	0.32245	0.982000	0.71751	7.587000	0.82613	2.045000	0.60652	0.456000	0.33151	CTG	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.542	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2		0.00	55	0	T			10262705	+1			no_errors	ENST00000280326	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.997	C
CCT8L2	150160	genome.wustl.edu	37	22	17072732	17072732	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr22:17072732T>G	ENST00000359963.3	-	1	968	c.709A>C	c.(709-711)Agt>Cgt	p.S237R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	237					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGCACCACTTAACACTGTG	0.587																																																	0													83.0	77.0	79.0					22																	17072732		2203	4300	6503	SO:0001583	missense	0			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.709A>C	22.37:g.17072732T>G	ENSP00000353048:p.Ser237Arg		A4QPH3|Q9UJS3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1	p.S237R	ENST00000359963.3	37	c.709	CCDS13738.1	22	.	.	.	.	.	.	.	.	.	.	t	4.880	0.163569	0.09287	.	.	ENSG00000198445	ENST00000359963	T	0.78816	-1.21	1.78	-0.692	0.11301	.	2.554580	0.01993	U	0.045677	T	0.56761	0.2007	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.43245	-0.9403	10	0.33141	T	0.24	5.767	2.2193	0.03968	0.0:0.2167:0.323:0.4603	.	237	Q96SF2	TCPQM_HUMAN	R	237	ENSP00000353048:S237R	ENSP00000353048:S237R	S	-	1	0	CCT8L2	15452732	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.661000	0.05311	-0.030000	0.13804	0.312000	0.20444	AGT	CCT8L2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	ENSG00000198445		0.587	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8L2	HGNC	protein_coding	OTTHUMT00000280580.1	-	0.00	78	0	T			17072732	-1	tier1	-	no_errors	ENST00000359963	ensembl	human	known	74_37	missense	29.03	44	18	SNP	0.000	G
CDH20	28316	genome.wustl.edu	37	18	59174693	59174693	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr18:59174693A>G	ENST00000262717.4	+	6	1315	c.917A>G	c.(916-918)aAt>aGt	p.N306S	CDH20_ENST00000536675.2_Missense_Mutation_p.N306S|CDH20_ENST00000538374.1_Missense_Mutation_p.N306S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAAGGCATCAATGCAGAGATG	0.428																																																	0													183.0	158.0	167.0					18																	59174693		2203	4300	6503	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.917A>G	18.37:g.59174693A>G	ENSP00000262717:p.Asn306Ser		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N306S	ENST00000262717.4	37	c.917	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361632	0.82353	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.60040	0.22;0.22;0.22	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	M	0.89840	3.065	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.84786	0.0776	10	0.72032	D	0.01	.	16.0863	0.81056	1.0:0.0:0.0:0.0	.	306	Q9HBT6	CAD20_HUMAN	S	306	ENSP00000444767:N306S;ENSP00000442226:N306S;ENSP00000262717:N306S	ENSP00000262717:N306S	N	+	2	0	CDH20	57325673	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	9.339000	0.96797	2.197000	0.70478	0.454000	0.30748	AAT	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000101542		0.428	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	-	0.00	44	0	A	NM_031891		59174693	+1	tier1	-	no_errors	ENST00000262717	ensembl	human	known	74_37	missense	36.36	28	16	SNP	1.000	G
CEP170	9859	genome.wustl.edu	37	1	243288182	243288182	+	3'UTR	DEL	T	T	-	rs572223491		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:243288182delT	ENST00000366542.1	-	0	6375				CEP170_ENST00000366543.1_3'UTR|CEP170_ENST00000366544.1_3'UTR|CEP170_ENST00000468254.1_5'UTR	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa							centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCATTTACCTTTTTTTTTTT	0.249																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.*1569A>-	1.37:g.243288182delT			O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	RNA	DEL	-	NULL	ENST00000366542.1	37	NULL	CCDS44339.1	1																																																																																			CEP170	-	-	ENSG00000143702		0.249	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2		0.00	24	0	T	NM_014812		243288182	-1	tier1		no_errors	ENST00000468254	ensembl	human	known	74_37	rna	11.11	32	4	DEL	0.001	-
CFH	3075	genome.wustl.edu	37	1	196706106	196706106	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:196706106G>A	ENST00000367429.4	+	16	2806	c.2566G>A	c.(2566-2568)Gga>Aga	p.G856R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	856	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGCAAAGATGGAAGATGGCA	0.343																																																	0													86.0	82.0	83.0					1																	196706106		2203	4300	6503	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2566G>A	1.37:g.196706106G>A	ENSP00000356399:p.Gly856Arg		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G856R	ENST00000367429.4	37	c.2566	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	13.93	2.385467	0.42308	.	.	ENSG00000000971	ENST00000367429	T	0.72615	-0.67	5.91	5.0	0.66597	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.84502	0.5486	M	0.90483	3.12	0.80722	D	1	D	0.64830	0.994	P	0.62014	0.897	D	0.87026	0.2132	9	0.62326	D	0.03	.	12.1191	0.53882	0.0795:0.0:0.9205:0.0	.	856	P08603	CFAH_HUMAN	R	856	ENSP00000356399:G856R	ENSP00000356399:G856R	G	+	1	0	CFH	194972729	1.000000	0.71417	0.120000	0.21714	0.072000	0.16883	4.139000	0.58024	1.512000	0.48834	0.555000	0.69702	GGA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	-	0.00	50	0	G	NM_000186		196706106	+1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	missense	51.43	17	18	SNP	0.884	A
CFHR5	81494	genome.wustl.edu	37	1	196964906	196964906	+	Silent	SNP	A	A	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:196964906A>C	ENST00000256785.4	+	5	776	c.667A>C	c.(667-669)Aga>Cga	p.R223R	CFHR5_ENST00000367414.5_Silent_p.R247R			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	223	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TAAGGAGATAAGAAAAGAGGA	0.348																																																	0													113.0	117.0	115.0					1																	196964906		2203	4300	6503	SO:0001819	synonymous_variant	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.667A>C	1.37:g.196964906A>C			Q2NKK2	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R247	ENST00000256785.4	37	c.739	CCDS1387.1	1																																																																																			CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134389		0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	-	0.00	26	0	A	NM_030787		196964906	+1	tier1	-	no_errors	ENST00000367414	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.000	C
CGNL1	84952	genome.wustl.edu	37	15	57753959	57753959	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:57753959C>T	ENST00000281282.5	+	8	2350	c.2272C>T	c.(2272-2274)Cgt>Tgt	p.R758C		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	758						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAAGCGAGAGCGTGAACTCAC	0.502																																																	0													103.0	98.0	100.0					15																	57753959		2192	4292	6484	SO:0001583	missense	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2272C>T	15.37:g.57753959C>T	ENSP00000281282:p.Arg758Cys		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.R758C	ENST00000281282.5	37	c.2272	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397637	0.62177	.	.	ENSG00000128849	ENST00000281282	T	0.44881	0.91	5.52	4.6	0.57074	.	0.000000	0.52532	D	0.000064	T	0.58104	0.2099	M	0.78456	2.415	0.58432	D	0.999995	D	0.76494	0.999	P	0.53954	0.738	T	0.66044	-0.6021	10	0.87932	D	0	-8.8821	14.9074	0.70730	0.2591:0.7409:0.0:0.0	.	758	Q0VF96	CGNL1_HUMAN	C	758	ENSP00000281282:R758C	ENSP00000281282:R758C	R	+	1	0	CGNL1	55541251	1.000000	0.71417	0.994000	0.49952	0.816000	0.46133	2.461000	0.45040	1.316000	0.45131	0.448000	0.29417	CGT	CGNL1	-	NULL	ENSG00000128849		0.502	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	-	0.00	45	0	C	NM_032866		57753959	+1	tier1	-	no_errors	ENST00000281282	ensembl	human	known	74_37	missense	61.90	8	13	SNP	1.000	T
CLEC4A	50856	genome.wustl.edu	37	12	8290839	8290839	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:8290839G>C	ENST00000229332.5	+	6	917	c.670G>C	c.(670-672)Ggt>Cgt	p.G224R	CLEC4A_ENST00000345999.3_Missense_Mutation_p.G152R|CLEC4A_ENST00000352620.3_Missense_Mutation_p.G191R|CLEC4A_ENST00000360500.3_Missense_Mutation_p.G185R	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	224	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TAATTGTCTTGGTCCTCAAAG	0.448																																																	0													231.0	202.0	212.0					12																	8290839		2203	4300	6503	SO:0001583	missense	0			AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.670G>C	12.37:g.8290839G>C	ENSP00000229332:p.Gly224Arg		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.G224R	ENST00000229332.5	37	c.670	CCDS8590.1	12	.	.	.	.	.	.	.	.	.	.	G	2.461	-0.324128	0.05350	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.12	-2.73	0.05950	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	10.068400	0.00166	N	0.000014	T	0.11452	0.0279	N	0.21097	0.63	0.09310	N	1	B;B;B;B	0.12013	0.001;0.005;0.005;0.001	B;B;B;B	0.18263	0.007;0.013;0.021;0.013	T	0.26538	-1.0100	10	0.13470	T	0.59	.	8.2186	0.31528	0.1812:0.5835:0.2353:0.0	.	185;152;191;224	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	R	224;152;191;185	ENSP00000229332:G224R;ENSP00000344646:G152R;ENSP00000247243:G191R;ENSP00000353690:G185R	ENSP00000229332:G224R	G	+	1	0	CLEC4A	8182106	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.530000	0.00944	-0.546000	0.06216	-0.291000	0.09656	GGT	CLEC4A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000111729		0.448	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4A	HGNC	protein_coding	OTTHUMT00000400257.1	-	0.00	37	0	G	NM_194450		8290839	+1	tier1	-	no_errors	ENST00000229332	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.000	C
CNEP1R1	255919	genome.wustl.edu	37	16	50059531	50059531	+	Intron	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:50059531C>T	ENST00000427478.2	+	1	79				CNEP1R1_ENST00000567712.1_3'UTR|CNEP1R1_ENST00000458059.3_Intron|CNEP1R1_ENST00000562576.1_Intron|CNEP1R1_ENST00000565556.1_5'UTR	NM_001281789.1	NP_001268718.1	Q8N9A8	NEPR1_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1						lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965)											TGCATTGCAGCCTGCTAATTC	0.507																																																	0													75.0	71.0	72.0					16																	50059531		1891	4118	6009	SO:0001627	intron_variant	0			AK095420	CCDS45480.1, CCDS61931.1	16q12.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000205423	ENSG00000205423			26759	protein-coding gene	gene with protein product	"""nuclear envelope phosphatase 1-regulatory subunit 1"""		"""chromosome 16 open reading frame 69"", ""transmembrane protein 188"""	C16orf69, TMEM188		22134922	Standard	NM_153261		Approved	FLJ38101, NEP1-R1	uc002eft.3	Q8N9A8		ENST00000427478.2:c.25+280C>T	16.37:g.50059531C>T			Q4G1A9|Q5H9V0|Q8NE06	RNA	SNP	-	NULL	ENST00000427478.2	37	NULL		16																																																																																			CNEP1R1	-	-	ENSG00000205423		0.507	CNEP1R1-201	KNOWN	basic|appris_principal	protein_coding	CNEP1R1	HGNC	protein_coding		-	0.00	42	0	C	NM_153261		50059531	+1	tier1	-	no_errors	ENST00000567712	ensembl	human	known	74_37	rna	39.39	20	13	SNP	0.000	T
CNGB3	54714	genome.wustl.edu	37	8	87683188	87683188	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:87683188T>G	ENST00000320005.5	-	4	524	c.477A>C	c.(475-477)gaA>gaC	p.E159D		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	159					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTGGGCTGGCTTCGGGTGAGG	0.493																																																	0													195.0	195.0	195.0					8																	87683188		2203	4300	6503	SO:0001583	missense	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.477A>C	8.37:g.87683188T>G	ENSP00000316605:p.Glu159Asp		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E159D	ENST00000320005.5	37	c.477	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609375	0.66558	.	.	ENSG00000170289	ENST00000320005	T	0.61274	0.12	5.53	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	L	0.55990	1.75	0.47778	D	0.999519	P;P	0.37636	0.603;0.468	B;B	0.42827	0.399;0.225	T	0.50474	-0.8824	10	0.51188	T	0.08	.	9.7213	0.40304	0.0:0.1798:0.0:0.8202	.	159;159	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	D	159	ENSP00000316605:E159D	ENSP00000316605:E159D	E	-	3	2	CNGB3	87752304	0.176000	0.23096	0.978000	0.43139	0.867000	0.49689	0.207000	0.17395	0.082000	0.17018	0.482000	0.46254	GAA	CNGB3	-	NULL	ENSG00000170289		0.493	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	-	0.00	63	0	T	NM_019098		87683188	-1	tier1	-	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	77.59	13	45	SNP	0.998	G
CNOT6	57472	genome.wustl.edu	37	5	179998294	179998294	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:179998294G>T	ENST00000393356.1	+	13	1747	c.1323G>T	c.(1321-1323)agG>agT	p.R441S	CNOT6_ENST00000261951.4_Missense_Mutation_p.R441S			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	441	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		AGGAGTTGAGGTATAATGAAA	0.368																																																	0													113.0	107.0	109.0					5																	179998294		2203	4300	6503	SO:0001583	missense	0			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1323G>T	5.37:g.179998294G>T	ENSP00000377024:p.Arg441Ser		A7MD46|D3DWR0	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.R441S	ENST00000393356.1	37	c.1323	CCDS4455.1	5	.	.	.	.	.	.	.	.	.	.	G	9.920	1.211846	0.22289	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.31769	1.48;1.48	5.86	0.732	0.18283	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	N	0.20357	0.565	0.58432	D	0.999997	B	0.29341	0.242	B	0.29353	0.101	T	0.09443	-1.0674	9	.	.	.	-14.8492	9.6133	0.39676	0.7296:0.0:0.2704:0.0	.	441	Q9ULM6	CNOT6_HUMAN	S	441	ENSP00000261951:R441S;ENSP00000377024:R441S	.	R	+	3	2	CNOT6	179930900	0.977000	0.34250	0.953000	0.39169	0.705000	0.40729	0.364000	0.20325	-0.089000	0.12484	-0.302000	0.09304	AGG	CNOT6	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000113300		0.368	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	HGNC	protein_coding	OTTHUMT00000253532.1	-	0.00	47	0	G	NM_015455		179998294	+1	tier1	-	no_errors	ENST00000261951	ensembl	human	known	74_37	missense	84.00	4	21	SNP	0.997	T
CNTNAP5	129684	genome.wustl.edu	37	2	125192205	125192205	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:125192205G>A	ENST00000431078.1	+	5	1038	c.674G>A	c.(673-675)cGt>cAt	p.R225H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	225	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAAGGTCAGCGTGGAGACCAC	0.512																																																	0													76.0	78.0	77.0					2																	125192205		2094	4230	6324	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.674G>A	2.37:g.125192205G>A	ENSP00000399013:p.Arg225His		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R225H	ENST00000431078.1	37	c.674	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538270	0.45176	.	.	ENSG00000155052	ENST00000431078	T	0.79033	-1.23	5.48	4.41	0.53225	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48286	D	0.000192	T	0.66127	0.2758	L	0.31207	0.915	0.53688	D	0.999975	B	0.34226	0.443	B	0.31812	0.136	T	0.66085	-0.6011	10	0.33940	T	0.23	.	14.2517	0.66023	0.084:0.0:0.916:0.0	.	225	Q8WYK1	CNTP5_HUMAN	H	225	ENSP00000399013:R225H	ENSP00000399013:R225H	R	+	2	0	CNTNAP5	124908675	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	5.625000	0.67770	2.576000	0.86940	0.655000	0.94253	CGT	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.512	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0.00	29	0	G			125192205	+1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	50.00	12	12	SNP	0.992	A
COL20A1	57642	genome.wustl.edu	37	20	61960843	61960843	+	Intron	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:61960843C>T	ENST00000358894.6	+	35	3881				COL20A1_ENST00000326996.6_Intron|COL20A1_ENST00000435874.1_Intron|COL20A1_ENST00000422202.1_Intron|COL20A1_ENST00000496810.1_3'UTR	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGCCTGTGCCCAGGGAGGGG	0.662																																																	0																																										SO:0001627	intron_variant	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3782-94C>T	20.37:g.61960843C>T			Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	RNA	SNP	-	NULL	ENST00000358894.6	37	NULL	CCDS46628.1	20																																																																																			COL20A1	-	-	ENSG00000101203		0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	-	0.00	17	0	C	NM_020882		61960843	+1	tier1	-	no_errors	ENST00000496810	ensembl	human	putative	74_37	rna	50.00	15	15	SNP	0.002	T
COL5A1	1289	genome.wustl.edu	37	9	137623484	137623484	+	Missense_Mutation	SNP	C	C	T	rs144269434		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:137623484C>T	ENST00000371817.3	+	8	1721	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	436	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGAATGCCGGCGAACCAGGAT	0.637																																																	0								C	VAL/ALA	0,4406		0,0,2203	85.0	85.0	85.0		1307	4.1	0.5	9	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	436/1839	137623484	1,13005	2203	4300	6503	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1307C>T	9.37:g.137623484C>T	ENSP00000360882:p.Ala436Val		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.A436V	ENST00000371817.3	37	c.1307	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583617	0.46006	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.90197	-2.63	4.06	4.06	0.47325	.	0.085282	0.47455	U	0.000236	D	0.92241	0.7539	L	0.42744	1.35	0.45284	D	0.998285	D	0.76494	0.999	D	0.65874	0.939	D	0.92199	0.5766	10	0.46703	T	0.11	.	14.4191	0.67171	0.0:1.0:0.0:0.0	.	436	P20908	CO5A1_HUMAN	V	436	ENSP00000360882:A436V	ENSP00000360882:A436V	A	+	2	0	COL5A1	136763305	0.994000	0.37717	0.471000	0.27229	0.591000	0.36615	4.459000	0.60102	1.799000	0.52666	0.313000	0.20887	GCG	COL5A1	-	NULL	ENSG00000130635		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0.00	76	0	C	NM_000093		137623484	+1	tier1	rs144269434	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	31.34	46	21	SNP	0.779	T
CPED1	79974	genome.wustl.edu	37	7	120911387	120911388	+	Frame_Shift_Ins	INS	-	-	A	rs141494536	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:120911387_120911388insA	ENST00000310396.5	+	22	3238_3239	c.2771_2772insA	c.(2770-2775)gcaaaafs	p.AK924fs		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	924						endoplasmic reticulum (GO:0005783)											CTGGATACTGCAAAAAAACATG	0.351																																																	0																																										SO:0001589	frameshift_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2778dupA	7.37:g.120911394_120911394dupA	ENSP00000309772:p.Ala924fs		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Frame_Shift_Ins	INS	NULL	p.H927fs	ENST00000310396.5	37	c.2771_2772	CCDS34739.1	7																																																																																			CPED1	-	NULL	ENSG00000106034		0.351	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1		0.00	42	0	-	NM_024913		120911388	+1	tier1		no_errors	ENST00000310396	ensembl	human	known	74_37	frame_shift_ins	40.48	25	17	INS	1.000:1.000	A
CPT1C	126129	genome.wustl.edu	37	19	50208474	50208474	+	Silent	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:50208474T>C	ENST00000392518.4	+	10	1255	c.883T>C	c.(883-885)Ttg>Ctg	p.L295L	CPT1C_ENST00000323446.5_Silent_p.L295L|CPT1C_ENST00000405931.2_Silent_p.L284L|CPT1C_ENST00000598293.1_Silent_p.L295L|CPT1C_ENST00000354199.5_Silent_p.L295L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	295					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCTGCAGACTTTGCTGATGGG	0.597																																																	0													140.0	129.0	133.0					19																	50208474		2203	4300	6503	SO:0001819	synonymous_variant	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.883T>C	19.37:g.50208474T>C			A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	pfam_Carn_acyl_trans	p.L295	ENST00000392518.4	37	c.883	CCDS12779.1	19																																																																																			CPT1C	-	pfam_Carn_acyl_trans	ENSG00000169169		0.597	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1		0.00	16	0	T	NM_152359		50208474	+1			no_errors	ENST00000323446	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.062	C
CRYZ	1429	genome.wustl.edu	37	1	75172868	75172868	+	Silent	SNP	T	T	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:75172868T>A	ENST00000340866.5	-	7	738	c.651A>T	c.(649-651)ggA>ggT	p.G217G	CRYZ_ENST00000417775.1_Silent_p.G217G|CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000370872.3_Silent_p.G80G|CRYZ_ENST00000370871.3_Intron	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	217					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	TTATATCAATTCCTTTCTCAC	0.289																																																	0													62.0	73.0	69.0					1																	75172868		2187	4278	6465	SO:0001819	synonymous_variant	0				CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.651A>T	1.37:g.75172868T>A			A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.G217	ENST00000340866.5	37	c.651	CCDS665.1	1																																																																																			CRYZ	-	pfam_ADH_C,smart_PKS_ER	ENSG00000116791		0.289	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYZ	HGNC	protein_coding	OTTHUMT00000026514.1	-	0.00	30	0	T			75172868	-1	tier1	-	no_errors	ENST00000340866	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.892	A
CSRNP1	64651	genome.wustl.edu	37	3	39184677	39184677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:39184677delC	ENST00000273153.5	-	5	1816	c.1639delG	c.(1639-1641)gatfs	p.D547fs	CSRNP1_ENST00000514182.1_Frame_Shift_Del_p.D547fs	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	547					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTGCTGGCATCCCCAGGTGGA	0.582																																																	0													53.0	61.0	59.0					3																	39184677		2203	4300	6503	SO:0001589	frameshift_variant	0			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1639delG	3.37:g.39184677delC	ENSP00000273153:p.Asp547fs		Q69YY5	Frame_Shift_Del	DEL	prints_Cys/Ser-rich_nuc_prot	p.D547fs	ENST00000273153.5	37	c.1639	CCDS2682.1	3																																																																																			CSRNP1	-	NULL	ENSG00000144655		0.582	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP1	HGNC	protein_coding	OTTHUMT00000254061.1		0.00	71	0	C	NM_033027		39184677	-1	tier1		no_errors	ENST00000273153	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.997	-
CTNND2	1501	genome.wustl.edu	37	5	11023020	11023020	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:11023020C>A	ENST00000304623.8	-	17	3049	c.2860G>T	c.(2860-2862)Gcc>Tcc	p.A954S	CTNND2_ENST00000458100.2_Missense_Mutation_p.A521S|CTNND2_ENST00000503622.1_Missense_Mutation_p.A617S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A896S|CTNND2_ENST00000511377.1_Missense_Mutation_p.A863S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	954					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						TCCGACATGGCCTTGCTTGCA	0.512																																																	0													223.0	166.0	186.0					5																	11023020		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.2860G>T	5.37:g.11023020C>A	ENSP00000307134:p.Ala954Ser		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A954S	ENST00000304623.8	37	c.2860	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308900	0.23821	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.77098	-0.93;-0.99;-0.94;-1.07;-1.06	5.64	3.87	0.44632	Armadillo-like helical (1);Armadillo-type fold (1);	0.246987	0.41605	D	0.000846	T	0.62380	0.2423	N	0.20807	0.61	0.42538	D	0.993065	B;B;B	0.12013	0.005;0.005;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.53947	-0.8366	10	0.27082	T	0.32	-10.9711	11.6881	0.51499	0.0:0.8587:0.0:0.1413	.	617;546;954	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	S	954;896;863;49;521;617	ENSP00000307134:A954S;ENSP00000352661:A896S;ENSP00000426510:A863S;ENSP00000391155:A521S;ENSP00000426887:A617S	ENSP00000307134:A954S	A	-	1	0	CTNND2	11076020	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.603000	0.36794	0.755000	0.32990	0.655000	0.94253	GCC	CTNND2	-	superfamily_ARM-type_fold	ENSG00000169862		0.512	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	-	0.00	93	0	C	NM_001332		11023020	-1	tier1	-	no_errors	ENST00000304623	ensembl	human	known	74_37	missense	51.28	19	20	SNP	1.000	A
CYFIP1	23191	genome.wustl.edu	37	15	22933760	22933760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:22933760C>T	ENST00000313077.7	+	8	804	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	CYFIP1_ENST00000560848.1_Nonsense_Mutation_p.Q227*	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)		TCTGCAGCAGCAGCTCGAAGT	0.537																																																	0													115.0	116.0	116.0					15																	22933760		2203	4300	6503	SO:0001587	stop_gained	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.679C>T	15.37:g.22933760C>T	ENSP00000324549:p.Gln227*			Nonsense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.Q227*	ENST00000313077.7	37	c.679	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.551234	0.97658	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-35.2259	19.7269	0.96168	0.0:1.0:0.0:0.0	.	.	.	.	X	227;255	.	ENSP00000324549:Q227X	Q	+	1	0	CYFIP1	20485201	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	7.692000	0.84203	2.675000	0.91044	0.555000	0.69702	CAG	CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.537	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	-	0.00	38	0	C	NM_014608		22933760	+1	tier1	-	no_errors	ENST00000313077	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	1.000	T
AD000091.2	0	genome.wustl.edu	37	19	15726480	15726480	+	lincRNA	SNP	C	C	A	rs141696823	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:15726480C>A	ENST00000589196.2	-	0	0				CYP4F8_ENST00000441682.2_RNA																							GCAGCATCCCCGTGGCTGCTC	0.672																																																	0													27.0	30.0	29.0					19																	15726480		2202	4297	6499			0																															19.37:g.15726480C>A				RNA	SNP	-	NULL	ENST00000589196.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	c	12.53	1.966356	0.34659	.	.	ENSG00000186526	ENST00000441682	.	.	.	2.49	1.45	0.22620	.	0.745300	0.11642	U	0.543682	T	0.61751	0.2372	.	.	.	.	.	.	D;D	0.89917	1.0;0.991	D;P	0.91635	0.999;0.872	T	0.62895	-0.6757	7	0.56958	D	0.05	.	4.9871	0.14196	0.0:0.8255:0.0:0.1745	.	18;18	B4DU32;P98187	.;CP4F8_HUMAN	Q	18	.	ENSP00000409702:P18Q	P	+	2	0	CYP4F8	15587480	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.061000	0.11693	0.614000	0.30107	0.313000	0.20887	CCG	CYP4F8	-	-	ENSG00000186526		0.672	AD000091.2-001	KNOWN	basic	lincRNA	CYP4F8	HGNC	lincRNA	OTTHUMT00000460896.2	-	0.00	112	0	C			15726480	+1	tier1	-	no_errors	ENST00000325723	ensembl	human	known	74_37	rna	5.32	88	5	SNP	0.002	A
DCAF12L2	340578	genome.wustl.edu	37	X	125298723	125298723	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:125298723C>T	ENST00000360028.2	-	1	1211	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P	DCAF12L2_ENST00000538699.1_Silent_p.P395P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	395										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGCGGGCCCCGGCATGGAGT	0.612																																																	0													71.0	76.0	74.0					X																	125298723		2198	4299	6497	SO:0001819	synonymous_variant	0			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1185G>A	X.37:g.125298723C>T			B2RN42	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P395	ENST00000360028.2	37	c.1185	CCDS43991.1	X																																																																																			DCAF12L2	-	NULL	ENSG00000198354		0.612	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	-	0.00	30	0	C	NM_001013628		125298723	-1	tier1	-	no_errors	ENST00000360028	ensembl	human	known	74_37	silent	35.42	31	17	SNP	0.000	T
DCAF12L1	139170	genome.wustl.edu	37	X	125686171	125686171	+	Missense_Mutation	SNP	C	C	A	rs201996325		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:125686171C>A	ENST00000371126.1	-	1	663	c.421G>T	c.(421-423)Gcc>Tcc	p.A141S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	141										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCAGCCTGGCCTCACTGTCC	0.637																																																	0													101.0	85.0	91.0					X																	125686171		2203	4300	6503	SO:0001583	missense	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.421G>T	X.37:g.125686171C>A	ENSP00000360167:p.Ala141Ser		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A141S	ENST00000371126.1	37	c.421	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	C	1.612	-0.523768	0.04141	.	.	ENSG00000198889	ENST00000371126	T	0.31510	1.49	4.15	1.05	0.20165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.14830	0.0358	N	0.24115	0.695	0.09310	N	1	B	0.26672	0.156	B	0.19666	0.026	T	0.30851	-0.9964	9	0.08599	T	0.76	.	5.4821	0.16729	0.1279:0.4684:0.4037:0.0	.	141	Q5VU92	DC121_HUMAN	S	141	ENSP00000360167:A141S	ENSP00000360167:A141S	A	-	1	0	DCAF12L1	125513852	0.534000	0.26362	0.073000	0.20177	0.119000	0.20118	2.388000	0.44398	0.318000	0.23185	0.424000	0.28305	GCC	DCAF12L1	-	superfamily_WD40_repeat_dom	ENSG00000198889		0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0.00	59	0	C	NM_178470		125686171	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	missense	50.68	36	37	SNP	0.006	A
DDX41	51428	genome.wustl.edu	37	5	176939340	176939340	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:176939340delA	ENST00000507955.1	-	15	2127	c.1604delT	c.(1603-1605)ttcfs	p.F535fs	DOK3_ENST00000357198.4_5'Flank|DOK3_ENST00000377112.4_5'Flank|DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000501403.2_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	535	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTTGTTGATGAAGGTAGTGGC	0.612																																																	0													129.0	117.0	121.0					5																	176939340		2203	4300	6503	SO:0001589	frameshift_variant	0			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1604delT	5.37:g.176939340delA	ENSP00000422753:p.Phe535fs		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.F535fs	ENST00000507955.1	37	c.1604	CCDS4427.1	5																																																																																			DDX41	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000183258		0.612	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2		0.00	28	0	A	NM_016222		176939340	-1	tier1		no_errors	ENST00000507955	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	1.000	-
DIAPH2	1730	genome.wustl.edu	37	X	95993591	95993591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:95993591C>T	ENST00000324765.8	+	3	519	c.172C>T	c.(172-174)Cga>Tga	p.R58*	DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.R58*|DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.R58*|DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.R58*|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.R47*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	58					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.R58*(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCAGCGTGACCGAATTACAAG	0.333																																																	1	Substitution - Nonsense(1)	lung(1)											32.0	32.0	32.0					X																	95993591		2202	4299	6501	SO:0001587	stop_gained	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.172C>T	X.37:g.95993591C>T	ENSP00000321348:p.Arg58*		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Nonsense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.R58*	ENST00000324765.8	37	c.172	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.640005	0.98897	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	.	.	.	5.62	4.7	0.59300	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7693	0.46312	0.3891:0.6109:0.0:0.0	.	.	.	.	X	58;47;58;58;58;58	.	ENSP00000321348:R58X	R	+	1	2	DIAPH2	95880247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.712000	0.61888	2.353000	0.79882	0.600000	0.82982	CGA	DIAPH2	-	NULL	ENSG00000147202		0.333	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2		0.00	10	0	C	NM_006729, NM_007309		95993591	+1			no_errors	ENST00000324765	ensembl	human	known	74_37	nonsense	53.85	6	7	SNP	1.000	T
DLGAP2	9228	genome.wustl.edu	37	8	1574961	1574961	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:1574961G>A	ENST00000421627.2	+	4	1392	c.1258G>A	c.(1258-1260)Gct>Act	p.A420T		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	499					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCTGGACCCCGCTGCGAACTA	0.602																																																	0													47.0	50.0	49.0					8																	1574961		2020	4174	6194	SO:0001583	missense	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1258G>A	8.37:g.1574961G>A	ENSP00000400258:p.Ala420Thr		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.A420T	ENST00000421627.2	37	c.1258	CCDS47760.1	8	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538278	0.27475	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.21932	1.98	5.16	-2.03	0.07365	.	0.367137	0.31963	N	0.006782	T	0.11707	0.0285	L	0.34521	1.04	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.001	T	0.22382	-1.0218	10	0.26408	T	0.33	-2.6424	7.2321	0.26049	0.3056:0.0:0.378:0.3165	.	499;499	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	T	465;420	ENSP00000400258:A420T	ENSP00000348366:A465T	A	+	1	0	DLGAP2	1562368	0.004000	0.15560	0.098000	0.21074	0.661000	0.39034	0.060000	0.14342	-0.252000	0.09528	-0.783000	0.03347	GCT	DLGAP2	-	NULL	ENSG00000198010		0.602	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	-	0.00	33	0	G	NM_004745		1574961	+1	tier1	-	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	75.00	7	21	SNP	0.017	A
DNAH6	1768	genome.wustl.edu	37	2	84930558	84930558	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:84930558G>A	ENST00000237449.6	+	49	8109	c.8101G>A	c.(8101-8103)Gaa>Aaa	p.E2701K	DNAH6_ENST00000389394.3_Missense_Mutation_p.E2701K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2701	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAAGCTACTAGAAACAAACAT	0.338																																																	0													117.0	102.0	107.0					2																	84930558		692	1591	2283	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.8101G>A	2.37:g.84930558G>A	ENSP00000237449:p.Glu2701Lys		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E2701K	ENST00000237449.6	37	c.8101	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143526	0.77888	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.74106	-0.81;-0.81	5.65	4.78	0.61160	Dynein heavy chain, coiled coil stalk (1);	.	.	.	.	D	0.87132	0.6101	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.88625	0.3165	9	0.56958	D	0.05	.	13.5042	0.61476	0.0761:0.0:0.9239:0.0	.	2701	Q9C0G6	DYH6_HUMAN	K	2701	ENSP00000374045:E2701K;ENSP00000237449:E2701K	ENSP00000237449:E2701K	E	+	1	0	DNAH6	84784069	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	6.164000	0.71885	1.391000	0.46566	-0.136000	0.14681	GAA	DNAH6	-	superfamily_P-loop_NTPase	ENSG00000115423		0.338	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2		0.00	25	0	G	NM_001370		84930558	+1			no_errors	ENST00000237449	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A
DNAJB2	3300	genome.wustl.edu	37	2	220149625	220149625	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:220149625G>A	ENST00000336576.5	+	9	1179	c.891G>A	c.(889-891)ggG>ggA	p.G297G	DNAJB2_ENST00000392086.4_Intron	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	297					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCTTGGGGGGGACCCAGG	0.667																																																	0													17.0	20.0	19.0					2																	220149625		2197	4297	6494	SO:0001819	synonymous_variant	0				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.891G>A	2.37:g.220149625G>A			A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Silent	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain	p.G297	ENST00000336576.5	37	c.891	CCDS2439.1	2																																																																																			DNAJB2	-	NULL	ENSG00000135924		0.667	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	DNAJB2	HGNC	protein_coding	OTTHUMT00000256823.2	-	0.00	47	0	G			220149625	+1	tier1	-	no_errors	ENST00000336576	ensembl	human	known	74_37	silent	41.18	20	14	SNP	0.015	A
DNM1L	10059	genome.wustl.edu	37	12	32863935	32863935	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:32863935C>T	ENST00000549701.1	+	5	516	c.442C>T	c.(442-444)Cca>Tca	p.P148S	DNM1L_ENST00000381000.4_Missense_Mutation_p.P161S|DNM1L_ENST00000547312.1_Missense_Mutation_p.P148S|DNM1L_ENST00000553257.1_Missense_Mutation_p.P161S|DNM1L_ENST00000452533.2_Missense_Mutation_p.P148S|DNM1L_ENST00000358214.5_Missense_Mutation_p.P161S|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000266481.6_Missense_Mutation_p.P148S			O00429	DNM1L_HUMAN	dynamin 1-like	148	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGTGGATTTGCCAGGAATGAC	0.338																																																	0													112.0	111.0	111.0					12																	32863935		2203	4300	6503	SO:0001583	missense	0			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.442C>T	12.37:g.32863935C>T	ENSP00000450399:p.Pro148Ser		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.P161S	ENST00000549701.1	37	c.481	CCDS8729.1	12	.	.	.	.	.	.	.	.	.	.	C	30	5.051206	0.93740	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000551476;ENST00000550154;ENST00000547312;ENST00000381000	D;D;D;D;D;D;D;D;D	0.99769	-6.7;-6.7;-6.7;-6.7;-6.7;-6.7;-6.7;-6.7;-6.7	5.47	5.47	0.80525	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	H	0.99336	4.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96134	0.9095	10	0.87932	D	0	.	18.9533	0.92647	0.0:1.0:0.0:0.0	.	201;201;214;201;148	D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;DNM1L_HUMAN	S	148;214;148;161;148;161;148;131;124;148;161	ENSP00000415131:P148S;ENSP00000449089:P161S;ENSP00000450399:P148S;ENSP00000350948:P161S;ENSP00000266481:P148S;ENSP00000447845:P131S;ENSP00000447013:P124S;ENSP00000448610:P148S;ENSP00000370388:P161S	ENSP00000266479:P148S	P	+	1	0	DNM1L	32755202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.593000	0.82686	2.556000	0.86216	0.557000	0.71058	CCA	DNM1L	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	ENSG00000087470		0.338	DNM1L-003	KNOWN	basic|CCDS	protein_coding	DNM1L	HGNC	protein_coding	OTTHUMT00000404124.1	-	0.00	47	0	C	NM_012062		32863935	+1	tier1	-	no_errors	ENST00000553257	ensembl	human	known	74_37	missense	9.30	38	4	SNP	1.000	T
DOCK5	80005	genome.wustl.edu	37	8	25158123	25158123	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:25158123G>T	ENST00000276440.7	+	9	840	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	DOCK5_ENST00000481100.1_Missense_Mutation_p.G266W	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	266					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGGCAGTAACGGGATGCCCAA	0.423																																					Pancreas(145;34 1887 3271 10937 30165)												0													138.0	123.0	128.0					8																	25158123		2203	4300	6503	SO:0001583	missense	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.796G>T	8.37:g.25158123G>T	ENSP00000276440:p.Gly266Trp		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.G266W	ENST00000276440.7	37	c.796	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908580	0.92107	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.18810	2.19;2.19	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63010	-0.6732	10	0.87932	D	0	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	266	Q9H7D0	DOCK5_HUMAN	W	266	ENSP00000429737:G266W;ENSP00000276440:G266W	ENSP00000276440:G266W	G	+	1	0	DOCK5	25214040	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	9.758000	0.98927	2.809000	0.96659	0.555000	0.69702	GGG	DOCK5	-	NULL	ENSG00000147459		0.423	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2		0.00	42	0	G	NM_024940		25158123	+1			no_errors	ENST00000276440	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T
DOT1L	84444	genome.wustl.edu	37	19	2191155	2191155	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:2191155G>T	ENST00000398665.3	+	5	445	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	137	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.|S-adenosyl-L-methionine binding.				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)	p.G137R(1)		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)		CGAGGTGTACGGGGAGACCTC	0.602																																																	1	Substitution - Missense(1)	large_intestine(1)											101.0	114.0	109.0					19																	2191155		2096	4222	6318	SO:0001583	missense	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.409G>T	19.37:g.2191155G>T	ENSP00000381657:p.Gly137Trp		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.G137W	ENST00000398665.3	37	c.409	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685049	0.88639	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	T;T	0.30714	1.52;1.52	4.75	4.75	0.60458	.	0.053373	0.85682	D	0.000000	T	0.67258	0.2874	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78838	-0.2046	10	0.87932	D	0	-27.5326	16.8009	0.85614	0.0:0.0:1.0:0.0	.	137	Q8TEK3-2	.	W	137;137;113	ENSP00000381657:G137W;ENSP00000404284:G113W	ENSP00000221482:G137W	G	+	1	0	DOT1L	2142155	1.000000	0.71417	0.987000	0.45799	0.930000	0.56654	9.169000	0.94788	2.193000	0.70182	0.555000	0.69702	GGG	DOT1L	-	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.602	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1		0.00	41	0	G	NM_032482		2191155	+1			no_errors	ENST00000398665	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T
DPEP3	64180	genome.wustl.edu	37	16	68012481	68012481	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:68012481G>A	ENST00000268793.4	-	3	911	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	155					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.R180S(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AGGGCGAGGCGCACGGCAGTC	0.607																																																	1	Substitution - Missense(1)	lung(1)											149.0	131.0	137.0					16																	68012481		2198	4300	6498	SO:0001583	missense	0			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.538C>T	16.37:g.68012481G>A	ENSP00000268793:p.Arg180Cys		B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	pfam_Peptidase_M19	p.R180C	ENST00000268793.4	37	c.538	CCDS10856.1	16	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444005	0.63067	.	.	ENSG00000141096	ENST00000268793	T	0.24908	1.83	4.88	4.88	0.63580	.	0.120700	0.50627	D	0.000107	T	0.58652	0.2137	H	0.94658	3.565	0.58432	D	0.999998	D	0.89917	1.0	D	0.69479	0.964	T	0.69109	-0.5232	10	0.87932	D	0	.	10.7548	0.46230	0.0:0.0:0.8101:0.1899	.	155	Q9H4B8	DPEP3_HUMAN	C	180	ENSP00000268793:R180C	ENSP00000268793:R180C	R	-	1	0	DPEP3	66569982	1.000000	0.71417	0.860000	0.33809	0.658000	0.38924	2.169000	0.42434	2.269000	0.75478	0.561000	0.74099	CGC	DPEP3	-	pfam_Peptidase_M19	ENSG00000141096		0.607	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	-	0.00	58	0	G	NM_022357		68012481	-1	tier1	-	no_errors	ENST00000268793	ensembl	human	known	74_37	missense	63.16	14	24	SNP	0.997	A
DPP4	1803	genome.wustl.edu	37	2	162875300	162875300	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:162875300C>T	ENST00000360534.3	-	16	1919	c.1359G>A	c.(1357-1359)agG>agA	p.R453R	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	453					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AGTACTGACACCTTTCCGGAT	0.458																																																	0													156.0	141.0	146.0					2																	162875300		2203	4300	6503	SO:0001819	synonymous_variant	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1359G>A	2.37:g.162875300C>T			Q53TN1	Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.R453	ENST00000360534.3	37	c.1359	CCDS2216.1	2																																																																																			DPP4	-	pfam_Peptidase_S9B	ENSG00000197635		0.458	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	-	0.00	35	0	C			162875300	-1	tier1	-	no_errors	ENST00000360534	ensembl	human	known	74_37	silent	23.08	20	6	SNP	0.995	T
DPP6	1804	genome.wustl.edu	37	7	154429553	154429553	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:154429553G>T	ENST00000377770.3	+	6	791	c.650G>T	c.(649-651)gGa>gTa	p.G217V	DPP6_ENST00000332007.3_Missense_Mutation_p.G155V|DPP6_ENST00000404039.1_Missense_Mutation_p.G153V|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	217					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCGTATACTGGATATTACGTC	0.368																																					NSCLC(125;1384 1783 2490 7422 34254)												0													156.0	128.0	137.0					7																	154429553		1844	4096	5940	SO:0001583	missense	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.650G>T	7.37:g.154429553G>T	ENSP00000367001:p.Gly217Val			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.G217V	ENST00000377770.3	37	c.650		7	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351820	0.61183	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007	T;T;T	0.39406	1.08;1.08;1.08	5.38	4.49	0.54785	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.052472	0.85682	D	0.000000	T	0.53417	0.1795	L	0.41492	1.28	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.69654	0.941;0.965;0.965	T	0.56402	-0.7985	10	0.87932	D	0	-14.8104	12.9454	0.58369	0.0:0.3349:0.665:0.0	.	155;217;153	P42658-2;P42658;E9PF59	.;DPP6_HUMAN;.	V	153;217;155	ENSP00000385578:G153V;ENSP00000367001:G217V;ENSP00000328226:G155V	ENSP00000328226:G155V	G	+	2	0	DPP6	154060486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.713000	0.47194	1.242000	0.43836	0.655000	0.94253	GGA	DPP6	-	pfam_Peptidase_S9B	ENSG00000130226		0.368	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	-	0.00	35	0	G	NM_130797		154429553	+1	tier1	-	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	60.00	10	15	SNP	1.000	T
DSC3	1825	genome.wustl.edu	37	18	28586985	28586985	+	Silent	SNP	G	G	A	rs139705637		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr18:28586985G>A	ENST00000360428.4	-	12	1856	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	DSC3_ENST00000434452.1_Silent_p.T592T	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	592	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTAAAATGTCGGTATACCCCA	0.393																																																	0								G	,	0,4406		0,0,2203	137.0	126.0	130.0		1776,1776	-10.2	0.0	18	dbSNP_134	130	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	DSC3	NM_001941.3,NM_024423.2	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	592/897,592/840	28586985	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1776C>T	18.37:g.28586985G>A			A6NN35|Q14200|Q9HAZ9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.T592	ENST00000360428.4	37	c.1776	CCDS32810.1	18																																																																																			DSC3	-	superfamily_Cadherin-like	ENSG00000134762		0.393	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	HGNC	protein_coding	OTTHUMT00000447384.1	-	0.00	50	0	G	NM_001941, NM_024423		28586985	-1	tier1	rs139705637	no_errors	ENST00000360428	ensembl	human	known	74_37	silent	47.62	22	20	SNP	0.000	A
DST	667	genome.wustl.edu	37	6	56392430	56392430	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:56392430G>T	ENST00000361203.3	-	63	16830	c.16823C>A	c.(16822-16824)gCg>gAg	p.A5608E	DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A3631E|DST_ENST00000370754.5_Missense_Mutation_p.A5897E|DST_ENST00000370769.4_Missense_Mutation_p.A5719E|DST_ENST00000446842.2_Missense_Mutation_p.A5393E|DST_ENST00000244364.6_Missense_Mutation_p.A3305E|DST_ENST00000370788.2_Missense_Mutation_p.A3522E			Q03001	DYST_HUMAN	dystonin	5608					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGCTGCAGCGCCTGTTCCAG	0.448																																																	0													112.0	111.0	111.0					6																	56392430		1984	4178	6162	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16823C>A	6.37:g.56392430G>T	ENSP00000354508:p.Ala5608Glu		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A5897E	ENST00000361203.3	37	c.17690		6	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371250	0.42003	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.66280	0.84;1.11;1.11;-0.2;0.63;0.33;1.11	5.62	5.62	0.85841	.	0.000000	0.51477	D	0.000087	T	0.79701	0.4491	M	0.85299	2.745	0.34252	D	0.678928	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79784	0.977;0.989;0.993;0.945;0.92	T	0.81422	-0.0940	9	0.59425	D	0.04	.	19.6632	0.95882	0.0:0.0:1.0:0.0	.	3631;5719;5897;5717;3305	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	E	3305;5897;5719;3631;5393;3522;5608	ENSP00000244364:A3305E;ENSP00000359790:A5897E;ENSP00000359805:A5719E;ENSP00000400883:A3631E;ENSP00000393645:A5393E;ENSP00000359824:A3522E;ENSP00000354508:A5608E	ENSP00000244364:A3305E	A	-	2	0	DST	56500389	1.000000	0.71417	0.819000	0.32651	0.110000	0.19582	3.371000	0.52379	2.625000	0.88918	0.655000	0.94253	GCG	DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0.00	46	0	G	NM_001723		56392430	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.997	T
E2F7	144455	genome.wustl.edu	37	12	77449703	77449703	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:77449703G>A	ENST00000322886.7	-	3	536	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	E2F7_ENST00000416496.2_Missense_Mutation_p.R101W	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	101					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTCTTCTCCCGGTCCCTTATA	0.458																																																	0													153.0	147.0	149.0					12																	77449703		2203	4300	6503	SO:0001583	missense	0			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.301C>T	12.37:g.77449703G>A	ENSP00000323246:p.Arg101Trp		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	pfam_E2F_TDP	p.R101W	ENST00000322886.7	37	c.301	CCDS9016.1	12	.	.	.	.	.	.	.	.	.	.	G	16.58	3.161784	0.57368	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669;ENST00000547316	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.9	5.01	0.66863	.	0.045370	0.85682	N	0.000000	T	0.81870	0.4914	M	0.79693	2.465	0.58432	D	0.999992	P;P	0.38788	0.63;0.647	B;B	0.29663	0.105;0.048	T	0.82707	-0.0324	10	0.87932	D	0	-11.362	7.9246	0.29867	0.0773:0.0:0.6765:0.2462	.	101;101	F8VSE7;Q96AV8	.;E2F7_HUMAN	W	101	ENSP00000323246:R101W;ENSP00000393639:R101W;ENSP00000448245:R101W;ENSP00000449033:R101W	ENSP00000323246:R101W	R	-	1	2	E2F7	75973834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.724000	0.25954	1.496000	0.48567	0.650000	0.86243	CGG	E2F7	-	NULL	ENSG00000165891		0.458	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1	-	0.00	101	0	G	XM_084871		77449703	-1	tier1	-	no_errors	ENST00000322886	ensembl	human	known	74_37	missense	36.76	43	25	SNP	1.000	A
ELP3	55140	genome.wustl.edu	37	8	28017783	28017783	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:28017783G>T	ENST00000256398.8	+	13	1672	c.1295G>T	c.(1294-1296)gGc>gTc	p.G432V	ELP3_ENST00000542181.1_Missense_Mutation_p.G303V|ELP3_ENST00000521015.1_Missense_Mutation_p.G418V|ELP3_ENST00000524103.1_Missense_Mutation_p.G360V|ELP3_ENST00000537665.1_Missense_Mutation_p.G313V|ELP3_ENST00000380353.4_Missense_Mutation_p.G340V	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	432	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|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)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GCAAATGGTGGCTGGGAAACA	0.343																																																	0													127.0	121.0	123.0					8																	28017783		2203	4300	6503	SO:0001583	missense	0				CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1295G>T	8.37:g.28017783G>T	ENSP00000256398:p.Gly432Val		B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3	p.G432V	ENST00000256398.8	37	c.1295	CCDS6065.1	8	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209511	0.79240	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353;ENST00000523357;ENST00000517975	.	.	.	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.049229	0.85682	D	0.000000	D	0.87160	0.6108	H	0.96720	3.87	0.80722	D	1	D;D	0.63880	0.993;0.975	D;P	0.70016	0.967;0.882	D	0.91017	0.4854	9	0.87932	D	0	-12.7749	14.5188	0.67838	0.0:0.0:1.0:0.0	.	313;432	B4DE19;Q9H9T3	.;ELP3_HUMAN	V	418;432;303;360;313;340;31;25	.	ENSP00000256398:G432V	G	+	2	0	ELP3	28073702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.543000	0.85770	0.655000	0.94253	GGC	ELP3	-	superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3	ENSG00000134014		0.343	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP3	HGNC	protein_coding	OTTHUMT00000219963.2	-	0.00	34	0	G	NM_018091		28017783	+1	tier1	-	no_errors	ENST00000256398	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
ENAH	55740	genome.wustl.edu	37	1	225685496	225685496	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:225685496C>T	ENST00000366844.3	-	15	2208	c.1757G>A	c.(1756-1758)aGc>aAc	p.S586N	ENAH_ENST00000284563.6_Missense_Mutation_p.S812N|ENAH_ENST00000366843.2_Missense_Mutation_p.S565N	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	586	EVH2 block C.|EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ATTTGACTTGCTCAGTTCCTG	0.343																																																	0													100.0	91.0	94.0					1																	225685496		2203	4300	6503	SO:0001583	missense	0			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1757G>A	1.37:g.225685496C>T	ENSP00000355809:p.Ser586Asn		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.S586N	ENST00000366844.3	37	c.1757	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924285	0.52653	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.77098	-0.02;-0.05;-1.07	5.24	5.24	0.73138	VASP tetramerisation (1);	0.111717	0.64402	D	0.000009	T	0.63117	0.2484	N	0.03154	-0.405	0.32004	N	0.60299	P;B	0.36010	0.532;0.256	B;B	0.44224	0.259;0.444	T	0.68296	-0.5446	10	0.27082	T	0.32	-14.125	13.5061	0.61485	0.0:0.9246:0.0:0.0753	.	565;586	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	N	586;565;812;527	ENSP00000355809:S586N;ENSP00000355808:S565N;ENSP00000284563:S812N	ENSP00000284563:S812N	S	-	2	0	ENAH	223752119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.041000	0.30291	2.602000	0.87976	0.585000	0.79938	AGC	ENAH	-	pfam_VASP_tetra	ENSG00000154380		0.343	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	-	0.00	73	0	C	NM_018212		225685496	-1	tier1	-	no_errors	ENST00000366844	ensembl	human	known	74_37	missense	44.78	37	30	SNP	1.000	T
SNORA11	677799	genome.wustl.edu	37	14	70270921	70270922	+	RNA	INS	-	-	T	rs566317626|rs200703304		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:70270921_70270922insT	ENST00000408133.1	-	0	126_127									small nucleolar RNA, H/ACA box 11																		CATGGATTCTCTTTTTTTTTTT	0.351																																																	0																																												0			AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270932_70270932dupT				RNA	INS	-	NULL	ENST00000408133.1	37	NULL		14																																																																																			SNORA11	-	-	ENSG00000221060		0.351	SNORA11.1-201	NOVEL	basic	snoRNA	ENSG00000221060	RFAM	snoRNA			0.00	15	0	-	NR_002953		70270922	-1	tier1		no_errors	ENST00000408133	ensembl	human	novel	74_37	rna	11.54	23	3	INS	0.001:0.003	T
RP11-327I22.5	0	genome.wustl.edu	37	9	43151948	43151948	+	lincRNA	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:43151948G>A	ENST00000447613.1	-	0	205																											CCAAAGAAGCGGAAGAGCATT	0.373																																																	0																																												0																															9.37:g.43151948G>A				RNA	SNP	-	NULL	ENST00000447613.1	37	NULL		9																																																																																			RP11-327I22.5	-	-	ENSG00000224303		0.373	RP11-327I22.5-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000224303	Clone_based_vega_gene	lincRNA	OTTHUMT00000037044.1	-	0.00	37	0	G			43151948	-1	tier1	-	no_errors	ENST00000447613	ensembl	human	known	74_37	rna	61.76	13	21	SNP	0.005	A
RP11-782C8.2	0	genome.wustl.edu	37	1	143196679	143196679	+	lincRNA	SNP	A	A	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:143196679A>C	ENST00000412204.2	-	0	1915				RP11-782C8.1_ENST00000438000.1_lincRNA																							ATCCTCCTCAAGTTTTTCACA	0.294																																																	0																																												0																															1.37:g.143196679A>C				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			RP11-782C8.2	-	-	ENSG00000232274		0.294	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	-	0.00	129	0	A			143196679	-1	tier1	-	no_errors	ENST00000412204	ensembl	human	known	74_37	rna	35.71	61	35	SNP	0.970	C
THBS3	7059	genome.wustl.edu	37	1	155168105	155168105	+	Intron	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:155168105C>T	ENST00000368378.3	-	17	2095				RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_Intron|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541576.1_Intron	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3						bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GACATCTTTCCCCACCTTGCC	0.587																																																	0																																										SO:0001627	intron_variant	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2074+94G>A	1.37:g.155168105C>T			B1AVR8|B4DQ20|Q8WV34	RNA	SNP	-	NULL	ENST00000368378.3	37	NULL	CCDS1099.1	1																																																																																			RP11-263K19.4	-	-	ENSG00000231064		0.587	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000231064	Clone_based_vega_gene	protein_coding	OTTHUMT00000086856.1	-	0.00	13	0	C	NM_007112		155168105	+1	tier1	-	no_errors	ENST00000454348	ensembl	human	known	74_37	rna	25.00	18	6	SNP	0.000	T
BHMG1	388553	genome.wustl.edu	37	19	46256971	46256971	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:46256971T>C	ENST00000457052.2	+	6	897	c.481T>C	c.(481-483)Tcc>Ccc	p.S161P																								CCCCTCCAGCTCCCCAAGCTC	0.622																																																	0																																										SO:0001583	missense	0																														ENST00000457052.2:c.481T>C	19.37:g.46256971T>C	ENSP00000402674:p.Ser161Pro			Missense_Mutation	SNP	pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom	p.S161P	ENST00000457052.2	37	c.481		19	.	.	.	.	.	.	.	.	.	.	.	13.22	2.172711	0.38413	.	.	ENSG00000237452	ENST00000457052	D	0.97941	-4.62	4.94	3.92	0.45320	.	.	.	.	.	D	0.97256	0.9103	.	.	.	.	.	.	.	.	.	.	.	.	D	0.99360	1.0917	5	0.87932	D	0	.	7.9949	0.30263	0.1807:0.0:0.0:0.8193	.	.	.	.	P	161	ENSP00000402674:S161P	ENSP00000402674:S161P	S	+	1	0	AC074212.3	50948811	0.829000	0.29322	0.998000	0.56505	0.570000	0.35934	0.582000	0.23834	0.892000	0.36259	0.459000	0.35465	TCC	AC074212.3	-	NULL	ENSG00000237452		0.622	AC074212.3-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000237452	Clone_based_vega_gene	protein_coding	OTTHUMT00000343318.3	-	0.00	37	0	T			46256971	+1	tier1	-	no_errors	ENST00000457052	ensembl	human	putative	74_37	missense	8.33	44	4	SNP	0.998	C
RP11-848P1.9	0	genome.wustl.edu	37	17	29349101	29349101	+	RNA	SNP	G	G	A	rs371187200		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:29349101G>A	ENST00000579692.1	+	0	481																		p.?(1)									atatatatatgtgtgtgtgtg	0.343																																																	1	Unknown(1)	central_nervous_system(1)																																										0																															17.37:g.29349101G>A				RNA	SNP	-	NULL	ENST00000579692.1	37	NULL		17																																																																																			RP11-848P1.9	-	-	ENSG00000266865		0.343	RP11-848P1.9-003	KNOWN	basic	processed_transcript	ENSG00000266865	Clone_based_vega_gene	pseudogene	OTTHUMT00000445165.1	-	0.00	31	0	G			29349101	+1	tier1	-	no_errors	ENST00000579692	ensembl	human	known	74_37	rna	12.28	50	7	SNP	0.004	A
UCKL1	54963	genome.wustl.edu	37	20	62585480	62585480	+	Intron	SNP	T	T	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:62585480T>G	ENST00000354216.6	-	1	156				UCKL1_ENST00000358711.3_Intron|AL118506.1_ENST00000595604.1_Silent_p.L158L|UCKL1_ENST00000369892.3_Intron	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1						CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TAGGGCTGCTTTCTCAGGCTG	0.642																																																	0																																										SO:0001627	intron_variant	0			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.113+2132A>C	20.37:g.62585480T>G			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	NULL	p.L158	ENST00000354216.6	37	c.474	CCDS13547.1	20																																																																																			AL118506.1	-	NULL	ENSG00000267848		0.642	UCKL1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000267848	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000080236.1	-	0.00	20	0	T	NM_017859		62585480	+1	tier1	-	no_errors	ENST00000595604	ensembl	human	known	74_37	silent	38.30	29	18	SNP	0.003	G
ELMOD1	55531	genome.wustl.edu	37	11	107463178	107463178	+	Intron	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:107463178G>A	ENST00000265840.7	+	1	180				ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000531234.1_Intron|ELMOD1_ENST00000529675.1_3'UTR|AP000889.3_ENST00000600612.1_Missense_Mutation_p.V126M	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TTTTGTGCCGGTGGCTTGACA	0.423																																																	0													107.0	107.0	107.0					11																	107463178		2000	4150	6150	SO:0001627	intron_variant	0			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.-86+1043G>A	11.37:g.107463178G>A			B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	NULL	p.V126M	ENST00000265840.7	37	c.376	CCDS44723.1	11																																																																																			AP000889.3	-	NULL	ENSG00000268467		0.423	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000268467	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000389406.1	-	0.00	57	0	G	NM_018712		107463178	+1	tier1	-	no_errors	ENST00000600612	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.017	A
TTN	7273	genome.wustl.edu	37	2	179442293	179442293	+	Intron	DEL	A	A	-	rs148238009	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:179442293delA	ENST00000591111.1	-	273	64126				RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Intron|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			AATTTGCTTTAAAAAAAAAAG	0.348													|||unknown(HR)	340	0.0678914	0.0635	0.0634	5008	,	,		20948	0.006		0.1054	False		,,,				2504	0.1022																0									,,,	70,290,3140		1,3,65,18,251,1412	46.0	40.0	42.0		,,,	5.0	0.4	2	dbSNP_134	46	11,929,6856		0,1,10,59,810,3018	no	intron,intron,intron,intron	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	,,,	1,4,75,77,1061,4430	A1A1,A1A2,A1R,A2A2,A2R,RR		12.0575,10.2857,11.5085	,,,	,,,	179442293	81,1219,9996	1802	4062	5864	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63901+35T>-	2.37:g.179442293delA			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	RNA	DEL	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			RP11-171I2.5	-	-	ENSG00000271011		0.348	TTN-019	PUTATIVE	basic	protein_coding	ENSG00000271011	Clone_based_vega_gene	protein_coding	OTTHUMT00000460310.1		0.00	30	0	A	NM_133378		179442293	+1	tier1		no_errors	ENST00000604215	ensembl	human	known	74_37	rna	12.00	22	3	DEL	0.038	-
TTN	7273	genome.wustl.edu	37	2	179444598	179444598	+	Intron	SNP	A	A	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:179444598A>C	ENST00000591111.1	-	269	62650				RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Intron|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			AGAAATGATAAGTGTAAGCCC	0.433																																																	0													105.0	99.0	101.0					2																	179444598		1879	4103	5982	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62426-23T>G	2.37:g.179444598A>C			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	RNA	SNP	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			RP11-171I2.2	-	-	ENSG00000270574		0.433	TTN-019	PUTATIVE	basic	protein_coding	ENSG00000270574	Clone_based_vega_gene	protein_coding	OTTHUMT00000460310.1	-	0.00	16	0	A	NM_133378		179444598	+1	tier1	-	no_errors	ENST00000603521	ensembl	human	known	74_37	rna	50.00	4	4	SNP	0.020	C
ENTPD3	956	genome.wustl.edu	37	3	40466257	40466257	+	Intron	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:40466257G>A	ENST00000301825.3	+	10	1471				ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Intron|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Splice_Site|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3						nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TCTCATTTCAGGAATAGCTGA	0.428																																																	0																																										SO:0001627	intron_variant	0			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.1353+803G>A	3.37:g.40466257G>A			B2R8D0|G5E9N0|O60495|Q8N6K2	Splice_Site	SNP	-	e10-1	ENST00000301825.3	37	c.1354-1	CCDS2691.1	3	.	.	.	.	.	.	.	.	.	.	G	6.771	0.511260	0.12883	.	.	ENSG00000168032	ENST00000445129	.	.	.	4.15	0.967	0.19674	.	.	.	.	.	.	.	.	.	.	.	0.29849	N	0.828576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8213	0.18528	0.4066:0.0:0.5934:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENTPD3	40441261	0.239000	0.23836	0.095000	0.20976	0.469000	0.32828	0.652000	0.24888	0.168000	0.19655	0.561000	0.74099	.	ENTPD3	-	-	ENSG00000168032		0.428	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD3	HGNC	protein_coding	OTTHUMT00000254179.2	-	0.00	34	0	G	NM_001248		40466257	+1	tier1	-	no_errors	ENST00000445129	ensembl	human	novel	74_37	splice_site	18.18	27	6	SNP	0.163	A
ERBB2	2064	genome.wustl.edu	37	17	37866342	37866342	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:37866342C>T	ENST00000269571.5	+	6	806	c.647C>T	c.(646-648)aCg>aTg	p.T216M	ERBB2_ENST00000540147.1_Missense_Mutation_p.T186M|ERBB2_ENST00000406381.2_Missense_Mutation_p.T186M|ERBB2_ENST00000540042.1_Missense_Mutation_p.T186M|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Missense_Mutation_p.T201M|ERBB2_ENST00000584601.1_Missense_Mutation_p.T186M|ERBB2_ENST00000578199.1_Missense_Mutation_p.T186M|ERBB2_ENST00000584450.1_Missense_Mutation_p.T216M			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	216					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCAACAGTGACGCGCACTGTC	0.662		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													59.0	60.0	60.0					17																	37866342		2203	4299	6502	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.647C>T	17.37:g.37866342C>T	ENSP00000269571:p.Thr216Met		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T216M	ENST00000269571.5	37	c.647	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926278	0.34002	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.62	5.62	0.85841	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	D	0.83124	0.5186	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85972	0.1477	9	0.87932	D	0	.	18.4263	0.90610	0.0:1.0:0.0:0.0	.	186;201;216;216	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	M	186;201;216;186;186	ENSP00000385185:T186M;ENSP00000446466:T201M;ENSP00000269571:T216M;ENSP00000443562:T186M;ENSP00000446382:T186M	ENSP00000269571:T216M	T	+	2	0	ERBB2	35119868	1.000000	0.71417	0.958000	0.39756	0.227000	0.25037	7.509000	0.81698	2.648000	0.89879	0.467000	0.42956	ACG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	ENSG00000141736		0.662	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2		0.00	31	0	C			37866342	+1			no_errors	ENST00000269571	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	T
ESRRG	2104	genome.wustl.edu	37	1	216692714	216692714	+	Silent	SNP	A	A	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:216692714A>T	ENST00000408911.3	-	6	1065	c.912T>A	c.(910-912)gcT>gcA	p.A304A	ESRRG_ENST00000359162.2_Silent_p.A281A|ESRRG_ENST00000366938.2_Silent_p.A281A|ESRRG_ENST00000487276.1_Silent_p.A281A|ESRRG_ENST00000463665.1_Silent_p.A242A|ESRRG_ENST00000493603.1_Silent_p.A281A|ESRRG_ENST00000493748.1_Silent_p.A281A|ESRRG_ENST00000366937.1_Silent_p.A316A|ESRRG_ENST00000361395.2_Silent_p.A281A|ESRRG_ENST00000366940.2_Silent_p.A281A|ESRRG_ENST00000361525.3_Silent_p.A281A|ESRRG_ENST00000391890.3_Silent_p.A288A|ESRRG_ENST00000360012.3_Silent_p.A281A	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	304					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTTCCATCCAAGCACTCTGCA	0.453																																																	0													69.0	69.0	69.0					1																	216692714		2203	4300	6503	SO:0001819	synonymous_variant	0			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.912T>A	1.37:g.216692714A>T			A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.A304	ENST00000408911.3	37	c.912	CCDS41468.1	1																																																																																			ESRRG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000196482		0.453	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2		0.00	35	0	A	NM_206595		216692714	-1			no_errors	ENST00000408911	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.978	T
EYS	346007	genome.wustl.edu	37	6	66012712	66012712	+	Intron	SNP	A	A	C	rs553375748		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:66012712A>C	ENST00000370621.3	-	12	2293				EYS_ENST00000503581.1_Intron|EYS_ENST00000370616.2_Intron			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						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						TCCGAGCAAAAGTGTGTTGCC	0.458																																																	0																																										SO:0001627	intron_variant	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.1767-6700T>G	6.37:g.66012712A>C			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	RNA	SNP	-	NULL	ENST00000370621.3	37	NULL		6																																																																																			EYS	-	-	ENSG00000188107		0.458	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	28	0	A	XM_294050		66012712	-1	tier1	-	no_errors	ENST00000370615	ensembl	human	putative	74_37	rna	44.74	21	17	SNP	0.997	C
FASTKD3	79072	genome.wustl.edu	37	5	7867768	7867768	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:7867768C>T	ENST00000264669.5	-	2	565	c.429G>A	c.(427-429)aaG>aaA	p.K143K	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	143					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GATCACCATCCTTTTTTTCCA	0.418																																																	0													67.0	62.0	64.0					5																	7867768		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.429G>A	5.37:g.7867768C>T			Q9BVD3	Silent	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.K143	ENST00000264669.5	37	c.429	CCDS3873.1	5																																																																																			FASTKD3	-	NULL	ENSG00000124279		0.418	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	HGNC	protein_coding	OTTHUMT00000253673.1	-	0.00	23	0	C	NM_024091		7867768	-1	tier1	-	no_errors	ENST00000264669	ensembl	human	known	74_37	silent	60.00	8	12	SNP	0.000	T
FBLN2	2199	genome.wustl.edu	37	3	13670520	13670520	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:13670520C>T	ENST00000295760.7	+	11	2613	c.2544C>T	c.(2542-2544)caC>caT	p.H848H	FBLN2_ENST00000535798.1_Silent_p.H874H|FBLN2_ENST00000404922.3_Silent_p.H895H|FBLN2_ENST00000492059.1_Silent_p.H895H	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	848	EGF-like 5; calcium-binding. {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)			GCGGCTACCACGCCAGCGATG	0.677																																																	0													33.0	40.0	37.0					3																	13670520		2165	4269	6434	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.2544C>T	3.37:g.13670520C>T			B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.H895	ENST00000295760.7	37	c.2685	CCDS46762.1	3																																																																																			FBLN2	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000163520		0.677	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	-	0.00	79	0	C	NM_001004019		13670520	+1	tier1	-	no_errors	ENST00000404922	ensembl	human	known	74_37	silent	23.46	62	19	SNP	0.593	T
FHOD3	80206	genome.wustl.edu	37	18	34232557	34232557	+	Intron	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr18:34232557G>T	ENST00000359247.4	+	11	1196				FHOD3_ENST00000257209.4_Intron|FHOD3_ENST00000590592.1_Missense_Mutation_p.Q437H|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3						actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				cctcagggcagagccccactg	0.587																																																	0																																										SO:0001627	intron_variant	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1197-5481G>T	18.37:g.34232557G>T			A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.Q437H	ENST00000359247.4	37	c.1311		18																																																																																			FHOD3	-	NULL	ENSG00000134775		0.587	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	-	0.00	15	0	G	XM_371114		34232557	+1	tier1	-	no_errors	ENST00000590592	ensembl	human	putative	74_37	missense	26.32	14	5	SNP	0.056	T
FLOT2	2319	genome.wustl.edu	37	17	27207851	27207851	+	Silent	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:27207851G>T	ENST00000394908.4	-	10	1232	c.1128C>A	c.(1126-1128)acC>acA	p.T376T	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394906.2_Silent_p.T431T|FLOT2_ENST00000585169.1_Silent_p.T376T	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	376					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CATCGACCTTGGTAAGTGGGG	0.567																																																	0													126.0	130.0	128.0					17																	27207851		2185	4280	6465	SO:0001819	synonymous_variant	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.1128C>A	17.37:g.27207851G>T				Silent	SNP	pfam_Band_7,smart_Band_7	p.T376	ENST00000394908.4	37	c.1128	CCDS11245.2	17																																																																																			FLOT2	-	NULL	ENSG00000132589		0.567	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	-	0.00	41	0	G	NM_004475		27207851	-1	tier1	-	no_errors	ENST00000394908	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	T
FLVCR1	28982	genome.wustl.edu	37	1	213068654	213068654	+	3'UTR	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:213068654C>T	ENST00000366971.4	+	0	1888				FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1						blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		AAGTTACTGTCCTGTAGTAAT	0.433																																					Esophageal Squamous(199;2235 2952 19233 26256)												0													92.0	85.0	87.0					1																	213068654		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.*22C>T	1.37:g.213068654C>T			Q1HE16|Q86XY9|Q9NVR9	RNA	SNP	-	NULL	ENST00000366971.4	37	NULL	CCDS1510.1	1																																																																																			FLVCR1	-	-	ENSG00000162769		0.433	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR1	HGNC	protein_coding	OTTHUMT00000089678.2	-	0.00	26	0	C	NM_014053		213068654	+1	tier1	-	no_errors	ENST00000483790	ensembl	human	known	74_37	rna	28.57	30	12	SNP	0.000	T
FUT4	2526	genome.wustl.edu	37	11	94278596	94278596	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:94278596G>A	ENST00000358752.2	+	1	1580	c.1297G>A	c.(1297-1299)Gct>Act	p.A433T	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	433					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.A433T(1)		central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCGTTGCTCGCTGGGGCGGT	0.632																																																	1	Substitution - Missense(1)	endometrium(1)											40.0	38.0	39.0					11																	94278596		2200	4297	6497	SO:0001583	missense	0				CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.1297G>A	11.37:g.94278596G>A	ENSP00000351602:p.Ala433Thr		B2RMS0	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.A433T	ENST00000358752.2	37	c.1297	CCDS8301.1	11	.	.	.	.	.	.	.	.	.	.	g	17.50	3.405008	0.62288	.	.	ENSG00000196371	ENST00000358752	T	0.30448	1.53	4.93	2.05	0.26809	.	0.071348	0.56097	U	0.000033	T	0.46600	0.1401	M	0.73372	2.23	0.22468	N	0.999077	D	0.89917	1.0	D	0.79108	0.992	T	0.28522	-1.0041	10	0.62326	D	0.03	.	4.5774	0.12241	0.2171:0.0:0.5268:0.2562	.	433	P22083	FUT4_HUMAN	T	433	ENSP00000351602:A433T	ENSP00000351602:A433T	A	+	1	0	FUT4	93918244	0.880000	0.30214	0.058000	0.19502	0.560000	0.35617	1.534000	0.36051	0.234000	0.21139	-0.258000	0.10820	GCT	FUT4	-	pfam_Glyco_trans_10	ENSG00000196371		0.632	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT4	HGNC	protein_coding	OTTHUMT00000396327.2		0.00	61	0	G	NM_002033		94278596	+1			no_errors	ENST00000358752	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.338	A
GABRA6	2559	genome.wustl.edu	37	5	161128572	161128572	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:161128572C>T	ENST00000274545.5	+	9	1588	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	GABRA6_ENST00000523217.1_Silent_p.S375S			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	385					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S385S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCATCTTCCGAGGCCAATA	0.453										TCGA Ovarian(5;0.080)																																							1	Substitution - coding silent(1)	large_intestine(1)											104.0	104.0	104.0					5																	161128572		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1155C>T	5.37:g.161128572C>T			A8K096|Q4VAV2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.S385	ENST00000274545.5	37	c.1155	CCDS4356.1	5																																																																																			GABRA6	-	superfamily_Neurotrans-gated_channel_TM,prints_GABBAa6_rcpt	ENSG00000145863		0.453	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	-	0.00	18	0	C			161128572	+1	tier1	-	no_errors	ENST00000274545	ensembl	human	known	74_37	silent	56.25	7	9	SNP	0.837	T
GALNT13	114805	genome.wustl.edu	37	2	155158056	155158056	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:155158056A>C	ENST00000392825.3	+	9	1677	c.1110A>C	c.(1108-1110)gaA>gaC	p.E370D	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.E370D	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	370					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GACTGGCAGAAGTTTGGATGG	0.393																																																	0													182.0	181.0	181.0					2																	155158056		2203	4300	6503	SO:0001583	missense	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1110A>C	2.37:g.155158056A>C	ENSP00000376570:p.Glu370Asp		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E370D	ENST00000392825.3	37	c.1110	CCDS2199.1	2	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763443	0.69763	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.70986	-0.53;-0.53	5.44	4.29	0.51040	.	0.047372	0.85682	D	0.000000	T	0.71264	0.3319	M	0.85099	2.735	0.80722	D	1	B;B;B;B	0.34290	0.263;0.301;0.447;0.301	B;B;B;B	0.34242	0.172;0.083;0.178;0.083	T	0.72418	-0.4300	10	0.72032	D	0.01	.	8.302	0.32019	0.8302:0.0:0.1698:0.0	.	370;370;370;370	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	D	370	ENSP00000376570:E370D;ENSP00000387239:E370D	ENSP00000376570:E370D	E	+	3	2	GALNT13	154866302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.663000	0.37429	1.012000	0.39366	0.533000	0.62120	GAA	GALNT13	-	NULL	ENSG00000144278		0.393	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	-	0.00	35	0	A	NM_052917		155158056	+1	tier1	-	no_errors	ENST00000409237	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	C
RASL10A	10633	genome.wustl.edu	37	22	29708357	29708357	+	IGR	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr22:29708357G>A	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407647.2_3'UTR|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000406549.3_Silent_p.Q412Q	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						TGGACACACAGCCAGACCGTA	0.701																																																	0													41.0	49.0	46.0					22																	29708357		1990	4154	6144	SO:0001628	intergenic_variant	0			Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708357G>A			Q49AU5|Q6PI03	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.Q412	ENST00000216101.6	37	c.1236	CCDS13854.1	22																																																																																			GAS2L1	-	NULL	ENSG00000185340		0.701	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L1	HGNC	protein_coding	OTTHUMT00000321342.1	-	0.00	49	0	G			29708357	+1	tier1	-	no_errors	ENST00000406549	ensembl	human	putative	74_37	silent	10.26	35	4	SNP	0.998	A
GAS2L2	246176	genome.wustl.edu	37	17	34077291	34077291	+	Silent	SNP	C	C	T	rs138124177		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:34077291C>T	ENST00000254466.6	-	2	459	c.432G>A	c.(430-432)gtG>gtA	p.V144V	GAS2L2_ENST00000587565.1_Silent_p.V144V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	144	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACGTTCTTCACGTTCTTGC	0.647																																																	0													136.0	142.0	140.0					17																	34077291		2203	4300	6503	SO:0001819	synonymous_variant	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.432G>A	17.37:g.34077291C>T			Q8NHY4	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.V144	ENST00000254466.6	37	c.432	CCDS11298.1	17																																																																																			GAS2L2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000132139		0.647	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	-	0.00	60	0	C	NM_139285		34077291	-1	tier1	-	no_errors	ENST00000254466	ensembl	human	known	74_37	silent	44.12	38	30	SNP	1.000	T
MTX1	4580	genome.wustl.edu	37	1	155184057	155184057	+	IGR	SNP	G	G	A	rs114312440	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:155184057G>A	ENST00000368376.3	+	0	1632				GBAP1_ENST00000486869.1_RNA|RP11-263K19.6_ENST00000455788.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTAAGCTCACGCTGGCCCTGT	0.572													G|||	1875	0.374401	0.1286	0.5259	5008	,	,		17617	0.6806		0.3012	False		,,,				2504	0.3589																0																																										SO:0001628	intergenic_variant	0				CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708		1.37:g.155184057G>A			B1AVR9|B1AVS0|B2R9P4|Q9BUU3	RNA	SNP	-	NULL	ENST00000368376.3	37	NULL	CCDS1100.1	1																																																																																			GBAP1	-	-	ENSG00000160766		0.572	MTX1-001	KNOWN	basic|CCDS	protein_coding	GBAP1	HGNC	protein_coding	OTTHUMT00000086844.1	-	0.00	8	0	G	NM_198883		155184057	-1	tier1	rs114312440	no_errors	ENST00000368374	ensembl	human	known	74_37	rna	53.85	6	7	SNP	0.011	A
GDPD4	220032	genome.wustl.edu	37	11	76980100	76980100	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:76980100C>T	ENST00000376217.2	-	8	743	c.493G>A	c.(493-495)Gtt>Att	p.V165I	GDPD4_ENST00000315938.4_Missense_Mutation_p.V165I|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	165					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GGTAATCCAACAGGCACTTGT	0.448																																																	0													57.0	56.0	56.0					11																	76980100		2200	4292	6492	SO:0001583	missense	0			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.493G>A	11.37:g.76980100C>T	ENSP00000365390:p.Val165Ile		Q7Z5B0	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.V165I	ENST00000376217.2	37	c.493		11	.	.	.	.	.	.	.	.	.	.	C	0.480	-0.880401	0.02530	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.13196	2.61;2.61	5.07	-3.68	0.04463	.	1.041100	0.07532	N	0.912367	T	0.03695	0.0105	N	0.01277	-0.915	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.44892	-0.9298	10	0.02654	T	1	-1.57	10.8111	0.46547	0.0:0.3506:0.0:0.6494	.	165	Q6W3E5-2	.	I	165	ENSP00000365390:V165I;ENSP00000320815:V165I	ENSP00000320815:V165I	V	-	1	0	GDPD4	76657748	0.003000	0.15002	0.114000	0.21550	0.923000	0.55619	-0.551000	0.06027	-0.629000	0.05575	-0.140000	0.14226	GTT	GDPD4	-	NULL	ENSG00000178795		0.448	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1	-	0.00	26	0	C	NM_182833		76980100	-1	tier1	-	no_errors	ENST00000376217	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.001	T
GFPT1	2673	genome.wustl.edu	37	2	69556817	69556817	+	Splice_Site	SNP	A	A	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:69556817A>T	ENST00000357308.4	-	16	1774	c.1596T>A	c.(1594-1596)ccT>ccA	p.P532P	GFPT1_ENST00000361060.5_Splice_Site_p.P514P	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	532	Isomerase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TCTTTGTACCAGGCAGCCGTT	0.408																																																	0													116.0	107.0	110.0					2																	69556817		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1597+1T>A	2.37:g.69556817A>T			Q53QE6|Q9BXF8	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.P532	ENST00000357308.4	37	c.1596	CCDS58713.1	2																																																																																			GFPT1	-	tigrfam_GlmS_trans	ENSG00000198380		0.408	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		-	0.00	39	0	A		Silent	69556817	-1	tier1	-	no_errors	ENST00000357308	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.996	T
GMIP	51291	genome.wustl.edu	37	19	19745736	19745736	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:19745736G>A	ENST00000203556.4	-	17	1889	c.1752C>T	c.(1750-1752)ggC>ggT	p.G584G	GMIP_ENST00000587238.1_Silent_p.G558G|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Silent_p.G555G	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	584	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCGGTAAATGCCCTGCAGGG	0.612																																																	0													54.0	59.0	57.0					19																	19745736		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1752C>T	19.37:g.19745736G>A			A0AVN9|B7ZLZ0	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.G584	ENST00000203556.4	37	c.1752	CCDS12408.1	19																																																																																			GMIP	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000089639		0.612	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	-	0.00	27	0	G	NM_016573		19745736	-1	tier1	-	no_errors	ENST00000203556	ensembl	human	known	74_37	silent	31.11	31	14	SNP	1.000	A
GOLGA2P5	55592	genome.wustl.edu	37	12	100551427	100551427	+	RNA	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:100551427G>T	ENST00000397112.4	-	0	1771				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CAACAGATGAGCCAGGCGCTG	0.627																																																	0													32.0	35.0	34.0					12																	100551427		2203	4300	6503			0																															12.37:g.100551427G>T			Q9NSV2	RNA	SNP	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2B	-	-	ENSG00000238105		0.627	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000396439.2	-	0.00	61	0	G			100551427	-1	tier1	-	no_errors	ENST00000397112	ensembl	human	known	74_37	rna	26.67	33	12	SNP	0.000	T
GOLGB1	2804	genome.wustl.edu	37	3	121417605	121417605	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:121417605T>C	ENST00000340645.5	-	13	1875	c.1750A>G	c.(1750-1752)Agg>Ggg	p.R584G	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R589G	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	584					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R584G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCCTCAGCCCTTTTTCCCTGG	0.363																																																	1	Substitution - Missense(1)	prostate(1)											82.0	85.0	84.0					3																	121417605		2203	4300	6503	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1750A>G	3.37:g.121417605T>C	ENSP00000341848:p.Arg584Gly		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.R584G	ENST00000340645.5	37	c.1750	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	5.981	0.364872	0.11296	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.23348	2.49;2.49;1.91	5.43	4.25	0.50352	.	0.457306	0.22595	N	0.058022	T	0.25901	0.0631	L	0.57536	1.79	0.09310	N	1	P;P;P;P;B	0.39480	0.493;0.675;0.675;0.675;0.287	B;B;B;B;B	0.39379	0.079;0.298;0.154;0.154;0.053	T	0.09530	-1.0670	10	0.35671	T	0.21	.	9.7072	0.40222	0.0:0.0:0.339:0.661	.	509;548;589;589;584	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	G	584;589;548;396	ENSP00000341848:R584G;ENSP00000377275:R589G;ENSP00000418231:R548G	ENSP00000341848:R584G	R	-	1	2	GOLGB1	122900295	0.528000	0.26314	0.695000	0.30226	0.589000	0.36550	1.134000	0.31442	1.033000	0.39918	0.533000	0.62120	AGG	GOLGB1	-	NULL	ENSG00000173230		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1		0.00	18	0	T	NM_004487		121417605	-1			no_errors	ENST00000340645	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.177	C
GPR50	9248	genome.wustl.edu	37	X	150348680	150348680	+	Missense_Mutation	SNP	G	G	A	rs367648979		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:150348680G>A	ENST00000218316.3	+	2	694	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	209					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTGCTACGTGAGGATCTG	0.512																																																	0													218.0	192.0	200.0					X																	150348680		2101	4218	6319	SO:0001583	missense	0			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.625G>A	X.37:g.150348680G>A	ENSP00000218316:p.Val209Met		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.V209M	ENST00000218316.3	37	c.625	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	g	2.969	-0.212868	0.06140	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.72394	-0.65	4.33	-8.66	0.00866	GPCR, rhodopsin-like superfamily (1);	1.010920	0.07923	N	0.976253	T	0.46600	0.1401	N	0.20766	0.605	0.09310	N	0.999997	B;B	0.30021	0.006;0.265	B;B	0.23419	0.01;0.046	T	0.39165	-0.9627	10	0.46703	T	0.11	2.3291	8.5245	0.33296	0.5253:0.3633:0.1114:0.0	.	162;209	F5H1S3;Q13585	.;MTR1L_HUMAN	M	162;209	ENSP00000218316:V209M	ENSP00000218316:V209M	V	+	1	0	GPR50	150099338	0.181000	0.23161	0.006000	0.13384	0.411000	0.31082	-0.092000	0.11129	-1.771000	0.01293	-2.301000	0.00260	GTG	GPR50	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000102195		0.512	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	-	0.00	15	0	G	NM_004224		150348680	+1	tier1	-	no_errors	ENST00000218316	ensembl	human	known	74_37	missense	82.35	3	14	SNP	0.638	A
GPSM1	26086	genome.wustl.edu	37	9	139243168	139243168	+	Silent	SNP	G	G	T	rs138778632	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:139243168G>T	ENST00000440944.1	+	10	1447	c.1227G>T	c.(1225-1227)acG>acT	p.T409T		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	409	Interaction with STK11/LKB1. {ECO:0000250}.|Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCAAGAGGACGCAGAGGCTGA	0.687																																																	0													46.0	44.0	44.0					9																	139243168		2198	4298	6496	SO:0001819	synonymous_variant	0			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1227G>T	9.37:g.139243168G>T			A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	pfam_GoLoco_motif,pfam_TPR_1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T409	ENST00000440944.1	37	c.1227	CCDS48055.1	9																																																																																			GPSM1	-	NULL	ENSG00000160360		0.687	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM1	HGNC	protein_coding		-	0.00	124	0	G	NM_015597		139243168	+1	tier1	-	no_errors	ENST00000440944	ensembl	human	known	74_37	silent	25.00	87	29	SNP	0.852	T
GRIK2	2898	genome.wustl.edu	37	6	102124642	102124642	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:102124642A>T	ENST00000421544.1	+	4	1176	c.686A>T	c.(685-687)gAt>gTt	p.D229V	GRIK2_ENST00000413795.1_Missense_Mutation_p.D229V|GRIK2_ENST00000358361.3_Missense_Mutation_p.D229V|GRIK2_ENST00000369138.1_Missense_Mutation_p.D229V|GRIK2_ENST00000369134.4_Missense_Mutation_p.D180V|GRIK2_ENST00000318991.6_Missense_Mutation_p.D229V|GRIK2_ENST00000369137.3_Missense_Mutation_p.D229V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	229					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.D229V(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTAATCTTTGATTGTAGCCAT	0.338																																																	2	Substitution - Missense(2)	lung(2)											75.0	78.0	77.0					6																	102124642		2203	4300	6503	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.686A>T	6.37:g.102124642A>T	ENSP00000397026:p.Asp229Val		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D229V	ENST00000421544.1	37	c.686	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448270	0.84101	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.107320	0.64402	D	0.000007	D	0.91057	0.7186	M	0.87682	2.9	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	D	0.92683	0.6160	10	0.87932	D	0	.	16.0977	0.81139	1.0:0.0:0.0:0.0	.	229;229;229	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	229;229;229;229;229;229;229;180;191	ENSP00000397026:D229V;ENSP00000405596:D229V;ENSP00000358134:D229V;ENSP00000351128:D229V;ENSP00000358133:D229V;ENSP00000313276:D229V;ENSP00000358130:D180V	ENSP00000313276:D229V	D	+	2	0	GRIK2	102231335	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.338000	0.96553	2.216000	0.71823	0.528000	0.53228	GAT	GRIK2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000164418		0.338	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1		0.00	39	0	A			102124642	+1			no_errors	ENST00000421544	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
GRIK5	2901	genome.wustl.edu	37	19	42567653	42567653	+	Intron	DEL	A	A	-			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:42567653delA	ENST00000262895.3	-	3	244				GRIK5_ENST00000301218.4_Intron|GRIK5_ENST00000593562.1_Intron	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5						cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				ggagtcacagaactccattct	0.507																																																	0																																										SO:0001627	intron_variant	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.245-646T>-	19.37:g.42567653delA			Q8WWG8	Frame_Shift_Del	DEL	NULL	p.F90fs	ENST00000262895.3	37	c.269	CCDS12595.1	19																																																																																			GRIK5	-	NULL	ENSG00000105737		0.507	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1		0.00	8	0	A			42567653	-1	tier1		no_errors	ENST00000594528	ensembl	human	known	74_37	frame_shift_del	75.00	2	6	DEL	0.013	-
GRIN2B	2904	genome.wustl.edu	37	12	13769494	13769494	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:13769494A>G	ENST00000609686.1	-	5	1432	c.1223T>C	c.(1222-1224)aTt>aCt	p.I408T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	408					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGGGTCACAATGCTCAGATG	0.527																																																	0													219.0	194.0	203.0					12																	13769494		2203	4300	6503	SO:0001583	missense	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1223T>C	12.37:g.13769494A>G	ENSP00000477455:p.Ile408Thr		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I408T	ENST00000609686.1	37	c.1223	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449865	0.84101	.	.	ENSG00000150086	ENST00000279593	T	0.07216	3.21	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07712	-1.0758	10	0.87932	D	0	.	15.6645	0.77217	1.0:0.0:0.0:0.0	.	408	Q13224	NMDE2_HUMAN	T	408	ENSP00000279593:I408T	ENSP00000279593:I408T	I	-	2	0	GRIN2B	13660761	1.000000	0.71417	0.984000	0.44739	0.955000	0.61496	9.334000	0.96470	2.086000	0.62901	0.460000	0.39030	ATT	GRIN2B	-	NULL	ENSG00000273079		0.527	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	-	0.00	55	0	A			13769494	-1	tier1	-	no_errors	ENST00000609686	ensembl	human	known	74_37	missense	44.19	24	19	SNP	1.000	G
GRM8	2918	genome.wustl.edu	37	7	126883137	126883137	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:126883137C>T	ENST00000339582.2	-	2	930	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	GRM8_ENST00000444921.2_Missense_Mutation_p.R41Q|GRM8_ENST00000358373.3_Missense_Mutation_p.R41Q|GRM8_ENST00000405249.1_Missense_Mutation_p.R41Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	41					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCCATCCACCCGTATGGAATG	0.527										HNSCC(24;0.065)																																							0													96.0	94.0	94.0					7																	126883137		2203	4300	6503	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.122G>A	7.37:g.126883137C>T	ENSP00000344173:p.Arg41Gln		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.R41Q	ENST00000339582.2	37	c.122	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133556	0.77662	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.82061	0.4955	L	0.55017	1.72	0.80722	D	1	D;P	0.71674	0.998;0.796	D;B	0.75484	0.986;0.139	T	0.78523	-0.2171	10	0.39692	T	0.17	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	41;41	O00222-2;O00222	.;GRM8_HUMAN	Q	41	ENSP00000344173:R41Q;ENSP00000409790:R41Q;ENSP00000351142:R41Q;ENSP00000385731:R41Q;ENSP00000415522:R41Q	ENSP00000344173:R41Q	R	-	2	0	GRM8	126670373	1.000000	0.71417	0.468000	0.27192	0.984000	0.73092	6.056000	0.71111	2.941000	0.99782	0.655000	0.94253	CGG	GRM8	-	superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_4	ENSG00000179603		0.527	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	-	0.00	41	0	C			126883137	-1	tier1	-	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.999	T
H2BFWT	158983	genome.wustl.edu	37	X	103268123	103268123	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:103268123G>T	ENST00000217926.5	-	1	136	c.110C>A	c.(109-111)aCc>aAc	p.T37N	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	37						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TTCCTCAGAGGTCGTCTCAGA	0.632																																																	0													72.0	56.0	61.0					X																	103268123		2203	4300	6503	SO:0001583	missense	0			BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.110C>A	X.37:g.103268123G>T	ENSP00000354723:p.Thr37Asn		B1AK72|Q147W3	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.T37N	ENST00000217926.5	37	c.110	CCDS35362.1	X	.	.	.	.	.	.	.	.	.	.	.	6.840	0.524207	0.13066	.	.	ENSG00000123569	ENST00000217926	T	0.21543	2.0	2.42	-3.52	0.04682	.	.	.	.	.	T	0.08403	0.0209	N	0.24115	0.695	0.09310	N	1	P	0.48407	0.91	B	0.36030	0.216	T	0.11372	-1.0590	9	0.41790	T	0.15	.	0.8215	0.01112	0.261:0.3387:0.2281:0.1722	.	37	Q7Z2G1	H2BWT_HUMAN	N	37	ENSP00000354723:T37N	ENSP00000354723:T37N	T	-	2	0	H2BFWT	103154779	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.145000	0.10265	-1.276000	0.02414	-0.238000	0.12139	ACC	H2BFWT	-	NULL	ENSG00000123569		0.632	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2BFWT	HGNC	protein_coding	OTTHUMT00000057756.2	-	0.00	56	0	G	NM_001002916		103268123	-1	tier1	-	no_errors	ENST00000217926	ensembl	human	known	74_37	missense	74.36	10	29	SNP	0.000	T
HEATR4	399671	genome.wustl.edu	37	14	73987652	73987652	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:73987652G>A	ENST00000553558.1	-	4	1294	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	HEATR4_ENST00000560393.1_Nonsense_Mutation_p.Q278*|RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Nonsense_Mutation_p.Q325*	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	325										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTTTGGGGCTGGGAGAGGCTC	0.502																																																	0													154.0	141.0	145.0					14																	73987652		2203	4300	6503	SO:0001587	stop_gained	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.973C>T	14.37:g.73987652G>A	ENSP00000450444:p.Gln325*		B7Z7V9|E9KL41	Nonsense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.Q325*	ENST00000553558.1	37	c.973	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	G	35	5.435735	0.96168	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	.	.	.	4.9	-1.16	0.09678	.	1.540280	0.03795	N	0.263419	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-0.0353	8.5695	0.33561	0.0:0.3898:0.3454:0.2648	.	.	.	.	X	325;278	.	ENSP00000335447:Q278X	Q	-	1	0	HEATR4	73057405	0.002000	0.14202	0.000000	0.03702	0.015000	0.08874	0.683000	0.25349	-0.088000	0.12506	0.655000	0.94253	CAG	HEATR4	-	NULL	ENSG00000187105		0.502	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	-	0.00	106	0	G	NM_203309		73987652	-1	tier1	-	no_errors	ENST00000334988	ensembl	human	known	74_37	nonsense	40.83	100	69	SNP	0.000	A
HGS	9146	genome.wustl.edu	37	17	79662869	79662869	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:79662869G>A	ENST00000329138.4	+	15	1368	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	411	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCCTGAAGGCGCTGCAGAACG	0.612																																																	0													84.0	65.0	72.0					17																	79662869		2203	4300	6503	SO:0001819	synonymous_variant	0			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1233G>A	17.37:g.79662869G>A			Q9NR36	Silent	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.A411	ENST00000329138.4	37	c.1233	CCDS11784.1	17																																																																																			HGS	-	pfam_HRS_helical,pirsf_Ubi-bd_Hrs_VPS27	ENSG00000185359		0.612	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	-	0.00	21	0	G	NM_004712		79662869	+1	tier1	-	no_errors	ENST00000329138	ensembl	human	known	74_37	silent	44.12	19	15	SNP	0.178	A
HIVEP2	3097	genome.wustl.edu	37	6	143074677	143074677	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:143074677C>T	ENST00000367604.1	-	9	7547	c.6908G>A	c.(6907-6909)cGg>cAg	p.R2303Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R2303Q|HIVEP2_ENST00000367603.2_Missense_Mutation_p.R2303Q|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2303					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CATCAACAGCCGAGGAGAGGA	0.512																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													91.0	93.0	92.0					6																	143074677		2009	4176	6185	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6908G>A	6.37:g.143074677C>T	ENSP00000356576:p.Arg2303Gln		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2303Q	ENST00000367604.1	37	c.6908	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	7.020	0.558507	0.13436	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02236	4.38;4.38;4.38	5.78	3.79	0.43588	.	0.450941	0.25987	N	0.027028	T	0.00754	0.0025	L	0.34521	1.04	0.25279	N	0.989453	B	0.33103	0.397	B	0.19391	0.025	T	0.48980	-0.8986	10	0.38643	T	0.18	-12.0397	12.4199	0.55514	0.6165:0.3835:0.0:0.0	.	2303	P31629	ZEP2_HUMAN	Q	2303	ENSP00000356576:R2303Q;ENSP00000356575:R2303Q;ENSP00000012134:R2303Q	ENSP00000012134:R2303Q	R	-	2	0	HIVEP2	143116370	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	3.486000	0.53215	1.387000	0.46486	0.655000	0.94253	CGG	HIVEP2	-	NULL	ENSG00000010818		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	-	0.00	14	0	C			143074677	-1	tier1	-	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.986	T
HNRNPA1P48	642659	genome.wustl.edu	37	16	51680593	51680593	+	RNA	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:51680593C>T	ENST00000562726.1	+	0	927					NR_002944.2|NR_003277.1				heterogeneous nuclear ribonucleoprotein A1 pseudogene 48																		CTCTGGCCCCCATGGCGGTGG	0.473																																																	0																																												0					16q12.1	2013-06-13			ENSG00000224578	ENSG00000224578			48778	pseudogene	pseudogene							Standard	NG_005530		Approved				OTTHUMG00000173250		16.37:g.51680593C>T				RNA	SNP	-	NULL	ENST00000562726.1	37	NULL		16																																																																																			HNRNPA1P48	-	-	ENSG00000224578		0.473	HNRNPA1P48-002	KNOWN	basic	processed_transcript	HNRNPA1P48	HGNC	pseudogene	OTTHUMT00000422613.1	-	0.00	25	0	C			51680593	+1	tier1	-	no_errors	ENST00000562726	ensembl	human	known	74_37	rna	15.79	32	6	SNP	0.831	T
HTRA2	27429	genome.wustl.edu	37	2	74757387	74757387	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:74757387C>T	ENST00000258080.3	+	1	884	c.254C>T	c.(253-255)gCg>gTg	p.A85V	HTRA2_ENST00000352222.3_Missense_Mutation_p.A85V|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	85					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CAACTGACTGCGGTGACCCCA	0.692																																																	0													11.0	14.0	13.0					2																	74757387		2189	4290	6479	SO:0001583	missense	0				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.254C>T	2.37:g.74757387C>T	ENSP00000258080:p.Ala85Val		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.A85V	ENST00000258080.3	37	c.254	CCDS1951.1	2	.	.	.	.	.	.	.	.	.	.	c	0.775	-0.764455	0.02996	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	T;T;T	0.16897	2.31;2.31;2.31	4.17	-2.82	0.05787	.	0.945574	0.08828	N	0.887735	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.002;0.003;0.003;0.002	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.39014	-0.9634	10	0.23302	T	0.38	-0.002	1.297	0.02071	0.2481:0.3378:0.2445:0.1697	.	85;85;85;85	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	V	85;85;72	ENSP00000258080:A85V;ENSP00000312893:A85V;ENSP00000399166:A72V	ENSP00000258080:A85V	A	+	2	0	HTRA2	74610895	0.000000	0.05858	0.000000	0.03702	0.214000	0.24535	-0.154000	0.10130	-0.357000	0.08175	-0.490000	0.04691	GCG	HTRA2	-	NULL	ENSG00000115317		0.692	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA2	HGNC	protein_coding	OTTHUMT00000252219.2		0.00	53	0	C	NM_013247		74757387	+1			no_errors	ENST00000258080	ensembl	human	known	74_37	missense	6.52	42	3	SNP	0.000	T
IFT74	80173	genome.wustl.edu	37	9	27060613	27060613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:27060613C>T	ENST00000443698.1	+	19	1819	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*	IFT74_ENST00000380062.5_Nonsense_Mutation_p.Q550*|IFT74_ENST00000433700.1_Nonsense_Mutation_p.Q550*	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	550					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GAGAAAGTGGCAACACCTTGA	0.353																																																	0													66.0	64.0	65.0					9																	27060613		1799	4070	5869	SO:0001587	stop_gained	0			AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1648C>T	9.37:g.27060613C>T	ENSP00000404122:p.Gln550*		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Nonsense_Mutation	SNP	NULL	p.Q550*	ENST00000443698.1	37	c.1648	CCDS43793.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.244334	0.97408	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-15.0052	19.1419	0.93449	0.0:1.0:0.0:0.0	.	.	.	.	X	550	.	ENSP00000369402:Q550X	Q	+	1	0	IFT74	27050613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.474000	0.73578	2.517000	0.84864	0.655000	0.94253	CAA	IFT74	-	NULL	ENSG00000096872		0.353	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT74	HGNC	protein_coding	OTTHUMT00000055476.2		0.00	57	0	C	NM_025103		27060613	+1			no_errors	ENST00000380062	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	1.000	T
IGF2BP1	10642	genome.wustl.edu	37	17	47075262	47075262	+	Missense_Mutation	SNP	A	A	T	rs200362453		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:47075262A>T	ENST00000290341.3	+	1	489	c.155A>T	c.(154-156)aAg>aTg	p.K52M	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.K52M|RP11-501C14.5_ENST00000505903.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	52	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGGCGATGAAGGCCATCGAA	0.587																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													91.0	93.0	92.0					17																	47075262		2203	4300	6503	SO:0001583	missense	0			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.155A>T	17.37:g.47075262A>T	ENSP00000290341:p.Lys52Met		C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.K52M	ENST00000290341.3	37	c.155	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	A	29.4	4.999600	0.93227	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.09350	2.99;2.99	4.87	3.78	0.43462	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	M	0.83603	2.65	0.30549	N	0.765681	D;D	0.89917	1.0;0.998	D;D	0.71870	0.975;0.964	T	0.24693	-1.0153	10	0.87932	D	0	-28.3794	9.8911	0.41290	0.9176:0.0:0.0824:0.0	.	52;52	C9JT33;Q9NZI8	.;IF2B1_HUMAN	M	52	ENSP00000290341:K52M;ENSP00000389135:K52M	ENSP00000290341:K52M	K	+	2	0	IGF2BP1	44430261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	1.934000	0.56057	0.528000	0.53228	AAG	IGF2BP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000159217		0.587	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1		0.00	35	0	A	NM_006546		47075262	+1			no_errors	ENST00000290341	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T
IL34	146433	genome.wustl.edu	37	16	70693596	70693596	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:70693596C>T	ENST00000288098.2	+	5	861	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	IL34_ENST00000429149.2_Missense_Mutation_p.R160W|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000566361.1_Missense_Mutation_p.R135W	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	160					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GAAGCTGGTGCGGCCCAAAGC	0.612																																																	0													56.0	50.0	52.0					16																	70693596		2198	4300	6498	SO:0001583	missense	0			BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.478C>T	16.37:g.70693596C>T	ENSP00000288098:p.Arg160Trp		B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	prints_IL-34	p.R160W	ENST00000288098.2	37	c.478	CCDS10895.1	16	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838405	0.71373	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.51817	0.69;0.69	5.08	2.83	0.33086	.	0.108239	0.36519	N	0.002557	T	0.65821	0.2728	M	0.76574	2.34	0.30579	N	0.762698	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.68918	-0.5282	10	0.87932	D	0	-19.226	12.4832	0.55856	0.3145:0.6855:0.0:0.0	.	159;160	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	W	160	ENSP00000397863:R160W;ENSP00000288098:R160W	ENSP00000288098:R160W	R	+	1	2	IL34	69251097	0.994000	0.37717	1.000000	0.80357	0.905000	0.53344	0.719000	0.25881	1.072000	0.40860	0.462000	0.41574	CGG	IL34	-	NULL	ENSG00000157368		0.612	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL34	HGNC	protein_coding	OTTHUMT00000268971.3	-	0.00	51	0	C	NM_152456		70693596	+1	tier1	-	no_errors	ENST00000288098	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
ISPD	729920	genome.wustl.edu	37	7	16445915	16445915	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:16445915A>G	ENST00000407010.2	-	2	304	c.305T>C	c.(304-306)aTg>aCg	p.M102T	ISPD_ENST00000399310.3_Missense_Mutation_p.M102T	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	102					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)	p.M102R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CATTACTTCCATGTTCTCTCC	0.363										Multiple Myeloma(15;0.18)																																							1	Substitution - Missense(1)	ovary(1)											105.0	101.0	102.0					7																	16445915		1916	4132	6048	SO:0001583	missense	0			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.305T>C	7.37:g.16445915A>G	ENSP00000385478:p.Met102Thr		A8MU35|H9KVB2	Missense_Mutation	SNP	pfam_IspD	p.M102T	ENST00000407010.2	37	c.305		7	.	.	.	.	.	.	.	.	.	.	A	9.973	1.226146	0.22542	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.85258	-1.96;-1.96	5.69	3.28	0.37604	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.529823	0.18170	U	0.149494	T	0.74801	0.3764	N	0.17723	0.515	0.25185	N	0.990178	B	0.25809	0.135	B	0.32289	0.143	T	0.63283	-0.6672	10	0.39692	T	0.17	-11.0741	8.2964	0.31988	0.7974:0.1339:0.0688:0.0	.	102	A4D126	ISPD_HUMAN	T	102	ENSP00000385478:M102T;ENSP00000382249:M102T	ENSP00000382249:M102T	M	-	2	0	ISPD	16412440	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	3.257000	0.51500	0.415000	0.25817	0.460000	0.39030	ATG	ISPD	-	pfam_IspD	ENSG00000214960		0.363	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ISPD	HGNC	protein_coding	OTTHUMT00000326252.4		0.00	36	0	A	NM_001101426		16445915	-1			no_errors	ENST00000407010	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.998	G
ITGA8	8516	genome.wustl.edu	37	10	15688907	15688907	+	Missense_Mutation	SNP	G	G	A	rs141621826		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:15688907G>A	ENST00000378076.3	-	12	1498	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	382					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCTCCCAAACGTCTCGGTGCC	0.473																																																	0								G	MET/THR	0,4406		0,0,2203	118.0	106.0	110.0		1145	-0.8	0.0	10	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA8	NM_003638.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	382/1064	15688907	1,13005	2203	4300	6503	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1145C>T	10.37:g.15688907G>A	ENSP00000367316:p.Thr382Met		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.T382M	ENST00000378076.3	37	c.1145	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	6.801	0.516882	0.13005	0.0	1.16E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.60424	0.19	5.35	-0.771	0.11002	.	0.566735	0.20373	N	0.093607	T	0.43545	0.1252	L	0.38175	1.15	0.09310	N	0.99999	P;P	0.47962	0.903;0.844	B;B	0.41764	0.366;0.201	T	0.41179	-0.9523	10	0.46703	T	0.11	.	10.0573	0.42252	0.7223:0.0:0.2777:0.0	.	367;382	F5H818;P53708	.;ITA8_HUMAN	M	382;367	ENSP00000367316:T382M	ENSP00000367316:T382M	T	-	2	0	ITGA8	15728913	0.987000	0.35691	0.001000	0.08648	0.017000	0.09413	2.527000	0.45615	-0.123000	0.11745	0.563000	0.77884	ACG	ITGA8	-	smart_Int_alpha_beta-p	ENSG00000077943		0.473	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0.00	45	0	G	NM_003638		15688907	-1	tier1	rs141621826	no_errors	ENST00000378076	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.156	A
ITGAL	3683	genome.wustl.edu	37	16	30490734	30490734	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:30490734G>A	ENST00000356798.6	+	6	708	c.528G>A	c.(526-528)ctG>ctA	p.L176L	ITGAL_ENST00000433423.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000358164.5_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	176	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGAAAATTCTGGACTTCATGA	0.423																																					NSCLC(110;1462 1641 3311 33990 49495)												0													93.0	84.0	87.0					16																	30490734		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.528G>A	16.37:g.30490734G>A			O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.L176	ENST00000356798.6	37	c.528	CCDS32433.1	16																																																																																			ITGAL	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000005844		0.423	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	-	0.00	34	0	G			30490734	+1	tier1	-	no_errors	ENST00000356798	ensembl	human	known	74_37	silent	19.15	38	9	SNP	0.997	A
KCNJ12	3768	genome.wustl.edu	37	17	21319233	21319233	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:21319233G>A	ENST00000583088.1	+	3	1474	c.579G>A	c.(577-579)acG>acA	p.T193T	KCNJ12_ENST00000331718.5_Silent_p.T193T	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	193					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGGCACAGACGCTGCTGTTCA	0.612										Prostate(3;0.18)																																							0													84.0	75.0	78.0					17																	21319233		2203	4300	6503	SO:0001819	synonymous_variant	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.579G>A	17.37:g.21319233G>A			O43401|Q15756|Q8NG63	Silent	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.T193	ENST00000583088.1	37	c.579	CCDS11219.1	17																																																																																			KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0.00	68	0	G	NM_021012		21319233	+1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	silent	18.18	36	8	SNP	0.400	A
KCNMA1	3778	genome.wustl.edu	37	10	78839253	78839253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:78839253G>A	ENST00000286628.8	-	13	1578	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	KCNMA1_ENST00000404857.1_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000354353.5_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000286627.5_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000484507.1_5'UTR|KCNMA1_ENST00000372440.1_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000406533.3_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000404771.3_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000372443.1_Nonsense_Mutation_p.Q527*	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	527	RCK N-terminal.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TTGTGATACTGCAGCATTTGA	0.463																																																	0													138.0	116.0	124.0					10																	78839253		2203	4300	6503	SO:0001587	stop_gained	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1579C>T	10.37:g.78839253G>A	ENSP00000286628:p.Gln527*		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.Q527*	ENST00000286628.8	37	c.1579		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.735651|8.735651	0.98933|0.98933	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208;ENST00000450795|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.81936|.	0.4928|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.83267|.	-0.0045|.	3|.	.|0.72032	.|D	.|0.01	-11.3248|-11.3248	19.8706|19.8706	0.96849|0.96849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	515;205;19|527;464;462;501;464;527;527;501;527;527;527;309	.|.	.|ENSP00000286627:Q527X	A|Q	-|-	2|1	0|0	KCNMA1|KCNMA1	78509259|78509259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.837000|9.837000	0.99465|0.99465	2.691000|2.691000	0.91804|0.91804	0.563000|0.563000	0.77884|0.77884	GCA|CAG	KCNMA1	-	pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu	ENSG00000156113		0.463	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0.00	44	0	G	NM_002247		78839253	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	nonsense	12.50	28	4	SNP	1.000	A
KCNQ3	3786	genome.wustl.edu	37	8	133142216	133142216	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:133142216A>G	ENST00000388996.4	-	15	2332	c.1912T>C	c.(1912-1914)Ttc>Ctc	p.F638L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.F518L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.F626L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	638					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCCACGAGGAAGTCCAGCTTC	0.517																																																	0													70.0	64.0	66.0					8																	133142216		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1912T>C	8.37:g.133142216A>G	ENSP00000373648:p.Phe638Leu		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.F638L	ENST00000388996.4	37	c.1912	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039706	0.75732	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99494	-6.01;-6.01;-6.01	5.73	5.73	0.89815	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.047081	0.85682	D	0.000000	D	0.98855	0.9613	N	0.26130	0.795	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	D	0.99342	1.0912	10	0.19590	T	0.45	-24.5147	15.1997	0.73126	1.0:0.0:0.0:0.0	.	626;638	E7ET42;O43525	.;KCNQ3_HUMAN	L	638;518;626;615;517	ENSP00000373648:F638L;ENSP00000429799:F518L;ENSP00000428790:F626L	ENSP00000373648:F638L	F	-	1	0	KCNQ3	133211398	1.000000	0.71417	0.993000	0.49108	0.874000	0.50279	8.730000	0.91510	2.190000	0.69967	0.454000	0.30748	TTC	KCNQ3	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000184156		0.517	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0.00	38	0	A	NM_004519		133142216	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	80.43	9	37	SNP	1.000	G
KCTD2	23510	genome.wustl.edu	37	17	73049184	73049184	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:73049184A>T	ENST00000322444.6	+	3	530	c.524A>T	c.(523-525)gAg>gTg	p.E175V	KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	175					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					CGGGACAATGAGAACAGAACT	0.473																																																	0													120.0	105.0	110.0					17																	73049184		2203	4300	6503	SO:0001583	missense	0			BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.524A>T	17.37:g.73049184A>T	ENSP00000312814:p.Glu175Val			Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E175V	ENST00000322444.6	37	c.524	CCDS32728.1	17	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155627	0.78114	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.43294	0.95	5.67	5.67	0.87782	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.27053	0.805	0.80722	D	1	P	0.42827	0.791	B	0.36719	0.231	T	0.21930	-1.0231	10	0.72032	D	0.01	.	15.9135	0.79491	1.0:0.0:0.0:0.0	.	175	Q14681	KCTD2_HUMAN	V	175;157	ENSP00000312814:E175V	ENSP00000312814:E175V	E	+	2	0	KCTD2	70560779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	2.155000	0.67459	0.533000	0.62120	GAG	KCTD2	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000180901		0.473	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD2	HGNC	protein_coding	OTTHUMT00000445538.1	-	0.00	73	0	A			73049184	+1	tier1	-	no_errors	ENST00000322444	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
KHDRBS1	10657	genome.wustl.edu	37	1	32508883	32508884	+	3'UTR	INS	-	-	A	rs180680107	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:32508883_32508884insA	ENST00000327300.7	+	0	2157_2158				KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTAATTGATATAAAAAAAAAAA	0.297																																					Ovarian(173;401 1982 12359 31110 42403)												0																																										SO:0001624	3_prime_UTR_variant	0			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.*659->A	1.37:g.32508894_32508894dupA				RNA	INS	-	NULL	ENST00000327300.7	37	NULL	CCDS350.1	1																																																																																			KHDRBS1	-	-	ENSG00000121774		0.297	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS1	HGNC	protein_coding	OTTHUMT00000011199.4		0.00	41	0	-	NM_006559		32508884	+1	tier1		no_errors	ENST00000307714	ensembl	human	known	74_37	rna	17.95	32	7	INS	0.907:0.991	A
KDM4A	9682	genome.wustl.edu	37	1	44149426	44149426	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:44149426G>T	ENST00000372396.3	+	12	1940	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	602	Interaction with NCOR1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CTTTAAGCAAGCTCCCCCGCC	0.468																																																	0													105.0	101.0	102.0					1																	44149426		2203	4300	6503	SO:0001583	missense	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1806G>T	1.37:g.44149426G>T	ENSP00000361473:p.Lys602Asn		Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.K602N	ENST00000372396.3	37	c.1806	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118723	0.77323	.	.	ENSG00000066135	ENST00000372396	T	0.52295	0.67	5.47	3.57	0.40892	.	0.214072	0.48286	D	0.000185	T	0.62319	0.2418	M	0.68317	2.08	0.36109	D	0.844652	D	0.71674	0.998	D	0.76071	0.987	T	0.67753	-0.5589	10	0.44086	T	0.13	-17.7547	10.7015	0.45931	0.1815:0.0:0.8185:0.0	.	602	O75164	KDM4A_HUMAN	N	602	ENSP00000361473:K602N	ENSP00000361473:K602N	K	+	3	2	KDM4A	43922013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.018000	0.30002	2.589000	0.87451	0.551000	0.68910	AAG	KDM4A	-	NULL	ENSG00000066135		0.468	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	-	0.00	47	0	G	NM_014663		44149426	+1	tier1	-	no_errors	ENST00000372396	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
KIAA2018	205717	genome.wustl.edu	37	3	113376139	113376139	+	Missense_Mutation	SNP	G	G	T	rs201212461		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:113376139G>T	ENST00000478658.1	-	5	4407	c.4390C>A	c.(4390-4392)Cag>Aag	p.Q1464K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q1464K			Q68DE3	K2018_HUMAN	KIAA2018	1464	Gln-rich.			Missing (in Ref. 2; CAH18277). {ECO:0000305}.		membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						tgctgctgctgctgctgctTT	0.498																																																	0													57.0	64.0	62.0					3																	113376139		2179	4278	6457	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4390C>A	3.37:g.113376139G>T	ENSP00000420721:p.Gln1464Lys		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q1464K	ENST00000478658.1	37	c.4390	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592743	0.28357	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.18810	2.19;2.19	.	.	.	.	.	.	.	.	T	0.12689	0.0308	L	0.29908	0.895	0.25370	N	0.988702	B	0.26041	0.14	B	0.22880	0.042	T	0.30031	-0.9992	7	0.29301	T	0.29	-4.7877	.	.	.	.	1464	Q68DE3	K2018_HUMAN	K	1464	ENSP00000320794:Q1464K;ENSP00000420721:Q1464K	ENSP00000320794:Q1464K	Q	-	1	0	KIAA2018	114858829	0.996000	0.38824	0.890000	0.34922	0.636000	0.38137	0.000000	0.12993	0.151000	0.19162	0.154000	0.16183	CAG	KIAA2018	-	NULL	ENSG00000176542		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0.00	31	0	G	NM_001009899		113376139	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	missense	26.32	14	5	SNP	0.962	T
KNDC1	85442	genome.wustl.edu	37	10	134974017	134974017	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:134974017G>A	ENST00000304613.3	+	1	67	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	KNDC1_ENST00000368572.2_Missense_Mutation_p.G16S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	16					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGAGGAGGACGGCAAAGACCT	0.756																																																	0													15.0	15.0	15.0					10																	134974017		2166	4268	6434	SO:0001583	missense	0			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.46G>A	10.37:g.134974017G>A	ENSP00000304437:p.Gly16Ser		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G16S	ENST00000304613.3	37	c.46	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	.	16.85	3.237914	0.58886	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.11821	2.74;2.74	2.32	1.35	0.21983	.	0.129013	0.26463	U	0.024235	T	0.09291	0.0229	L	0.51422	1.61	0.22562	N	0.998984	P	0.39181	0.663	B	0.27715	0.082	T	0.24225	-1.0166	10	0.87932	D	0	-10.5459	6.0444	0.19752	0.0:0.0:0.6951:0.3048	.	16	Q76NI1	VKIND_HUMAN	S	16	ENSP00000304437:G16S;ENSP00000357561:G16S	ENSP00000304437:G16S	G	+	1	0	KNDC1	134824007	0.001000	0.12720	0.414000	0.26521	0.505000	0.33919	0.450000	0.21762	0.490000	0.27771	0.174000	0.16983	GGC	KNDC1	-	NULL	ENSG00000171798		0.756	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	-	0.00	36	0	G	NM_152643		134974017	+1	tier1	-	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	44.68	26	21	SNP	0.784	A
KRT10	3858	genome.wustl.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547																																																	0									,,,	689,7,3556		198,0,293,0,7,1628					,,,	3.0	0.1		dbSNP_134	51	1494,8,6750		368,0,758,0,8,2992	no	intron,intron,intron,codingComplex	KRT10,TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1,NM_000421.3	,,,	566,0,1051,0,15,4620	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2016,16.3688,17.5784	,,,	,,,		2183,15,10306				SO:0001651	inframe_deletion	0			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.70_72delGGA	17.37:g.38978775_38978777delTCC	ENSP00000269576:p.Gly24del		Q14664|Q8N175	In_Frame_Del	DEL	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.G24in_frame_del	ENST00000269576.5	37	c.72_70	CCDS11377.1	17																																																																																			KRT10	-	NULL	ENSG00000186395		0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1		0.00	30	0	TCC	NM_000421		38978768	-1	tier1		no_errors	ENST00000269576	ensembl	human	known	74_37	in_frame_del	10.26	35	4	DEL	0.009:0.118:0.124	-
KRT12	3859	genome.wustl.edu	37	17	39018846	39018846	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:39018846G>A	ENST00000251643.4	-	7	1381	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	453	Tail.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CTGTGCTTGTGATTTGGAGTC	0.373																																																	0													154.0	145.0	148.0					17																	39018846		2203	4300	6503	SO:0001583	missense	0				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1358C>T	17.37:g.39018846G>A	ENSP00000251643:p.Ser453Leu		B2R9E0	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.S453L	ENST00000251643.4	37	c.1358	CCDS11378.1	17	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755411	0.49362	.	.	ENSG00000187242	ENST00000251643	D	0.82984	-1.67	4.71	4.71	0.59529	.	0.132317	0.35235	N	0.003350	T	0.72495	0.3467	L	0.38175	1.15	0.32769	N	0.504071	P	0.43477	0.808	B	0.33960	0.173	T	0.78239	-0.2281	10	0.27082	T	0.32	.	15.328	0.74182	0.0:0.0:1.0:0.0	.	453	Q99456	K1C12_HUMAN	L	453	ENSP00000251643:S453L	ENSP00000251643:S453L	S	-	2	0	KRT12	36272372	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	3.693000	0.54735	2.620000	0.88729	0.555000	0.69702	TCA	KRT12	-	NULL	ENSG00000187242		0.373	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	HGNC	protein_coding	OTTHUMT00000257214.2	-	0.00	46	0	G	NM_000223		39018846	-1	tier1	-	no_errors	ENST00000251643	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.986	A
KRT8	3856	genome.wustl.edu	37	12	53295762	53295762	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:53295762A>G	ENST00000552551.1	-	3	851	c.419T>C	c.(418-420)tTc>tCc	p.F140S	KRT8_ENST00000546897.1_Missense_Mutation_p.F140S|KRT8_ENST00000552150.1_Missense_Mutation_p.F168S|KRT8_ENST00000293308.6_Missense_Mutation_p.F140S			P05787	K2C8_HUMAN	keratin 8	140	Linker 1.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	GTAGCTCTCGAACATGTTGTC	0.572																																																	0													69.0	71.0	71.0					12																	53295762		2203	4300	6503	SO:0001583	missense	0			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.419T>C	12.37:g.53295762A>G	ENSP00000447566:p.Phe140Ser		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.F140S	ENST00000552551.1	37	c.419	CCDS8841.1	12	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950261	0.34377	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150;ENST00000546826;ENST00000548998;ENST00000546900;ENST00000547413	D;D;D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	4.53	4.53	0.55603	Filament (1);	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	H	0.96111	3.77	0.80722	D	1	B;B;B	0.24317	0.046;0.101;0.057	B;B;B	0.29077	0.06;0.098;0.077	D	0.93642	0.6965	10	0.87932	D	0	.	13.3987	0.60870	1.0:0.0:0.0:0.0	.	168;140;140	F8VXB4;F8VU64;P05787	.;.;K2C8_HUMAN	S	140;140;140;140;168;140;180;23;140	ENSP00000447566:F140S;ENSP00000293308:F140S;ENSP00000447402:F140S;ENSP00000449404:F168S;ENSP00000447881:F140S;ENSP00000447040:F180S;ENSP00000450340:F23S;ENSP00000448681:F140S	ENSP00000293308:F140S	F	-	2	0	KRT8	51582029	1.000000	0.71417	0.920000	0.36463	0.091000	0.18340	7.344000	0.79328	1.977000	0.57605	0.374000	0.22700	TTC	KRT8	-	pfam_IF	ENSG00000170421		0.572	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	HGNC	protein_coding	OTTHUMT00000406385.1		0.00	27	0	A	NM_002273		53295762	-1			no_errors	ENST00000293308	ensembl	human	known	74_37	missense	13.16	33	5	SNP	0.999	G
LENG9	94059	genome.wustl.edu	37	19	54969980	54969980	+	IGR	SNP	C	C	A	rs571343856		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:54969980C>A	ENST00000333834.4	-	0	1914				LENG8_ENST00000326764.5_Intron|LENG8_ENST00000376514.2_Intron	NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9								catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GTGTCTCTTCCTCCTGTTCTC	0.597																																																	0																																										SO:0001628	intergenic_variant	0			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273		19.37:g.54969980C>A			B2VAM3	Silent	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.S840	ENST00000333834.4	37	c.2520	CCDS12895.2	19																																																																																			LENG8	-	NULL	ENSG00000167615		0.597	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140806.3	-	0.00	60	0	C	NM_198988		54969980	+1	tier1	-	no_errors	ENST00000431846	ensembl	human	putative	74_37	silent	6.67	56	4	SNP	0.001	A
LHPP	64077	genome.wustl.edu	37	10	126301884	126301884	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:126301884C>T	ENST00000368842.5	+	7	796	c.768C>T	c.(766-768)aaC>aaT	p.N256N	LHPP_ENST00000482963.1_Intron|LHPP_ENST00000368839.1_3'UTR	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	256					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		ACGTGGACAACCTCGCAGAGG	0.662																																					GBM(165;1980 2715 15999 18454)												0													141.0	116.0	124.0					10																	126301884		2203	4300	6503	SO:0001819	synonymous_variant	0			AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.768C>T	10.37:g.126301884C>T			B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Silent	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	p.N256	ENST00000368842.5	37	c.768	CCDS7640.1	10																																																																																			LHPP	-	superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2	ENSG00000107902		0.662	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHPP	HGNC	protein_coding	OTTHUMT00000050870.1	-	0.00	106	0	C	NM_022126		126301884	+1	tier1	-	no_errors	ENST00000368842	ensembl	human	known	74_37	silent	20.83	76	20	SNP	1.000	T
LILRA3	11026	genome.wustl.edu	37	19	54802103	54802103	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:54802103G>A	ENST00000251390.3	-	6	1176	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	LILRA3_ENST00000391745.1_Missense_Mutation_p.A379V|LILRA3_ENST00000391744.3_Missense_Mutation_p.A298V	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	362	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAATCAGCTGCCCCCTCCTT	0.597																																																	0													105.0	93.0	97.0					19																	54802103		2194	4160	6354	SO:0001583	missense	0			U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1085C>T	19.37:g.54802103G>A	ENSP00000251390:p.Ala362Val		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.A362V	ENST00000251390.3	37	c.1085	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315586	0.23908	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00700	5.82;5.82;5.82	2.53	0.162	0.14981	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.574950	0.04163	N	0.323362	T	0.01421	0.0046	L	0.49455	1.56	0.09310	N	1	B;B	0.25563	0.129;0.09	B;B	0.37943	0.246;0.261	T	0.49399	-0.8944	10	0.66056	D	0.02	.	2.8472	0.05547	0.1623:0.0:0.5638:0.2739	.	362;362	E7EU74;Q8N6C8	.;LIRA3_HUMAN	V	362;298;379	ENSP00000251390:A362V;ENSP00000375624:A298V;ENSP00000375625:A379V	ENSP00000251390:A362V	A	-	2	0	LILRA3	59493915	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.162000	0.16501	0.130000	0.18549	0.591000	0.81541	GCA	LILRA3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000170866		0.597	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	-	0.00	101	0	G			54802103	-1	tier1	-	no_errors	ENST00000251390	ensembl	human	known	74_37	missense	17.42	109	23	SNP	0.000	A
LINC00052	145978	genome.wustl.edu	37	15	88121520	88121521	+	lincRNA	DEL	TC	TC	-	rs558084890|rs367939444|rs142830514	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:88121520_88121521delTC	ENST00000560153.1	+	0	389_390				RP11-648K4.2_ENST00000560439.1_lincRNA	NR_026869.1		Q96N35	TMM83_HUMAN	long intergenic non-protein coding RNA 52							integral component of membrane (GO:0016021)											tctgtttatgtctctctctctc	0.431																																																	0																																												0			AK056023		15q25.3	2012-10-12	2011-08-10	2011-08-10		ENSG00000259527		"""Long non-coding RNAs"""	26455	non-coding RNA	RNA, long non-coding			"""transmembrane protein 83"", ""non-protein coding RNA 52"""	TMEM83, NCRNA00052			Standard	NR_026869		Approved	FLJ31461	uc002bmc.1	Q96N35			15.37:g.88121530_88121531delTC				RNA	DEL	-	NULL	ENST00000560153.1	37	NULL		15																																																																																			LINC00052	-	-	ENSG00000259527		0.431	LINC00052-002	KNOWN	basic	lincRNA	LINC00052	HGNC	lincRNA	OTTHUMT00000416151.1		0.00	32	0	TC	XR_017978		88121521	+1	tier1		no_errors	ENST00000560153	ensembl	human	known	74_37	rna	20.00	16	4	DEL	0.018:0.021	-
LLGL1	3996	genome.wustl.edu	37	17	18137690	18137690	+	Missense_Mutation	SNP	C	C	T	rs572067853		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:18137690C>T	ENST00000316843.4	+	7	914	c.818C>T	c.(817-819)aCg>aTg	p.T273M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	273					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGCTTCCCAACGCTGCAGCCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18256	0.001		0.0	False		,,,				2504	0.0																0													26.0	23.0	24.0					17																	18137690		2203	4298	6501	SO:0001583	missense	0				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.818C>T	17.37:g.18137690C>T	ENSP00000321537:p.Thr273Met		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.T273M	ENST00000316843.4	37	c.818	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405428	0.25378	.	.	ENSG00000131899	ENST00000316843	T	0.66995	-0.24	5.86	-0.293	0.12835	WD40 repeat-like-containing domain (1);	0.815883	0.11391	N	0.568805	T	0.44117	0.1278	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.12156	0.007	T	0.22626	-1.0211	10	0.37606	T	0.19	0.1604	6.5192	0.22264	0.0:0.5969:0.1159:0.2872	.	273	Q15334	L2GL1_HUMAN	M	273	ENSP00000321537:T273M	ENSP00000321537:T273M	T	+	2	0	LLGL1	18078415	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.461000	0.21940	-0.231000	0.09825	-0.149000	0.13747	ACG	LLGL1	-	superfamily_WD40_repeat_dom	ENSG00000131899		0.617	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	-	0.00	46	0	C			18137690	+1	tier1	-	no_errors	ENST00000316843	ensembl	human	known	74_37	missense	70.97	8	22	SNP	0.000	T
LPAL2	80350	genome.wustl.edu	37	6	160908421	160908421	+	RNA	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:160908421C>T	ENST00000335388.5	-	0	551					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CACCAAGGGCCTGCCGAACAA	0.483																																																	0													102.0	91.0	95.0					6																	160908421		2203	4300	6503			0			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160908421C>T			E1P5B4	RNA	SNP	-	NULL	ENST00000335388.5	37	NULL		6																																																																																			LPAL2	-	-	ENSG00000213071		0.483	LPAL2-003	KNOWN	basic	processed_transcript	LPAL2	HGNC	pseudogene	OTTHUMT00000042950.1	-	0.00	74	0	C	NM_024492		160908421	-1	tier1	-	no_errors	ENST00000335388	ensembl	human	known	74_37	rna	34.48	38	20	SNP	0.019	T
LRRC14B	389257	genome.wustl.edu	37	5	195433	195433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:195433G>T	ENST00000328278.3	+	2	1538	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	504								p.E516Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						AACTGCTCTAGAAAACTTCTC	0.478																																																	1	Substitution - Missense(1)	lung(1)											42.0	42.0	42.0					5																	195433		1933	4147	6080	SO:0001587	stop_gained	0				CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1510G>T	5.37:g.195433G>T	ENSP00000327675:p.Glu504*			Nonsense_Mutation	SNP	NULL	p.E504*	ENST00000328278.3	37	c.1510	CCDS47184.1	5	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477230	0.63849	.	.	ENSG00000185028	ENST00000328278	.	.	.	5.43	5.43	0.79202	.	0.178222	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.733	0.85440	0.0:0.0:1.0:0.0	.	.	.	.	X	504	.	ENSP00000327675:E504X	E	+	1	0	LRRC14B	248433	1.000000	0.71417	0.919000	0.36401	0.056000	0.15407	3.949000	0.56668	2.565000	0.86533	0.561000	0.74099	GAA	LRRC14B	-	NULL	ENSG00000185028		0.478	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC14B	HGNC	protein_coding	OTTHUMT00000365393.2		0.00	43	0	G	NM_001080478		195433	+1			no_errors	ENST00000328278	ensembl	human	novel	74_37	nonsense	5.88	32	2	SNP	0.997	T
LRRC27	80313	genome.wustl.edu	37	10	134158106	134158106	+	Missense_Mutation	SNP	C	C	T	rs533190111		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:134158106C>T	ENST00000368614.3	+	5	610	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	LRRC27_ENST00000368613.4_Missense_Mutation_p.R169W|LRRC27_ENST00000368612.1_Missense_Mutation_p.R107W|LRRC27_ENST00000368615.3_Missense_Mutation_p.R169W|LRRC27_ENST00000392638.2_Missense_Mutation_p.R169W|LRRC27_ENST00000368610.3_Missense_Mutation_p.R107W|LRRC27_ENST00000432555.2_Missense_Mutation_p.R42W|LRRC27_ENST00000356571.4_Missense_Mutation_p.A149V|LRRC27_ENST00000344079.5_Missense_Mutation_p.R169W	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	169										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCGCTTCCTGCGGATGTGGGC	0.488																																																	0													133.0	131.0	132.0					10																	134158106		2203	4300	6503	SO:0001583	missense	0			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.505C>T	10.37:g.134158106C>T	ENSP00000357603:p.Arg169Trp		A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R169W	ENST00000368614.3	37	c.505	CCDS31316.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.66|10.66	1.411282|1.411282	0.25465|0.25465	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000356571|ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T|T;T;T;T;T;T;T;T	0.63255|0.60424	-0.03|2.34;2.26;2.26;2.26;2.26;4.05;4.05;0.19	5.16|5.16	3.32|3.32	0.38043|0.38043	.|.	.|0.193128	.|0.25839	.|N	.|0.027973	T|T	0.64080|0.64080	0.2566|0.2566	L|L	0.55213|0.55213	1.73|1.73	0.25684|0.25684	N|N	0.985764|0.985764	.|D;P;P;D;D	.|0.71674	.|0.997;0.56;0.597;0.995;0.998	.|P;B;B;P;P	.|0.57283	.|0.817;0.112;0.215;0.609;0.721	T|T	0.57556|0.57556	-0.7791|-0.7791	7|10	0.51188|0.87932	T|D	0.08|0	-17.8178|-17.8178	10.3284|10.3284	0.43807|0.43807	0.0:0.8878:0.0:0.1122|0.0:0.8878:0.0:0.1122	.|.	.|169;42;107;169;169	.|Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.|.;.;.;LRC27_HUMAN;.	V|W	149|169;169;169;169;169;107;107;42	ENSP00000348978:A149V|ENSP00000357604:R169W;ENSP00000376413:R169W;ENSP00000342641:R169W;ENSP00000357603:R169W;ENSP00000357602:R169W;ENSP00000357601:R107W;ENSP00000357599:R107W;ENSP00000407949:R42W	ENSP00000348978:A149V|ENSP00000342641:R169W	A|R	+|+	2|1	0|2	LRRC27|LRRC27	134008096|134008096	0.210000|0.210000	0.23517|0.23517	0.415000|0.415000	0.26534|0.26534	0.150000|0.150000	0.21749|0.21749	0.774000|0.774000	0.26675|0.26675	0.690000|0.690000	0.31570|0.31570	0.655000|0.655000	0.94253|0.94253	GCG|CGG	LRRC27	-	NULL	ENSG00000148814		0.488	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC27	HGNC	protein_coding	OTTHUMT00000051058.2	-	0.00	67	0	C	XM_290462		134158106	+1	tier1	-	no_errors	ENST00000368613	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.609	T
LRRC37A	9884	genome.wustl.edu	37	17	44408220	44408220	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:44408220G>A	ENST00000320254.5	+	9	3580	c.3577G>A	c.(3577-3579)Gcc>Acc	p.A1193T	ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575960.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.A1193T|LRRC37A_ENST00000496930.1_Missense_Mutation_p.A231T|ARL17B_ENST00000570618.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1193						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GGAACAGGGTGCCCAGGCATC	0.572																																																	0													31.0	25.0	28.0					17																	44408220		1680	1818	3498	SO:0001583	missense	0			BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.3577G>A	17.37:g.44408220G>A	ENSP00000326324:p.Ala1193Thr		Q68DY2|Q8IWC7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A1193T	ENST00000320254.5	37	c.3577	CCDS11504.2	17	.	.	.	.	.	.	.	.	.	.	g	9.891	1.204292	0.22205	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.60171	1.38;0.21;0.22	2.15	1.17	0.20885	.	.	.	.	.	T	0.67050	0.2852	M	0.68593	2.085	0.09310	N	1	P;P;D	0.63880	0.89;0.575;0.993	P;B;D	0.68192	0.495;0.169;0.956	T	0.52668	-0.8545	9	0.49607	T	0.09	.	4.7176	0.12903	0.1869:0.0:0.8131:0.0	.	231;313;1193	E9PP10;Q5YKG5;A6NMS7	.;.;L37A1_HUMAN	T	231;1193;1193;1193	ENSP00000437021:A231T;ENSP00000377108:A1193T;ENSP00000326324:A1193T	ENSP00000326324:A1193T	A	+	1	0	LRRC37A	41763981	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.550000	0.06034	0.469000	0.27268	-0.465000	0.05216	GCC	LRRC37A	-	NULL	ENSG00000176681		0.572	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	HGNC	protein_coding	OTTHUMT00000313519.3	-	0.00	38	0	G	NM_014834		44408220	+1	tier1	-	no_errors	ENST00000320254	ensembl	human	known	74_37	missense	83.33	8	40	SNP	0.001	A
LRRC37A	9884	genome.wustl.edu	37	17	44408942	44408942	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:44408942C>A	ENST00000320254.5	+	9	4302	c.4299C>A	c.(4297-4299)aaC>aaA	p.N1433K	ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575960.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.N1433K|LRRC37A_ENST00000496930.1_Missense_Mutation_p.N471K|ARL17B_ENST00000570618.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1433						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTGCATTCAACTTAGGGCCAA	0.448																																																	0													5.0	3.0	4.0					17																	44408942		1231	1858	3089	SO:0001583	missense	0			BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.4299C>A	17.37:g.44408942C>A	ENSP00000326324:p.Asn1433Lys		Q68DY2|Q8IWC7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N1433K	ENST00000320254.5	37	c.4299	CCDS11504.2	17	.	.	.	.	.	.	.	.	.	.	c	8.527	0.870044	0.17322	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.62232	1.32;0.04;0.05	2.31	0.145	0.14829	.	.	.	.	.	T	0.53142	0.1778	L	0.51422	1.61	0.09310	N	1	P;B;P	0.48503	0.911;0.414;0.455	P;B;B	0.45232	0.474;0.03;0.111	T	0.47923	-0.9079	9	0.66056	D	0.02	.	2.7465	0.05268	0.2773:0.5563:0.0:0.1664	.	471;553;1433	E9PP10;Q5YKG5;A6NMS7	.;.;L37A1_HUMAN	K	471;1433;1433;1433	ENSP00000437021:N471K;ENSP00000377108:N1433K;ENSP00000326324:N1433K	ENSP00000326324:N1433K	N	+	3	2	LRRC37A	41764703	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.924000	0.03996	0.069000	0.16605	-0.751000	0.03497	AAC	LRRC37A	-	NULL	ENSG00000176681		0.448	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	HGNC	protein_coding	OTTHUMT00000313519.3	-	0.00	22	0	C	NM_014834		44408942	+1	tier1	-	no_errors	ENST00000320254	ensembl	human	known	74_37	missense	72.00	7	18	SNP	0.000	A
LRRC8B	23507	genome.wustl.edu	37	1	90049550	90049550	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:90049550G>A	ENST00000330947.2	+	5	1701	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	LRRC8B_ENST00000358200.4_Silent_p.L447L|LRRC8B_ENST00000439853.1_Silent_p.L447L|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	447					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TGCTAAGCCTGGAGCTTATCC	0.473																																																	0													55.0	57.0	56.0					1																	90049550		2203	4300	6503	SO:0001819	synonymous_variant	0			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1341G>A	1.37:g.90049550G>A			D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L447	ENST00000330947.2	37	c.1341	CCDS724.1	1																																																																																			LRRC8B	-	NULL	ENSG00000197147		0.473	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	-	0.00	25	0	G	NM_015350		90049550	+1	tier1	-	no_errors	ENST00000330947	ensembl	human	known	74_37	silent	22.22	21	6	SNP	1.000	A
MAGEB1	4112	genome.wustl.edu	37	X	30269482	30269482	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:30269482A>G	ENST00000378981.3	+	4	1193	c.872A>G	c.(871-873)aAg>aGg	p.K291R	MAGEB1_ENST00000397550.1_Missense_Mutation_p.K291R|MAGEB1_ENST00000397548.2_Missense_Mutation_p.K291R	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	291	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TTTTTGGCCAAGATGAATGGT	0.527																																																	0													137.0	114.0	122.0					X																	30269482		2202	4300	6502	SO:0001583	missense	0				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.872A>G	X.37:g.30269482A>G	ENSP00000368264:p.Lys291Arg		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K291R	ENST00000378981.3	37	c.872	CCDS14222.1	X	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403286	0.25291	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.02032	4.49;4.49;4.49	3.86	2.7	0.31948	.	0.249006	0.39909	N	0.001232	T	0.03263	0.0095	L	0.58583	1.82	0.09310	N	0.999999	B	0.31413	0.322	B	0.36464	0.225	T	0.33954	-0.9848	10	0.49607	T	0.09	.	5.0231	0.14370	0.8641:0.0:0.1359:0.0	.	291	P43366	MAGB1_HUMAN	R	291	ENSP00000368264:K291R;ENSP00000380683:K291R;ENSP00000380681:K291R	ENSP00000368264:K291R	K	+	2	0	MAGEB1	30179403	0.265000	0.24102	0.443000	0.26883	0.082000	0.17680	0.346000	0.19997	0.656000	0.30886	0.417000	0.27973	AAG	MAGEB1	-	pfscan_MAGE	ENSG00000214107		0.527	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	-	0.00	19	0	A	NM_002363		30269482	+1	tier1	-	no_errors	ENST00000378981	ensembl	human	known	74_37	missense	69.23	8	18	SNP	0.409	G
MAGEE2	139599	genome.wustl.edu	37	X	75003412	75003412	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:75003412G>A	ENST00000373359.2	-	1	1667	c.1475C>T	c.(1474-1476)cCa>cTa	p.P492L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	492	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGTTCTGTGGTCGCTTTCT	0.478																																																	0													90.0	70.0	77.0					X																	75003412		2203	4300	6503	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1475C>T	X.37:g.75003412G>A	ENSP00000362457:p.Pro492Leu		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P492L	ENST00000373359.2	37	c.1475	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536705	0.27475	.	.	ENSG00000186675	ENST00000373359	T	0.08896	3.04	2.73	1.81	0.25067	.	.	.	.	.	T	0.12987	0.0315	M	0.84156	2.68	0.18873	N	0.999983	P	0.47762	0.9	B	0.41510	0.359	T	0.16897	-1.0387	9	0.87932	D	0	.	6.0626	0.19846	0.0:0.0:0.6966:0.3034	.	492	Q8TD90	MAGE2_HUMAN	L	492	ENSP00000362457:P492L	ENSP00000362457:P492L	P	-	2	0	MAGEE2	74920137	0.993000	0.37304	0.007000	0.13788	0.670000	0.39368	0.718000	0.25866	0.531000	0.28639	0.417000	0.27973	CCA	MAGEE2	-	pfscan_MAGE	ENSG00000186675		0.478	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	-	0.00	37	0	G	NM_138703		75003412	-1	tier1	-	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	69.77	13	30	SNP	0.006	A
MAP2K4	6416	genome.wustl.edu	37	17	12044531	12044531	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:12044531T>A	ENST00000353533.5	+	11	1217	c.1154T>A	c.(1153-1155)cTg>cAg	p.L385Q	MAP2K4_ENST00000415385.3_Missense_Mutation_p.L396Q	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	385	DVD domain.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TGTAAAATCCTGGATCAAATG	0.408			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	12	Whole gene deletion(10)|Unknown(2)	ovary(4)|breast(4)|pancreas(2)|biliary_tract(1)|lung(1)											150.0	129.0	136.0					17																	12044531		2203	4299	6502	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1154T>A	17.37:g.12044531T>A	ENSP00000262445:p.Leu385Gln		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.L396Q	ENST00000353533.5	37	c.1187	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275928	0.80580	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.73897	-0.71;-0.79	5.53	4.44	0.53790	Protein kinase-like domain (1);	0.139093	0.50627	D	0.000117	D	0.83644	0.5299	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.979;1.0;0.999	P;D;D	0.71414	0.769;0.973;0.941	D	0.84809	0.0789	10	0.87932	D	0	.	11.8368	0.52330	0.0:0.0:0.1469:0.8531	.	257;396;385	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	Q	385;396;362;257	ENSP00000262445:L385Q;ENSP00000410402:L396Q	ENSP00000262445:L385Q	L	+	2	0	MAP2K4	11985256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.864000	0.87037	1.083000	0.41159	0.528000	0.53228	CTG	MAP2K4	-	superfamily_Kinase-like_dom	ENSG00000065559		0.408	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1		0.00	38	0	T			12044531	+1			no_errors	ENST00000415385	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	A
MAP3K5	4217	genome.wustl.edu	37	6	136913591	136913591	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:136913591G>A	ENST00000359015.4	-	22	3400	c.3040C>T	c.(3040-3042)Cgg>Tgg	p.R1014W	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R261W	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1014					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AAGAGTGTCCGAATTCCCTTG	0.448																																																	0													156.0	157.0	157.0					6																	136913591		2203	4300	6503	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3040C>T	6.37:g.136913591G>A	ENSP00000351908:p.Arg1014Trp		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1014W	ENST00000359015.4	37	c.3040	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846844	0.51164	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.72505	-0.51;-0.66	5.78	4.91	0.64330	.	0.058093	0.64402	D	0.000002	T	0.73984	0.3657	L	0.51422	1.61	0.53688	D	0.999976	D;D	0.89917	0.984;1.0	P;D	0.79784	0.586;0.993	T	0.78125	-0.2326	10	0.66056	D	0.02	.	13.5545	0.61751	0.0:0.0:0.5986:0.4014	.	1095;1014	Q59GL6;Q99683	.;M3K5_HUMAN	W	1014;261;1094	ENSP00000351908:R1014W;ENSP00000348104:R261W	ENSP00000348104:R261W	R	-	1	2	MAP3K5	136955284	0.958000	0.32768	0.986000	0.45419	0.977000	0.68977	1.530000	0.36007	1.431000	0.47355	0.655000	0.94253	CGG	MAP3K5	-	NULL	ENSG00000197442		0.448	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1		0.00	29	0	G			136913591	-1			no_errors	ENST00000359015	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.960	A
MBOAT2	129642	genome.wustl.edu	37	2	9017337	9017337	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:9017337C>T	ENST00000305997.3	-	7	711	c.513G>A	c.(511-513)atG>atA	p.M171I	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	171					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTAAGCTTGGCATGCGCCTGC	0.438																																					Ovarian(194;1699 3813 22401)												0													77.0	68.0	71.0					2																	9017337		2203	4300	6503	SO:0001583	missense	0			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.513G>A	2.37:g.9017337C>T	ENSP00000302177:p.Met171Ile		A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt	p.M171I	ENST00000305997.3	37	c.513	CCDS1660.1	2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361773	0.24684	.	.	ENSG00000143797	ENST00000305997;ENST00000462696	T;T	0.72942	1.0;-0.7	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	L	0.43701	1.375	0.80722	D	1	B;B	0.19073	0.033;0.03	B;B	0.23018	0.042;0.043	T	0.59825	-0.7381	10	0.20519	T	0.43	-30.7983	18.8419	0.92188	0.0:1.0:0.0:0.0	.	171;171	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	I	171;148	ENSP00000302177:M171I;ENSP00000417409:M148I	ENSP00000302177:M171I	M	-	3	0	MBOAT2	8934788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.451000	0.82905	0.650000	0.86243	ATG	MBOAT2	-	pfam_MBOAT_fam	ENSG00000143797		0.438	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT2	HGNC	protein_coding	OTTHUMT00000206735.1	-	0.00	47	0	C	NM_138799		9017337	-1	tier1	-	no_errors	ENST00000305997	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T
MCRS1	10445	genome.wustl.edu	37	12	49956845	49956845	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:49956845C>T	ENST00000550165.1	-	9	1010	c.744G>A	c.(742-744)gcG>gcA	p.A248A	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000357123.4_Silent_p.A261A|MCRS1_ENST00000546244.1_Silent_p.A57A|MCRS1_ENST00000343810.4_Silent_p.A248A			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	248					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GCAGGGCCTTCGCGGTACGGG	0.602																																																	0													56.0	48.0	50.0					12																	49956845		2201	4298	6499	SO:0001819	synonymous_variant	0			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.744G>A	12.37:g.49956845C>T			O14742|O75497|Q6VN53|Q7Z372	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A261	ENST00000550165.1	37	c.783	CCDS8787.1	12																																																																																			MCRS1	-	NULL	ENSG00000187778		0.602	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	HGNC	protein_coding	OTTHUMT00000405102.1	-	0.00	57	0	C	NM_006337		49956845	-1	tier1	-	no_errors	ENST00000357123	ensembl	human	known	74_37	silent	22.22	27	8	SNP	0.999	T
MDGA2	161357	genome.wustl.edu	37	14	47351346	47351346	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:47351346A>C	ENST00000399232.2	-	11	2474	c.2110T>G	c.(2110-2112)Ttg>Gtg	p.L704V	MDGA2_ENST00000426342.1_Missense_Mutation_p.L475V|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.L773V|MDGA2_ENST00000357362.3_Missense_Mutation_p.L475V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	704	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AGCTCTGTCAAGTTATATGTA	0.378																																																	0													63.0	61.0	62.0					14																	47351346		1824	4087	5911	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2110T>G	14.37:g.47351346A>C	ENSP00000382178:p.Leu704Val		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.L773V	ENST00000399232.2	37	c.2317		14	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767160	0.69878	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.1	3.78	0.43462	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.41194	U	0.000924	T	0.48572	0.1507	M	0.61703	1.905	0.80722	D	1	D;P	0.54397	0.966;0.897	P;P	0.56563	0.801;0.463	T	0.53982	-0.8361	10	0.09084	T	0.74	.	3.9378	0.09313	0.7057:0.0:0.2943:0.0	.	475;704	F6W3S7;Q7Z553	.;MDGA2_HUMAN	V	704;475;773;475	ENSP00000400011:L704V;ENSP00000405456:L475V;ENSP00000382178:L773V;ENSP00000349925:L475V	ENSP00000349925:L475V	L	-	1	2	MDGA2	46421096	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.160000	0.71862	2.059000	0.61396	0.383000	0.25322	TTG	MDGA2	-	superfamily_Fibronectin_type3	ENSG00000272781		0.378	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0.00	51	0	A	NM_182830		47351346	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	34.85	43	23	SNP	1.000	C
MKRN3	7681	genome.wustl.edu	37	15	23811272	23811272	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:23811272T>C	ENST00000314520.3	+	1	819	c.343T>C	c.(343-345)Tgt>Cgt	p.C115R	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	115					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGGGGAGAACTGTCGCTATTC	0.602																																																	0													61.0	62.0	62.0					15																	23811272		2203	4300	6503	SO:0001583	missense	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.343T>C	15.37:g.23811272T>C	ENSP00000313881:p.Cys115Arg			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.C115R	ENST00000314520.3	37	c.343	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270158	0.80469	.	.	ENSG00000179455	ENST00000314520	T	0.72835	-0.69	3.94	3.94	0.45596	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80942	-0.1157	10	0.87932	D	0	.	9.5086	0.39062	0.0:0.0:0.0:1.0	.	115	Q13064	MKRN3_HUMAN	R	115	ENSP00000313881:C115R	ENSP00000313881:C115R	C	+	1	0	MKRN3	21362365	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	5.968000	0.70413	2.023000	0.59567	0.460000	0.39030	TGT	MKRN3	-	smart_Znf_CCCH	ENSG00000179455		0.602	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	-	0.00	60	0	T	NM_005664		23811272	+1	tier1	-	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	86.05	6	37	SNP	1.000	C
MRPL18	29074	genome.wustl.edu	37	6	160211791	160211791	+	Intron	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:160211791G>A	ENST00000367034.4	+	1	174				TCP1_ENST00000544255.1_5'Flank|TCP1_ENST00000420894.2_5'Flank|TCP1_ENST00000321394.7_5'Flank|TCP1_ENST00000392168.2_5'Flank|TCP1_ENST00000546023.1_5'Flank|MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18						rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		GCGGCACTGCGAAGACCACAG	0.537																																																	0																																										SO:0001627	intron_variant	0			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.52+120G>A	6.37:g.160211791G>A			Q5TAP9|Q9NZW8	RNA	SNP	-	NULL	ENST00000367034.4	37	NULL	CCDS5270.1	6																																																																																			MRPL18	-	-	ENSG00000112110		0.537	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL18	HGNC	protein_coding	OTTHUMT00000042925.1	-	0.00	21	0	G			160211791	+1	tier1	-	no_errors	ENST00000479638	ensembl	human	known	74_37	rna	18.42	31	7	SNP	0.000	A
MSTO1	55154	genome.wustl.edu	37	1	155583316	155583316	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:155583316C>G	ENST00000245564.2	+	12	1371	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.I414M|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	449					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GGGAAGAAATCTTGGCTCAGT	0.537																																																	0													35.0	29.0	31.0					1																	155583316		2203	4295	6498	SO:0001583	missense	0			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.1347C>G	1.37:g.155583316C>G	ENSP00000245564:p.Ile449Met		Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	pfam_Misato_II_tubulin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase	p.I449M	ENST00000245564.2	37	c.1347	CCDS1114.1	1	.	.	.	.	.	.	.	.	.	.	c	0.979	-0.697582	0.03279	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.38560	1.13;1.15	2.8	2.8	0.32819	.	0.220707	0.38164	N	0.001791	T	0.07279	0.0184	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B	0.16802	0.001;0.0;0.001;0.019;0.0;0.002;0.002	B;B;B;B;B;B;B	0.19666	0.002;0.001;0.0;0.026;0.001;0.003;0.003	T	0.15235	-1.0444	10	0.12103	T	0.63	.	9.8457	0.41026	0.0:0.7881:0.2119:0.0	.	394;449;414;271;449;449;449	B4DLS9;A8K3J5;Q9BUK6-7;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;MSTO1_HUMAN;.;.	M	449;414	ENSP00000245564:I449M;ENSP00000357325:I414M	ENSP00000245564:I449M	I	+	3	3	MSTO1	153849940	0.350000	0.24878	0.997000	0.53966	0.308000	0.27856	0.152000	0.16302	1.579000	0.49836	0.306000	0.20318	ATC	MSTO1	-	NULL	ENSG00000125459		0.537	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1		0.00	66	0	C	NM_018116		155583316	+1			no_errors	ENST00000245564	ensembl	human	known	74_37	missense	9.09	60	6	SNP	1.000	G
MUC19	283463	genome.wustl.edu	37	12	40926018	40926018	+	3'UTR	SNP	T	T	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:40926018T>G	ENST00000474954.1	+	0	4288				MUC19_ENST00000454784.4_Intron			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						ATTCTCCTACTTTTTTTCCTC	0.403																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000474954.1:c.*4285T>G	12.37:g.40926018T>G			Q8NA85	RNA	SNP	-	NULL	ENST00000474954.1	37	NULL		12																																																																																			MUC19	-	-	ENSG00000205592		0.403	MUC19-006	KNOWN	basic	processed_transcript	MUC19	HGNC	protein_coding	OTTHUMT00000134360.1	-	0.00	60	0	T	XM_003403524		40926018	+1	tier1	-	no_errors	ENST00000474954	ensembl	human	known	74_37	rna	41.46	24	17	SNP	0.001	G
MUC6	4588	genome.wustl.edu	37	11	1027748	1027748	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:1027748C>T	ENST00000421673.2	-	16	1968	c.1918G>A	c.(1918-1920)Gta>Ata	p.V640I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	640					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGCGTGTACGTAGTCGCCC	0.657																																																	0													27.0	33.0	31.0					11																	1027748		2106	4212	6318	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1918G>A	11.37:g.1027748C>T	ENSP00000406861:p.Val640Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.V640I	ENST00000421673.2	37	c.1918	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397824	0.42512	.	.	ENSG00000184956	ENST00000421673	T	0.77358	-1.09	4.18	4.18	0.49190	Uncharacterised domain, cysteine-rich (2);	0.702209	0.10462	U	0.671888	T	0.78400	0.4277	L	0.53561	1.675	0.19300	N	0.999975	D	0.53462	0.96	P	0.44860	0.462	T	0.71892	-0.4455	10	0.56958	D	0.05	.	17.0569	0.86536	0.0:1.0:0.0:0.0	.	640	Q6W4X9	MUC6_HUMAN	I	640	ENSP00000406861:V640I	ENSP00000406861:V640I	V	-	1	0	MUC6	1017748	0.597000	0.26874	0.016000	0.15963	0.002000	0.02628	5.570000	0.67398	2.341000	0.79615	0.484000	0.47621	GTA	MUC6	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000184956		0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0.00	35	0	C	XM_290540		1027748	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.545	T
MYCBP2	23077	genome.wustl.edu	37	13	77673005	77673005	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:77673005C>T	ENST00000544440.2	-	56	8187	c.8170G>A	c.(8170-8172)Gaa>Aaa	p.E2724K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E2724K|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E2762K|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Missense_Mutation_p.E247K|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GATAAACTTTCTGTGCCCCTT	0.453																																																	0													136.0	123.0	128.0					13																	77673005		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8170G>A	13.37:g.77673005C>T	ENSP00000444596:p.Glu2724Lys			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E2762K	ENST00000544440.2	37	c.8284		13	.	.	.	.	.	.	.	.	.	.	C	9.995	1.231980	0.22626	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.50277	1.47;1.47;1.47;0.75	5.7	5.7	0.88788	.	0.227074	0.45361	D	0.000379	T	0.36799	0.0980	L	0.27053	0.805	0.40073	D	0.976041	P;B;B	0.41848	0.763;0.13;0.079	B;B;B	0.36608	0.229;0.055;0.015	T	0.12941	-1.0528	10	0.22706	T	0.39	.	19.8247	0.96612	0.0:1.0:0.0:0.0	.	110;2724;2724	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	K	2724;2762;2724;247	ENSP00000349892:E2724K;ENSP00000384288:E2762K;ENSP00000444596:E2724K;ENSP00000353197:E247K	ENSP00000349892:E2724K	E	-	1	0	MYCBP2	76571006	1.000000	0.71417	0.515000	0.27774	0.323000	0.28346	5.359000	0.66074	2.696000	0.92011	0.655000	0.94253	GAA	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.453	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0.00	42	0	C	NM_015057		77673005	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.994	T
MYH1	4619	genome.wustl.edu	37	17	10408741	10408741	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:10408741G>T	ENST00000226207.5	-	20	2356	c.2262C>A	c.(2260-2262)gaC>gaA	p.D754E	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	754	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTGGTCAATGTCAATGGACC	0.408																																																	0													119.0	116.0	117.0					17																	10408741		2203	4300	6503	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2262C>A	17.37:g.10408741G>T	ENSP00000226207:p.Asp754Glu		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D754E	ENST00000226207.5	37	c.2262	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	4.196	0.035068	0.08101	.	.	ENSG00000109061	ENST00000226207	D	0.86769	-2.17	5.47	-8.95	0.00765	Myosin head, motor domain (2);	0.000000	0.44902	U	0.000417	T	0.70649	0.3248	N	0.12887	0.27	0.25714	N	0.985459	B	0.02656	0.0	B	0.04013	0.001	T	0.30031	-0.9992	10	0.24483	T	0.36	.	17.9337	0.89006	0.6072:0.0:0.3928:0.0	.	754	P12882	MYH1_HUMAN	E	754	ENSP00000226207:D754E	ENSP00000226207:D754E	D	-	3	2	MYH1	10349466	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.493000	0.06459	-2.053000	0.00901	-2.084000	0.00378	GAC	MYH1	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000109061		0.408	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1		0.00	34	0	G	NM_005963		10408741	-1			no_errors	ENST00000226207	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.000	T
MYO19	80179	genome.wustl.edu	37	17	34858967	34858967	+	Missense_Mutation	SNP	C	C	T	rs199688601		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:34858967C>T	ENST00000431794.3	-	21	2572	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N	MYO19_ENST00000268852.9_Missense_Mutation_p.D484N	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	684	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TATGGGCTGTCGGGGCCAGAG	0.517																																																	0								C	ASN/ASP,ASN/ASP	0,3906		0,0,1953	174.0	183.0	180.0		2050,1450	-3.6	0.0	17		180	1,8309		0,1,4154	no	missense,missense	MYO19	NM_001163735.1,NM_025109.5	23,23	0,1,6107	TT,TC,CC		0.012,0.0,0.0082	benign,benign	684/971,484/771	34858967	1,12215	1953	4155	6108	SO:0001583	missense	0			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2050G>A	17.37:g.34858967C>T	ENSP00000409936:p.Asp684Asn		Q59GS4|Q9H5X2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D684N	ENST00000431794.3	37	c.2050	CCDS54112.1	17	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076740	0.20227	0.0	1.2E-4	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.89270	-2.3;-2.49	5.25	-3.56	0.04626	Myosin head, motor domain (1);	.	.	.	.	T	0.66655	0.2811	N	0.02011	-0.69	0.09310	N	1	B;B	0.14012	0.0;0.009	B;B	0.11329	0.0;0.006	T	0.55302	-0.8162	9	0.41790	T	0.15	.	2.3545	0.04292	0.2206:0.3566:0.3028:0.12	.	684;484	Q96H55;Q96H55-4	MYO19_HUMAN;.	N	684;484	ENSP00000409936:D684N;ENSP00000268852:D484N	ENSP00000268852:D484N	D	-	1	0	MYO19	31933080	0.001000	0.12720	0.004000	0.12327	0.061000	0.15899	0.013000	0.13310	-0.809000	0.04381	-1.161000	0.01788	GAC	MYO19	-	superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000141140		0.517	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1		0.00	44	0	C	NM_025109		34858967	-1			no_errors	ENST00000431794	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.001	T
MYOM3	127294	genome.wustl.edu	37	1	24417405	24417405	+	Silent	SNP	G	G	T	rs201898557	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:24417405G>T	ENST00000374434.3	-	12	1476	c.1314C>A	c.(1312-1314)gtC>gtA	p.V438V	MYOM3_ENST00000329601.7_Silent_p.V438V|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.V439V	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	438	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.V438V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTGACCTTCGACGAGGCCTT	0.632																																																	1	Substitution - coding silent(1)	endometrium(1)											102.0	112.0	109.0					1																	24417405		2080	4202	6282	SO:0001819	synonymous_variant	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1314C>A	1.37:g.24417405G>T			A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V439	ENST00000374434.3	37	c.1317	CCDS41281.1	1																																																																																			MYOM3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142661		0.632	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2		0.00	47	0	G	NM_152372		24417405	-1			no_errors	ENST00000330966	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.000	T
NAV3	89795	genome.wustl.edu	37	12	78362475	78362475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:78362475C>T	ENST00000397909.2	+	5	837	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.Q222*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Q222*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Q222*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	222						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCAAGATATGCAGTCCAGGTA	0.428										HNSCC(70;0.22)																																							0													51.0	51.0	51.0					12																	78362475		1958	4163	6121	SO:0001587	stop_gained	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.664C>T	12.37:g.78362475C>T	ENSP00000381007:p.Gln222*		Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.Q222*	ENST00000397909.2	37	c.664		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.563136|8.563136	0.98863|0.98863	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000550503|ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|.	.|.	.|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.36519	.|U	.|0.002543	T|.	0.75361|.	0.3839|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71344|.	-0.4621|.	4|.	.|0.36615	.|T	.|0.2	-12.2949|-12.2949	20.1588|20.1588	0.98128|0.98128	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	68|222	.|.	.|ENSP00000228327:Q222X	A|Q	+|+	2|1	0|0	NAV3|NAV3	76886606|76886606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.282000|7.282000	0.78630|0.78630	2.767000|2.767000	0.95098|0.95098	0.637000|0.637000	0.83480|0.83480	GCA|CAG	NAV3	-	superfamily_CH-domain	ENSG00000067798		0.428	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0.00	21	0	C	NM_001024383		78362475	+1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	nonsense	38.10	13	8	SNP	1.000	T
NCOR2	9612	genome.wustl.edu	37	12	124827641	124827641	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:124827641G>A	ENST00000405201.1	-	33	4846	c.4846C>T	c.(4846-4848)Cgg>Tgg	p.R1616W	NCOR2_ENST00000356219.3_Missense_Mutation_p.R1623W|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1177W|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1606W|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1606W|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1607W			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1624					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCACGCCCCGAAGCAGGTGC	0.667																																																	0													39.0	48.0	45.0					12																	124827641		2155	4248	6403	SO:0001583	missense	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4846C>T	12.37:g.124827641G>A	ENSP00000384018:p.Arg1616Trp		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1623W	ENST00000405201.1	37	c.4867	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005311	0.35415	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.27	4.35	0.52113	.	0.075915	0.56097	D	0.000031	T	0.71702	0.3371	M	0.73962	2.25	0.41066	D	0.985418	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.997	T	0.76440	-0.2958	10	0.87932	D	0	-33.0727	15.2726	0.73717	0.0:0.0:0.8593:0.1407	.	1606;1607;1616	C9J0Q5;C9J239;C9JFD3	.;.;.	W	1616;1606;1623;1607;1615;1177;1606	ENSP00000384018:R1616W;ENSP00000384202:R1606W;ENSP00000348551:R1623W;ENSP00000380513:R1607W;ENSP00000385618:R1177W;ENSP00000400281:R1606W	ENSP00000348551:R1623W	R	-	1	2	NCOR2	123393594	1.000000	0.71417	0.837000	0.33122	0.017000	0.09413	7.075000	0.76798	2.440000	0.82611	0.655000	0.94253	CGG	NCOR2	-	NULL	ENSG00000196498		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0.00	52	0	G	NM_006312		124827641	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	33.33	29	15	SNP	0.981	A
NCOR2	9612	genome.wustl.edu	37	12	124832396	124832396	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:124832396G>T	ENST00000405201.1	-	30	4047	c.4047C>A	c.(4045-4047)caC>caA	p.H1349Q	NCOR2_ENST00000356219.3_Missense_Mutation_p.H1356Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.H910Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.H1339Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.H1339Q|NCOR2_ENST00000397355.1_Missense_Mutation_p.H1340Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1357					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCGGATGTGGTGCTGCTCTT	0.657											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83.0	94.0	90.0					12																	124832396		2173	4259	6432	SO:0001583	missense	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4047C>A	12.37:g.124832396G>T	ENSP00000384018:p.His1349Gln	1537	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.H1356Q	ENST00000405201.1	37	c.4068	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	g	9.330	1.060347	0.19987	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.5	5.11	0.0377	0.14197	.	0.055177	0.64402	D	0.000001	T	0.38558	0.1045	N	0.16903	0.455	0.32283	N	0.567289	B;D;B	0.71674	0.349;0.998;0.42	B;D;B	0.75484	0.123;0.986;0.187	T	0.44112	-0.9349	10	0.31617	T	0.26	-35.9918	6.1065	0.20077	0.498:0.0:0.377:0.125	.	1339;1340;1349	C9J0Q5;C9J239;C9JFD3	.;.;.	Q	1349;1339;1356;1340;1348;910;1339;1357	ENSP00000384018:H1349Q;ENSP00000384202:H1339Q;ENSP00000348551:H1356Q;ENSP00000380513:H1340Q;ENSP00000385618:H910Q;ENSP00000400281:H1339Q;ENSP00000402808:H1357Q	ENSP00000348551:H1356Q	H	-	3	2	NCOR2	123398349	0.996000	0.38824	0.992000	0.48379	0.554000	0.35429	0.431000	0.21444	-0.051000	0.13334	-0.215000	0.12644	CAC	NCOR2	-	NULL	ENSG00000196498		0.657	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0.00	58	0	G	NM_006312		124832396	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.950	T
NDST2	8509	genome.wustl.edu	37	10	75566718	75566718	+	Intron	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:75566718G>A	ENST00000309979.6	-	4	1650				NDST2_ENST00000299641.4_Intron|RP11-574K11.31_ENST00000603027.1_Intron			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CCACCCATGCGAACCTAAATT	0.507																																																	0																																										SO:0001627	intron_variant	0			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1093+147C>T	10.37:g.75566718G>A			Q2TB32|Q59H89	RNA	SNP	-	NULL	ENST00000309979.6	37	NULL	CCDS7335.1	10																																																																																			NDST2	-	-	ENSG00000166507		0.507	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	-	0.00	20	0	G	NM_003635		75566718	-1	tier1	-	no_errors	ENST00000463410	ensembl	human	known	74_37	rna	58.33	5	7	SNP	0.000	A
NHSL2	340527	genome.wustl.edu	37	X	71357028	71357028	+	Intron	SNP	G	G	A	rs199659776		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:71357028G>A	ENST00000373677.1	+	2	1056				NHSL2_ENST00000510661.1_Intron|NHSL2_ENST00000540800.1_Missense_Mutation_p.R282Q|NHSL2_ENST00000535692.1_Intron			Q5HYW2	NHSL2_HUMAN	NHS-like 2											NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ACCCTGAGGCGGAGGCGGACC	0.522																																																	0								G	GLN/ARG	0,1209		0,0,0,517,175	101.0	91.0	94.0		845	4.6	1.0	X		94	2,2389		0,1,1,799,790	yes	missense	NHSL2	NM_001013627.2	43	0,1,1,1316,965	AA,AG,A,GG,G		0.0836,0.0,0.0556	probably-damaging	282/1226	71357028	2,3598	692	1591	2283	SO:0001627	intron_variant	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.-206-1263G>A	X.37:g.71357028G>A			B2RN94	Missense_Mutation	SNP	NULL	p.R282Q	ENST00000373677.1	37	c.845		X	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025920	0.93518	0.0	8.36E-4	ENSG00000204131	ENST00000540800	T	0.69306	-0.39	5.48	4.62	0.57501	.	.	.	.	.	T	0.67173	0.2865	L	0.49126	1.545	0.80722	D	1	D	0.67145	0.996	P	0.50537	0.643	T	0.68804	-0.5312	9	0.59425	D	0.04	.	11.1397	0.48396	0.0918:0.0:0.9082:0.0	.	282	F5H593	.	Q	282	ENSP00000444617:R282Q	ENSP00000444617:R282Q	R	+	2	0	NHSL2	71273753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.505000	0.73708	1.094000	0.41399	0.529000	0.55759	CGG	NHSL2	-	NULL	ENSG00000204131		0.522	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	-	0.00	20	0	G	NM_001013627		71357028	+1	tier1	rs199659776	no_errors	ENST00000540800	ensembl	human	known	74_37	missense	84.62	4	22	SNP	1.000	A
NIN	51199	genome.wustl.edu	37	14	51273538	51273539	+	Splice_Site	INS	-	-	A	rs150006561	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:51273538_51273539insA	ENST00000382041.3	-	4	374		c.e4-2		NIN_ENST00000453196.1_Splice_Site|NIN_ENST00000389868.3_Splice_Site|NIN_ENST00000324330.9_Splice_Site|NIN_ENST00000530997.2_Splice_Site|NIN_ENST00000245441.5_Splice_Site|NIN_ENST00000382043.4_Splice_Site	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AAAATGTACCTAAAAAAAATTA	0.342			T	PDGFRB	MPD								AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	15	0.00299521	0.0113	0.0	5008	,	,		17488	0.0		0.0	False		,,,				2504	0.0							Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0									,,,	28,4234		0,28,2103					,,,	5.6	1.0		dbSNP_134	51	5,8249		0,5,4122	no	splice-3,splice-3,splice-3,splice-3	NIN	NM_182946.1,NM_182944.2,NM_020921.3,NM_016350.4	,,,	0,33,6225	A1A1,A1R,RR		0.0606,0.657,0.2637	,,,	,,,		33,12483				SO:0001630	splice_region_variant	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.184-2->T	14.37:g.51273546_51273546dupA			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Splice_Site	INS	-	e2-2	ENST00000382041.3	37	c.184-3_184-2	CCDS32079.1	14																																																																																			NIN	-	-	ENSG00000100503		0.342	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2		0.00	20	0	-	NM_182946	Intron	51273539	-1	tier1		no_errors	ENST00000245441	ensembl	human	known	74_37	splice_site_ins	27.59	21	8	INS	0.997:0.854	A
NID2	22795	genome.wustl.edu	37	14	52481775	52481775	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:52481775C>T	ENST00000216286.5	-	15	3246	c.3247G>A	c.(3247-3249)Gcg>Acg	p.A1083T	NID2_ENST00000541773.1_Missense_Mutation_p.A982T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1083	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGCTTACACGCAGGGGTGGTG	0.637																																																	0													22.0	21.0	22.0					14																	52481775		2203	4300	6503	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3247G>A	14.37:g.52481775C>T	ENSP00000216286:p.Ala1083Thr		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.A1083T	ENST00000216286.5	37	c.3247	CCDS9706.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.80|13.80	2.346334|2.346334	0.41599|0.41599	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707|ENST00000556572	T;T|.	0.62639|.	0.01;0.01|.	5.67|5.67	2.72|2.72	0.32119|0.32119	Thyroglobulin type-1 (4);|.	0.356155|.	0.31697|.	N|.	0.007205|.	T|T	0.47002|0.47002	0.1422|0.1422	L|L	0.41573|0.41573	1.285|1.285	0.34447|0.34447	D|D	0.700249|0.700249	B;B;P;B|.	0.36222|.	0.243;0.275;0.544;0.082|.	B;B;B;B|.	0.34093|.	0.124;0.096;0.175;0.117|.	T|T	0.54351|0.54351	-0.8307|-0.8307	10|5	0.13470|.	T|.	0.59|.	.|.	7.958|7.958	0.30055|0.30055	0.0:0.635:0.205:0.16|0.0:0.635:0.205:0.16	.|.	677;982;1085;1083|.	E7EPP3;Q14112-2;Q5CZI2;Q14112|.	.;.;.;NID2_HUMAN|.	T|Y	1083;677;982;1085|351	ENSP00000216286:A1083T;ENSP00000443730:A982T|.	ENSP00000216286:A1083T|.	A|C	-|-	1|2	0|0	NID2|NID2	51551525|51551525	0.902000|0.902000	0.30710|0.30710	0.668000|0.668000	0.29813|0.29813	0.887000|0.887000	0.51463|0.51463	1.512000|1.512000	0.35812|0.35812	0.758000|0.758000	0.33059|0.33059	0.655000|0.655000	0.94253|0.94253	GCG|TGC	NID2	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000087303		0.637	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	-	0.00	31	0	C			52481775	-1	tier1	-	no_errors	ENST00000216286	ensembl	human	known	74_37	missense	40.54	22	15	SNP	0.917	T
NINL	22981	genome.wustl.edu	37	20	25450630	25450631	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:25450630_25450631delTG	ENST00000278886.6	-	18	3422_3423	c.3349_3350delCA	c.(3349-3351)cagfs	p.Q1117fs	NINL_ENST00000422516.1_Frame_Shift_Del_p.Q768fs	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1117					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCCTTACCTCTGTGCATCGTGA	0.5																																																	0																																										SO:0001589	frameshift_variant	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3349_3350delCA	20.37:g.25450632_25450633delTG	ENSP00000278886:p.Gln1117fs		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Frame_Shift_Del	DEL	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q1117fs	ENST00000278886.6	37	c.3350_3349	CCDS33452.1	20																																																																																			NINL	-	NULL	ENSG00000101004		0.500	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3		0.00	31	0	TG	NM_025176		25450631	-1	tier1		no_errors	ENST00000278886	ensembl	human	known	74_37	frame_shift_del	26.92	19	7	DEL	0.990:0.933	-
NKX2-6	137814	genome.wustl.edu	37	8	23560349	23560349	+	Missense_Mutation	SNP	G	G	A	rs372045387		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:23560349G>A	ENST00000325017.3	-	2	520	c.521C>T	c.(520-522)aCg>aTg	p.T174M	NKX2-6_ENST00000418222.1_Missense_Mutation_p.T92M	NM_001136271.2	NP_001129743.2	A6NCS4	NKX26_HUMAN	NK2 homeobox 6	174					atrial cardiac muscle cell development (GO:0055014)|cell differentiation (GO:0030154)|digestive tract development (GO:0048565)|embryonic heart tube development (GO:0035050)|hypothalamus development (GO:0021854)|negative regulation of apoptotic process (GO:0043066)|pericardium development (GO:0060039)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTGACCTGCGTGGACGTGAG	0.662																																																	0								G	MET/THR	0,1384		0,0,692	42.0	38.0	40.0		275	4.0	1.0	8		40	2,3180		0,2,1589	no	missense	NKX2-6	NM_001136271.2	81	0,2,2281	AA,AG,GG		0.0629,0.0,0.0438	probably-damaging	92/220	23560349	2,4564	692	1591	2283	SO:0001583	missense	0			CN272646		8p21.2	2012-03-09	2011-06-01			ENSG00000180053		"""Homeoboxes / ANTP class : NKL subclass"""	32940	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	611770	"""NK2 transcription factor related, locus 6 (Drosophila)"""			15649947	Standard	NM_001136271		Approved	CSX2, NKX4-2	uc011kzy.3	A6NCS4		ENST00000325017.3:c.521C>T	8.37:g.23560349G>A	ENSP00000320089:p.Thr174Met			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.T174M	ENST00000325017.3	37	c.521		8	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921399	0.73213	0.0	6.29E-4	ENSG00000180053	ENST00000325017;ENST00000418222	D;D	0.96396	-4.0;-4.0	4.04	4.04	0.47022	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.51477	D	0.000092	D	0.98150	0.9389	M	0.88181	2.935	0.39991	D	0.975048	D	0.89917	1.0	D	0.91635	0.999	D	0.99572	1.0971	10	0.87932	D	0	.	13.7202	0.62723	0.0:0.0:1.0:0.0	.	174	A6NCS4	NKX26_HUMAN	M	174;92	ENSP00000320089:T174M;ENSP00000402231:T92M	ENSP00000320089:T174M	T	-	2	0	NKX2-6	23616294	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.512000	0.81728	2.078000	0.62432	0.313000	0.20887	ACG	NKX2-6	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000180053		0.662	NKX2-6-001	KNOWN	basic|appris_principal	protein_coding	NKX2-6	HGNC	protein_coding	OTTHUMT00000376057.4	-	0.00	89	0	G	NM_001136271		23560349	-1	tier1	-	no_errors	ENST00000325017	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	A
NPEPL1	79716	genome.wustl.edu	37	20	57282250	57282250	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:57282250C>G	ENST00000356091.6	+	7	1182	c.894C>G	c.(892-894)atC>atG	p.I298M	NPEPL1_ENST00000525817.1_Missense_Mutation_p.I250M|NPEPL1_ENST00000525967.1_Missense_Mutation_p.I270M|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	298						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GAGCCGCAATCAAGCAGGTGA	0.687																																																	0													11.0	17.0	15.0					20																	57282250		1973	4063	6036	SO:0001583	missense	0			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.894C>G	20.37:g.57282250C>G	ENSP00000348395:p.Ile298Met		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	p.I298M	ENST00000356091.6	37	c.894	CCDS46621.1	20	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505276	0.26949	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.42900	0.96;0.96;0.96	4.46	3.49	0.39957	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.283555	0.33364	N	0.004999	T	0.16896	0.0406	N	0.00621	-1.32	0.36530	D	0.870659	B;B;B;P	0.40931	0.162;0.134;0.389;0.733	B;B;B;B	0.43680	0.315;0.21;0.427;0.424	T	0.30650	-0.9971	10	0.72032	D	0.01	-23.6053	7.5779	0.27948	0.2027:0.6285:0.1688:0.0	.	298;250;270;298	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	M	270;250;298	ENSP00000434810:I270M;ENSP00000437112:I250M;ENSP00000348395:I298M	ENSP00000348395:I298M	I	+	3	3	NPEPL1	56715657	0.998000	0.40836	0.979000	0.43373	0.555000	0.35460	0.511000	0.22739	0.831000	0.34780	0.462000	0.41574	ATC	NPEPL1	-	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	ENSG00000215440		0.687	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	-	0.00	106	0	C	NM_024663		57282250	+1	tier1	-	no_errors	ENST00000356091	ensembl	human	known	74_37	missense	29.13	73	30	SNP	1.000	G
NRP1	8829	genome.wustl.edu	37	10	33545244	33545244	+	Splice_Site	SNP	C	C	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:33545244C>G	ENST00000265371.4	-	6	1339	c.814G>C	c.(814-816)Gat>Cat	p.D272H	NRP1_ENST00000395995.1_Splice_Site_p.D272H|NRP1_ENST00000374875.1_Splice_Site_p.D91H|NRP1_ENST00000374867.2_Splice_Site_p.D272H|NRP1_ENST00000374821.5_Splice_Site_p.D272H|NRP1_ENST00000374816.3_Splice_Site_p.D272H|NRP1_ENST00000374822.4_Splice_Site_p.D272H|NRP1_ENST00000374823.5_Splice_Site_p.D272H|NRP1_ENST00000432372.2_Splice_Site_p.D272H			O14786	NRP1_HUMAN	neuropilin 1	272					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)	AAACACTGACCTTCTGAGACA	0.443																																					Melanoma(104;886 1489 44640 45944 51153)												0													118.0	113.0	115.0					10																	33545244		2203	4300	6503	SO:0001630	splice_region_variant	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.814+1G>C	10.37:g.33545244C>G			B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.D272H	ENST00000265371.4	37	c.814	CCDS7177.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.094438|4.094438	0.76870|0.76870	.|.	.|.	ENSG00000099250|ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818|ENST00000455749	D;D;D;D;D;D;D;D|.	0.94417|.	-2.29;-3.42;-2.29;-2.31;-2.64;-2.61;-2.66;-2.64|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72771|0.72771	0.3502|0.3502	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.89917|.	0.998;0.97;0.999;0.964;1.0;1.0;0.998;0.999;0.996|.	D;P;D;P;D;D;D;D;D|.	0.91635|.	0.955;0.868;0.955;0.737;0.999;0.997;0.955;0.955;0.919|.	T|T	0.67860|0.67860	-0.5561|-0.5561	9|5	.|.	.|.	.|.	-26.7576|-26.7576	20.1731|20.1731	0.98165|0.98165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	272;272;272;272;272;272;272;91;272|.	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6|.	.;.;.;.;.;.;NRP1_HUMAN;.;.|.	H|T	272;91;272;272;272;272;272;272;91|72	ENSP00000265371:D272H;ENSP00000364009:D91H;ENSP00000364001:D272H;ENSP00000379317:D272H;ENSP00000363955:D272H;ENSP00000363954:D272H;ENSP00000363956:D272H;ENSP00000363949:D272H|.	.|.	D|R	-|-	1|2	0|0	NRP1|NRP1	33585250|33585250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	4.778000|4.778000	0.62368|0.62368	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GAT|AGA	NRP1	-	pirsf_Neuropilin	ENSG00000099250		0.443	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	-	0.00	16	0	C		Missense_Mutation	33545244	-1	tier1	-	no_errors	ENST00000265371	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	G
NSMCE1	197370	genome.wustl.edu	37	16	27238129	27238129	+	Missense_Mutation	SNP	C	C	T	rs376178703		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:27238129C>T	ENST00000361439.4	-	6	611	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	171					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R171Q(1)		endometrium(2)|large_intestine(2)|lung(3)	7						CAGGATGGCCCGGCCGTGCAG	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20401	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	endometrium(1)						C	GLN/ARG	0,4164		0,0,2082	113.0	121.0	118.0		512	5.4	1.0	16		118	1,8409		0,1,4204	no	missense	NSMCE1	NM_145080.3	43	0,1,6286	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	171/267	27238129	1,12573	2082	4205	6287	SO:0001583	missense	0			AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.512G>A	16.37:g.27238129C>T	ENSP00000355077:p.Arg171Gln		D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING	p.R171Q	ENST00000361439.4	37	c.512	CCDS10628.2	16	.	.	.	.	.	.	.	.	.	.	C	35	5.459023	0.96240	0.0	1.19E-4	ENSG00000169189	ENST00000361439	T	0.58060	0.36	5.42	5.42	0.78866	.	0.054186	0.85682	D	0.000000	T	0.68723	0.3032	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70633	-0.4818	10	0.72032	D	0.01	-26.2885	17.784	0.88532	0.0:1.0:0.0:0.0	.	171	Q8WV22	NSE1_HUMAN	Q	171	ENSP00000355077:R171Q	ENSP00000355077:R171Q	R	-	2	0	NSMCE1	27145630	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.981000	0.70524	2.529000	0.85273	0.561000	0.74099	CGG	NSMCE1	-	pfam_Nse1	ENSG00000169189		0.617	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE1	HGNC	protein_coding	OTTHUMT00000254577.3		0.00	42	0	C	NM_145080		27238129	-1			no_errors	ENST00000361439	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T
NUMB	8650	genome.wustl.edu	37	14	73743854	73743854	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:73743854A>G	ENST00000355058.3	-	13	1666	c.1388T>C	c.(1387-1389)cTg>cCg	p.L463P	NUMB_ENST00000356296.4_Missense_Mutation_p.L415P|NUMB_ENST00000544991.3_Missense_Mutation_p.L268P|NUMB_ENST00000557597.1_Missense_Mutation_p.L452P|NUMB_ENST00000555238.1_Missense_Mutation_p.L463P|NUMB_ENST00000556772.1_Missense_Mutation_p.L319P|NUMB_ENST00000535282.1_Missense_Mutation_p.L452P|NUMB_ENST00000359560.3_Missense_Mutation_p.L452P|NUMB_ENST00000559312.1_Missense_Mutation_p.L268P|NUMB_ENST00000555738.2_Missense_Mutation_p.L306P|NUMB_ENST00000555394.1_Missense_Mutation_p.L415P|NUMB_ENST00000554546.1_Missense_Mutation_p.L404P|NUMB_ENST00000454166.4_Missense_Mutation_p.L317P|NUMB_ENST00000560335.1_Missense_Mutation_p.L317P|NUMB_ENST00000554521.2_Missense_Mutation_p.L257P			P49757	NUMB_HUMAN	numb homolog (Drosophila)	463					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		AACTGGCTGCAGAGGAGCAGC	0.612																																																	0													49.0	47.0	48.0					14																	73743854		2203	4300	6503	SO:0001583	missense	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1388T>C	14.37:g.73743854A>G	ENSP00000347169:p.Leu463Pro		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.L463P	ENST00000355058.3	37	c.1388	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823664	0.32237	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T;T;T	0.55413	0.53;0.52;0.97;0.97;1.55;0.97;0.97;0.52;0.55;0.56;0.58;0.54;0.97	5.65	5.65	0.86999	.	0.508381	0.20173	N	0.097690	T	0.36799	0.0980	N	0.08118	0	0.58432	D	0.999992	B;B;B;B;B;P;P;P;P	0.48016	0.004;0.0;0.0;0.0;0.0;0.787;0.787;0.713;0.904	B;B;B;B;B;P;P;P;B	0.49999	0.004;0.001;0.001;0.001;0.001;0.544;0.544;0.628;0.391	T	0.18209	-1.0344	10	0.27082	T	0.32	-7.5811	5.5728	0.17206	0.8059:0.0:0.1941:0.0	.	161;306;317;257;268;404;415;452;463	B1P2N9;B1P2N6;B1P2N5;B1P2N8;B1P2N7;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;NUMB_HUMAN	P	404;415;452;463;319;463;452;415;268;317;306;257;452	ENSP00000452416:L404P;ENSP00000348644:L415P;ENSP00000451117:L452P;ENSP00000451300:L463P;ENSP00000451513:L319P;ENSP00000347169:L463P;ENSP00000352563:L452P;ENSP00000451625:L415P;ENSP00000446001:L268P;ENSP00000394025:L317P;ENSP00000452069:L306P;ENSP00000450817:L257P;ENSP00000441258:L452P	ENSP00000347169:L463P	L	-	2	0	NUMB	72813607	0.993000	0.37304	1.000000	0.80357	0.967000	0.64934	2.143000	0.42187	2.371000	0.80710	0.533000	0.62120	CTG	NUMB	-	pirsf_Numb/numb-like	ENSG00000133961		0.612	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1		0.00	44	0	A			73743854	-1			no_errors	ENST00000355058	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.999	G
NUP98	4928	genome.wustl.edu	37	11	3723694	3723694	+	Splice_Site	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:3723694G>A	ENST00000324932.7	-	23	3931	c.3511C>T	c.(3511-3513)Ccc>Tcc	p.P1171S	NUP98_ENST00000355260.3_Splice_Site_p.P1171S|NUP98_ENST00000359171.4_Splice_Site_p.P1171S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1188					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTGACTCACGGTTTAACAGCT	0.418			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													123.0	114.0	117.0					11																	3723694		2201	4298	6499	SO:0001630	splice_region_variant	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3512+1C>T	11.37:g.3723694G>A			Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.P1171S	ENST00000324932.7	37	c.3511	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	G	4.496	0.091987	0.08632	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.49	4.36	0.52297	.	0.265381	0.37906	N	0.001896	T	0.17066	0.0410	N	0.01219	-0.95	0.35245	D	0.778132	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.15065	-1.0450	9	0.09338	T	0.73	-1.6333	9.3644	0.38215	0.8489:0.0:0.1511:0.0	.	1171;1171	P52948-2;P52948-5	.;.	S	1171	.	ENSP00000316032:P1171S	P	-	1	0	NUP98	3680270	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.626000	0.46460	0.917000	0.36895	-0.339000	0.08088	CCC	NUP98	-	NULL	ENSG00000110713		0.418	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	-	0.00	36	0	G	NM_016320	Missense_Mutation	3723694	-1	tier1	-	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	8.51	42	4	SNP	1.000	A
OLFM1	10439	genome.wustl.edu	37	9	138011390	138011390	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:138011390G>A	ENST00000371793.3	+	6	1075	c.824G>A	c.(823-825)cGt>cAt	p.R275H	OLFM1_ENST00000371796.3_Missense_Mutation_p.R248H|OLFM1_ENST00000252854.4_Missense_Mutation_p.R257H	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	275	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CGCTTCGTACGTGAGTACAAG	0.562																																																	0													128.0	115.0	119.0					9																	138011390		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.824G>A	9.37:g.138011390G>A	ENSP00000360858:p.Arg275His		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.R275H	ENST00000371793.3	37	c.824		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.418866|4.418866	0.83559|0.83559	.|.	.|.	ENSG00000130558|ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793;ENST00000539877|ENST00000545657	D;D;D;D|.	0.88975|.	-2.45;-2.45;-2.45;-2.45|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Olfactomedin-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77532|0.77532	0.4144|0.4144	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.74023|.	0.98;0.982|.	T|T	0.78505|0.78505	-0.2178|-0.2178	10|5	0.45353|.	T|.	0.12|.	.|.	18.4324|18.4324	0.90630|0.90630	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	275;257|.	Q99784;Q6IMJ8|.	NOE1_HUMAN;.|.	H|M	257;248;275;172|99	ENSP00000252854:R257H;ENSP00000360861:R248H;ENSP00000360858:R275H;ENSP00000443806:R172H|.	ENSP00000252854:R257H|.	R|V	+|+	2|1	0|0	OLFM1|OLFM1	137151211|137151211	1.000000|1.000000	0.71417|0.71417	0.373000|0.373000	0.26003|0.26003	0.865000|0.865000	0.49528|0.49528	9.571000|9.571000	0.98176|0.98176	2.357000|2.357000	0.79964|0.79964	0.561000|0.561000	0.74099|0.74099	CGT|GTG	OLFM1	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000130558		0.562	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0.00	20	0	G	NM_014279		138011390	+1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	58.33	5	7	SNP	1.000	A
OLFM4	10562	genome.wustl.edu	37	13	53624719	53624719	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:53624719G>T	ENST00000219022.2	+	5	1424	c.1346G>T	c.(1345-1347)aGa>aTa	p.R449I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	449	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.R449K(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATGAACACCAGAACAGAAGAG	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											131.0	122.0	125.0					13																	53624719		2203	4300	6503	SO:0001583	missense	0			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1346G>T	13.37:g.53624719G>T	ENSP00000219022:p.Arg449Ile		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.R449I	ENST00000219022.2	37	c.1346	CCDS9440.1	13	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389771	0.25118	.	.	ENSG00000102837	ENST00000219022	D	0.89485	-2.52	5.83	-1.1	0.09872	Olfactomedin-like (3);	0.525015	0.23541	N	0.047069	D	0.89515	0.6737	M	0.83483	2.645	0.24566	N	0.99395	B	0.32467	0.372	B	0.39771	0.309	T	0.82845	-0.0256	10	0.52906	T	0.07	.	12.353	0.55159	0.4715:0.0:0.5285:0.0	.	449	Q6UX06	OLFM4_HUMAN	I	449	ENSP00000219022:R449I	ENSP00000219022:R449I	R	+	2	0	OLFM4	52522720	0.384000	0.25164	0.065000	0.19835	0.315000	0.28087	0.194000	0.17135	-0.634000	0.05538	-0.970000	0.02610	AGA	OLFM4	-	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	ENSG00000102837		0.413	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	HGNC	protein_coding	OTTHUMT00000045112.2		0.00	25	0	G	NM_006418		53624719	+1			no_errors	ENST00000219022	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.043	T
OR2AE1	81392	genome.wustl.edu	37	7	99473789	99473789	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:99473789T>C	ENST00000316368.2	-	1	891	c.868A>G	c.(868-870)Act>Gct	p.T290A		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	290						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)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TTCCGGAGAGTATAAATCAGA	0.463																																																	0													112.0	117.0	115.0					7																	99473789		2203	4300	6503	SO:0001583	missense	0			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.868A>G	7.37:g.99473789T>C	ENSP00000313936:p.Thr290Ala		B2RPD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T290A	ENST00000316368.2	37	c.868	CCDS34696.1	7	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612979	0.28712	.	.	ENSG00000244623	ENST00000316368	T	0.35605	1.3	3.56	3.56	0.40772	.	0.000000	0.39615	N	0.001315	T	0.43122	0.1233	L	0.28344	0.845	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.15925	-1.0420	10	0.87932	D	0	.	10.7203	0.46036	0.0:0.0:0.0:1.0	.	290	Q8NHA4	O2AE1_HUMAN	A	290	ENSP00000313936:T290A	ENSP00000313936:T290A	T	-	1	0	OR2AE1	99311725	0.008000	0.16893	0.048000	0.18961	0.352000	0.29268	0.832000	0.27490	1.851000	0.53745	0.317000	0.21355	ACT	OR2AE1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000244623		0.463	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AE1	HGNC	protein_coding	OTTHUMT00000345053.1	-	0.00	21	0	T			99473789	-1	tier1	-	no_errors	ENST00000316368	ensembl	human	known	74_37	missense	69.23	16	36	SNP	0.292	C
OR52N1	79473	genome.wustl.edu	37	11	5809669	5809669	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:5809669C>T	ENST00000317078.1	-	1	377	c.378G>A	c.(376-378)gtG>gtA	p.V126V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	126						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)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGCAGATGGCCACACAGTGGT	0.507																																																	0													158.0	136.0	144.0					11																	5809669		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.378G>A	11.37:g.5809669C>T			Q6IFF6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.V126	ENST00000317078.1	37	c.378	CCDS31398.1	11																																																																																			OR52N1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181001		0.507	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1		0.00	38	0	C	NM_001001913		5809669	-1			no_errors	ENST00000317078	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.999	T
OR4C6	219432	genome.wustl.edu	37	11	55432736	55432736	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:55432736A>T	ENST00000314259.3	+	1	123	c.94A>T	c.(94-96)Atg>Ttg	p.M32L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTTTCTTGTCATGTATGTAGC	0.378																																																	0													210.0	192.0	198.0					11																	55432736		2200	4296	6496	SO:0001583	missense	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.94A>T	11.37:g.55432736A>T	ENSP00000324769:p.Met32Leu		B2RP11|Q6IFD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M32L	ENST00000314259.3	37	c.94	CCDS31506.1	11	.	.	.	.	.	.	.	.	.	.	A	9.056	0.993278	0.19043	.	.	ENSG00000181903	ENST00000314259	T	0.00416	7.51	3.83	1.16	0.20824	.	0.466770	0.18113	N	0.151292	T	0.00178	0.0005	N	0.11000	0.08	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.31833	-0.9929	10	0.18276	T	0.48	.	1.9212	0.03307	0.5727:0.1677:0.0975:0.1621	.	32	Q8NH72	OR4C6_HUMAN	L	32	ENSP00000324769:M32L	ENSP00000324769:M32L	M	+	1	0	OR4C6	55189312	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-1.100000	0.03339	0.351000	0.24027	0.444000	0.29173	ATG	OR4C6	-	prints_GPCR_Rhodpsn	ENSG00000181903		0.378	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1		0.00	19	0	A	NM_001004704		55432736	+1			no_errors	ENST00000314259	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.000	T
OR8H2	390151	genome.wustl.edu	37	11	55872537	55872537	+	Missense_Mutation	SNP	A	A	G	rs61746549	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:55872537A>G	ENST00000313503.1	+	1	19	c.19A>G	c.(19-21)Aac>Gac	p.N7D		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N7D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TAGAAGGAATAACACAAATGT	0.438										HNSCC(53;0.14)			N|||	4	0.000798722	0.0008	0.0014	5008	,	,		18426	0.0		0.0	False		,,,				2504	0.002																1	Substitution - Missense(1)	kidney(1)											196.0	187.0	190.0					11																	55872537		2201	4296	6497	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.19A>G	11.37:g.55872537A>G	ENSP00000323982:p.Asn7Asp		Q6IFC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N7D	ENST00000313503.1	37	c.19	CCDS31518.1	11	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	7.027	0.559788	0.13436	.	.	ENSG00000181767	ENST00000313503	T	0.00509	6.91	3.74	-2.34	0.06704	.	1.169330	0.06223	N	0.687064	T	0.00300	0.0009	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41805	-0.9488	10	0.30854	T	0.27	.	0.2174	0.00164	0.3775:0.1477:0.1868:0.288	rs61746549	7	Q8N162	OR8H2_HUMAN	D	7	ENSP00000323982:N7D	ENSP00000323982:N7D	N	+	1	0	OR8H2	55629113	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.679000	0.01940	-0.566000	0.06054	-1.639000	0.00775	AAC	OR8H2	-	NULL	ENSG00000181767		0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1		0.00	71	0	A	NM_001005200		55872537	+1			no_errors	ENST00000313503	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.004	G
OVOL2	58495	genome.wustl.edu	37	20	18004946	18004946	+	3'UTR	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:18004946G>T	ENST00000278780.6	-	0	1404				OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2						angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACCATAAAATGATGATCTCTC	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.*334C>A	20.37:g.18004946G>T			Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	RNA	SNP	-	NULL	ENST00000278780.6	37	NULL	CCDS13132.1	20																																																																																			OVOL2	-	-	ENSG00000125850		0.353	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL2	HGNC	protein_coding	OTTHUMT00000078148.5	-	0.00	48	0	G	NM_021220		18004946	-1	tier1	-	no_errors	ENST00000483661	ensembl	human	known	74_37	rna	5.41	70	4	SNP	0.130	T
P4HA2	8974	genome.wustl.edu	37	5	131546091	131546091	+	Missense_Mutation	SNP	C	C	T	rs201291968		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:131546091C>T	ENST00000401867.1	-	7	1163	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	P4HA2_ENST00000166534.4_Missense_Mutation_p.G199R|P4HA2_ENST00000379104.2_Missense_Mutation_p.G199R|P4HA2_ENST00000379086.1_Missense_Mutation_p.G199R|P4HA2_ENST00000379100.2_Missense_Mutation_p.G199R|P4HA2_ENST00000360568.3_Missense_Mutation_p.G199R			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	199					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.G199W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GCCTCCTCCCCGGCATCAAGC	0.577																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												1	Substitution - Missense(1)	lung(1)											210.0	191.0	197.0					5																	131546091		2203	4300	6503	SO:0001583	missense	0			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.595G>A	5.37:g.131546091C>T	ENSP00000384999:p.Gly199Arg		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G199R	ENST00000401867.1	37	c.595	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896760	0.91962	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054	T;T;T;T;T;T	0.46451	0.88;0.87;0.88;0.87;0.88;0.87	5.92	5.03	0.67393	Tetratricopeptide-like helical (1);	0.090828	0.85682	N	0.000000	T	0.71558	0.3354	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.78892	-0.2025	10	0.62326	D	0.03	-11.3074	16.8976	0.86104	0.0:0.8719:0.1281:0.0	.	199;199	O15460;O15460-2	P4HA2_HUMAN;.	R	199;199;199;199;199;199;199;231	ENSP00000384999:G199R;ENSP00000368379:G199R;ENSP00000166534:G199R;ENSP00000353772:G199R;ENSP00000368398:G199R;ENSP00000368394:G199R	ENSP00000166534:G199R	G	-	1	0	P4HA2	131573990	1.000000	0.71417	0.995000	0.50966	0.860000	0.49131	7.776000	0.85560	1.452000	0.47756	0.467000	0.42956	GGG	P4HA2	-	NULL	ENSG00000072682		0.577	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4		0.00	23	0	C	NM_004199		131546091	-1			no_errors	ENST00000166534	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T
PABPC3	5042	genome.wustl.edu	37	13	25670833	25670833	+	Missense_Mutation	SNP	G	G	A	rs142438880	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:25670833G>A	ENST00000281589.3	+	1	534	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	166	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTAAATGGTCGCAAAGTATTT	0.388													g|||	3	0.000599042	0.0023	0.0	5008	,	,		21850	0.0		0.0	False		,,,				2504	0.0																0								G	HIS/ARG	14,4392	21.2+/-45.6	0,14,2189	112.0	108.0	109.0		497	-0.6	0.1	13	dbSNP_134	109	0,8600		0,0,4300	yes	missense	PABPC3	NM_030979.2	29	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	benign	166/632	25670833	14,12992	2203	4300	6503	SO:0001583	missense	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.497G>A	13.37:g.25670833G>A	ENSP00000281589:p.Arg166His		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.R166H	ENST00000281589.3	37	c.497	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273749	0.23221	0.003177	0.0	ENSG00000151846	ENST00000281589	D	0.92595	-3.07	0.546	-0.566	0.11767	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.130376	0.33477	N	0.004871	D	0.87390	0.6165	M	0.67517	2.055	0.39442	D	0.967264	B	0.26400	0.148	B	0.20384	0.029	T	0.77183	-0.2681	10	0.72032	D	0.01	.	5.0904	0.14706	0.2672:0.0:0.7328:0.0	.	166	Q9H361	PABP3_HUMAN	H	166	ENSP00000281589:R166H	ENSP00000281589:R166H	R	+	2	0	PABPC3	24568833	1.000000	0.71417	0.114000	0.21550	0.027000	0.11550	3.841000	0.55850	-0.382000	0.07870	-0.680000	0.03767	CGC	PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000151846		0.388	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2		0.00	36	0	G	NM_030979		25670833	+1			no_errors	ENST00000281589	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
PAK6	56924	genome.wustl.edu	37	15	40558100	40558100	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:40558100G>A	ENST00000542403.2	+	3	373	c.262G>A	c.(262-264)Gac>Aac	p.D88N	PAK6_ENST00000260404.4_Missense_Mutation_p.D88N|PAK6_ENST00000453867.1_Missense_Mutation_p.D88N|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.D88N|PAK6_ENST00000455577.2_Missense_Mutation_p.D88N|PAK6_ENST00000560346.1_Missense_Mutation_p.D88N	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	88	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)		GCTGCTCAACGACATCCAGAA	0.637																																																	0													39.0	27.0	31.0					15																	40558100		2196	4290	6486	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.262G>A	15.37:g.40558100G>A	ENSP00000439597:p.Asp88Asn		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.D88N	ENST00000542403.2	37	c.262	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	g	22.6	4.306573	0.81247	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.73575	-0.73;-0.73;-0.76;-0.73;-0.73	5.23	5.23	0.72850	.	0.046556	0.85682	D	0.000000	D	0.83677	0.5306	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69142	0.916;0.962	T	0.80656	-0.1285	10	0.25751	T	0.34	.	18.807	0.92041	0.0:0.0:1.0:0.0	.	88;88	Q9NQU5;G5E9R2	PAK6_HUMAN;.	N	88	ENSP00000406873:D88N;ENSP00000401153:D88N;ENSP00000409465:D88N;ENSP00000260404:D88N;ENSP00000439597:D88N	ENSP00000260404:D88N	D	+	1	0	PAK6	38345392	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.810000	0.99221	2.458000	0.83093	0.556000	0.70494	GAC	PAK6	-	NULL	ENSG00000137843		0.637	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	-	0.00	44	0	G			40558100	+1	tier1	-	no_errors	ENST00000260404	ensembl	human	known	74_37	missense	50.00	15	15	SNP	1.000	A
PARD3	56288	genome.wustl.edu	37	10	34420473	34420473	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:34420473C>T	ENST00000374789.3	-	23	3792	c.3467G>A	c.(3466-3468)cGt>cAt	p.R1156H	PARD3_ENST00000350537.4_Missense_Mutation_p.R1110H|PARD3_ENST00000346874.4_Missense_Mutation_p.R1119H|PARD3_ENST00000374790.3_Missense_Mutation_p.R1096H|PARD3_ENST00000545260.1_Missense_Mutation_p.R1066H|PARD3_ENST00000374788.3_Missense_Mutation_p.R1153H|PARD3_ENST00000545693.1_Missense_Mutation_p.R1140H|PARD3_ENST00000374794.3_Missense_Mutation_p.R1044H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1156					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R1156H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGCCTCAGACGCTGTATCCG	0.433																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											205.0	172.0	183.0					10																	34420473		2203	4300	6503	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3467G>A	10.37:g.34420473C>T	ENSP00000363921:p.Arg1156His		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1156H	ENST00000374789.3	37	c.3467	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286361	0.80803	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.16897	2.37;2.35;2.44;2.44;2.37;2.31;2.36;2.38	5.81	5.81	0.92471	.	0.231023	0.43110	D	0.000619	T	0.37625	0.1010	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.997;0.998;0.998;0.998;0.999;0.998;0.997	D;P;P;P;P;D;P;P	0.67103	0.949;0.754;0.817;0.817;0.817;0.927;0.817;0.66	T	0.02444	-1.1158	10	0.72032	D	0.01	.	20.0812	0.97776	0.0:1.0:0.0:0.0	.	1044;1066;1073;1110;1140;1119;1153;1156	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	H	1140;1066;1156;1153;1119;1044;1110;1096	ENSP00000443147:R1140H;ENSP00000440857:R1066H;ENSP00000363921:R1156H;ENSP00000363920:R1153H;ENSP00000340591:R1119H;ENSP00000363926:R1044H;ENSP00000311986:R1110H;ENSP00000363922:R1096H	ENSP00000340591:R1119H	R	-	2	0	PARD3	34460479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.663000	0.54518	2.752000	0.94435	0.557000	0.71058	CGT	PARD3	-	NULL	ENSG00000148498		0.433	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1		0.00	39	0	C	NM_019619		34420473	-1			no_errors	ENST00000374789	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
PCDH20	64881	genome.wustl.edu	37	13	61986565	61986565	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:61986565T>G	ENST00000409186.1	-	5	3772	c.1667A>C	c.(1666-1668)aAg>aCg	p.K556T	PCDH20_ENST00000409204.4_Missense_Mutation_p.K556T			Q8N6Y1	PCD20_HUMAN	protocadherin 20	556	Cadherin 4. {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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGCATACAGCTTAGTCAAAAA	0.418																																																	0													144.0	146.0	145.0					13																	61986565		2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1667A>C	13.37:g.61986565T>G	ENSP00000386653:p.Lys556Thr		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K556T	ENST00000409186.1	37	c.1667	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651508	0.29336	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.48201	0.82;0.82	6.0	6.0	0.97389	.	0.000000	0.64402	D	0.000003	T	0.50034	0.1592	L	0.37897	1.145	0.58432	D	0.999993	D	0.53312	0.959	P	0.55749	0.783	T	0.37888	-0.9686	10	0.07644	T	0.81	.	16.5044	0.84266	0.0:0.0:0.0:1.0	.	556	A8K1K9	.	T	556;556;302	ENSP00000387250:K556T;ENSP00000386653:K556T	ENSP00000351500:K302T	K	-	2	0	PCDH20	60884566	1.000000	0.71417	0.906000	0.35671	0.814000	0.46013	6.114000	0.71560	2.295000	0.77249	0.528000	0.53228	AAG	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000197991		0.418	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	-	0.00	34	0	T	NM_022843		61986565	-1	tier1	-	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	G
PCDHA7	56141	genome.wustl.edu	37	5	140215322	140215322	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:140215322G>A	ENST00000525929.1	+	1	1354	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	PCDHA7_ENST00000378125.3_Missense_Mutation_p.A452T|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A452T(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCCCCGGCGTT	0.677																																					NSCLC(160;258 2013 5070 22440 28951)												2	Substitution - Missense(2)	biliary_tract(2)											64.0	68.0	66.0					5																	140215322		2203	4298	6501	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1354G>A	5.37:g.140215322G>A	ENSP00000436426:p.Ala452Thr		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A452T	ENST00000525929.1	37	c.1354	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109955	0.37242	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.02682	4.2;4.2	4.0	4.0	0.46444	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31519	U	0.007517	T	0.09468	0.0233	M	0.69185	2.1	0.22081	N	0.999376	D;P	0.63880	0.993;0.949	P;P	0.53224	0.721;0.572	T	0.03231	-1.1058	10	0.54805	T	0.06	.	16.5501	0.84470	0.0:0.0:1.0:0.0	.	452;452	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	452	ENSP00000436426:A452T;ENSP00000367365:A452T	ENSP00000367365:A452T	A	+	1	0	PCDHA7	140195506	0.000000	0.05858	0.271000	0.24616	0.033000	0.12548	0.057000	0.14279	1.951000	0.56629	0.298000	0.19748	GCC	PCDHA7	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204963		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0.00	121	0	G	NM_018910		140215322	+1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	74.23	21	72	SNP	0.766	A
PCDHB3	56132	genome.wustl.edu	37	5	140480414	140480414	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:140480414G>A	ENST00000231130.2	+	1	181	c.181G>A	c.(181-183)Gcg>Acg	p.A61T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A61T(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAACTGGCCGCGAGGGGGGC	0.502																																																	1	Substitution - Missense(1)	prostate(1)											59.0	70.0	66.0					5																	140480414		2203	4300	6503	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.181G>A	5.37:g.140480414G>A	ENSP00000231130:p.Ala61Thr		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A61T	ENST00000231130.2	37	c.181	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	G	8.425	0.847361	0.17034	.	.	ENSG00000113205	ENST00000231130	T	0.28666	1.6	4.61	-0.593	0.11667	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.24699	0.0599	M	0.63428	1.95	0.09310	N	1	B	0.24186	0.099	B	0.21917	0.037	T	0.28964	-1.0027	9	0.23302	T	0.38	.	4.38	0.11290	0.2852:0.0:0.4682:0.2466	.	61	Q9Y5E6	PCDB3_HUMAN	T	61	ENSP00000231130:A61T	ENSP00000231130:A61T	A	+	1	0	PCDHB3	140460598	0.000000	0.05858	0.000000	0.03702	0.779000	0.44077	-0.283000	0.08433	-0.112000	0.11979	0.655000	0.94253	GCG	PCDHB3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000113205		0.502	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0.00	21	0	G	NM_018937		140480414	+1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	56.25	6	9	SNP	0.000	A
PDCL2	132954	genome.wustl.edu	37	4	56428612	56428612	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr4:56428612A>T	ENST00000295645.4	-	5	632	c.530T>A	c.(529-531)aTt>aAt	p.I177N		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	177	Thioredoxin fold. {ECO:0000250}.									endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TATAATTCCAATGAATTTGGC	0.313																																																	0													76.0	72.0	73.0					4																	56428612		1803	4071	5874	SO:0001583	missense	0			BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.530T>A	4.37:g.56428612A>T	ENSP00000295645:p.Ile177Asn		A8MWA2|B9ZVQ9	Missense_Mutation	SNP	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	p.I177N	ENST00000295645.4	37	c.530	CCDS47059.1	4	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052179	0.75960	.	.	ENSG00000163440	ENST00000295645	T	0.53857	0.6	5.85	4.65	0.58169	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000002	T	0.72550	0.3474	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77056	-0.2729	10	0.87932	D	0	-31.8886	12.1691	0.54148	0.932:0.0:0.068:0.0	.	177	Q8N4E4	PDCL2_HUMAN	N	177	ENSP00000295645:I177N	ENSP00000295645:I177N	I	-	2	0	PDCL2	56123369	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.644000	0.67902	2.235000	0.73313	0.402000	0.26972	ATT	PDCL2	-	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	ENSG00000163440		0.313	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL2	HGNC	protein_coding	OTTHUMT00000361659.1	-	0.00	32	0	A	NM_152401		56428612	-1	tier1	-	no_errors	ENST00000295645	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T
PDZD4	57595	genome.wustl.edu	37	X	153069776	153069776	+	Missense_Mutation	SNP	G	G	A	rs191427632		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:153069776G>A	ENST00000164640.4	-	8	1533	c.1342C>T	c.(1342-1344)Ccc>Tcc	p.P448S	PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.P339S|PDZD4_ENST00000393758.2_Missense_Mutation_p.P373S	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	448						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)					TGCTTCTTGGGCTCGCTGGCC	0.647																																																	0													34.0	32.0	33.0					X																	153069776		2201	4291	6492	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.1342C>T	X.37:g.153069776G>A	ENSP00000164640:p.Pro448Ser		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P448S	ENST00000164640.4	37	c.1342	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	G	2.052	-0.417456	0.04766	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.03982	3.74;3.74;3.95	4.97	4.97	0.65823	.	0.719615	0.11100	U	0.599749	T	0.03053	0.0090	N	0.11927	0.2	0.29709	N	0.839535	B;B;B;B;B	0.26975	0.021;0.021;0.165;0.038;0.007	B;B;B;B;B	0.19391	0.004;0.016;0.025;0.018;0.004	T	0.22487	-1.0215	10	0.08837	T	0.75	-27.9227	11.387	0.49791	0.0:0.0:0.819:0.181	.	339;454;448;373;352	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	S	448;373;352;339	ENSP00000164640:P448S;ENSP00000377355:P373S;ENSP00000442033:P339S	ENSP00000164640:P448S	P	-	1	0	PDZD4	152722970	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.175000	0.58263	2.055000	0.61198	0.436000	0.28706	CCC	PDZD4	-	NULL	ENSG00000067840		0.647	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	-	0.00	32	0	G	NM_032512		153069776	-1	tier1	-	no_errors	ENST00000164640	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A
PDZD8	118987	genome.wustl.edu	37	10	119134124	119134124	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:119134124G>A	ENST00000334464.5	-	1	854	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	205					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCACGTCGATGGCCAGGTGGA	0.672																																																	0													38.0	29.0	32.0					10																	119134124		2197	4293	6490	SO:0001819	synonymous_variant	0			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.615C>T	10.37:g.119134124G>A			Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A205	ENST00000334464.5	37	c.615	CCDS7600.1	10																																																																																			PDZD8	-	NULL	ENSG00000165650		0.672	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1		0.00	12	0	G	NM_173791		119134124	-1			no_errors	ENST00000334464	ensembl	human	known	74_37	silent	25.00	6	2	SNP	1.000	A
PER2	8864	genome.wustl.edu	37	2	239184491	239184491	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:239184491G>A	ENST00000254657.3	-	4	620	c.341C>T	c.(340-342)aCa>aTa	p.T114I	PER2_ENST00000440245.1_Missense_Mutation_p.T114I|PER2_ENST00000355768.2_Missense_Mutation_p.T114I|PER2_ENST00000254658.3_Missense_Mutation_p.T114I	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	114					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CTCCTTTAGTGTTTTTATCAG	0.517																																																	0													236.0	221.0	226.0					2																	239184491		2203	4300	6503	SO:0001583	missense	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.341C>T	2.37:g.239184491G>A	ENSP00000254657:p.Thr114Ile		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.T114I	ENST00000254657.3	37	c.341	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580189	0.46006	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.46063	2.77;0.88;1.9;0.88	4.43	4.43	0.53597	.	0.102148	0.64402	D	0.000003	T	0.58652	0.2137	M	0.70842	2.15	0.45354	D	0.998346	D;D;P;P	0.89917	1.0;0.999;0.845;0.879	D;D;P;P	0.78314	0.989;0.991;0.646;0.766	T	0.58973	-0.7541	10	0.45353	T	0.12	-27.7634	8.7416	0.34560	0.1049:0.0:0.8951:0.0	.	114;114;114;114	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	I	114	ENSP00000254657:T114I;ENSP00000254658:T114I;ENSP00000397516:T114I;ENSP00000348013:T114I	ENSP00000254657:T114I	T	-	2	0	PER2	238849230	1.000000	0.71417	0.282000	0.24776	0.262000	0.26303	6.484000	0.73621	2.194000	0.70268	0.655000	0.94253	ACA	PER2	-	NULL	ENSG00000132326		0.517	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	-	0.00	58	0	G	NM_022817		239184491	-1	tier1	-	no_errors	ENST00000254657	ensembl	human	known	74_37	missense	26.42	39	14	SNP	0.987	A
PER3	8863	genome.wustl.edu	37	1	7895980	7895980	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:7895980C>G	ENST00000361923.2	+	19	3521	c.3346C>G	c.(3346-3348)Ctc>Gtc	p.L1116V	PER3_ENST00000377532.3_Missense_Mutation_p.L1125V	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1116					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGCGCATTCTCATGACATA	0.393																																																	0													63.0	60.0	61.0					1																	7895980		2203	4300	6503	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3346C>G	1.37:g.7895980C>G	ENSP00000355031:p.Leu1116Val		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.L1116V	ENST00000361923.2	37	c.3346	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	C	9.335	1.061444	0.19987	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.16196	2.36;2.36	3.98	3.98	0.46160	Period circadian-like, C-terminal (1);	0.297599	0.30791	N	0.008874	T	0.34366	0.0895	L	0.55990	1.75	0.26540	N	0.974102	D;D;D	0.76494	0.977;0.999;0.999	P;D;D	0.71184	0.766;0.952;0.972	T	0.04579	-1.0941	10	0.62326	D	0.03	.	12.9552	0.58424	0.0:1.0:0.0:0.0	.	165;1125;1116	B4DR65;P56645-2;P56645	.;.;PER3_HUMAN	V	1125;1116;309	ENSP00000366755:L1125V;ENSP00000355031:L1116V	ENSP00000355031:L1116V	L	+	1	0	PER3	7818567	1.000000	0.71417	0.040000	0.18447	0.325000	0.28411	3.040000	0.49799	2.052000	0.61016	0.557000	0.71058	CTC	PER3	-	pfam_Period_circadian-like_C	ENSG00000049246		0.393	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	-	0.00	20	0	C	NM_016831		7895980	+1	tier1	-	no_errors	ENST00000361923	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.886	G
PHF2	5253	genome.wustl.edu	37	9	96428130	96428130	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:96428130G>A	ENST00000359246.4	+	15	2467	c.2100G>A	c.(2098-2100)ccG>ccA	p.P700P	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	700					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAAACGCCCCGAAAAGGGACT	0.612																																																	0													59.0	71.0	67.0					9																	96428130		2203	4300	6503	SO:0001819	synonymous_variant	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2100G>A	9.37:g.96428130G>A			Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.P700	ENST00000359246.4	37	c.2100	CCDS35069.1	9																																																																																			PHF2	-	NULL	ENSG00000197724		0.612	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	-	0.00	61	0	G	NM_005392		96428130	+1	tier1	-	no_errors	ENST00000359246	ensembl	human	known	74_37	silent	21.67	47	13	SNP	0.712	A
PINK1	65018	genome.wustl.edu	37	1	20975099	20975099	+	Missense_Mutation	SNP	G	G	A	rs574890623		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:20975099G>A	ENST00000321556.4	+	6	1319	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	409	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.		G -> V (in PARK6). {ECO:0000269|PubMed:16401616}.		activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.G409R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGATCGGGGCGGAAACGGCTG	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18630	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(145;853 1803 8146 34412 35011)												1	Substitution - Missense(1)	lung(1)											67.0	62.0	64.0					1																	20975099		2203	4300	6503	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1225G>A	1.37:g.20975099G>A	ENSP00000364204:p.Gly409Arg		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.G409R	ENST00000321556.4	37	c.1225	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.264916	0.95399	.	.	ENSG00000158828	ENST00000321556	D	0.81739	-1.53	6.17	6.17	0.99709	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	0.92632	0.7659	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.93807	0.7106	10	0.87932	D	0	-4.1894	16.3795	0.83443	0.0:0.0:1.0:0.0	.	102;409	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	R	409	ENSP00000364204:G409R	ENSP00000364204:G409R	G	+	1	0	PINK1	20847686	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	6.969000	0.76092	2.941000	0.99782	0.655000	0.94253	GGA	PINK1	-	pfam_Prot_kinase_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_dom	ENSG00000158828		0.627	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	-	0.00	55	0	G	NM_032409		20975099	+1	tier1	-	no_errors	ENST00000321556	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	A
PINX1	54984	genome.wustl.edu	37	8	10623267	10623267	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:10623267T>C	ENST00000314787.3	-	7	750	c.631A>G	c.(631-633)Agg>Ggg	p.R211G	SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_3'UTR|CTD-2135J3.3_ENST00000506149.2_RNA|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000426190.2_3'UTR|SOX7_ENST00000554914.1_Intron	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	211					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TTCTTCCCCCTTTTACGTTCC	0.532																																																	0													146.0	151.0	149.0					8																	10623267		1904	4115	6019	SO:0001583	missense	0			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.631A>G	8.37:g.10623267T>C	ENSP00000318966:p.Arg211Gly		B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.R211G	ENST00000314787.3	37	c.631	CCDS47801.1	8	.	.	.	.	.	.	.	.	.	.	T	12.47	1.946898	0.34377	.	.	ENSG00000254093	ENST00000314787	T	0.17691	2.26	5.8	3.41	0.39046	.	1.640430	0.02538	N	0.094302	T	0.20700	0.0498	L	0.51422	1.61	0.20307	N	0.999915	B	0.06786	0.001	B	0.04013	0.001	T	0.26430	-1.0103	10	0.54805	T	0.06	.	7.5259	0.27656	0.0:0.1693:0.0:0.8307	.	211	Q96BK5	PINX1_HUMAN	G	211	ENSP00000318966:R211G	ENSP00000318966:R211G	R	-	1	2	PINX1	10660677	0.188000	0.23250	0.001000	0.08648	0.003000	0.03518	0.485000	0.22324	0.454000	0.26884	0.533000	0.62120	AGG	PINX1	-	NULL	ENSG00000254093		0.532	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINX1	HGNC	protein_coding	OTTHUMT00000375683.1		0.00	48	0	T	NM_017884		10623267	-1			no_errors	ENST00000314787	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.056	C
PKD1L1	168507	genome.wustl.edu	37	7	47897316	47897316	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:47897316C>T	ENST00000289672.2	-	28	4527	c.4477G>A	c.(4477-4479)Ggt>Agt	p.G1493S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1493	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCAAGGTCACCAGGTAAATGC	0.542																																																	0													73.0	74.0	74.0					7																	47897316		2203	4300	6503	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4477G>A	7.37:g.47897316C>T	ENSP00000289672:p.Gly1493Ser		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.G1493S	ENST00000289672.2	37	c.4477	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304863	0.40795	.	.	ENSG00000158683	ENST00000289672	T	0.18338	2.22	5.22	3.39	0.38822	Egg jelly receptor, REJ-like (1);	0.967912	0.08496	N	0.937151	T	0.11495	0.0280	N	0.16478	0.41	0.09310	N	1	B	0.19583	0.037	B	0.14023	0.01	T	0.33059	-0.9883	10	0.41790	T	0.15	-5.8122	8.0888	0.30788	0.0:0.8104:0.0:0.1896	.	1493	Q8TDX9	PK1L1_HUMAN	S	1493	ENSP00000289672:G1493S	ENSP00000289672:G1493S	G	-	1	0	PKD1L1	47863841	0.000000	0.05858	0.001000	0.08648	0.893000	0.52053	-0.170000	0.09897	0.577000	0.29470	0.563000	0.77884	GGT	PKD1L1	-	pfscan_REJ-like	ENSG00000158683		0.542	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	-	0.00	17	0	C	NM_138295		47897316	-1	tier1	-	no_errors	ENST00000289672	ensembl	human	known	74_37	missense	44.44	25	20	SNP	0.015	T
PKD1L3	342372	genome.wustl.edu	37	16	72003796	72003796	+	RNA	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:72003796T>C	ENST00000534738.1	-	0	2161							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						TGCTTGATCCTTTTTCCGAGC	0.408																																																	0													89.0	71.0	77.0					16																	72003796		692	1591	2283			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72003796T>C				RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.408	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	-	0.00	42	0	T	NM_181536		72003796	-1	tier1	-	no_errors	ENST00000335106	ensembl	human	known	74_37	rna	10.81	33	4	SNP	0.678	C
PLEKHG6	55200	genome.wustl.edu	37	12	6424739	6424739	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:6424739G>T	ENST00000396988.3	+	5	709	c.479G>T	c.(478-480)tGc>tTc	p.C160F	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.C128F|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.C160F|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.C160F	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	160						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CAGGAGCTCTGCCACCAACAG	0.567																																																	0													44.0	45.0	45.0					12																	6424739		2203	4300	6503	SO:0001583	missense	0			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.479G>T	12.37:g.6424739G>T	ENSP00000380185:p.Cys160Phe		Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.C160F	ENST00000396988.3	37	c.479	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628522	0.46944	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	4.78	4.78	0.61160	Dbl homology (DH) domain (2);	0.082064	0.52532	D	0.000070	T	0.59307	0.2184	L	0.27053	0.805	0.80722	D	1	B;B;D	0.61080	0.05;0.05;0.989	B;B;P	0.50490	0.015;0.022;0.642	T	0.53885	-0.8375	10	0.18710	T	0.47	-8.1314	13.1961	0.59738	0.0:0.0:1.0:0.0	.	128;160;160	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	F	160;160;160;128	ENSP00000011684:C160F;ENSP00000442836:C160F;ENSP00000380185:C160F;ENSP00000393194:C128F	ENSP00000011684:C160F	C	+	2	0	PLEKHG6	6295000	.	.	0.995000	0.50966	0.986000	0.74619	.	.	2.475000	0.83589	0.561000	0.74099	TGC	PLEKHG6	-	superfamily_DH-domain	ENSG00000008323		0.567	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1		0.00	23	0	G	NM_018173		6424739	+1			no_errors	ENST00000011684	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T
PPFIA3	8541	genome.wustl.edu	37	19	49633254	49633254	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:49633254T>C	ENST00000334186.4	+	6	936	c.587T>C	c.(586-588)cTg>cCg	p.L196P	PPFIA3_ENST00000602351.1_Missense_Mutation_p.L196P	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	196					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TTCCAGACTCTGAACCTTCGA	0.612																																																	0													69.0	65.0	66.0					19																	49633254		2203	4300	6503	SO:0001583	missense	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.587T>C	19.37:g.49633254T>C	ENSP00000335614:p.Leu196Pro		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L196P	ENST00000334186.4	37	c.587	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	T	11.74	1.729523	0.30684	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.35789	1.29	4.4	4.4	0.53042	.	0.209236	0.23302	N	0.049666	T	0.39436	0.1078	L	0.47716	1.5	0.58432	D	0.999999	D;B;B	0.54397	0.966;0.42;0.027	P;P;B	0.50708	0.648;0.622;0.035	T	0.10086	-1.0645	10	0.30078	T	0.28	-2.1676	11.8923	0.52637	0.0:0.0:0.0:1.0	.	120;196;196	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	P	196;120	ENSP00000335614:L196P	ENSP00000335614:L196P	L	+	2	0	PPFIA3	54325066	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	2.841000	0.48223	1.991000	0.58162	0.379000	0.24179	CTG	PPFIA3	-	NULL	ENSG00000177380		0.612	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1		0.00	29	0	T	NM_003660		49633254	+1			no_errors	ENST00000334186	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.999	C
PPP1R26	9858	genome.wustl.edu	37	9	138379062	138379062	+	Silent	SNP	C	C	T	rs372949310		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:138379062C>T	ENST00000356818.2	+	4	3255	c.2706C>T	c.(2704-2706)gcC>gcT	p.A902A	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.A902A|PPP1R26_ENST00000401470.3_Silent_p.A902A|PPP1R26_ENST00000605660.1_Silent_p.A902A|PPP1R26_ENST00000604351.1_Silent_p.A902A	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	902					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CACATCTGGCCGAAGGGCTTC	0.706																																																	0								C		1,4217		0,1,2108	32.0	39.0	37.0		2706	-9.0	0.0	9		37	0,8284		0,0,4142	no	coding-synonymous	KIAA0649	NM_014811.3		0,1,6250	TT,TC,CC		0.0,0.0237,0.0080		902/1210	138379062	1,12501	2109	4142	6251	SO:0001819	synonymous_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2706C>T	9.37:g.138379062C>T			Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	NULL	p.A902	ENST00000356818.2	37	c.2706	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.706	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	-	0.00	35	0	C	NM_014811		138379062	+1	tier1	-	no_errors	ENST00000356818	ensembl	human	known	74_37	silent	25.64	29	10	SNP	0.000	T
PPP1R3A	5506	genome.wustl.edu	37	7	113517782	113517782	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:113517782T>G	ENST00000284601.3	-	4	3433	c.3365A>C	c.(3364-3366)aAg>aCg	p.K1122T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1122					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGAGGTTACTTCTTTTTGAC	0.383																																																	0													95.0	96.0	96.0					7																	113517782		2203	4299	6502	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3365A>C	7.37:g.113517782T>G	ENSP00000284601:p.Lys1122Thr		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.K1122T	ENST00000284601.3	37	c.3365	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	16.76	3.211895	0.58452	.	.	ENSG00000154415	ENST00000284601	T	0.30981	1.51	5.74	5.74	0.90152	.	0.115334	0.43416	D	0.000571	T	0.43433	0.1247	L	0.27053	0.805	0.30635	N	0.757048	D	0.89917	1.0	D	0.71414	0.973	T	0.48559	-0.9025	10	0.87932	D	0	.	16.0249	0.80536	0.0:0.0:0.0:1.0	.	1122	Q16821	PPR3A_HUMAN	T	1122	ENSP00000284601:K1122T	ENSP00000284601:K1122T	K	-	2	0	PPP1R3A	113305018	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.249000	0.65427	2.181000	0.69327	0.528000	0.53228	AAG	PPP1R3A	-	NULL	ENSG00000154415		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	-	0.00	37	0	T	NM_002711		113517782	-1	tier1	-	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	39.13	14	9	SNP	1.000	G
PRICKLE1	144165	genome.wustl.edu	37	12	42853858	42853858	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:42853858C>T	ENST00000455697.1	-	8	2534	c.2249G>A	c.(2248-2250)cGg>cAg	p.R750Q	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R750Q|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R750Q|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R750Q|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R750Q|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	750					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TCCCAGAAACCGATTCATTCC	0.512																																																	0													128.0	131.0	130.0					12																	42853858		2203	4300	6503	SO:0001583	missense	0			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2249G>A	12.37:g.42853858C>T	ENSP00000401060:p.Arg750Gln		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R750Q	ENST00000455697.1	37	c.2249	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	C	6.747	0.506603	0.12883	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.58	4.68	0.58851	.	0.299428	0.37437	N	0.002082	T	0.74876	0.3774	L	0.35341	1.055	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.60244	-0.7301	10	0.40728	T	0.16	-6.3137	6.974	0.24664	0.0:0.7577:0.0:0.2423	.	750	Q96MT3	PRIC1_HUMAN	Q	750	ENSP00000401060:R750Q;ENSP00000398947:R750Q;ENSP00000448359:R750Q;ENSP00000345064:R750Q;ENSP00000449819:R750Q	ENSP00000345064:R750Q	R	-	2	0	PRICKLE1	41140125	0.000000	0.05858	0.011000	0.14972	0.071000	0.16799	0.900000	0.28431	2.782000	0.95742	0.655000	0.94253	CGG	PRICKLE1	-	NULL	ENSG00000139174		0.512	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1	-	0.00	29	0	C			42853858	-1	tier1	-	no_errors	ENST00000345127	ensembl	human	known	74_37	missense	46.15	14	12	SNP	0.004	T
PROS1	5627	genome.wustl.edu	37	3	93605274	93605274	+	Missense_Mutation	SNP	G	G	T	rs199469495		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:93605274G>T	ENST00000394236.3	-	11	1545	c.1229C>A	c.(1228-1230)cCt>cAt	p.P410H	PROS1_ENST00000407433.1_Missense_Mutation_p.P279H	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	410	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AAGGGGTCCAGGTTTATTTAT	0.353																																																	0													139.0	153.0	148.0					3																	93605274		2203	4300	6503	SO:0001583	missense	0				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1229C>A	3.37:g.93605274G>T	ENSP00000377783:p.Pro410His		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.P410H	ENST00000394236.3	37	c.1229	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959683	0.53400	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78364	-1.17;-1.17	3.42	1.57	0.23409	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.121609	0.56097	U	0.000026	D	0.82495	0.5049	M	0.76838	2.35	0.47778	D	0.999516	P	0.43885	0.82	P	0.54499	0.754	T	0.80246	-0.1462	10	0.62326	D	0.03	.	8.3152	0.32095	0.2012:0.0:0.7988:0.0	.	410	P07225	PROS_HUMAN	H	410;279	ENSP00000377783:P410H;ENSP00000385794:P279H	ENSP00000377783:P410H	P	-	2	0	PROS1	95087964	1.000000	0.71417	0.958000	0.39756	0.974000	0.67602	3.989000	0.56958	0.149000	0.19098	-0.137000	0.14449	CCT	PROS1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000184500		0.353	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	-	0.00	57	0	G	NM_000313		93605274	-1	tier1	rs199469495	no_errors	ENST00000394236	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.995	T
PRSS48	345062	genome.wustl.edu	37	4	152201018	152201018	+	Missense_Mutation	SNP	G	G	T	rs148861921|rs77216366	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr4:152201018G>T	ENST00000455694.2	+	2	125	c.123G>T	c.(121-123)tgG>tgT	p.W41C	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	41	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GCTGGCCTTGGCAGGTCAGCC	0.532																																																	0													120.0	109.0	113.0					4																	152201018		2010	4172	6182	SO:0001583	missense	0			BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.123G>T	4.37:g.152201018G>T	ENSP00000401328:p.Trp41Cys		Q08E82|Q0VAD4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.W41C	ENST00000455694.2	37	c.123	CCDS47145.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.45|15.45	2.836560|2.836560	0.50951|0.50951	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000530477|ENST00000455694	.|T	.|0.50001	.|0.76	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.000000	.|0.30920	.|N	.|0.008611	T|T	0.81513|0.81513	0.4838|0.4838	H|H	0.98965|0.98965	4.385|4.385	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.88620|0.88620	0.3162|0.3162	5|10	.|0.87932	.|D	.|0	.|.	16.2008|16.2008	0.82071|0.82071	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|41	.|Q7RTY5	.|PRS48_HUMAN	V|C	24|41	.|ENSP00000401328:W41C	.|ENSP00000401328:W41C	G|W	+|+	2|3	0|0	PRSS48|PRSS48	152420468|152420468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.426000|0.426000	0.31534|0.31534	8.605000|8.605000	0.90883|0.90883	2.774000|2.774000	0.95407|0.95407	0.585000|0.585000	0.79938|0.79938	GGC|TGG	PRSS48	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000189099		0.532	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS48	HGNC	protein_coding	OTTHUMT00000365685.3		0.00	26	0	G	NM_183375		152201018	+1			no_errors	ENST00000455694	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	T
PSTPIP1	9051	genome.wustl.edu	37	15	77320140	77320140	+	Intron	DEL	G	G	-			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:77320140delG	ENST00000558012.1	+	6	843				PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000559295.1_Intron|PSTPIP1_ENST00000379595.3_Intron	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1						cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TCTTGGCCTAGGGGAGCCTCC	0.672																																																	0													18.0	22.0	21.0					15																	77320140		685	1585	2270	SO:0001627	intron_variant	0			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.355-53G>-	15.37:g.77320140delG			B5BU74|B5BUK4|O43585|O95657	Frame_Shift_Del	DEL	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.*102fs	ENST00000558012.1	37	c.306	CCDS45312.1	15																																																																																			PSTPIP1	-	NULL	ENSG00000140368		0.672	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2		0.00	35	0	G	NM_003978		77320140	+1	tier1		no_errors	ENST00000560796	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	0.922	-
PTPRB	5787	genome.wustl.edu	37	12	70918373	70918373	+	Splice_Site	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:70918373T>C	ENST00000261266.5	-	31	5880		c.e31-2		PTPRB_ENST00000550857.1_Splice_Site|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000451516.2_Splice_Site|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549359.1_RNA|PTPRB_ENST00000334414.6_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550358.1_Splice_Site|RP11-588H23.3_ENST00000549460.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATACTGACACTGTGGAAAAGC	0.403																																																	0													96.0	92.0	93.0					12																	70918373		1927	4137	6064	SO:0001630	splice_region_variant	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5851-2A>G	12.37:g.70918373T>C			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Splice_Site	SNP	-	e33-2	ENST00000261266.5	37	c.6505-2	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078101	0.76528	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7135	0.77649	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRB	69204640	1.000000	0.71417	0.948000	0.38648	0.867000	0.49689	7.665000	0.83852	2.113000	0.64589	0.455000	0.32223	.	PTPRB	-	-	ENSG00000127329		0.403	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1		0.00	21	0	T		Intron	70918373	-1			no_errors	ENST00000334414	ensembl	human	known	74_37	splice_site	6.90	27	2	SNP	0.998	C
RAI1	10743	genome.wustl.edu	37	17	17700071	17700071	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:17700071T>C	ENST00000353383.1	+	3	4278	c.3809T>C	c.(3808-3810)tTc>tCc	p.F1270S	RAI1_ENST00000261641.6_Missense_Mutation_p.F1270S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1270					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCCACCCTCTTCAAGAGGATG	0.637																																																	0													48.0	55.0	53.0					17																	17700071		2203	4299	6502	SO:0001583	missense	0			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3809T>C	17.37:g.17700071T>C	ENSP00000323074:p.Phe1270Ser		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.F1270S	ENST00000353383.1	37	c.3809	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	T	11.95	1.790994	0.31685	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.67345	-0.26;0.32	4.46	4.46	0.54185	.	0.512970	0.17847	N	0.159993	T	0.61776	0.2374	L	0.56769	1.78	0.26639	N	0.972312	P	0.39391	0.671	B	0.35413	0.202	T	0.59731	-0.7399	10	0.49607	T	0.09	.	13.7243	0.62748	0.0:0.0:0.0:1.0	.	1270	Q7Z5J4	RAI1_HUMAN	S	1270;1270;1270;1222	ENSP00000323074:F1270S;ENSP00000261641:F1270S	ENSP00000261641:F1270S	F	+	2	0	RAI1	17640796	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	4.501000	0.60393	1.653000	0.50694	0.260000	0.18958	TTC	RAI1	-	NULL	ENSG00000108557		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1		0.00	47	0	T	NM_030665		17700071	+1			no_errors	ENST00000353383	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	C
RASEF	158158	genome.wustl.edu	37	9	85616023	85616023	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:85616023C>T	ENST00000376447.3	-	10	1485	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	409					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAGTCCTCATCCACATAGGAA	0.507																																																	0													45.0	42.0	43.0					9																	85616023		2203	4300	6503	SO:0001583	missense	0			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1225G>A	9.37:g.85616023C>T	ENSP00000365630:p.Asp409Asn		A6NC29|Q96N04	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.D409N	ENST00000376447.3	37	c.1225	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566869	0.86439	.	.	ENSG00000165105	ENST00000376447	T	0.61274	0.12	5.92	5.92	0.95590	.	0.114416	0.64402	D	0.000009	T	0.71745	0.3376	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66156	-0.5994	10	0.33940	T	0.23	.	19.9242	0.97098	0.0:1.0:0.0:0.0	.	409	Q8IZ41	RASEF_HUMAN	N	409	ENSP00000365630:D409N	ENSP00000365630:D409N	D	-	1	0	RASEF	84805843	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.482000	0.60257	2.814000	0.96858	0.585000	0.79938	GAT	RASEF	-	NULL	ENSG00000165105		0.507	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1		0.00	18	0	C	NM_152573		85616023	-1			no_errors	ENST00000376447	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T
RASGEF1A	221002	genome.wustl.edu	37	10	43701549	43701549	+	Missense_Mutation	SNP	C	C	T	rs531161360		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:43701549C>T	ENST00000395809.1	-	2	2522	c.16G>A	c.(16-18)Gtt>Att	p.V6I	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.V14I|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.V6I|RASGEF1A_ENST00000472864.1_5'Flank			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	6					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GAGAAGACAACGGACGTCTGG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17612	0.0		0.0	False		,,,				2504	0.001																0													33.0	41.0	39.0					10																	43701549		2194	4294	6488	SO:0001583	missense	0			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.16G>A	10.37:g.43701549C>T	ENSP00000379154:p.Val6Ile		Q8TBF1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V6I	ENST00000395809.1	37	c.16	CCDS7202.2	10	.	.	.	.	.	.	.	.	.	.	C	5.166	0.216225	0.09810	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.70869	-0.49;-0.52;-0.52	3.52	2.62	0.31277	.	0.415820	0.21615	N	0.071740	T	0.44008	0.1273	N	0.08118	0	0.09310	N	0.999999	B;B	0.09022	0.001;0.002	B;B	0.08055	0.002;0.003	T	0.19516	-1.0303	10	0.18276	T	0.48	.	6.9132	0.24346	0.0:0.8737:0.0:0.1263	.	6;14	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	I	14;6;6	ENSP00000363583:V14I;ENSP00000379155:V6I;ENSP00000379154:V6I	ENSP00000363583:V14I	V	-	1	0	RASGEF1A	43021555	0.636000	0.27207	0.239000	0.24122	0.582000	0.36321	0.621000	0.24418	1.089000	0.41292	0.655000	0.94253	GTT	RASGEF1A	-	NULL	ENSG00000198915		0.647	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	RASGEF1A	HGNC	protein_coding	OTTHUMT00000313989.1		0.00	37	0	C	NM_145313		43701549	-1			no_errors	ENST00000395809	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.322	T
RBM25	58517	genome.wustl.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																																	0																																										SO:0001589	frameshift_variant	0			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom	p.E402fs	ENST00000261973.7	37	c.1195_1196	CCDS32113.1	14																																																																																			RBM25	-	NULL	ENSG00000119707		0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1		0.00	24	0	AG	XM_027330		73572608	+1	tier1		no_errors	ENST00000261973	ensembl	human	known	74_37	frame_shift_del	11.63	38	5	DEL	0.998:1.000	-
RFX5	5993	genome.wustl.edu	37	1	151316983	151316983	+	Missense_Mutation	SNP	C	C	T	rs377555466		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:151316983C>T	ENST00000290524.4	-	7	561	c.383G>A	c.(382-384)cGc>cAc	p.R128H	RFX5_ENST00000452671.2_Missense_Mutation_p.R128H|RP11-126K1.8_ENST00000422153.1_RNA|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000368870.2_Missense_Mutation_p.R128H|RFX5_ENST00000452513.2_Missense_Mutation_p.R88H	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	128					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGAGTGGGCGGCAACAGGC	0.547																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	54.0	54.0	54.0		383,383	5.8	1.0	1		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RFX5	NM_000449.3,NM_001025603.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	128/617,128/617	151316983	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.383G>A	1.37:g.151316983C>T	ENSP00000290524:p.Arg128His		B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.R128H	ENST00000290524.4	37	c.383	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777349	0.90195	0.0	1.16E-4	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595;ENST00000450506;ENST00000458484	D;D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.79	5.79	0.91817	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	N	0.21097	0.63	0.80722	D	1	D;D	0.89917	1.0;0.983	D;P	0.91635	0.999;0.728	T	0.76468	-0.2948	10	0.15066	T	0.55	-9.3157	18.5999	0.91246	0.0:1.0:0.0:0.0	.	88;128	B7Z848;P48382	.;RFX5_HUMAN	H	128;128;20;128;88;128;128;128;128	ENSP00000290524:R128H;ENSP00000357864:R128H;ENSP00000390769:R20H;ENSP00000389130:R128H;ENSP00000398388:R88H;ENSP00000376502:R128H;ENSP00000399095:R128H;ENSP00000398666:R128H;ENSP00000409187:R128H	ENSP00000290524:R128H	R	-	2	0	RFX5	149583607	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.767000	0.47637	2.745000	0.94114	0.462000	0.41574	CGC	RFX5	-	pfam_DNA-bd_RFX	ENSG00000143390		0.547	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6		0.00	18	0	C	NM_000449		151316983	-1			no_errors	ENST00000290524	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T
RIMS4	140730	genome.wustl.edu	37	20	43438826	43438826	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:43438826G>A	ENST00000372851.3	-	1	153	c.87C>T	c.(85-87)gaC>gaT	p.D29D	RIMS4_ENST00000541604.2_Silent_p.D29D	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	29					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CTGCGTCCTCGTCGTCGAAGG	0.731																																																	0													12.0	11.0	11.0					20																	43438826		2191	4279	6470	SO:0001819	synonymous_variant	0				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.87C>T	20.37:g.43438826G>A			A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.D29	ENST00000372851.3	37	c.87	CCDS13338.1	20																																																																																			RIMS4	-	NULL	ENSG00000101098		0.731	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RIMS4	HGNC	protein_coding	OTTHUMT00000101027.2	-	0.00	13	0	G	NM_182970		43438826	-1	tier1	-	no_errors	ENST00000541604	ensembl	human	known	74_37	silent	36.36	7	4	SNP	0.807	A
RIOK3	8780	genome.wustl.edu	37	18	21044495	21044495	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr18:21044495C>T	ENST00000339486.3	+	5	1063	c.446C>T	c.(445-447)cCc>cTc	p.P149L	RIOK3_ENST00000577501.1_Missense_Mutation_p.P149L|RIOK3_ENST00000581585.1_Missense_Mutation_p.P133L	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	149					chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAACCGGTTCCCACTCCTAAA	0.363																																																	0													73.0	71.0	72.0					18																	21044495		2203	4300	6503	SO:0001583	missense	0			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.446C>T	18.37:g.21044495C>T	ENSP00000341874:p.Pro149Leu		Q8IXN9	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3	p.P149L	ENST00000339486.3	37	c.446	CCDS11877.1	18	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857175	0.51376	.	.	ENSG00000101782	ENST00000339486	T	0.06449	3.3	6.07	5.2	0.72013	.	0.308479	0.40302	N	0.001123	T	0.05502	0.0145	N	0.24115	0.695	0.58432	D	0.999997	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.10450	0.002;0.005;0.002	T	0.34229	-0.9837	10	0.45353	T	0.12	-0.2289	10.9737	0.47454	0.1317:0.8003:0.0:0.068	.	133;149;149	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	L	149	ENSP00000341874:P149L	ENSP00000341874:P149L	P	+	2	0	RIOK3	19298493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.109000	0.64615	1.546000	0.49388	0.655000	0.94253	CCC	RIOK3	-	pirsf_Ser/Thr_kinase_Rio3	ENSG00000101782		0.363	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK3	HGNC	protein_coding	OTTHUMT00000254756.1	-	0.00	16	0	C	NM_003831		21044495	+1	tier1	-	no_errors	ENST00000339486	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	T
RMI1	80010	genome.wustl.edu	37	9	86617740	86617740	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:86617740G>A	ENST00000325875.3	+	3	2171	c.1839G>A	c.(1837-1839)atG>atA	p.M613I		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	613					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGTTAATATGGAACACCTTG	0.279																																																	0													74.0	67.0	69.0					9																	86617740		2203	4300	6503	SO:0001583	missense	0			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1839G>A	9.37:g.86617740G>A	ENSP00000317039:p.Met613Ile		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	pfam_DUF1767	p.M613I	ENST00000325875.3	37	c.1839	CCDS6669.1	9	.	.	.	.	.	.	.	.	.	.	G	2.293	-0.361997	0.05103	.	.	ENSG00000178966	ENST00000325875	T	0.29142	1.58	5.76	2.97	0.34412	.	0.656672	0.15584	N	0.254760	T	0.15089	0.0364	N	0.14661	0.345	0.19575	N	0.999962	B	0.02656	0.0	B	0.06405	0.002	T	0.28138	-1.0053	9	.	.	.	-15.1655	5.5352	0.17007	0.3213:0.0:0.552:0.1267	.	613	Q9H9A7	RMI1_HUMAN	I	613	ENSP00000317039:M613I	.	M	+	3	0	RMI1	85807560	0.975000	0.34042	0.411000	0.26484	0.612000	0.37316	1.685000	0.37659	0.377000	0.24735	-0.251000	0.11542	ATG	RMI1	-	NULL	ENSG00000178966		0.279	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1		0.00	49	0	G	NM_024945		86617740	+1			no_errors	ENST00000325875	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.183	A
RNF14	9604	genome.wustl.edu	37	5	141357922	141357922	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:141357922G>A	ENST00000394520.2	+	5	670	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000356143.1_Missense_Mutation_p.V121M|RNF14_ENST00000347642.3_Missense_Mutation_p.V121M|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Missense_Mutation_p.V121M|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000540015.1_Intron	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	121	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CCGTGGCAGCGTGGTCCTGTT	0.428																																																	0													127.0	115.0	119.0					5																	141357922		2203	4300	6503	SO:0001583	missense	0			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.361G>A	5.37:g.141357922G>A	ENSP00000378028:p.Val121Met		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.V121M	ENST00000394520.2	37	c.361	CCDS4270.1	5	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754189	0.89843	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000507163;ENST00000394519	T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.67	5.67	0.87782	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.108254	0.64402	D	0.000006	T	0.63896	0.2550	M	0.75777	2.31	0.58432	D	0.999999	P	0.52316	0.952	P	0.52758	0.708	T	0.64952	-0.6286	10	0.51188	T	0.08	.	19.8351	0.96655	0.0:0.0:1.0:0.0	.	121	Q9UBS8	RNF14_HUMAN	M	121	ENSP00000423420:V121M;ENSP00000423273:V121M;ENSP00000348462:V121M;ENSP00000378028:V121M;ENSP00000324956:V121M;ENSP00000420837:V121M;ENSP00000422527:V121M;ENSP00000378027:V121M	ENSP00000324956:V121M	V	+	1	0	RNF14	141338106	1.000000	0.71417	0.963000	0.40424	0.972000	0.66771	9.513000	0.98010	2.702000	0.92279	0.558000	0.71614	GTG	RNF14	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	ENSG00000013561		0.428	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	HGNC	protein_coding	OTTHUMT00000251860.2		0.00	50	0	G	NM_004290		141357922	+1			no_errors	ENST00000347642	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A
RPA1	6117	genome.wustl.edu	37	17	1756455	1756455	+	Missense_Mutation	SNP	G	G	T	rs368130064		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:1756455G>T	ENST00000254719.5	+	5	443	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	111					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTGGAGTGAAGATTGGCAATC	0.383								Nucleotide excision repair (NER)																																									0													162.0	161.0	161.0					17																	1756455		2203	4300	6503	SO:0001583	missense	0			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.333G>T	17.37:g.1756455G>T	ENSP00000254719:p.Lys111Asn		A8K0Y9|Q59ES9	Missense_Mutation	SNP	pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	p.K111N	ENST00000254719.5	37	c.333	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946626	0.53186	.	.	ENSG00000132383	ENST00000254719	T	0.50813	0.73	5.89	4.93	0.64822	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.155450	0.56097	D	0.000025	T	0.44623	0.1302	M	0.79475	2.455	0.47905	D	0.999544	P	0.39809	0.689	B	0.33799	0.17	T	0.42716	-0.9435	10	0.26408	T	0.33	-23.686	10.8237	0.46620	0.1516:0.0:0.8484:0.0	.	111	P27694	RFA1_HUMAN	N	111	ENSP00000254719:K111N	ENSP00000254719:K111N	K	+	3	2	RPA1	1703205	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.172000	0.42463	1.503000	0.48686	0.585000	0.79938	AAG	RPA1	-	superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	ENSG00000132383		0.383	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	-	0.00	31	0	G	NM_002945		1756455	+1	tier1	-	no_errors	ENST00000254719	ensembl	human	known	74_37	missense	60.00	12	18	SNP	1.000	T
RPL12	6136	genome.wustl.edu	37	9	130210016	130210017	+	Intron	INS	-	-	A	rs536891934	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:130210016_130210017insA	ENST00000361436.5	-	7	580				RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Intron|SNORA65_ENST00000364432.1_RNA	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTGTGGGAAAGAAAAAAAAAAT	0.416													|||unknown(HR)	25	0.00499201	0.0174	0.0	5008	,	,		18629	0.0		0.001	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	0				CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.493-11->T	9.37:g.130210026_130210026dupA			Q5VVV2|Q6PB27	RNA	INS	-	NULL	ENST00000361436.5	37	NULL	CCDS6872.1	9																																																																																			RPL12	-	-	ENSG00000197958		0.416	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL12	HGNC	protein_coding	OTTHUMT00000054189.1		0.00	39	0	-			130210017	-1	tier1		no_errors	ENST00000497322	ensembl	human	known	74_37	rna	33.33	24	12	INS	0.000:0.010	A
RSPH3	83861	genome.wustl.edu	37	6	159401884	159401884	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:159401884G>A	ENST00000252655.1	-	6	1396	c.1207C>T	c.(1207-1209)Cgt>Tgt	p.R403C	RSPH3_ENST00000367069.2_Missense_Mutation_p.R261C|RSPH3_ENST00000449822.1_Missense_Mutation_p.R165C|RSPH3_ENST00000297262.3_Missense_Mutation_p.R307C	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	403										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GCCAGGTAACGCTGTGCAAAT	0.468																																																	0													208.0	164.0	179.0					6																	159401884		2203	4300	6503	SO:0001583	missense	0			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1207C>T	6.37:g.159401884G>A	ENSP00000252655:p.Arg403Cys		Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	pfam_Radial_spoke_3	p.R403C	ENST00000252655.1	37	c.1207	CCDS5260.1	6	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711884	0.68730	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.81	3.95	0.45737	.	0.373651	0.32386	N	0.006176	T	0.29223	0.0727	L	0.55481	1.735	0.40290	D	0.978492	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.947	T	0.00802	-1.1560	10	0.56958	D	0.05	-10.9622	12.8947	0.58093	0.0:0.1223:0.7519:0.1259	.	307;403	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	C	261;165;403;307	ENSP00000356036:R261C;ENSP00000393195:R165C;ENSP00000252655:R403C;ENSP00000297262:R307C	ENSP00000252655:R403C	R	-	1	0	RSPH3	159321872	1.000000	0.71417	0.912000	0.35992	0.616000	0.37450	3.451000	0.52964	2.746000	0.94184	0.591000	0.81541	CGT	RSPH3	-	pfam_Radial_spoke_3	ENSG00000130363		0.468	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH3	HGNC	protein_coding		-	0.00	43	0	G	NM_031924		159401884	-1	tier1	-	no_errors	ENST00000252655	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	A
RTTN	25914	genome.wustl.edu	37	18	67760024	67760025	+	Frame_Shift_Ins	INS	-	-	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr18:67760024_67760025insA	ENST00000255674.6	-	29	4205_4206	c.3919_3920insT	c.(3919-3921)tatfs	p.Y1307fs	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Frame_Shift_Ins_p.Y1307fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1307					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACGCTCCACATAAAAAGAAGTA	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3920dupT	18.37:g.67760029_67760029dupA	ENSP00000255674:p.Tyr1307fs		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.Y1307fs	ENST00000255674.6	37	c.3920_3919	CCDS42443.1	18																																																																																			RTTN	-	NULL	ENSG00000176225		0.361	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1		0.00	28	0	-	NM_173630		67760025	-1	tier1		no_errors	ENST00000255674	ensembl	human	known	74_37	frame_shift_ins	41.46	24	17	INS	1.000:1.000	A
RYR1	6261	genome.wustl.edu	37	19	39052025	39052025	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:39052025G>A	ENST00000359596.3	+	90	12555	c.12555G>A	c.(12553-12555)gcG>gcA	p.A4185A	RYR1_ENST00000355481.4_Silent_p.A4180A|RYR1_ENST00000360985.3_Silent_p.A4180A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4185					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)	TCATGGGCGCGTCACGCCGCA	0.647																																																	0													85.0	64.0	71.0					19																	39052025		2203	4300	6503	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12555G>A	19.37:g.39052025G>A			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.A4185	ENST00000359596.3	37	c.12555	CCDS33011.1	19																																																																																			RYR1	-	NULL	ENSG00000196218		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0.00	37	0	G			39052025	+1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	silent	23.53	26	8	SNP	0.996	A
RYR2	6262	genome.wustl.edu	37	1	237777491	237777491	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:237777491C>T	ENST00000366574.2	+	37	5380	c.5063C>T	c.(5062-5064)gCc>gTc	p.A1688V	RYR2_ENST00000542537.1_Missense_Mutation_p.A1672V|RYR2_ENST00000360064.6_Missense_Mutation_p.A1686V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1688	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCTCTATGCCATTGAGAAC	0.557																																																	0													66.0	67.0	67.0					1																	237777491		2146	4256	6402	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5063C>T	1.37:g.237777491C>T	ENSP00000355533:p.Ala1688Val		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A1686V	ENST00000366574.2	37	c.5057	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.284443	0.95517	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97089	-4.24;-4.21;-4.23	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000006	D	0.97651	0.9230	M	0.80422	2.495	0.80722	D	1	D	0.57899	0.981	P	0.49752	0.621	D	0.98068	1.0397	10	0.72032	D	0.01	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	1688	Q92736	RYR2_HUMAN	V	1688;1686;1672	ENSP00000355533:A1688V;ENSP00000353174:A1686V;ENSP00000443798:A1672V	ENSP00000353174:A1686V	A	+	2	0	RYR2	235844114	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.027000	0.70881	2.730000	0.93505	0.655000	0.94253	GCC	RYR2	-	NULL	ENSG00000198626		0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0.00	61	0	C	NM_001035		237777491	+1			no_errors	ENST00000360064	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	33952554	33952554	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:33952554C>T	ENST00000389232.4	+	34	4622	c.4552C>T	c.(4552-4554)Cgc>Tgc	p.R1518C	RYR3_ENST00000415757.3_Missense_Mutation_p.R1518C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1518	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)		TGTGAGCGAGCGCCACGGCTG	0.657																																																	0													21.0	24.0	23.0					15																	33952554		2165	4276	6441	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.4552C>T	15.37:g.33952554C>T	ENSP00000373884:p.Arg1518Cys		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_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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_dom,pfscan_MIR_motif	p.R1518C	ENST00000389232.4	37	c.4552	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659498	0.67586	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96940	-4.18;-4.18	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.985	D	0.97286	0.9921	10	0.46703	T	0.11	.	13.1555	0.59514	0.1595:0.8404:0.0:0.0	.	1518;1518	Q15413-2;Q15413	.;RYR3_HUMAN	C	1518	ENSP00000373884:R1518C;ENSP00000399610:R1518C	ENSP00000354735:R1518C	R	+	1	0	RYR3	31739846	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.735000	0.55044	2.515000	0.84797	0.655000	0.94253	CGC	RYR3	-	NULL	ENSG00000198838		0.657	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1		0.00	37	0	C			33952554	+1			no_errors	ENST00000389232	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	34150114	34150114	+	Splice_Site	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:34150114C>T	ENST00000389232.4	+	99	14211	c.14141C>T	c.(14140-14142)aCg>aTg	p.T4714M	RP11-3D4.2_ENST00000560268.1_RNA|RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Splice_Site_p.T4709M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4714					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)		GACATGATGACGGTGAGAGCC	0.582																																																	0													59.0	61.0	60.0					15																	34150114		2155	4275	6430	SO:0001630	splice_region_variant	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.14142+1C>T	15.37:g.34150114C>T			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_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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_dom,pfscan_MIR_motif	p.T4714M	ENST00000389232.4	37	c.14141	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360006	0.82353	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98585	-5.01	4.75	4.75	0.60458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	L	0.39514	1.22	0.58432	D	0.999999	B;P	0.43662	0.088;0.814	B;P	0.50659	0.021;0.647	D	0.97072	0.9778	10	0.36615	T	0.2	.	18.3173	0.90225	0.0:1.0:0.0:0.0	.	4709;4714	Q15413-2;Q15413	.;RYR3_HUMAN	M	4714;4710	ENSP00000373884:T4714M	ENSP00000354735:T4710M	T	+	2	0	RYR3	31937406	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.487000	0.81328	2.624000	0.88883	0.655000	0.94253	ACG	RYR3	-	pfam_Ion_trans_dom	ENSG00000198838		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	42	0	C		Missense_Mutation	34150114	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	63.33	11	19	SNP	1.000	T
SCAF11	9169	genome.wustl.edu	37	12	46355595	46355595	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:46355595C>T	ENST00000369367.3	-	3	340	c.107G>A	c.(106-108)aGt>aAt	p.S36N	SCAF11_ENST00000395454.2_Missense_Mutation_p.S36N|SCAF11_ENST00000395453.2_Missense_Mutation_p.S36N|SCAF11_ENST00000419565.2_Missense_Mutation_p.S36N	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	36					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTCAGCCTCACTGTACAACAG	0.368																																																	0													108.0	104.0	105.0					12																	46355595		1872	4100	5972	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.107G>A	12.37:g.46355595C>T	ENSP00000358374:p.Ser36Asn		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S36N	ENST00000369367.3	37	c.107	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897442	0.33535	.	.	ENSG00000139218	ENST00000369367;ENST00000419565;ENST00000266589;ENST00000395454;ENST00000395453	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	6.06	-1.36	0.09085	.	0.664722	0.12822	U	0.436344	T	0.28499	0.0705	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.22243	-1.0222	10	0.35671	T	0.21	-2.2583	11.5806	0.50889	0.0:0.3018:0.0:0.6982	.	36;36	A8MUK0;Q99590	.;SCAFB_HUMAN	N	36;36;52;36;36	ENSP00000358374:S36N;ENSP00000413036:S36N;ENSP00000266589:S52N;ENSP00000378840:S36N;ENSP00000378839:S36N	ENSP00000266589:S52N	S	-	2	0	SCAF11	44641862	0.733000	0.28132	0.965000	0.40720	0.811000	0.45836	0.033000	0.13754	-0.070000	0.12908	-0.142000	0.14014	AGT	SCAF11	-	NULL	ENSG00000139218		0.368	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2		0.00	24	0	C	NM_004719		46355595	-1			no_errors	ENST00000369367	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.103	T
SCEL	8796	genome.wustl.edu	37	13	78146277	78146277	+	Silent	SNP	G	G	T	rs528874271		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:78146277G>T	ENST00000349847.3	+	9	582	c.498G>T	c.(496-498)ccG>ccT	p.P166P	SCEL_ENST00000377246.3_Silent_p.P166P|SCEL_ENST00000535157.1_Intron	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	166					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GGTTTCCACCGCCCCCTCCAG	0.468																																																	0													133.0	105.0	115.0					13																	78146277		2203	4300	6503	SO:0001819	synonymous_variant	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.498G>T	13.37:g.78146277G>T			B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.P166	ENST00000349847.3	37	c.498	CCDS9459.1	13																																																																																			SCEL	-	NULL	ENSG00000136155		0.468	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	-	0.00	40	0	G	NM_144777		78146277	+1	tier1	-	no_errors	ENST00000349847	ensembl	human	known	74_37	silent	29.63	17	8	SNP	0.982	T
SCN11A	11280	genome.wustl.edu	37	3	38951598	38951598	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:38951598G>A	ENST00000302328.3	-	8	1258	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	SCN11A_ENST00000444237.2_Missense_Mutation_p.R354W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R354W|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000450244.1_Missense_Mutation_p.R354W	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	354					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R354R(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCATCAGCCGGAACATGGCA	0.408																																																	1	Substitution - coding silent(1)	lung(1)											90.0	82.0	85.0					3																	38951598		2203	4300	6503	SO:0001583	missense	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1060C>T	3.37:g.38951598G>A	ENSP00000307599:p.Arg354Trp		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R354W	ENST00000302328.3	37	c.1060	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979323	0.74360	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.24	4.31	0.51392	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98751	0.9580	M	0.93763	3.455	0.39885	D	0.973686	D	0.89917	1.0	D	0.91635	0.999	D	0.99902	1.1166	10	0.87932	D	0	.	14.2107	0.65762	0.0:0.0:0.8183:0.1816	.	354	Q9UI33	SCNBA_HUMAN	W	354	ENSP00000307599:R354W;ENSP00000400945:R354W;ENSP00000416757:R354W;ENSP00000408028:R354W	ENSP00000307599:R354W	R	-	1	2	SCN11A	38926602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.975000	0.49281	1.040000	0.40099	0.557000	0.71058	CGG	SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.408	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0.00	29	0	G	NM_014139		38951598	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	A
SCN2A	6326	genome.wustl.edu	37	2	166201217	166201217	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:166201217G>A	ENST00000375437.2	+	16	3005	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	SCN2A_ENST00000375427.2_Silent_p.K905K|SCN2A_ENST00000357398.3_Silent_p.K905K|SCN2A_ENST00000283256.6_Silent_p.K905K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	905					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTTGGTAAGAGCTACAAAG	0.483																																																	0													182.0	171.0	175.0					2																	166201217		2203	4300	6503	SO:0001819	synonymous_variant	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2715G>A	2.37:g.166201217G>A			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.K905	ENST00000375437.2	37	c.2715	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.483	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0.00	78	0	G	NM_021007		166201217	+1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.979	A
SCN8A	6334	genome.wustl.edu	37	12	52099283	52099283	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:52099283T>A	ENST00000354534.6	+	10	1395	c.1217T>A	c.(1216-1218)aTc>aAc	p.I406N	SCN8A_ENST00000545061.1_Missense_Mutation_p.I406N|SCN8A_ENST00000550891.1_Missense_Mutation_p.I406N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	406					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GTGAACTTGATCTTGGCTGTG	0.448																																																	0													143.0	151.0	149.0					12																	52099283		2133	4277	6410	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1217T>A	12.37:g.52099283T>A	ENSP00000346534:p.Ile406Asn		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.I406N	ENST00000354534.6	37	c.1217	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	T	23.7	4.446844	0.84101	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18	4.96	4.96	0.65561	Ion transport (1);	0.105444	0.64402	D	0.000005	D	0.99381	0.9782	H	0.95679	3.705	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.996	D;D;D;P	0.91635	0.994;0.996;0.999;0.852	D	0.98559	1.0640	10	0.87932	D	0	.	15.1234	0.72463	0.0:0.0:0.0:1.0	.	406;406;406;406	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	N	406;406;406;406;319;204	ENSP00000448415:I406N;ENSP00000346534:I406N;ENSP00000440360:I406N;ENSP00000347255:I406N;ENSP00000447567:I204N	ENSP00000346534:I406N	I	+	2	0	SCN8A	50385550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.222000	0.72286	0.533000	0.62120	ATC	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.448	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0.00	54	0	T	NM_014191		52099283	+1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A
SEC23B	10483	genome.wustl.edu	37	20	18535015	18535015	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:18535015C>T	ENST00000336714.3	+	18	2561	c.2129C>T	c.(2128-2130)aCg>aTg	p.T710M	SEC23B_ENST00000377465.1_Missense_Mutation_p.T710M|SEC23B_ENST00000377475.3_Missense_Mutation_p.T710M|SEC23B_ENST00000262544.2_Missense_Mutation_p.T710M	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	710					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TACATCAACACGGAGCATGGA	0.458																																																	0													150.0	131.0	137.0					20																	18535015		2203	4300	6503	SO:0001583	missense	0			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.2129C>T	20.37:g.18535015C>T	ENSP00000338844:p.Thr710Met		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.T710M	ENST00000336714.3	37	c.2129	CCDS13137.1	20	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808127	0.70797	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	4.69	4.69	0.59074	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.76271	0.3964	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.969;0.992	T	0.81263	-0.1012	10	0.87932	D	0	-16.6122	17.1327	0.86730	0.0:1.0:0.0:0.0	.	692;710	B4DJW8;Q15437	.;SC23B_HUMAN	M	710;710;710;710;189	ENSP00000338844:T710M;ENSP00000262544:T710M;ENSP00000366695:T710M;ENSP00000366685:T710M;ENSP00000409882:T189M	ENSP00000262544:T710M	T	+	2	0	SEC23B	18483015	1.000000	0.71417	0.996000	0.52242	0.558000	0.35554	7.609000	0.82925	2.588000	0.87417	0.655000	0.94253	ACG	SEC23B	-	pfam_Gelsolin_dom	ENSG00000101310		0.458	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEC23B	HGNC	protein_coding	OTTHUMT00000078184.5	-	0.00	40	0	C			18535015	+1	tier1	-	no_errors	ENST00000262544	ensembl	human	known	74_37	missense	38.33	37	23	SNP	1.000	T
SEMA5A	9037	genome.wustl.edu	37	5	9337859	9337859	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:9337859C>T	ENST00000382496.5	-	4	855	c.190G>A	c.(190-192)Gac>Aac	p.D64N		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	64	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTCCTGGGTCAAATGTTAAC	0.363																																																	0													91.0	87.0	88.0					5																	9337859		2203	4300	6503	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.190G>A	5.37:g.9337859C>T	ENSP00000371936:p.Asp64Asn		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.D64N	ENST00000382496.5	37	c.190	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353401	0.82243	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	T;T	0.26810	1.71;1.71	5.21	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.84585	2.705	0.51233	D	0.999919	D	0.89917	1.0	D	0.85130	0.997	T	0.61192	-0.7112	10	0.72032	D	0.01	.	14.6252	0.68616	0.0:1.0:0.0:0.0	.	64	Q13591	SEM5A_HUMAN	N	64	ENSP00000371936:D64N;ENSP00000421961:D64N	ENSP00000371936:D64N	D	-	1	0	SEMA5A	9390859	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.413000	0.66399	2.600000	0.87896	0.655000	0.94253	GAC	SEMA5A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000112902		0.363	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	-	0.00	40	0	C			9337859	-1	tier1	-	no_errors	ENST00000382496	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	T
SF3A1	10291	genome.wustl.edu	37	22	30738219	30738219	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr22:30738219C>T	ENST00000215793.8	-	6	1001	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	SF3A1_ENST00000439242.1_Missense_Mutation_p.E218K	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	283					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCCACTGTTTCCACCACCACA	0.542																																																	0													139.0	111.0	120.0					22																	30738219		2203	4300	6503	SO:0001583	missense	0			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.847G>A	22.37:g.30738219C>T	ENSP00000215793:p.Glu283Lys		E9PAW1	Missense_Mutation	SNP	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.E283K	ENST00000215793.8	37	c.847	CCDS13875.1	22	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935280	0.92458	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	T;T	0.39787	1.06;1.06	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.74589	0.3736	M	0.92077	3.27	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.78753	-0.2081	10	0.66056	D	0.02	-18.9275	20.6439	0.99570	0.0:1.0:0.0:0.0	.	283	Q15459	SF3A1_HUMAN	K	218;283;180	ENSP00000390336:E218K;ENSP00000215793:E283K	ENSP00000215793:E283K	E	-	1	0	SF3A1	29068219	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.773000	0.85462	2.884000	0.98904	0.655000	0.94253	GAA	SF3A1	-	pfam_PRP21-like	ENSG00000099995		0.542	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	HGNC	protein_coding	OTTHUMT00000320916.2	-	0.00	13	0	C	NM_005877		30738219	-1	tier1	-	no_errors	ENST00000215793	ensembl	human	known	74_37	missense	71.43	4	10	SNP	1.000	T
SHARPIN	81858	genome.wustl.edu	37	8	145154929	145154929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:145154929G>T	ENST00000398712.2	-	3	856	c.420C>A	c.(418-420)tgC>tgA	p.C140*	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	140	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGAGACAGGGCATGCTTCTG	0.607																																																	0													208.0	217.0	214.0					8																	145154929		2160	4255	6415	SO:0001587	stop_gained	0			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.420C>A	8.37:g.145154929G>T	ENSP00000381698:p.Cys140*		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Nonsense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.C140*	ENST00000398712.2	37	c.420	CCDS43777.1	8	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047924	0.75846	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	.	.	.	3.82	-0.0768	0.13721	.	1.953930	0.01887	N	0.038268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.385	0.21556	0.4398:0.0:0.5602:0.0	.	.	.	.	X	140	.	ENSP00000352551:C140X	C	-	3	2	SHARPIN	145226917	0.257000	0.24022	0.004000	0.12327	0.031000	0.12232	0.226000	0.17776	-0.132000	0.11557	0.462000	0.41574	TGC	SHARPIN	-	NULL	ENSG00000179526		0.607	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1		0.00	70	0	G	NM_030974		145154929	-1			no_errors	ENST00000398712	ensembl	human	known	74_37	nonsense	5.21	91	5	SNP	0.012	T
SIGLEC7	27036	genome.wustl.edu	37	19	51645917	51645917	+	Silent	SNP	C	C	A	rs373701051		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:51645917C>A	ENST00000317643.6	+	1	360	c.291C>A	c.(289-291)ctC>ctA	p.L97L	SIGLEC7_ENST00000600577.1_Silent_p.L97L|SIGLEC7_ENST00000305628.7_Silent_p.L97L	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	97	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GATTCCACCTCCTTGGGGACC	0.517																																																	0													113.0	109.0	110.0					19																	51645917		2203	4300	6503	SO:0001819	synonymous_variant	0			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.291C>A	19.37:g.51645917C>A			Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L97	ENST00000317643.6	37	c.291	CCDS12826.1	19																																																																																			SIGLEC7	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000168995		0.517	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2	-	0.00	62	0	C	NM_016543		51645917	+1	tier1	-	no_errors	ENST00000317643	ensembl	human	known	74_37	silent	29.17	51	21	SNP	0.053	A
SIPA1L1	26037	genome.wustl.edu	37	14	72054755	72054755	+	Frame_Shift_Del	DEL	C	C	-	rs12884638	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:72054755delC	ENST00000555818.1	+	2	514	c.166delC	c.(166-168)cccfs	p.P57fs	SIPA1L1_ENST00000381232.3_Frame_Shift_Del_p.P57fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Del_p.P57fs	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	57					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCTGTAGGACCCCCCCGAAG	0.532																																																	0													68.0	74.0	72.0					14																	72054755		2203	4300	6503	SO:0001589	frameshift_variant	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.166delC	14.37:g.72054755delC	ENSP00000450832:p.Pro57fs		J3KP19|O95321|Q9UDU4|Q9UNU4	Frame_Shift_Del	DEL	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R58fs	ENST00000555818.1	37	c.166	CCDS9807.1	14																																																																																			SIPA1L1	-	NULL	ENSG00000197555		0.532	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1		0.00	38	0	C	NM_015556		72054755	+1	tier1		no_errors	ENST00000555818	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	1.000	-
SIX3	6496	genome.wustl.edu	37	2	45171797	45171797	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:45171797G>A	ENST00000260653.3	+	2	1239	c.897G>A	c.(895-897)acG>acA	p.T299T	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	299					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGCCGTCCACGGCGGCCAGCC	0.697																																																	0													9.0	11.0	10.0					2																	45171797		1976	3947	5923	SO:0001819	synonymous_variant	0			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.897G>A	2.37:g.45171797G>A			D6W5A5|Q53T42	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T299	ENST00000260653.3	37	c.897	CCDS1821.1	2																																																																																			SIX3	-	NULL	ENSG00000138083		0.697	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1	-	0.00	33	0	G	NM_005413		45171797	+1	tier1	-	no_errors	ENST00000260653	ensembl	human	known	74_37	silent	35.29	11	6	SNP	1.000	A
SLC12A5	57468	genome.wustl.edu	37	20	44669098	44669098	+	Silent	SNP	C	C	T	rs200570265		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:44669098C>T	ENST00000454036.2	+	7	817	c.768C>T	c.(766-768)taC>taT	p.Y256Y	SLC12A5_ENST00000243964.3_Silent_p.Y233Y|SLC12A5_ENST00000372315.1_Silent_p.Y233Y	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	256					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.Y233Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCGTGTTTACGGCACCTGTG	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											362.0	278.0	306.0					20																	44669098		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.768C>T	20.37:g.44669098C>T			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.Y256	ENST00000454036.2	37	c.768	CCDS46610.1	20																																																																																			SLC12A5	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.547	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0.00	28	0	C			44669098	+1	tier1	rs200570265	no_errors	ENST00000454036	ensembl	human	known	74_37	silent	35.29	22	12	SNP	0.999	T
SLC16A14	151473	genome.wustl.edu	37	2	230923853	230923853	+	Silent	SNP	G	G	T	rs367943492		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:230923853G>T	ENST00000295190.4	-	2	674	c.216C>A	c.(214-216)acC>acA	p.T72T	RNY4P19_ENST00000362530.1_RNA	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGACCCAGGCGGTCAGGCCGC	0.532																																																	0													73.0	76.0	75.0					2																	230923853		2203	4300	6503	SO:0001819	synonymous_variant	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.216C>A	2.37:g.230923853G>T			A8KA08|Q53R92|Q96NI7	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T72	ENST00000295190.4	37	c.216	CCDS2473.1	2																																																																																			SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.532	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2		0.00	18	0	G	NM_152527		230923853	-1			no_errors	ENST00000295190	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.003	T
SLC17A5	26503	genome.wustl.edu	37	6	74320149	74320149	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:74320149G>A	ENST00000355773.5	-	9	1501	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	SLC17A5_ENST00000393019.3_Intron	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	411					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATGGTTGATGCTAAATCCAG	0.383																																																	0													106.0	110.0	109.0					6																	74320149		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1233C>T	6.37:g.74320149G>A			Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S411	ENST00000355773.5	37	c.1233	CCDS4981.1	6																																																																																			SLC17A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119899		0.383	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A5	HGNC	protein_coding	OTTHUMT00000041228.1	-	0.00	43	0	G			74320149	-1	tier1	-	no_errors	ENST00000355773	ensembl	human	known	74_37	silent	7.84	46	4	SNP	1.000	A
SLC22A31	146429	genome.wustl.edu	37	16	89267881	89267882	+	Frame_Shift_Ins	INS	-	-	A	rs576591743		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:89267881_89267882insA	ENST00000562855.2	-	1	190_191	c.191_192insT	c.(190-192)ctgfs	p.L64fs				A6NKX4	S22AV_HUMAN	solute carrier family 22, member 31	64					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)										CGGGTCCGCGCAGGGCGCGCAG	0.777																																																	0																																										SO:0001589	frameshift_variant	0				CCDS73927.1	16q24.3	2014-02-12	2011-07-12		ENSG00000259803	ENSG00000259803		"""Solute carriers"""	27091	protein-coding gene	gene with protein product							Standard	NM_001242757		Approved		uc021tmr.1	A6NKX4	OTTHUMG00000175615	ENST00000562855.2:c.192dupT	16.37:g.89267882_89267882dupA	ENSP00000474621:p.Leu64fs			Frame_Shift_Ins	INS	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R65fs	ENST00000562855.2	37	c.192_191		16																																																																																			SLC22A31	-	NULL	ENSG00000259803		0.777	SLC22A31-006	NOVEL	basic|appris_principal	protein_coding	SLC22A31	HGNC	protein_coding	OTTHUMT00000469767.1		0.00	13	0	-	NM_001242757		89267882	-1	tier1		no_errors	ENST00000562855	ensembl	human	novel	74_37	frame_shift_ins	50.00	2	2	INS	0.006:0.045	A
SLC22A4	6583	genome.wustl.edu	37	5	131630483	131630483	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:131630483G>A	ENST00000200652.3	+	1	348	c.174G>A	c.(172-174)ctG>ctA	p.L58L	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	58					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.L58L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	CCGCGAACCTGAGCAGCGCCT	0.682																																																	1	Substitution - coding silent(1)	lung(1)											29.0	35.0	33.0					5																	131630483		2203	4299	6502	SO:0001819	synonymous_variant	0			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.174G>A	5.37:g.131630483G>A			O14546	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.L58	ENST00000200652.3	37	c.174	CCDS4153.1	5																																																																																			SLC22A4	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Orgcat_transp	ENSG00000197208		0.682	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A4	HGNC	protein_coding	OTTHUMT00000132661.1		0.00	27	0	G	NM_003059		131630483	+1			no_errors	ENST00000200652	ensembl	human	known	74_37	silent	10.00	18	2	SNP	1.000	A
SLC30A8	169026	genome.wustl.edu	37	8	118183343	118183343	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:118183343G>A	ENST00000456015.2	+	7	900	c.900G>A	c.(898-900)gtG>gtA	p.V300V	SLC30A8_ENST00000427715.2_Silent_p.V251V|SLC30A8_ENST00000519688.1_Silent_p.V251V|SLC30A8_ENST00000521243.1_Silent_p.V251V	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	300					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCTGTCTGTGCACAGCCTGC	0.453																																					Ovarian(162;1202 1922 6011 16223 52092)												0													191.0	174.0	180.0					8																	118183343		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.900G>A	8.37:g.118183343G>A			A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.V300	ENST00000456015.2	37	c.900	CCDS6322.1	8																																																																																			SLC30A8	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000164756		0.453	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A8	HGNC	protein_coding	OTTHUMT00000381205.1	-	0.00	34	0	G	NM_173851		118183343	+1	tier1	-	no_errors	ENST00000456015	ensembl	human	known	74_37	silent	37.50	30	18	SNP	0.997	A
SLC38A6	145389	genome.wustl.edu	37	14	61519066	61519066	+	Splice_Site	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:61519066G>A	ENST00000267488.4	+	16	1406		c.e16-1		SLC38A6_ENST00000354886.2_Intron|SLC38A6_ENST00000456840.2_Intron	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.?(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		tatttcCACAGGCATTCGTTT	0.249																																																	1	Unknown(1)	skin(1)											66.0	63.0	64.0					14																	61519066		2193	4290	6483	SO:0001630	splice_region_variant	0			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.1291-1G>A	14.37:g.61519066G>A			C9JWA6|Q86SY5	Splice_Site	SNP	-	e16-1	ENST00000267488.4	37	c.1291-1	CCDS9751.1	14	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512447	0.27123	.	.	ENSG00000139974	ENST00000267488;ENST00000529212	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6577	0.91460	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC38A6	60588819	1.000000	0.71417	0.982000	0.44146	0.138000	0.21146	4.681000	0.61663	2.624000	0.88883	0.650000	0.86243	.	SLC38A6	-	-	ENSG00000139974		0.249	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A6	HGNC	protein_coding	OTTHUMT00000276957.1		0.00	25	0	G		Intron	61519066	+1			no_errors	ENST00000267488	ensembl	human	known	74_37	splice_site	8.70	21	2	SNP	1.000	A
SLC6A6	6533	genome.wustl.edu	37	3	14485184	14485184	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:14485184C>T	ENST00000454876.2	+	3	371	c.42C>T	c.(40-42)caC>caT	p.H14H	SLC6A6_ENST00000360861.3_Silent_p.H14H|SLC6A6_ENST00000484191.1_Intron|SLC6A6_ENST00000416216.2_Silent_p.H14H			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	14					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						AAGATTTCCACAAGGACATCC	0.562																																																	0													96.0	91.0	93.0					3																	14485184		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.42C>T	3.37:g.14485184C>T			B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.H14	ENST00000454876.2	37	c.42	CCDS33705.1	3																																																																																			SLC6A6	-	NULL	ENSG00000131389		0.562	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1	-	0.00	53	0	C	NM_003043		14485184	+1	tier1	-	no_errors	ENST00000360861	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T
SLK	9748	genome.wustl.edu	37	10	105762238	105762238	+	Silent	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:105762238T>C	ENST00000369755.3	+	9	1847	c.1302T>C	c.(1300-1302)ccT>ccC	p.P434P	SLK_ENST00000335753.4_Silent_p.P434P	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	434	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAATCTGCCTGACACAGAAG	0.368																																					NSCLC(111;540 1651 1927 4474 17706)												0													106.0	117.0	113.0					10																	105762238		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1302T>C	10.37:g.105762238T>C			D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Silent	SNP	pfam_PKK,pfam_Prot_kinase_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_UVR_dom,pfscan_Prot_kinase_dom	p.P434	ENST00000369755.3	37	c.1302	CCDS7553.1	10																																																																																			SLK	-	superfamily_Kinase-like_dom	ENSG00000065613		0.368	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1		0.00	23	0	T	NM_014720		105762238	+1			no_errors	ENST00000369755	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.001	C
SMIM2	79024	genome.wustl.edu	37	13	44734943	44734943	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:44734943G>T	ENST00000400419.1	-	2	237	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	SMIM2-IT1_ENST00000415082.1_RNA|SMIM2-AS1_ENST00000437867.1_RNA	NM_024058.2	NP_076963.1	Q9BVW6	SMIM2_HUMAN	small integral membrane protein 2	17						integral component of membrane (GO:0016021)											CGTGTTTCCAGCACCCTGTGA	0.522																																																	0																																										SO:0001583	missense	0			BC000868	CCDS61320.1	13q14.11	2012-07-11	2012-07-11	2012-07-11	ENSG00000139656	ENSG00000139656			28776	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 44"""	C13orf44		12477932	Standard	NM_024058		Approved	MGC5590		Q9BVW6	OTTHUMG00000016831	ENST00000400419.1:c.49C>A	13.37:g.44734943G>T	ENSP00000383270:p.Leu17Met		Q5SZS7	Missense_Mutation	SNP	NULL	p.L17M	ENST00000400419.1	37	c.49		13	.	.	.	.	.	.	.	.	.	.	G	6.949	0.544996	0.13312	.	.	ENSG00000139656	ENST00000400419	.	.	.	4.87	1.11	0.20524	.	.	.	.	.	T	0.47266	0.1436	.	.	.	.	.	.	.	.	.	.	.	.	T	0.55909	-0.8066	4	0.87932	D	0	.	5.728	0.18024	0.0:0.5058:0.3219:0.1723	.	.	.	.	M	17	.	ENSP00000383270:L17M	L	-	1	2	RP11-478K15.4	43632943	0.000000	0.05858	0.001000	0.08648	0.246000	0.25737	-0.035000	0.12205	0.051000	0.15978	-0.344000	0.07964	CTG	SMIM2	-	NULL	ENSG00000139656		0.522	SMIM2-001	KNOWN	basic|appris_principal	protein_coding	SMIM2	HGNC	protein_coding	OTTHUMT00000044734.2	-	0.00	51	0	G			44734943	-1	tier1	-	no_errors	ENST00000400419	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.004	T
SMPDL3A	10924	genome.wustl.edu	37	6	123116897	123116897	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:123116897C>T	ENST00000368440.4	+	2	365	c.188C>T	c.(187-189)gCt>gTt	p.A63V	SMPDL3A_ENST00000487215.1_3'UTR|SMPDL3A_ENST00000539041.1_Intron	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	63					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AAAGTGTGTGCTTCATCTAAA	0.393																																																	0													153.0	136.0	142.0					6																	123116897		2203	4300	6503	SO:0001583	missense	0			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.188C>T	6.37:g.123116897C>T	ENSP00000357425:p.Ala63Val		B7Z729|Q8WV13	Missense_Mutation	SNP	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.A63V	ENST00000368440.4	37	c.188	CCDS5128.1	6	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808678	0.31961	.	.	ENSG00000172594	ENST00000368440	D	0.95103	-3.61	5.27	5.27	0.74061	Metallophosphoesterase domain (1);	0.406299	0.29745	N	0.011309	D	0.85531	0.5718	L	0.34521	1.04	0.80722	D	1	B	0.24317	0.101	B	0.28385	0.089	T	0.81174	-0.1053	10	0.17369	T	0.5	-7.32	12.5889	0.56432	0.0:0.9235:0.0:0.0765	.	63	Q92484	ASM3A_HUMAN	V	63	ENSP00000357425:A63V	ENSP00000357425:A63V	A	+	2	0	SMPDL3A	123158596	0.749000	0.28305	0.865000	0.33974	0.956000	0.61745	2.824000	0.48088	2.614000	0.88457	0.650000	0.86243	GCT	SMPDL3A	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000172594		0.393	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1	-	0.00	47	0	C	NM_006714		123116897	+1	tier1	-	no_errors	ENST00000368440	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.946	T
SNHG14	104472715	genome.wustl.edu	37	15	25492311	25492311	+	RNA	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:25492311G>A	ENST00000453082.2	+	0	2772				SNORD115-42_ENST00000364273.1_RNA|SNORD115-43_ENST00000365503.1_RNA|SNORD115-41_ENST00000363608.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		CAGATGGTGAGACCGGAGGAA	0.582																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25492311G>A				RNA	SNP	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.582	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126730.2	-	0.00	22	0	G			25492311	+1	tier1	-	no_errors	ENST00000453082	ensembl	human	known	74_37	rna	23.33	23	7	SNP	0.000	A
SPHK2	56848	genome.wustl.edu	37	19	49129197	49129197	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:49129197C>T	ENST00000245222.4	+	3	455	c.89C>T	c.(88-90)aCc>aTc	p.T30I	AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000599748.1_5'UTR|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000443164.1_Missense_Mutation_p.T92I|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000601712.1_Intron|AC022154.7_ENST00000594850.1_RNA|SPHK2_ENST00000340932.3_5'UTR|SPHK2_ENST00000598088.1_Missense_Mutation_p.T30I|AC022154.7_ENST00000598735.1_RNA	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	30	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCTAGGAGCACCCTGGTCAGG	0.692																																																	0													21.0	22.0	22.0					19																	49129197		2200	4299	6499	SO:0001583	missense	0			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.89C>T	19.37:g.49129197C>T	ENSP00000245222:p.Thr30Ile		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.T92I	ENST00000245222.4	37	c.275	CCDS12727.1	19	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537090	0.27475	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000443164	T;T	0.26067	2.24;1.76	3.71	3.71	0.42584	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.40012	D	0.975305	B;B	0.23650	0.089;0.037	B;B	0.20955	0.032;0.014	T	0.09335	-1.0679	9	0.62326	D	0.03	-11.4931	11.1886	0.48671	0.0:1.0:0.0:0.0	.	92;30	A0T4C8;Q9NRA0	.;SPHK2_HUMAN	I	30;30;92	ENSP00000245222:T30I;ENSP00000413369:T92I	ENSP00000245222:T30I	T	+	2	0	SPHK2	53821009	0.005000	0.15991	0.075000	0.20258	0.978000	0.69477	0.328000	0.19681	2.083000	0.62718	0.462000	0.41574	ACC	SPHK2	-	NULL	ENSG00000063176		0.692	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	-	0.00	64	0	C			49129197	+1	tier1	-	no_errors	ENST00000443164	ensembl	human	known	74_37	missense	28.99	48	20	SNP	0.224	T
SRGAP3	9901	genome.wustl.edu	37	3	9121758	9121758	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:9121758C>T	ENST00000383836.3	-	4	864	c.437G>A	c.(436-438)gGc>gAc	p.G146D	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.G146D	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	146	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CATCTGCAGGCCAATCTCCTT	0.488			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													119.0	108.0	112.0					3																	9121758		2203	4300	6503	SO:0001583	missense	0			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.437G>A	3.37:g.9121758C>T	ENSP00000373347:p.Gly146Asp		Q8IX13|Q8IZV8	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.G146D	ENST00000383836.3	37	c.437	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045896	0.75846	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.15718	2.4;2.4	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.996;0.992	T	0.38394	-0.9663	10	0.40728	T	0.16	.	13.1026	0.59228	0.0:1.0:0.0:0.0	.	146;15;146;146	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	D	146;146;26	ENSP00000373347:G146D;ENSP00000353587:G146D	ENSP00000353587:G146D	G	-	2	0	SRGAP3	9096758	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.186000	0.65082	2.145000	0.66743	0.467000	0.42956	GGC	SRGAP3	-	NULL	ENSG00000196220		0.488	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	-	0.00	30	0	C			9121758	-1	tier1	-	no_errors	ENST00000383836	ensembl	human	known	74_37	missense	20.00	15	4	SNP	1.000	T
SRRM4	84530	genome.wustl.edu	37	12	119594488	119594488	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:119594488G>T	ENST00000267260.4	+	13	2109	c.1721G>T	c.(1720-1722)aGc>aTc	p.S574I		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	574	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGCTCCCGCAGCCCTAGTCCG	0.726																																																	0													3.0	5.0	5.0					12																	119594488		1822	3845	5667	SO:0001583	missense	0			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1721G>T	12.37:g.119594488G>T	ENSP00000267260:p.Ser574Ile		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	NULL	p.S574I	ENST00000267260.4	37	c.1721	CCDS44994.1	12	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542424	0.45280	.	.	ENSG00000139767	ENST00000267260	T	0.27720	1.65	5.31	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.28134	0.0694	N	0.08118	0	0.29688	N	0.841135	D	0.76494	0.999	D	0.67548	0.952	T	0.06499	-1.0823	9	.	.	.	-3.9701	8.1555	0.31167	0.2262:0.0:0.7738:0.0	.	574	A7MD48	SRRM4_HUMAN	I	574	ENSP00000267260:S574I	.	S	+	2	0	SRRM4	118078871	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.444000	0.52914	2.658000	0.90341	0.650000	0.86243	AGC	SRRM4	-	NULL	ENSG00000139767		0.726	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	-	0.00	20	0	G	NM_194286		119594488	+1	tier1	-	no_errors	ENST00000267260	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.999	T
SSTR1	6751	genome.wustl.edu	37	14	38678997	38678997	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:38678997A>G	ENST00000267377.2	+	3	1020	c.403A>G	c.(403-405)Agc>Ggc	p.S135G		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	135					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CCTCGTGCTCAGCGTGGACGC	0.622																																																	0													170.0	156.0	161.0					14																	38678997		2203	4300	6503	SO:0001583	missense	0				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.403A>G	14.37:g.38678997A>G	ENSP00000267377:p.Ser135Gly			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt	p.S135G	ENST00000267377.2	37	c.403	CCDS9666.1	14	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495158	0.64186	.	.	ENSG00000139874	ENST00000267377	T	0.19938	2.11	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.25382	0.0617	L	0.48877	1.53	0.54753	D	0.999986	B	0.24920	0.114	B	0.35278	0.199	T	0.07158	-1.0787	10	0.56958	D	0.05	.	13.7174	0.62705	1.0:0.0:0.0:0.0	.	135	P30872	SSR1_HUMAN	G	135	ENSP00000267377:S135G	ENSP00000267377:S135G	S	+	1	0	SSTR1	37748748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.317000	0.79018	2.034000	0.60081	0.459000	0.35465	AGC	SSTR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt	ENSG00000139874		0.622	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR1	HGNC	protein_coding	OTTHUMT00000409930.2	-	0.00	24	0	A			38678997	+1	tier1	-	no_errors	ENST00000267377	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	G
SYNE1	23345	genome.wustl.edu	37	6	152751266	152751266	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:152751266T>G	ENST00000367255.5	-	36	5370	c.4769A>C	c.(4768-4770)aAa>aCa	p.K1590T	SYNE1_ENST00000448038.1_Missense_Mutation_p.K1597T|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1660T|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1597T|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1590T|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1590T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1590					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGAAGAACTTTGTATGTTTC	0.299										HNSCC(10;0.0054)																																							0													50.0	47.0	48.0					6																	152751266		2200	4289	6489	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4769A>C	6.37:g.152751266T>G	ENSP00000356224:p.Lys1590Thr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K1590T	ENST00000367255.5	37	c.4769	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	10.35	1.324855	0.24080	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.97	2.17	0.27698	.	0.271390	0.32081	N	0.006609	T	0.27027	0.0662	L	0.53249	1.67	0.80722	D	1	B;P;P;P;P	0.51240	0.361;0.905;0.493;0.905;0.943	B;B;P;B;P	0.51453	0.177;0.394;0.447;0.394;0.67	T	0.22800	-1.0206	10	0.18710	T	0.47	.	2.1137	0.03708	0.116:0.2476:0.1201:0.5163	.	1573;1590;1590;1590;1597	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	T	1590;1597;1590;1597;1660;1590	ENSP00000356224:K1590T;ENSP00000396024:K1597T;ENSP00000265368:K1590T;ENSP00000390975:K1597T;ENSP00000341887:K1660T;ENSP00000356222:K1590T	ENSP00000265368:K1590T	K	-	2	0	SYNE1	152792959	0.290000	0.24343	1.000000	0.80357	0.991000	0.79684	-0.137000	0.10389	0.478000	0.27488	0.528000	0.53228	AAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.299	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	51	0	T	NM_182961		152751266	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	58.82	21	30	SNP	0.995	G
SYT10	341359	genome.wustl.edu	37	12	33560014	33560014	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:33560014A>G	ENST00000228567.3	-	3	1083	c.787T>C	c.(787-789)Ttc>Ctc	p.F263L	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_Missense_Mutation_p.F82L|RP11-438D14.2_ENST00000561632.1_lincRNA	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	263	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTTCCTGTGAAGTCTTTAGCA	0.358																																																	0													59.0	59.0	59.0					12																	33560014		2203	4300	6503	SO:0001583	missense	0			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.787T>C	12.37:g.33560014A>G	ENSP00000228567:p.Phe263Leu		Q495U2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.F263L	ENST00000228567.3	37	c.787	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	A	12.60	1.988106	0.35036	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.67865	-0.29;-0.29	4.94	3.79	0.43588	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.43747	U	0.000535	T	0.39655	0.1086	N	0.01631	-0.79	0.53688	D	0.999979	B	0.21452	0.056	B	0.33196	0.159	T	0.16541	-1.0399	10	0.20046	T	0.44	.	10.23	0.43250	0.9205:0.0:0.0795:0.0	.	263	Q6XYQ8	SYT10_HUMAN	L	263;82	ENSP00000228567:F263L;ENSP00000438691:F82L	ENSP00000228567:F263L	F	-	1	0	SYT10	33451281	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	5.804000	0.69135	0.981000	0.38548	0.460000	0.39030	TTC	SYT10	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	ENSG00000110975		0.358	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	-	0.00	49	0	A	NM_198992		33560014	-1	tier1	-	no_errors	ENST00000228567	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	G
TBC1D3P2	440452	genome.wustl.edu	37	17	60342164	60342164	+	RNA	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:60342164G>A	ENST00000581291.1	-	0	1989									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						AATTCAGAACGATGGTCGTGG	0.502																																																	0																																												0					17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342164G>A				RNA	SNP	-	NULL	ENST00000581291.1	37	NULL		17																																																																																			TBC1D3P2	-	-	ENSG00000188755		0.502	TBC1D3P2-002	KNOWN	basic	processed_transcript	TBC1D3P2	HGNC	pseudogene	OTTHUMT00000445021.1	-	0.00	33	0	G	NR_027486		60342164	-1	tier1	-	no_errors	ENST00000581291	ensembl	human	known	74_37	rna	15.79	32	6	SNP	0.004	A
TDRD10	126668	genome.wustl.edu	37	1	154517337	154517337	+	Silent	SNP	C	C	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:154517337C>A	ENST00000368480.3	+	11	949	c.864C>A	c.(862-864)gcC>gcA	p.A288A	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Silent_p.A288A			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	288	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A288A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACAGTTGGCCACCATCCCTG	0.542																																																	1	Substitution - coding silent(1)	lung(1)											224.0	191.0	202.0					1																	154517337		2203	4300	6503	SO:0001819	synonymous_variant	0			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.864C>A	1.37:g.154517337C>A			A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A288	ENST00000368480.3	37	c.864	CCDS41406.1	1																																																																																			TDRD10	-	pfam_Tudor	ENSG00000163239		0.542	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2		0.00	29	0	C	NM_182499		154517337	+1			no_errors	ENST00000368480	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.775	A
TENM3	55714	genome.wustl.edu	37	4	183267981	183267981	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr4:183267981delG	ENST00000511685.1	+	3	533	c.410delG	c.(409-411)aggfs	p.R137fs	TENM3_ENST00000406950.2_Frame_Shift_Del_p.R137fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	137	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTTTGGGGCAGGGGGGTCAAA	0.547																																																	0													49.0	54.0	53.0					4																	183267981		2013	4183	6196	SO:0001589	frameshift_variant	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.410delG	4.37:g.183267981delG	ENSP00000424226:p.Arg137fs		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Del	DEL	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V139fs	ENST00000511685.1	37	c.410	CCDS47165.1	4																																																																																			TENM3	-	pfam_Ten_N	ENSG00000218336		0.547	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1		0.00	58	0	G			183267981	+1	tier1		no_errors	ENST00000406950	ensembl	human	known	74_37	frame_shift_del	53.85	6	7	DEL	1.000	-
TENM3	55714	genome.wustl.edu	37	4	183267987	183267987	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr4:183267987T>C	ENST00000511685.1	+	3	539	c.416T>C	c.(415-417)gTc>gCc	p.V139A	TENM3_ENST00000406950.2_Missense_Mutation_p.V139A			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	139	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGCAGGGGGGTCAAATCAGGC	0.537																																																	0													54.0	59.0	57.0					4																	183267987		2020	4187	6207	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.416T>C	4.37:g.183267987T>C	ENSP00000424226:p.Val139Ala		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V139A	ENST00000511685.1	37	c.416	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557101	0.27827	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.30714	1.52;1.52;1.52	4.88	4.88	0.63580	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.22205	0.0535	N	0.22421	0.69	0.32630	N	0.522135	B;B	0.23249	0.082;0.001	B;B	0.24006	0.05;0.003	T	0.17471	-1.0368	9	0.17832	T	0.49	.	14.6602	0.68865	0.0:0.0:0.0:1.0	.	139;139	D6RGC5;Q9P273	.;TEN3_HUMAN	A	139	ENSP00000421320:V139A;ENSP00000424226:V139A;ENSP00000385276:V139A	ENSP00000385276:V139A	V	+	2	0	ODZ3	183504981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.967000	0.56802	2.047000	0.60756	0.460000	0.39030	GTC	TENM3	-	pfam_Ten_N	ENSG00000218336		0.537	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0.00	52	0	T			183267987	+1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	72.73	3	8	SNP	1.000	C
TFAP2B	7021	genome.wustl.edu	37	6	50789793	50789793	+	Intron	DEL	T	T	-	rs36011604|rs182646289	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:50789793delT	ENST00000393655.3	+	2	250				TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000263046.4_Intron	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)						aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GACTCCTTGATTTTTTTTTTA	0.403													|||unknown(HR)	751	0.14996	0.211	0.0879	5008	,	,		15843	0.1429		0.1143	False		,,,				2504	0.1554				Pancreas(116;1373 2332 5475 10752)												0																																										SO:0001627	intron_variant	0			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.82-1327T>-	6.37:g.50789793delT			Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	RNA	DEL	-	NULL	ENST00000393655.3	37	NULL	CCDS4934.2	6																																																																																			TFAP2B	-	-	ENSG00000008196		0.403	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3		0.00	42	0	T	NM_003221		50789793	+1	tier1		no_errors	ENST00000489228	ensembl	human	known	74_37	rna	11.11	40	5	DEL	0.009	-
TMEFF1	8577	genome.wustl.edu	37	9	103261069	103261069	+	Missense_Mutation	SNP	C	C	A	rs201169780		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:103261069C>A	ENST00000374879.4	+	2	651	c.219C>A	c.(217-219)gaC>gaA	p.D73E	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.R37S|TMEFF1_ENST00000334943.6_Missense_Mutation_p.D34E	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	73					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				GGGAGTCTGACGTAAGAGTTT	0.383																																																	0													144.0	145.0	145.0					9																	103261069		2203	4300	6503	SO:0001583	missense	0			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.219C>A	9.37:g.103261069C>A	ENSP00000364013:p.Asp73Glu		Q13086|Q8N3T8	Missense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom	p.D73E	ENST00000374879.4	37	c.219	CCDS6750.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.36|11.36	1.616214|1.616214	0.28801|0.28801	.|.	.|.	ENSG00000241697|ENSG00000251349	ENST00000334943;ENST00000374879|ENST00000502978	T;T|.	0.58060|.	0.36;0.41|.	5.76|5.76	0.802|0.802	0.18686|0.18686	Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.26919|0.26919	0.0659|0.0659	N|N	0.15975|0.15975	0.35|0.35	0.34216|0.34216	D|D	0.67488|0.67488	B;B|.	0.29188|.	0.236;0.095|.	B;B|.	0.36989|.	0.238;0.077|.	T|T	0.28554|0.28554	-1.0040|-1.0040	10|5	0.28530|.	T|.	0.3|.	-12.518|-12.518	4.4576|4.4576	0.11650|0.11650	0.1417:0.3247:0.0:0.5337|0.1417:0.3247:0.0:0.5337	.|.	73;34|.	Q8IYR6;Q8IYR6-2|.	TEFF1_HUMAN;.|.	E|S	34;73|37	ENSP00000334447:D34E;ENSP00000364013:D73E|.	ENSP00000334447:D34E|.	D|R	+|+	3|1	2|0	TMEFF1|C9orf30-TMEFF1	102300890|102300890	0.935000|0.935000	0.31712|0.31712	0.559000|0.559000	0.28332|0.28332	0.800000|0.800000	0.45204|0.45204	-0.118000|-0.118000	0.10692|0.10692	-0.025000|-0.025000	0.13918|0.13918	-1.708000|-1.708000	0.00717|0.00717	GAC|CGT	TMEFF1	-	NULL	ENSG00000241697		0.383	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF1	HGNC	protein_coding	OTTHUMT00000053418.1	-	0.00	43	0	C	NM_003692		103261069	+1	tier1	-	no_errors	ENST00000374879	ensembl	human	known	74_37	missense	20.93	34	9	SNP	0.949	A
TMEM136	219902	genome.wustl.edu	37	11	120198134	120198134	+	Intron	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:120198134G>T	ENST00000375095.2	+	2	240				TMEM136_ENST00000529187.1_Missense_Mutation_p.W17L|TMEM136_ENST00000314475.2_Missense_Mutation_p.W17L|TMEM136_ENST00000531346.1_Intron	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136							integral component of membrane (GO:0016021)		p.W17*(1)		endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		TTCTGGTTTTGGTCTTTTCAT	0.413																																																	1	Substitution - Nonsense(1)	ovary(1)											178.0	165.0	169.0					11																	120198134		2203	4299	6502	SO:0001627	intron_variant	0			BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.-1-16G>T	11.37:g.120198134G>T			B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.W17L	ENST00000375095.2	37	c.50	CCDS55793.1	11	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787243	0.31593	.	.	ENSG00000181264	ENST00000314475;ENST00000529187	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07927	-1.0747	7	0.27082	T	0.32	.	7.7709	0.29008	0.0808:0.0:0.7133:0.2059	.	17;17	Q6ZRR5-3;Q6ZRR5-4	.;.	L	17	.	ENSP00000312672:W17L	W	+	2	0	TMEM136	119703344	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	2.756000	0.47549	2.629000	0.89072	0.655000	0.94253	TGG	TMEM136	-	NULL	ENSG00000181264		0.413	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM136	HGNC	protein_coding	OTTHUMT00000388045.1		0.00	47	0	G	NM_174926		120198134	+1			no_errors	ENST00000314475	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.362	T
TMEM237	65062	genome.wustl.edu	37	2	202501519	202501519	+	Missense_Mutation	SNP	G	G	T	rs367728637		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:202501519G>T	ENST00000409883.2	-	5	342	c.226C>A	c.(226-228)Cca>Aca	p.P76T	TMEM237_ENST00000409444.2_Missense_Mutation_p.P68T	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	76					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						GGAGCCTCTGGGTGCTCTTTG	0.448																																																	0								G	THR/PRO,THR/PRO	0,3678		0,0,1839	67.0	62.0	64.0		202,226	2.2	0.6	2		64	1,8191		0,1,4095	no	missense,missense	TMEM237	NM_152388.2,NM_001044385.1	38,38	0,1,5934	TT,TG,GG		0.0122,0.0,0.0084	benign,benign	68/401,76/409	202501519	1,11869	1839	4096	5935	SO:0001583	missense	0			AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.226C>A	2.37:g.202501519G>T	ENSP00000386264:p.Pro76Thr		B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	NULL	p.P76T	ENST00000409883.2	37	c.226	CCDS46489.1	2	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585586	0.28268	0.0	1.22E-4	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684	T;T	0.41400	1.0;1.0	5.09	2.18	0.27775	.	0.433247	0.18498	N	0.139434	T	0.33585	0.0868	L	0.51422	1.61	0.23886	N	0.996567	B;B	0.34290	0.447;0.447	B;B	0.32533	0.147;0.147	T	0.12785	-1.0534	9	.	.	.	-0.7048	9.8423	0.41006	0.0731:0.2607:0.6662:0.0	.	76;100	E9PAR8;Q96Q45	.;TM237_HUMAN	T	68;76;76;98	ENSP00000387203:P68T;ENSP00000386264:P76T	.	P	-	1	0	TMEM237	202209764	0.709000	0.27886	0.562000	0.28370	0.706000	0.40770	1.850000	0.39328	0.684000	0.31448	0.650000	0.86243	CCA	TMEM237	-	NULL	ENSG00000155755		0.448	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM237	HGNC	protein_coding	OTTHUMT00000335753.1	-	0.00	32	0	G	NM_152388		202501519	-1	tier1	-	no_errors	ENST00000409883	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.521	T
TNFRSF8	943	genome.wustl.edu	37	1	12175723	12175723	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:12175723A>G	ENST00000263932.2	+	8	1105	c.883A>G	c.(883-885)Aac>Gac	p.N295D	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.N184D	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	295					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	ATCAGCCACCAACTCCCGTGC	0.607																																																	0													153.0	114.0	127.0					1																	12175723		2203	4300	6503	SO:0001583	missense	0			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.883A>G	1.37:g.12175723A>G	ENSP00000263932:p.Asn295Asp		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.N295D	ENST00000263932.2	37	c.883	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479189	0.44044	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.07216	3.21;3.21	3.83	-0.327	0.12694	.	3.372290	0.01051	N	0.004469	T	0.21103	0.0508	L	0.55213	1.73	0.30555	N	0.765094	D;P	0.69078	0.997;0.931	D;P	0.75020	0.985;0.657	T	0.13629	-1.0502	10	0.39692	T	0.17	-18.6372	3.9044	0.09176	0.4208:0.197:0.0:0.3823	.	184;295	D3YTD8;P28908	.;TNR8_HUMAN	D	295;184	ENSP00000263932:N295D;ENSP00000390650:N184D	ENSP00000263932:N295D	N	+	1	0	TNFRSF8	12098310	0.922000	0.31269	0.972000	0.41901	0.726000	0.41606	1.015000	0.29963	0.149000	0.19098	0.383000	0.25322	AAC	TNFRSF8	-	NULL	ENSG00000120949		0.607	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	-	0.00	32	0	A			12175723	+1	tier1	-	no_errors	ENST00000263932	ensembl	human	known	74_37	missense	40.74	16	11	SNP	0.917	G
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	GMAF=0.0005	0.00	17	0	C	NM_000546		7577120	-1	tier1	rs28934576	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.864	T
TP53	7157	genome.wustl.edu	37	17	7579536	7579536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:7579536C>A	ENST00000269305.4	-	4	340	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E51*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E51*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E51*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.E51*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E51*	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	51	Interaction with HRMT1L2.				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.0?(8)|p.E51*(6)|p.E51fs*6(3)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.E51fs*72(1)|p.P13fs*18(1)|p.S33fs*23(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)	AACCATTGTTCAATATCGTCC	0.592		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	23	Whole gene deletion(8)|Substitution - Nonsense(6)|Deletion - Frameshift(6)|Insertion - Frameshift(3)	ovary(5)|bone(4)|skin(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|kidney(1)|breast(1)|prostate(1)|pancreas(1)											169.0	168.0	168.0					17																	7579536		2203	4300	6503	SO:0001587	stop_gained	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.151G>T	17.37:g.7579536C>A	ENSP00000269305:p.Glu51*		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	Nonsense_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.E51*	ENST00000269305.4	37	c.151	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718125	0.48622	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.77	0.663	0.17885	.	1.997220	0.02241	N	0.065738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	0.6634	5.7343	0.18057	0.0:0.6465:0.0:0.3535	.	.	.	.	X	51	.	ENSP00000269305:E51X	E	-	1	0	TP53	7520261	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.943000	0.03917	0.194000	0.20326	0.561000	0.74099	GAA	TP53	-	NULL	ENSG00000141510		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	68	0	C	NM_000546		7579536	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	26.67	44	16	SNP	0.001	A
TPO	7173	genome.wustl.edu	37	2	1499881	1499881	+	Missense_Mutation	SNP	C	C	G	rs199561216		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:1499881C>G	ENST00000345913.4	+	12	2218	c.2127C>G	c.(2125-2127)ttC>ttG	p.F709L	TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.F536L|TPO_ENST00000346956.3_Missense_Mutation_p.F709L|TPO_ENST00000382201.3_Missense_Mutation_p.F652L|TPO_ENST00000337415.3_Missense_Mutation_p.F709L|TPO_ENST00000329066.4_Missense_Mutation_p.F709L|TPO_ENST00000382198.1_Missense_Mutation_p.F536L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	709					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGGATGCCTTCCAAGTCGGCA	0.557																																																	0													68.0	64.0	65.0					2																	1499881		2203	4300	6503	SO:0001583	missense	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2127C>G	2.37:g.1499881C>G	ENSP00000318820:p.Phe709Leu		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.F709L	ENST00000345913.4	37	c.2127	CCDS1643.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.30|13.30	2.197090|2.197090	0.38806|0.38806	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607|ENST00000446278	T;T;T;T;T;T;T;T;T|.	0.80566|.	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39|.	4.59|4.59	0.255|0.255	0.15561|0.15561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74496|0.74496	0.3724|0.3724	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.999;0.999;1.0|.	T|T	0.73357|0.73357	-0.4008|-0.4008	10|5	0.87932|.	D|.	0|.	-35.6|-35.6	8.7669|8.7669	0.34708|0.34708	0.0:0.3298:0.0:0.6702|0.0:0.3298:0.0:0.6702	.|.	709;536;652;709|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	L|C	709;709;709;536;709;652;536;638;183|184	ENSP00000337263:F709L;ENSP00000318820:F709L;ENSP00000263886:F709L;ENSP00000332044:F536L;ENSP00000329869:F709L;ENSP00000371636:F652L;ENSP00000371633:F536L;ENSP00000405788:F638L;ENSP00000419461:F183L|.	ENSP00000329869:F709L|.	F|S	+|+	3|2	2|0	TPO|TPO	1478888|1478888	0.896000|0.896000	0.30565|0.30565	0.740000|0.740000	0.30986|0.30986	0.018000|0.018000	0.09664|0.09664	1.415000|1.415000	0.34748|0.34748	0.004000|0.004000	0.14682|0.14682	0.561000|0.561000	0.74099|0.74099	TTC|TCC	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000115705		0.557	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	-	0.00	40	0	C	NM_000547		1499881	+1	tier1	-	no_errors	ENST00000329066	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.700	G
TPSB2	64499	genome.wustl.edu	37	16	1279206	1279206	+	RNA	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:1279206C>T	ENST00000339687.6	-	0	507				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				TTGTCCACATCGCCCCAGCCA	0.687																																																	0													5.0	6.0	6.0					16																	1279206		442	1442	1884			0			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279206C>T			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D161N	ENST00000339687.6	37	c.481		16	.	.	.	.	.	.	.	.	.	.	C	2.321	-0.355646	0.05138	.	.	ENSG00000197253	ENST00000430512	D	0.87571	-2.27	3.58	0.181	0.15073	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.403267	0.20801	N	0.085431	T	0.64853	0.2636	.	.	.	0.09310	N	1	B	0.28208	0.203	B	0.24848	0.056	T	0.53272	-0.8462	9	0.08179	T	0.78	.	0.8142	0.01099	0.1846:0.3969:0.1811:0.2374	.	162	P20231	TRYB2_HUMAN	N	161	ENSP00000412409:D161N	ENSP00000412409:D161N	D	-	1	0	TPSB2	1219207	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.423000	0.01030	-0.170000	0.10816	0.455000	0.32223	GAT	TPSB2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000197253		0.687	TPSB2-002	KNOWN	basic	processed_transcript	TPSB2	HGNC	polymorphic_pseudogene	OTTHUMT00000342364.1	-	0.00	20	0	C	NM_024164		1279206	-1	tier1	-	no_errors	ENST00000430512	ensembl	human	known	74_37	missense	89.47	2	17	SNP	0.000	T
TREML3P	340206	genome.wustl.edu	37	6	41176727	41176727	+	RNA	SNP	C	C	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:41176727C>A	ENST00000564680.1	-	0	701									triggering receptor expressed on myeloid cells-like 3, pseudogene																		AGGCTTAGTGCTGGCCTTTCC	0.567																																																	0																																												0			AF534825		6p21.1	2012-04-20	2012-04-20	2012-04-20	ENSG00000184106	ENSG00000184106			30806	pseudogene	pseudogene	"""TREM like transcript 3"""	609716	"""triggering receptor expressed on myeloid cells-like 3"""	TREML3		12645956	Standard	NR_027256		Approved	TLT3	uc003oqb.3		OTTHUMG00000177313		6.37:g.41176727C>A				RNA	SNP	-	NULL	ENST00000564680.1	37	NULL		6																																																																																			TREML3P	-	-	ENSG00000184106		0.567	TREML3P-002	KNOWN	basic	processed_transcript	TREML3P	HGNC	pseudogene	OTTHUMT00000436224.1		0.00	18	0	C			41176727	-1			no_errors	ENST00000564680	ensembl	human	known	74_37	rna	11.11	56	7	SNP	0.000	A
TRIM42	287015	genome.wustl.edu	37	3	140401781	140401781	+	Silent	SNP	A	A	G			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:140401781A>G	ENST00000286349.3	+	2	1010	c.819A>G	c.(817-819)caA>caG	p.Q273Q		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	273						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGGCCATGCAAGACCACGTCT	0.582																																																	0													147.0	127.0	133.0					3																	140401781		2203	4300	6503	SO:0001819	synonymous_variant	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.819A>G	3.37:g.140401781A>G			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q273	ENST00000286349.3	37	c.819	CCDS3113.1	3																																																																																			TRIM42	-	smart_Znf_B-box	ENSG00000155890		0.582	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	-	0.00	38	0	A	NM_152616		140401781	+1	tier1	-	no_errors	ENST00000286349	ensembl	human	known	74_37	silent	23.08	20	6	SNP	1.000	G
TRPM3	80036	genome.wustl.edu	37	9	73457905	73457905	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:73457905C>A	ENST00000377097.3	-	3	483	c.356G>T	c.(355-357)tGc>tTc	p.C119F	TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000358082.3_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000396283.1_Intron|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000396292.4_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1606					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAAGCGACAGCACTCAGGACT	0.423																																																	0													93.0	86.0	88.0					9																	73457905		2203	4300	6503	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377097.3:c.356G>T	9.37:g.73457905C>A	ENSP00000366301:p.Cys119Phe		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	NULL	p.C119F	ENST00000377097.3	37	c.356		9	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265831	0.23136	.	.	ENSG00000083067	ENST00000377097	.	.	.	5.11	-0.151	0.13411	.	.	.	.	.	T	0.34629	0.0904	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31420	-0.9944	4	.	.	.	.	9.5729	0.39438	0.0:0.4475:0.0:0.5525	.	.	.	.	S	162	.	.	A	-	1	0	TRPM3	72647725	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	0.313000	0.19415	-0.243000	0.09653	0.561000	0.74099	GCT	TRPM3	-	NULL	ENSG00000083067		0.423	TRPM3-006	PUTATIVE	basic	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000052615.2	-	0.00	36	0	C	NM_206945		73457905	-1	tier1	-	no_errors	ENST00000377097	ensembl	human	putative	74_37	missense	23.68	29	9	SNP	0.000	A
TRRAP	8295	genome.wustl.edu	37	7	98579422	98579422	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:98579422T>C	ENST00000359863.4	+	58	8853	c.8644T>C	c.(8644-8646)Tgg>Cgg	p.W2882R	TRRAP_ENST00000355540.3_Missense_Mutation_p.W2864R|TRRAP_ENST00000446306.3_Missense_Mutation_p.W2864R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2882	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAGATGGCCTGGAAGGTGAA	0.587																																																	0													47.0	32.0	37.0					7																	98579422		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8644T>C	7.37:g.98579422T>C	ENSP00000352925:p.Trp2882Arg		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.W2882R	ENST00000359863.4	37	c.8644	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771647	0.90108	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02863	4.14;4.13	5.7	5.7	0.88788	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	M	0.63428	1.95	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	P;D;D	0.66351	0.897;0.943;0.916	T	0.00178	-1.1951	10	0.72032	D	0.01	.	15.9765	0.80071	0.0:0.0:0.0:1.0	.	2864;2603;2882	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	R	2882;2864;2863	ENSP00000352925:W2882R;ENSP00000347733:W2864R	ENSP00000347733:W2864R	W	+	1	0	TRRAP	98417358	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	8.040000	0.89188	2.172000	0.68678	0.533000	0.62120	TGG	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000196367		0.587	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0.00	34	0	T	NM_003496		98579422	+1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	14.93	56	10	SNP	1.000	C
TSC1	7248	genome.wustl.edu	37	9	135777079	135777079	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:135777079A>C	ENST00000298552.3	-	19	2620	c.2399T>G	c.(2398-2400)cTg>cGg	p.L800R	TSC1_ENST00000440111.2_Missense_Mutation_p.L800R|TSC1_ENST00000545250.1_Missense_Mutation_p.L749R	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	800					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCAGTCCTCCAGCTTCGTCTG	0.542			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											172.0	146.0	155.0					9																	135777079		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2399T>G	9.37:g.135777079A>C	ENSP00000298552:p.Leu800Arg	1620	B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.L800R	ENST00000298552.3	37	c.2399	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728116	0.89390	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.85339	-1.97;-1.97;-1.83	5.23	5.23	0.72850	.	0.233471	0.35291	N	0.003310	D	0.86318	0.5904	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.59221	0.854;0.854	D	0.87720	0.2572	10	0.62326	D	0.03	-10.3793	14.3022	0.66359	1.0:0.0:0.0:0.0	.	749;800	B7Z897;Q92574	.;TSC1_HUMAN	R	800;800;749	ENSP00000298552:L800R;ENSP00000394524:L800R;ENSP00000444017:L749R	ENSP00000298552:L800R	L	-	2	0	TSC1	134766900	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	8.955000	0.93058	1.972000	0.57404	0.455000	0.32223	CTG	TSC1	-	NULL	ENSG00000165699		0.542	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	-	0.00	38	0	A			135777079	-1	tier1	-	no_errors	ENST00000298552	ensembl	human	known	74_37	missense	55.56	12	15	SNP	1.000	C
TSHR	7253	genome.wustl.edu	37	14	81558920	81558920	+	Silent	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:81558920T>C	ENST00000541158.2	+	7	835	c.513T>C	c.(511-513)gcT>gcC	p.A171A	TSHR_ENST00000554263.1_Silent_p.A171A|TSHR_ENST00000298171.2_Silent_p.A171A|TSHR_ENST00000342443.6_Silent_p.A171A|TSHR_ENST00000554435.1_Silent_p.A171A			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	171					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTGTGAATGCTTTTCAGGGAC	0.383			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													205.0	181.0	189.0					14																	81558920		2203	4300	6503	SO:0001819	synonymous_variant	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.513T>C	14.37:g.81558920T>C			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.A171	ENST00000541158.2	37	c.513	CCDS9872.1	14																																																																																			TSHR	-	NULL	ENSG00000165409		0.383	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	-	0.00	35	0	T	NM_000369		81558920	+1	tier1	-	no_errors	ENST00000298171	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.994	C
TSKS	60385	genome.wustl.edu	37	19	50248526	50248526	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:50248526G>A	ENST00000246801.3	-	7	1202	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	TSKS_ENST00000358830.3_Missense_Mutation_p.R174C	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	374					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.R374G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCCTGTTCGCGCTGTGCCCGC	0.701																																																	1	Substitution - Missense(1)	lung(1)											34.0	33.0	33.0					19																	50248526		2203	4300	6503	SO:0001583	missense	0			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1120C>T	19.37:g.50248526G>A	ENSP00000246801:p.Arg374Cys		Q8WXJ0	Missense_Mutation	SNP	NULL	p.R374C	ENST00000246801.3	37	c.1120	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314954	0.40996	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.35048	1.33;1.33	4.89	2.66	0.31614	.	0.000000	0.47852	D	0.000205	T	0.21718	0.0523	L	0.29908	0.895	0.38673	D	0.95236	B	0.13145	0.007	B	0.10450	0.005	T	0.16482	-1.0401	10	0.72032	D	0.01	-12.5152	2.8572	0.05575	0.1004:0.1659:0.5393:0.1944	.	374	Q9UJT2	TSKS_HUMAN	C	374;174	ENSP00000246801:R374C;ENSP00000351691:R174C	ENSP00000246801:R374C	R	-	1	0	TSKS	54940338	0.804000	0.28969	0.991000	0.47740	0.885000	0.51271	1.294000	0.33365	1.286000	0.44565	0.561000	0.74099	CGC	TSKS	-	NULL	ENSG00000126467		0.701	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	-	0.00	74	0	G	NM_021733		50248526	-1	tier1	-	no_errors	ENST00000246801	ensembl	human	known	74_37	missense	27.14	51	19	SNP	0.913	A
TTN	7273	genome.wustl.edu	37	2	179479651	179479651	+	Missense_Mutation	SNP	C	C	T	rs368806005		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:179479651C>T	ENST00000591111.1	-	210	43984	c.43760G>A	c.(43759-43761)cGc>cAc	p.R14587H	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R16228H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7163H|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7288H|TTN_ENST00000342992.6_Missense_Mutation_p.R13660H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7355H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14587	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R7355H(1)|p.R7288H(1)|p.R13660H(1)|p.R7163H(1)		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)			GGCCTTCACGCGGTAGGCATA	0.443																																																	4	Substitution - Missense(4)	large_intestine(4)						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3878		0,0,1939	110.0	100.0	103.0		21488,40979,21863,22064	5.6	1.0	2		103	2,8304		0,2,4151	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,2,6090	TT,TC,CC		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging,probably-damaging	7163/26927,13660/33424,7288/27052,7355/27119	179479651	2,12182	1939	4153	6092	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.43760G>A	2.37:g.179479651C>T	ENSP00000465570:p.Arg14587His		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_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_dom,pfscan_Ig-like_dom	p.R13660H	ENST00000591111.1	37	c.40979		2	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216852	0.58452	0.0	2.41E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85256	0.5655	H	0.96576	3.845	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.89496	0.3760	9	0.87932	D	0	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	7163;7288;7355;14587	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	13660;7163;7355;7288;7163	ENSP00000343764:R13660H;ENSP00000434586:R7163H;ENSP00000340554:R7355H;ENSP00000352154:R7288H	ENSP00000340554:R7355H	R	-	2	0	TTN	179187896	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.668000	0.83897	2.805000	0.96524	0.655000	0.94253	CGC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	29	0	C	NM_133378		179479651	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	T
UHRF1	29128	genome.wustl.edu	37	19	4962030	4962031	+	RNA	DEL	GG	GG	-	rs373827728		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:4962030_4962031delGG	ENST00000592666.1	+	0	4173_4174							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TATTTTTAAAGGGTTTTTTTCA	0.312																																																	0																																												0			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4962030_4962031delGG			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	DEL	-	NULL	ENST00000592666.1	37	NULL		19																																																																																			UHRF1	-	-	ENSG00000034063		0.312	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1		0.00	15	0	GG	NM_001048201		4962031	+1			no_errors	ENST00000262952	ensembl	human	known	74_37	rna	37.50	5	3	DEL	0.000:0.000	0
USP32	84669	genome.wustl.edu	37	17	58372092	58372092	+	Silent	SNP	G	G	A	rs375435948		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:58372092G>A	ENST00000300896.4	-	4	557	c.363C>T	c.(361-363)caC>caT	p.H121H	USP32_ENST00000393003.3_Silent_p.H121H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	121	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CATCCACCACGTGGAGCATTC	0.328																																																	0								A		0,4406		0,0,2203	88.0	81.0	84.0		363	3.4	1.0	17		84	1,8597	818.5+/-406.9	0,1,4298	no	coding-synonymous	USP32	NM_032582.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		121/1605	58372092	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.363C>T	17.37:g.58372092G>A			Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin	p.H121	ENST00000300896.4	37	c.363	CCDS32697.1	17																																																																																			USP32	-	NULL	ENSG00000170832		0.328	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	-	0.00	48	0	G	NM_032582		58372092	-1	tier1	-	no_errors	ENST00000300896	ensembl	human	known	74_37	silent	30.00	28	12	SNP	0.997	A
USP8	9101	genome.wustl.edu	37	15	50784955	50784955	+	Missense_Mutation	SNP	C	C	A	rs74840283		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:50784955C>A	ENST00000396444.3	+	15	2630	c.2292C>A	c.(2290-2292)aaC>aaA	p.N764K	USP8_ENST00000433963.1_Missense_Mutation_p.N764K|USP8_ENST00000307179.4_Missense_Mutation_p.N764K|USP8_ENST00000425032.3_Missense_Mutation_p.N658K|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	764					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGATTCGGAACCTCAATCCTG	0.408																																																	0													135.0	121.0	126.0					15																	50784955		2196	4294	6490	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2292C>A	15.37:g.50784955C>A	ENSP00000379721:p.Asn764Lys		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.N764K	ENST00000396444.3	37	c.2292	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650128	0.67472	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.18174	2.23;2.23;2.23;2.27	5.22	2.26	0.28386	.	0.395808	0.31859	N	0.006953	T	0.09069	0.0224	N	0.24115	0.695	0.48696	D	0.999694	B;B	0.26672	0.083;0.156	B;B	0.21546	0.035;0.03	T	0.19224	-1.0312	10	0.10902	T	0.67	-18.6446	9.071	0.36493	0.0:0.5813:0.0:0.4187	.	658;764	B4DKA8;P40818	.;UBP8_HUMAN	K	764;764;764;658	ENSP00000379721:N764K;ENSP00000405537:N764K;ENSP00000302239:N764K;ENSP00000412682:N658K	ENSP00000302239:N764K	N	+	3	2	USP8	48572247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.755000	0.26405	0.695000	0.31675	0.650000	0.86243	AAC	USP8	-	NULL	ENSG00000138592		0.408	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1		0.00	26	0	C	NM_005154		50784955	+1			no_errors	ENST00000307179	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	A
VEZT	55591	genome.wustl.edu	37	12	95611564	95611564	+	5'UTR	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:95611564G>A	ENST00000436874.1	+	0	43				FGD6_ENST00000549499.1_5'Flank|VEZT_ENST00000261219.6_5'Flank|FGD6_ENST00000343958.4_5'Flank|FGD6_ENST00000546711.1_5'Flank	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein						chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTGGAGCTCCGTGCCGCCTGT	0.587																																																	0													114.0	108.0	110.0					12																	95611564		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.-63G>A	12.37:g.95611564G>A			Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	RNA	SNP	-	NULL	ENST00000436874.1	37	NULL	CCDS44954.1	12																																																																																			VEZT	-	-	ENSG00000028203		0.587	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	-	0.00	34	0	G	NM_017599		95611564	+1	tier1	-	no_errors	ENST00000549589	ensembl	human	known	74_37	rna	23.53	13	4	SNP	0.117	A
VPS18	57617	genome.wustl.edu	37	15	41195002	41195002	+	Silent	SNP	C	C	T	rs550091305	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:41195002C>T	ENST00000220509.5	+	5	2724	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	795					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTCCTGATTTCGTCACCATCG	0.552													C|||	5	0.000998403	0.0	0.0	5008	,	,		21066	0.0		0.0	False		,,,				2504	0.0051																0													123.0	125.0	124.0					15																	41195002		2203	4300	6503	SO:0001819	synonymous_variant	0			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2385C>T	15.37:g.41195002C>T			Q8TCG0|Q96DI3|Q9H268	Silent	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.F795	ENST00000220509.5	37	c.2385	CCDS10069.1	15																																																																																			VPS18	-	NULL	ENSG00000104142		0.552	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	-	0.00	28	0	C			41195002	+1	tier1	-	no_errors	ENST00000220509	ensembl	human	known	74_37	silent	26.92	19	7	SNP	0.983	T
VWA9	81556	genome.wustl.edu	37	15	65884002	65884002	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:65884002G>T	ENST00000395644.4	-	9	1389	c.1054C>A	c.(1054-1056)Ctc>Atc	p.L352I	VWA9_ENST00000569491.1_Missense_Mutation_p.L302I|VWA9_ENST00000567744.1_Missense_Mutation_p.L388I|VWA9_ENST00000431261.2_Missense_Mutation_p.L273I|VWA9_ENST00000420799.2_Missense_Mutation_p.L295I|VWA9_ENST00000313182.2_Missense_Mutation_p.L352I|VWA9_ENST00000442903.3_Missense_Mutation_p.L316I			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	352																	GGCTCAAAGAGAGACATCATG	0.458																																																	0													139.0	119.0	126.0					15																	65884002		2201	4299	6500	SO:0001583	missense	0			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1054C>A	15.37:g.65884002G>T	ENSP00000379006:p.Leu352Ile		B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	NULL	p.L388I	ENST00000395644.4	37	c.1162		15	.	.	.	.	.	.	.	.	.	.	G	9.558	1.117658	0.20877	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	6.03	6.03	0.97812	.	0.056779	0.64402	D	0.000001	T	0.35770	0.0943	N	0.04636	-0.2	0.58432	D	0.999996	B;B;B;B	0.11235	0.004;0.004;0.002;0.002	B;B;B;B	0.14578	0.011;0.009;0.002;0.001	T	0.39981	-0.9587	9	0.02654	T	1	-22.2025	20.5568	0.99304	0.0:0.0:1.0:0.0	.	302;316;388;352	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	I	352;352;273;295;316	.	ENSP00000326379:L352I	L	-	1	0	C15orf44	63671055	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.615000	0.61190	2.861000	0.98227	0.655000	0.94253	CTC	VWA9	-	NULL	ENSG00000138614		0.458	VWA9-201	KNOWN	basic|appris_principal	protein_coding	VWA9	HGNC	protein_coding	OTTHUMT00000420604.3	-	0.00	61	0	G	NM_030800		65884002	-1	tier1	-	no_errors	ENST00000567744	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
VWF	7450	genome.wustl.edu	37	12	6219637	6219637	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:6219637G>T	ENST00000261405.5	-	5	689	c.435C>A	c.(433-435)aaC>aaA	p.N145K	VWF_ENST00000572068.1_Missense_Mutation_p.N182K	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	145	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGACTTGAAAGTTGCCGCTGC	0.502																																																	0													130.0	131.0	131.0					12																	6219637		2203	4300	6503	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.435C>A	12.37:g.6219637G>T	ENSP00000261405:p.Asn145Lys		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.N145K	ENST00000261405.5	37	c.435	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	15.71	2.914931	0.52546	.	.	ENSG00000110799	ENST00000261405	T	0.59364	0.27	5.81	2.93	0.34026	von Willebrand factor, type D domain (3);	0.374066	0.20205	N	0.097002	T	0.67942	0.2947	M	0.65498	2.005	0.49130	D	0.999752	D;D;D	0.69078	0.988;0.997;0.997	P;D;D	0.77004	0.85;0.966;0.989	T	0.62709	-0.6797	10	0.38643	T	0.18	.	5.8903	0.18909	0.2839:0.1303:0.5859:0.0	.	145;182;145	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	K	145	ENSP00000261405:N145K	ENSP00000261405:N145K	N	-	3	2	VWF	6089898	1.000000	0.71417	0.982000	0.44146	0.863000	0.49368	1.617000	0.36943	0.343000	0.23821	0.655000	0.94253	AAC	VWF	-	pirsf_VWF,pfam_VWF_type-D,smart_VWF_type-D	ENSG00000110799		0.502	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1		0.00	20	0	G	NM_000552		6219637	-1			no_errors	ENST00000261405	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.997	T
WDR7	23335	genome.wustl.edu	37	18	54362387	54362387	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr18:54362387G>T	ENST00000254442.3	+	11	1526	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S	WDR7_ENST00000357574.3_Missense_Mutation_p.A439S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	439					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CACACAGACGGCCATAGTACA	0.453																																																	0													111.0	103.0	106.0					18																	54362387		2203	4300	6503	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1315G>T	18.37:g.54362387G>T	ENSP00000254442:p.Ala439Ser		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A439S	ENST00000254442.3	37	c.1315	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022612	0.93462	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	D;D	0.93076	-3.16;-3.16	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	M	0.71036	2.16	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.75020	0.94;0.985	D	0.93517	0.6858	10	0.13470	T	0.59	.	19.0834	0.93192	0.0:0.0:1.0:0.0	.	439;439	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	S	439	ENSP00000254442:A439S;ENSP00000350187:A439S	ENSP00000254442:A439S	A	+	1	0	WDR7	52513385	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	9.473000	0.97714	2.680000	0.91292	0.585000	0.79938	GCC	WDR7	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000091157		0.453	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1		0.00	33	0	G			54362387	+1			no_errors	ENST00000254442	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
WDR78	79819	genome.wustl.edu	37	1	67288089	67288089	+	Silent	SNP	A	A	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:67288089A>T	ENST00000371026.3	-	16	2506	c.2451T>A	c.(2449-2451)tcT>tcA	p.S817S	WDR78_ENST00000431318.1_Silent_p.S530S	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	817					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GTTCATACACAGAAACCTGTC	0.383																																																	0													126.0	123.0	124.0					1																	67288089		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2451T>A	1.37:g.67288089A>T			A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S817	ENST00000371026.3	37	c.2451	CCDS635.1	1																																																																																			WDR78	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000152763		0.383	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR78	HGNC	protein_coding	OTTHUMT00000025404.1	-	0.00	19	0	A	NM_024763		67288089	-1	tier1	-	no_errors	ENST00000371026	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.148	T
WDR81	124997	genome.wustl.edu	37	17	1637131	1637131	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:1637131C>T	ENST00000409644.1	+	7	4800	c.4800C>T	c.(4798-4800)aaC>aaT	p.N1600N	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Silent_p.N397N|WDR81_ENST00000446363.1_Silent_p.N239N|WDR81_ENST00000419248.1_Silent_p.N373N|WDR81_ENST00000545662.1_Silent_p.N231N|WDR81_ENST00000309182.5_Silent_p.N549N	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1600					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCGACGACAACGCCCTGAAGC	0.682																																																	0													46.0	49.0	48.0					17																	1637131		2203	4297	6500	SO:0001819	synonymous_variant	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4800C>T	17.37:g.1637131C>T			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N1600	ENST00000409644.1	37	c.4800	CCDS54062.1	17																																																																																			WDR81	-	NULL	ENSG00000167716		0.682	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	-	0.00	79	0	C	NM_152348		1637131	+1	tier1	-	no_errors	ENST00000409644	ensembl	human	known	74_37	silent	51.32	37	39	SNP	0.462	T
CFAP43	80217	genome.wustl.edu	37	10	105974083	105974083	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:105974083G>T	ENST00000278064.2	-	4	633	c.308C>A	c.(307-309)tCa>tAa	p.S103*	WDR96_ENST00000428666.1_Nonsense_Mutation_p.S173*|WDR96_ENST00000369720.1_Nonsense_Mutation_p.S103*|WDR96_ENST00000357060.3_Nonsense_Mutation_p.S173*|WDR96_ENST00000369719.1_Nonsense_Mutation_p.S103*														p.S173*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACTTGGACTTGATAAGCACAG	0.443																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											197.0	176.0	183.0					10																	105974083		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000278064.2:c.308C>A	10.37:g.105974083G>T	ENSP00000278064:p.Ser103*			Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.S173*	ENST00000278064.2	37	c.518		10	.	.	.	.	.	.	.	.	.	.	G	38	7.143096	0.98092	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	.	.	.	5.81	5.81	0.92471	.	0.000000	0.36134	N	0.002778	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.367	0.66812	0.0:0.0:0.8513:0.1487	.	.	.	.	X	173;173;103;103;103	.	ENSP00000278064:S103X	S	-	2	0	WDR96	105964073	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	3.393000	0.52544	2.761000	0.94854	0.655000	0.94253	TCA	WDR96	-	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	ENSG00000197748		0.443	WDR96-003	KNOWN	basic	protein_coding	WDR96	HGNC	protein_coding	OTTHUMT00000050200.1		0.00	21	0	G			105974083	-1			no_errors	ENST00000357060	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	T
WIPF2	147179	genome.wustl.edu	37	17	38430132	38430132	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:38430132C>T	ENST00000323571.4	+	6	1301	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L	WIPF2_ENST00000583130.1_Missense_Mutation_p.P354L|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P354L|WIPF2_ENST00000536600.1_Missense_Mutation_p.P96L|WIPF2_ENST00000394103.3_Missense_Mutation_p.P96L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	354					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCAGAACCCCCGAGCCGAGGA	0.632										HNSCC(43;0.11)																																							0													70.0	64.0	66.0					17																	38430132		2203	4300	6503	SO:0001583	missense	0			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.1061C>T	17.37:g.38430132C>T	ENSP00000320924:p.Pro354Leu		A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	smart_WH2_dom,pfscan_WH2_dom	p.P354L	ENST00000323571.4	37	c.1061	CCDS11364.1	17	.	.	.	.	.	.	.	.	.	.	C	9.628	1.135759	0.21123	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.44482	1.47;0.92;0.92	5.31	-3.64	0.04515	.	0.697468	0.13870	N	0.357078	T	0.27866	0.0686	L	0.48642	1.525	0.37626	D	0.921488	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08391	-1.0724	10	0.25106	T	0.35	3.198	6.6198	0.22796	0.3552:0.465:0.0:0.1798	.	96;354	A8MWR2;Q8TF74	.;WIPF2_HUMAN	L	354;96;96	ENSP00000320924:P354L;ENSP00000377663:P96L;ENSP00000439175:P96L	ENSP00000320924:P354L	P	+	2	0	WIPF2	35683658	0.000000	0.05858	0.565000	0.28409	0.937000	0.57800	-0.412000	0.07132	-0.661000	0.05345	-1.131000	0.01979	CCG	WIPF2	-	NULL	ENSG00000171475		0.632	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WIPF2	HGNC	protein_coding	OTTHUMT00000257157.2		0.00	80	0	C	NM_133264		38430132	+1			no_errors	ENST00000323571	ensembl	human	known	74_37	missense	5.00	74	4	SNP	0.492	T
YBX3	8531	genome.wustl.edu	37	12	10852015	10852015	+	3'UTR	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:10852015G>A	ENST00000228251.4	-	0	1592				YBX3_ENST00000546164.1_5'Flank|YBX3_ENST00000279550.7_3'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3						3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										AGCGGTTGCTGAAACTGGAGA	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.*273C>T	12.37:g.10852015G>A			B2RBW6|Q14121|Q969N6|Q96B76	RNA	SNP	-	NULL	ENST00000228251.4	37	NULL	CCDS8630.1	12																																																																																			YBX3	-	-	ENSG00000060138		0.368	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YBX3	HGNC	protein_coding	OTTHUMT00000399628.1	-	0.00	34	0	G	NM_003651		10852015	-1	tier1	-	no_errors	ENST00000540975	ensembl	human	known	74_37	rna	7.27	51	4	SNP	1.000	A
ZBTB16	7704	genome.wustl.edu	37	11	114118002	114118002	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:114118002G>A	ENST00000335953.4	+	6	2087	c.1707G>A	c.(1705-1707)acG>acA	p.T569T	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Silent_p.T569T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	569					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCATCCACACGGGTGAGAAAC	0.577																																																	0													102.0	81.0	88.0					11																	114118002		2201	4296	6497	SO:0001819	synonymous_variant	0			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1707G>A	11.37:g.114118002G>A			Q8TAL4	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T569	ENST00000335953.4	37	c.1707	CCDS8367.1	11																																																																																			ZBTB16	-	pfscan_Znf_C2H2	ENSG00000109906		0.577	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	-	0.00	29	0	G	NM_006006		114118002	+1	tier1	-	no_errors	ENST00000335953	ensembl	human	known	74_37	silent	23.33	23	7	SNP	0.139	A
ZBTB16	7704	genome.wustl.edu	37	11	114118040	114118040	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:114118040A>C	ENST00000335953.4	+	6	2125	c.1745A>C	c.(1744-1746)aAg>aCg	p.K582T	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.K582T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	582					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGTGGCAAGAAGTTCAGCCTC	0.597																																																	0													98.0	77.0	84.0					11																	114118040		2201	4296	6497	SO:0001583	missense	0			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1745A>C	11.37:g.114118040A>C	ENSP00000338157:p.Lys582Thr		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K582T	ENST00000335953.4	37	c.1745	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	a	15.76	2.929207	0.52759	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.16597	2.33;2.33	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.065068	0.64402	D	0.000012	T	0.16514	0.0397	N	0.01535	-0.81	0.54753	D	0.999983	D	0.76494	0.999	D	0.87578	0.998	T	0.51949	-0.8640	10	0.20046	T	0.44	.	15.7234	0.77732	1.0:0.0:0.0:0.0	.	582	Q05516	ZBT16_HUMAN	T	582;582;459	ENSP00000338157:K582T;ENSP00000376721:K582T	ENSP00000309507:K459T	K	+	2	0	ZBTB16	113623250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.239000	0.95389	2.113000	0.64589	0.529000	0.55759	AAG	ZBTB16	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000109906		0.597	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	-	0.00	31	0	A	NM_006006		114118040	+1	tier1	-	no_errors	ENST00000335953	ensembl	human	known	74_37	missense	39.29	17	11	SNP	1.000	C
ZBTB47	92999	genome.wustl.edu	37	3	42701321	42701321	+	Splice_Site	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:42701321G>A	ENST00000232974.6	+	2	1754		c.e2+1		ZBTB47_ENST00000505904.1_Splice_Site|ZBTB47_ENST00000457842.3_Splice_Site			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CAACATCCAGGTGGGCCTCAC	0.637																																																	0													19.0	21.0	20.0					3																	42701321		2129	4228	6357	SO:0001630	splice_region_variant	0			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1473+1G>A	3.37:g.42701321G>A			H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Splice_Site	SNP	-	e1+1	ENST00000232974.6	37	c.1473+1	CCDS46805.2	3	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561684	0.65538	.	.	ENSG00000114853	ENST00000232974;ENST00000542870;ENST00000457842;ENST00000505904	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9147	0.86148	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZBTB47	42676325	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.652000	0.98499	2.197000	0.70478	0.557000	0.71058	.	ZBTB47	-	-	ENSG00000114853		0.637	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB47	HGNC	protein_coding	OTTHUMT00000343485.3	-	0.00	80	0	G	NM_145166	Intron	42701321	+1	tier1	-	no_errors	ENST00000232974	ensembl	human	known	74_37	splice_site	15.22	39	7	SNP	1.000	A
ZHX1	11244	genome.wustl.edu	37	8	124266802	124266802	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:124266802G>T	ENST00000522655.1	-	3	1925	c.1385C>A	c.(1384-1386)cCt>cAt	p.P462H	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.P462H|ZHX1_ENST00000297857.2_Missense_Mutation_p.P462H|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	462	Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATGAATCAGGGTTTACCAA	0.413																																																	0													140.0	148.0	145.0					8																	124266802		2203	4300	6503	SO:0001583	missense	0			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1385C>A	8.37:g.124266802G>T	ENSP00000428821:p.Pro462His		Q8IWD8	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P462H	ENST00000522655.1	37	c.1385	CCDS6342.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.91|10.91	1.483196|1.483196	0.26598|0.26598	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000520474|ENST00000297857;ENST00000395571;ENST00000522655	.|T;T;T	.|0.23552	.|1.9;1.9;1.9	5.08|5.08	5.08|5.08	0.68730|0.68730	.|Homeodomain-like (1);	.|0.438611	.|0.25296	.|N	.|0.031697	T|T	0.21427|0.21427	0.0516|0.0516	.|.	.|.	.|.	0.34346|0.34346	D|D	0.689272|0.689272	.|P	.|0.41643	.|0.758	.|B	.|0.40101	.|0.319	T|T	0.25012|0.25012	-1.0144|-1.0144	4|9	.|0.44086	.|T	.|0.13	-8.9552|-8.9552	9.3601|9.3601	0.38190|0.38190	0.1574:0.0:0.8426:0.0|0.1574:0.0:0.8426:0.0	.|.	.|462	.|Q9UKY1	.|ZHX1_HUMAN	M|H	147|462	.|ENSP00000297857:P462H;ENSP00000378938:P462H;ENSP00000428821:P462H	.|ENSP00000297857:P462H	L|P	-|-	1|2	2|0	ZHX1|ZHX1	124335983|124335983	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.917000|0.917000	0.54804|0.54804	3.944000|3.944000	0.56629|0.56629	2.635000|2.635000	0.89317|0.89317	0.455000|0.455000	0.32223|0.32223	CTG|CCT	ZHX1	-	superfamily_Homeodomain-like	ENSG00000165156		0.413	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1		0.00	17	0	G			124266802	-1			no_errors	ENST00000297857	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.969	T
ZIC3	7547	genome.wustl.edu	37	X	136649852	136649852	+	Silent	SNP	C	C	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:136649852C>A	ENST00000287538.5	+	1	1552	c.1002C>A	c.(1000-1002)ggC>ggA	p.G334G	ZIC3_ENST00000370606.3_Silent_p.G334G	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	334	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCTTCCCGGGCTGCGGGAAGA	0.587																																																	0													65.0	71.0	69.0					X																	136649852		2203	4299	6502	SO:0001819	synonymous_variant	0			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1002C>A	X.37:g.136649852C>A			B2CNW4|Q14DE5|Q5JY75	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G334	ENST00000287538.5	37	c.1002	CCDS14663.1	X																																																																																			ZIC3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000156925		0.587	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	-	0.00	17	0	C			136649852	+1	tier1	-	no_errors	ENST00000287538	ensembl	human	known	74_37	silent	75.00	3	9	SNP	1.000	A
ZNF131	7690	genome.wustl.edu	37	5	43175102	43175102	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:43175102G>A	ENST00000399534.1	+	7	1783	c.1739G>A	c.(1738-1740)aGc>aAc	p.S580N	ZNF131_ENST00000306938.4_Missense_Mutation_p.S546N|ZNF131_ENST00000509634.1_Missense_Mutation_p.S546N|ZNF131_ENST00000505606.2_Missense_Mutation_p.S546N|ZNF131_ENST00000509156.1_Missense_Mutation_p.S580N|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	580					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGAGAGTCTAGCCAAGCAGAT	0.483																																																	0													73.0	71.0	72.0					5																	43175102		1977	4162	6139	SO:0001583	missense	0			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1739G>A	5.37:g.43175102G>A	ENSP00000382450:p.Ser580Asn		B4DRL3|Q6PIF0	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.S580N	ENST00000399534.1	37	c.1739		5	.	.	.	.	.	.	.	.	.	.	G	5.052	0.195183	0.09599	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.48	-3.86	0.04230	.	1.180830	0.05845	N	0.619992	T	0.49575	0.1565	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30534	-0.9975	10	0.19147	T	0.46	-0.0785	7.7793	0.29056	0.2724:0.4241:0.3034:0.0	.	580;546	P52739;P52739-2	ZN131_HUMAN;.	N	580;546;580;546;546	ENSP00000426504:S580N;ENSP00000305804:S546N;ENSP00000382450:S580N;ENSP00000423945:S546N;ENSP00000421246:S546N	ENSP00000305804:S546N	S	+	2	0	ZNF131	43210859	0.001000	0.12720	0.042000	0.18584	0.853000	0.48598	-0.371000	0.07513	-0.391000	0.07763	0.467000	0.42956	AGC	ZNF131	-	NULL	ENSG00000172262		0.483	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	HGNC	protein_coding	OTTHUMT00000367982.1	-	0.00	18	0	G	NM_003432		43175102	+1	tier1	-	no_errors	ENST00000399534	ensembl	human	known	74_37	missense	35.71	9	5	SNP	0.006	A
ZNF17	7565	genome.wustl.edu	37	19	57931205	57931205	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:57931205G>A	ENST00000601808.1	+	3	558	c.345G>A	c.(343-345)ctG>ctA	p.L115L	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000307658.7_Silent_p.L117L|AC003002.6_ENST00000596400.1_Silent_p.L127L	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGCTTTACCTGCACCAAAAGG	0.512																																					Melanoma(149;1637 1853 29914 42869 44988)												0													125.0	125.0	125.0					19																	57931205		2203	4300	6503	SO:0001819	synonymous_variant	0			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.345G>A	19.37:g.57931205G>A			B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	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.L115	ENST00000601808.1	37	c.345	CCDS42636.1	19																																																																																			ZNF17	-	NULL	ENSG00000186272		0.512	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	-	0.00	61	0	G	NM_006959		57931205	+1	tier1	-	no_errors	ENST00000601808	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.862	A
ZNF429	353088	genome.wustl.edu	37	19	21719848	21719848	+	Silent	SNP	T	T	C			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:21719848T>C	ENST00000358491.4	+	4	1201	c.993T>C	c.(991-993)caT>caC	p.H331H	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTACTAGCCATAAGAGAATAC	0.368																																																	0													33.0	37.0	36.0					19																	21719848		2143	4274	6417	SO:0001819	synonymous_variant	0			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.993T>C	19.37:g.21719848T>C			A6NLV7|Q9BZE6	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.H331	ENST00000358491.4	37	c.993	CCDS42537.1	19																																																																																			ZNF429	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197013		0.368	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	-	0.00	28	0	T	NM_001001415		21719848	+1	tier1	-	no_errors	ENST00000358491	ensembl	human	novel	74_37	silent	28.36	48	19	SNP	0.995	C
ZNF256	10172	genome.wustl.edu	37	19	58452838	58452838	+	Silent	SNP	C	C	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:58452838C>T	ENST00000282308.3	-	3	1534	c.1338G>A	c.(1336-1338)agG>agA	p.R446R	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	446					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGTCAAATTTCCTGCTAAATA	0.378																																					NSCLC(55;1313 1552 8040 11996)												0													73.0	69.0	70.0					19																	58452838		2203	4300	6503	SO:0001819	synonymous_variant	0			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1338G>A	19.37:g.58452838C>T			B2RA92|Q53Y85|Q9BV71	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.R446	ENST00000282308.3	37	c.1338	CCDS12966.1	19																																																																																			ZNF256	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152454		0.378	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF256	HGNC	protein_coding	OTTHUMT00000466702.1	-	0.00	63	0	C			58452838	-1	tier1	-	no_errors	ENST00000282308	ensembl	human	known	74_37	silent	8.47	54	5	SNP	0.000	T
ZNF518A	9849	genome.wustl.edu	37	10	97921125	97921125	+	RNA	DEL	T	T	-			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:97921125delT	ENST00000534948.1	+	0	5901							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)		GGCAAGTAAATTTTTTTTCCA	0.343																																																	0																																												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.97921125delT			A0PJI5|O15044|Q32MP4	RNA	DEL	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-	ENSG00000177853		0.343	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript			0.00	27	0	T	NM_014803		97921125	+1	tier1		no_errors	ENST00000534948	ensembl	human	known	74_37	rna	9.52	19	2	DEL	0.000	-
ZNF672	79894	genome.wustl.edu	37	1	249141662	249141662	+	Silent	SNP	G	G	A			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:249141662G>A	ENST00000306562.3	+	4	935	c.189G>A	c.(187-189)acG>acA	p.T63T		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	63					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACAGGCGCACGCATGCTGGCC	0.652																																																	0													28.0	21.0	24.0					1																	249141662		2200	4297	6497	SO:0001819	synonymous_variant	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.189G>A	1.37:g.249141662G>A			Q96H65|Q96IM3|Q9H6G5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T63	ENST00000306562.3	37	c.189	CCDS1638.1	1																																																																																			ZNF672	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.652	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2		0.00	27	0	G	NM_024836		249141662	+1			no_errors	ENST00000306562	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.000	A
ZNF835	90485	genome.wustl.edu	37	19	57175717	57175717	+	Missense_Mutation	SNP	C	C	T	rs575232626		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:57175717C>T	ENST00000537055.2	-	2	1081	c.850G>A	c.(850-852)Gcc>Acc	p.A284T		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCCTTGGCGCACTGGCCG	0.697													.|||	1	0.000199681	0.0	0.0	5008	,	,		15752	0.0		0.0	False		,,,				2504	0.001																0													18.0	19.0	19.0					19																	57175717		2201	4291	6492	SO:0001583	missense	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.850G>A	19.37:g.57175717C>T	ENSP00000444747:p.Ala284Thr		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A284T	ENST00000537055.2	37	c.850	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047814	0.93740	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07567	3.18	2.12	-0.196	0.13232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	N	0.04880	-0.145	0.22500	N	0.99904	D	0.61080	0.989	P	0.55303	0.773	T	0.33624	-0.9861	9	0.87932	D	0	.	5.0827	0.14664	0.0:0.6462:0.2144:0.1394	.	306	Q9Y2P0	ZN835_HUMAN	T	306;284	ENSP00000444747:A284T	ENSP00000341756:A306T	A	-	1	0	ZNF835	61867529	0.005000	0.15991	0.003000	0.11579	0.970000	0.65996	1.222000	0.32515	0.038000	0.15604	-0.221000	0.12465	GCC	ZNF835	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127903		0.697	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1	-	0.00	68	0	C	NM_001005850		57175717	-1	tier1	-	no_errors	ENST00000537055	ensembl	human	known	74_37	missense	15.05	78	14	SNP	0.997	T
ZNFX1	57169	genome.wustl.edu	37	20	47882796	47882796	+	Silent	SNP	G	G	T			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:47882796G>T	ENST00000396105.1	-	4	2124	c.1878C>A	c.(1876-1878)acC>acA	p.T626T	ZNFX1_ENST00000371754.4_Silent_p.T626T|ZNFX1_ENST00000371752.1_Silent_p.T626T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	626							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GACCCACATAGGTTTTGCCTA	0.318																																																	0													69.0	68.0	68.0					20																	47882796		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1878C>A	20.37:g.47882796G>T			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1	p.T626	ENST00000396105.1	37	c.1878	CCDS13417.1	20																																																																																			ZNFX1	-	superfamily_P-loop_NTPase	ENSG00000124201		0.318	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2		0.00	32	0	G	NM_021035		47882796	-1			no_errors	ENST00000371752	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.986	T
