#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AMPD1	270	genome.wustl.edu	37	1	115220952	115220952	+	Splice_Site	SNP	A	A	G			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr1:115220952A>G	ENST00000520113.2	-	8	1207		c.e8+1		AMPD1_ENST00000353928.6_Splice_Site|AMPD1_ENST00000369538.3_Splice_Site			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1						IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GTTTCAACCTACAGCATGAAC	0.418																																						dbGAP											0													146.0	138.0	141.0					1																	115220952		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1191+1T>C	1.37:g.115220952A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Splice_Site	SNP	-	e8+2	ENST00000520113.2	37	c.1191+2	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226679	0.79576	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.18	0.72947	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMPD1	115022475	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.287000	0.95975	2.054000	0.61138	0.459000	0.35465	.	AMPD1	-	-	ENSG00000116748		0.418	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	317	0	0	A		Intron	115220952	115220952	-1	no_errors	ENST00000520113	ensembl	human	known	69_37n	splice_site	92	35.21	50	SNP	1.000	G
ANKRD12	23253	genome.wustl.edu	37	18	9195691	9195691	+	Missense_Mutation	SNP	A	A	G			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr18:9195691A>G	ENST00000262126.4	+	3	470	c.230A>G	c.(229-231)gAc>gGc	p.D77G	ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D77G|ANKRD12_ENST00000400020.3_Missense_Mutation_p.D77G	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	77						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CGAGATTCAGACACAGGTAGA	0.373																																						dbGAP											0													76.0	74.0	75.0					18																	9195691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.230A>G	18.37:g.9195691A>G	ENSP00000262126:p.Asp77Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D77G	ENST00000262126.4	37	c.230	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583312	0.65992	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T;T	0.49720	3.44;0.77;3.44	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.976;1.0;0.997	P;D;D	0.87578	0.551;0.998;0.989	T	0.69533	-0.5120	10	0.56958	D	0.05	0.2058	15.7377	0.77859	1.0:0.0:0.0:0.0	.	77;77;77	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	G	77	ENSP00000372932:D77G;ENSP00000441510:D77G;ENSP00000262126:D77G	ENSP00000262126:D77G	D	+	2	0	ANKRD12	9185691	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.548000	0.90669	2.131000	0.65755	0.454000	0.30748	GAC	ANKRD12	-	NULL	ENSG00000101745		0.373	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	186	0.00	0	A	NM_015208		9195691	9195691	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	missense	26	35.00	14	SNP	1.000	G
ATP11A	23250	genome.wustl.edu	37	13	113439503	113439503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr13:113439503G>T	ENST00000487903.1	+	2	182	c.94G>T	c.(94-96)Gag>Tag	p.E32*	ATP11A_ENST00000283558.8_Nonsense_Mutation_p.E32*|ATP11A_ENST00000375630.2_Nonsense_Mutation_p.E32*|ATP11A_ENST00000375645.3_Nonsense_Mutation_p.E32*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	32					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGGACACAGGGAGCCACCTCC	0.567											OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													148.0	139.0	142.0					13																	113439503		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.94G>T	13.37:g.113439503G>T	ENSP00000420387:p.Glu32*	Somatic	1450	WXS	Illumina GAIIx	Phase_IV	Q5VXT2	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E32*	ENST00000487903.1	37	c.94	CCDS32011.1	13	.	.	.	.	.	.	.	.	.	.	G	39	7.378292	0.98245	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.	.	.	4.83	4.83	0.62350	.	0.100091	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	12.8994	0.58117	0.0:0.164:0.836:0.0	.	.	.	.	X	32	.	ENSP00000283558:E32X	E	+	1	0	ATP11A	112487504	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	6.296000	0.72751	2.390000	0.81377	0.643000	0.83706	GAG	ATP11A	-	NULL	ENSG00000068650		0.567	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	71	0.00	0	G	NM_015205		113439503	113439503	+1	no_errors	ENST00000375630	ensembl	human	known	69_37n	nonsense	25	44.44	20	SNP	1.000	T
ERICH3	127254	genome.wustl.edu	37	1	75055760	75055761	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr1:75055760_75055761insAA	ENST00000326665.5	-	12	1948_1949	c.1730_1731insTT	c.(1729-1731)atgfs	p.M577fs	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Frame_Shift_Ins_p.M380fs	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		577	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAGCAGTTTTCATATCTACAAA	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000326665.5:c.1730_1731insTT	1.37:g.75055760_75055761insAA	ENSP00000322609:p.Met577fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Ins	INS	NULL	p.M577fs	ENST00000326665.5	37	c.1731_1730	CCDS30755.1	1																																																																																			C1orf173	-	NULL	ENSG00000178965		0.351	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	81	0.00	0	-			75055760	75055761	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	frame_shift_ins	19	13.64	3	INS	0.048:0.017	AA
C9orf171	389799	genome.wustl.edu	37	9	135374976	135374976	+	Silent	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr9:135374976G>A	ENST00000343036.2	+	4	669	c.621G>A	c.(619-621)ggG>ggA	p.G207G	C9orf171_ENST00000393215.3_Silent_p.G171G|C9orf171_ENST00000393216.2_Silent_p.G171G	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	207										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						TGACATTTGGGATCCGGGCAC	0.587																																						dbGAP											0													49.0	51.0	50.0					9																	135374976		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.621G>A	9.37:g.135374976G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q147X1	Silent	SNP	NULL	p.G207	ENST00000343036.2	37	c.621	CCDS6949.1	9																																																																																			C9orf171	-	NULL	ENSG00000188523		0.587	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	HGNC	protein_coding	OTTHUMT00000254589.1	26	0.00	0	G	NM_207417		135374976	135374976	+1	no_errors	ENST00000343036	ensembl	human	known	69_37n	silent	29	39.58	19	SNP	0.983	A
CA4	762	genome.wustl.edu	37	17	58234014	58234014	+	Missense_Mutation	SNP	G	G	A	rs121434552		TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr17:58234014G>A	ENST00000300900.4	+	3	305	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	69			R -> H (in RP17; has no effect on catalytic activity; loss of interaction with SLC4A4). {ECO:0000269|PubMed:17652713}.		bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	AAACTGGGACGCTTCTTCTTC	0.572																																						dbGAP											0			GRCh37	CM072913	CA4	M	rs121434552						107.0	95.0	99.0					17																	58234014		2203	4300	6503	-	-	-	SO:0001583	missense	0			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.206G>A	17.37:g.58234014G>A	ENSP00000300900:p.Arg69His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQA4|Q6FHI7	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.R69H	ENST00000300900.4	37	c.206	CCDS11624.1	17	.	.	.	.	.	.	.	.	.	.	G	6.430	0.447445	0.12223	.	.	ENSG00000167434	ENST00000300900	T	0.72282	-0.64	5.27	-10.5	0.00291	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.982469	0.08348	N	0.959813	T	0.50411	0.1614	L	0.43152	1.355	0.09310	A	3.10971e-09	B	0.09022	0.002	B	0.04013	0.001	T	0.42396	-0.9454	9	0.56958	D	0.05	.	1.6472	0.02764	0.3583:0.2027:0.2768:0.1622	.	69	P22748	CAH4_HUMAN	H	69	ENSP00000300900:R69H	ENSP00000300900:R69H	R	+	2	0	CA4	55588796	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.988000	0.00087	-4.163000	0.00068	-2.926000	0.00089	CGC	CA4	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000167434		0.572	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA4	HGNC	protein_coding	OTTHUMT00000449189.1	84	0.00	0	G	NM_000717		58234014	58234014	+1	no_errors	ENST00000300900	ensembl	human	known	69_37n	missense	100	16.67	20	SNP	0.000	A
CDS2	8760	genome.wustl.edu	37	20	5157348	5157348	+	Missense_Mutation	SNP	G	G	A	rs576280057	byFrequency	TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr20:5157348G>A	ENST00000460006.1	+	4	653	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_5'Flank|CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	116					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						TGGCTACAACGTCTACCACTC	0.463													G|||	2	0.000399361	0.0	0.0	5008	,	,		18280	0.001		0.0	False		,,,				2504	0.001					dbGAP											0													210.0	197.0	201.0					20																	5157348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.346G>A	20.37:g.5157348G>A	ENSP00000419879:p.Val116Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	pfam_PC_trans,pirsf_PC_Trfase_euk	p.V116I	ENST00000460006.1	37	c.346	CCDS13088.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.229426	0.95173	.	.	ENSG00000101290	ENST00000460006;ENST00000450570	T;T	0.43688	0.94;0.94	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.989	D;P;P	0.67900	0.954;0.786;0.786	T	0.52275	-0.8597	10	0.35671	T	0.21	-21.9194	16.7771	0.85553	0.0:0.0:1.0:0.0	.	116;116;116	B3KM95;O95674;B3KNK4	.;CDS2_HUMAN;.	I	116;61	ENSP00000419879:V116I;ENSP00000403205:V61I	ENSP00000403205:V61I	V	+	1	0	CDS2	5105348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.540000	0.98080	2.607000	0.88179	0.561000	0.74099	GTC	CDS2	-	pfam_PC_trans,pirsf_PC_Trfase_euk	ENSG00000101290		0.463	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS2	HGNC	protein_coding	OTTHUMT00000077858.2	252	0.00	0	G			5157348	5157348	+1	no_errors	ENST00000460006	ensembl	human	known	69_37n	missense	190	33.33	95	SNP	1.000	A
CEP290	80184	genome.wustl.edu	37	12	88442981	88442981	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr12:88442981C>T	ENST00000552810.1	-	54	7763	c.7420G>A	c.(7420-7422)Gtt>Att	p.V2474I	RNA5SP364_ENST00000516938.1_RNA|CEP290_ENST00000309041.7_Missense_Mutation_p.V2476I|CEP290_ENST00000547691.2_Missense_Mutation_p.V1534I|CEP290_ENST00000397838.3_Missense_Mutation_p.V1534I|C12orf29_ENST00000356891.3_3'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2474					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GGGAAATTAACAGGACTTTCT	0.318																																						dbGAP											0													97.0	98.0	97.0					12																	88442981		1799	4058	5857	-	-	-	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.7420G>A	12.37:g.88442981C>T	ENSP00000448012:p.Val2474Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.V2476I	ENST00000552810.1	37	c.7426	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	.	15.09	2.729804	0.48833	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.62941	0.57;-0.01;-0.01;0.57	5.27	-3.33	0.04958	.	1.841180	0.02560	N	0.096585	T	0.30947	0.0781	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.14656	T	0.56	.	6.0689	0.19877	0.0:0.324:0.2341:0.4419	.	2474	O15078	CE290_HUMAN	I	1534;2474;2476;1534	ENSP00000446905:V1534I;ENSP00000448012:V2474I;ENSP00000308021:V2476I;ENSP00000380938:V1534I	ENSP00000308021:V2476I	V	-	1	0	CEP290	86967112	0.000000	0.05858	0.018000	0.16275	0.997000	0.91878	-1.642000	0.02006	-0.514000	0.06488	0.655000	0.94253	GTT	CEP290	-	NULL	ENSG00000198707		0.318	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	230	0.00	0	C	NM_025114		88442981	88442981	-1	no_errors	ENST00000309041	ensembl	human	known	69_37n	missense	30	33.33	15	SNP	0.001	T
CFHR5	81494	genome.wustl.edu	37	1	196967316	196967316	+	Silent	SNP	G	G	A	rs555221057	byFrequency	TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr1:196967316G>A	ENST00000256785.4	+	7	1138	c.1029G>A	c.(1027-1029)aaG>aaA	p.K343K	CFHR5_ENST00000367414.5_Silent_p.K367K			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	343	Sushi 6. {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						CATTACTCAAGCTATCTGGGA	0.308													G|||	4	0.000798722	0.0008	0.0	5008	,	,		14319	0.0		0.0	False		,,,				2504	0.0031					dbGAP											0													26.0	26.0	26.0					1																	196967316		2201	4294	6495	-	-	-	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.1029G>A	1.37:g.196967316G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK2	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.K367	ENST00000256785.4	37	c.1101	CCDS1387.1	1																																																																																			CFHR5	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP	ENSG00000134389		0.308	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	204	0.00	0	G	NM_030787		196967316	196967316	+1	no_errors	ENST00000367414	ensembl	human	known	69_37n	silent	97	14.16	16	SNP	0.000	A
CLDN6	9074	genome.wustl.edu	37	16	3065517	3065517	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr16:3065517G>A	ENST00000396925.1	-	3	934	c.506C>T	c.(505-507)gCg>gTg	p.A169V	CLDN6_ENST00000328796.4_Missense_Mutation_p.A169V|CLDN6_ENST00000572154.1_Intron|TNFRSF12A_ENST00000573001.1_5'Flank			P56747	CLD6_HUMAN	claudin 6	169					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GCCTGAGGCCGCCCAGCCCAA	0.657																																						dbGAP											0													15.0	19.0	17.0					16																	3065517		2195	4296	6491	-	-	-	SO:0001583	missense	0			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.506C>T	16.37:g.3065517G>A	ENSP00000380131:p.Ala169Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQP9|D3DUA5	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6	p.A169V	ENST00000396925.1	37	c.506	CCDS10488.1	16	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327624	0.81690	.	.	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.86694	-2.16;-2.16	4.77	4.77	0.60923	.	0.148540	0.45606	D	0.000348	D	0.90400	0.6995	L	0.53671	1.685	0.48185	D	0.999606	D	0.76494	0.999	P	0.62885	0.908	D	0.88879	0.3338	10	0.34782	T	0.22	.	15.6608	0.77186	0.0:0.0:1.0:0.0	.	169	P56747	CLD6_HUMAN	V	169	ENSP00000380131:A169V;ENSP00000328674:A169V	ENSP00000328674:A169V	A	-	2	0	CLDN6	3005518	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	4.058000	0.57463	2.639000	0.89480	0.561000	0.74099	GCG	CLDN6	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000184697		0.657	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN6	HGNC	protein_coding	OTTHUMT00000250988.1	11	0.00	0	G	NM_021195		3065517	3065517	-1	no_errors	ENST00000328796	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.994	A
CNGA1	1259	genome.wustl.edu	37	4	47938686	47938686	+	Silent	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr4:47938686G>A	ENST00000514170.1	-	11	2144	c.1825C>T	c.(1825-1827)Ctg>Ttg	p.L609L	CNGA1_ENST00000402813.3_Silent_p.L678L|CNGA1_ENST00000358519.4_Silent_p.L609L|CNGA1_ENST00000420489.2_Silent_p.L609L|CNGA1_ENST00000544810.1_Silent_p.L609L			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	609					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	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)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTTAGATCCAGTAGACCATCT	0.438																																						dbGAP											0													172.0	166.0	168.0					4																	47938686		1920	4140	6060	-	-	-	SO:0001819	synonymous_variant	0			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1825C>T	4.37:g.47938686G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L678	ENST00000514170.1	37	c.2032	CCDS43226.1	4																																																																																			CNGA1	-	NULL	ENSG00000198515		0.438	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding	OTTHUMT00000372070.2	110	0.00	0	G	NM_000087		47938686	47938686	-1	no_errors	ENST00000402813	ensembl	human	known	69_37n	silent	31	31.11	14	SNP	0.246	A
COL19A1	1310	genome.wustl.edu	37	6	70840095	70840095	+	Nonsense_Mutation	SNP	G	G	T	rs187031631	byFrequency	TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr6:70840095G>T	ENST00000322773.4	+	18	1465	c.1363G>T	c.(1363-1365)Gga>Tga	p.G455*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.G77*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	455	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACATGAAGCTGGAGGCCTGAA	0.383																																						dbGAP											0													75.0	79.0	78.0					6																	70840095		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1363G>T	6.37:g.70840095G>T	ENSP00000316030:p.Gly455*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.G455*	ENST00000322773.4	37	c.1363	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	1.459	-0.562830	0.03939	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	.	.	.	3.59	-1.6	0.08426	.	0.964628	0.08566	N	0.926768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	4.0964	0.09993	0.4685:0.1835:0.348:0.0	.	.	.	.	X	455;77;29	.	ENSP00000316030:G455X	G	+	1	0	COL19A1	70896816	0.807000	0.29009	0.000000	0.03702	0.076000	0.17211	-0.197000	0.09518	-0.373000	0.07979	-0.229000	0.12294	GGA	COL19A1	-	NULL	ENSG00000082293		0.383	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	301	0.66	2	G			70840095	70840095	+1	no_errors	ENST00000322773	ensembl	human	known	69_37n	nonsense	191	25.68	66	SNP	0.000	T
CSMD1	64478	genome.wustl.edu	37	8	3015484	3015484	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr8:3015484C>T	ENST00000520002.1	-	40	6407	c.5852G>A	c.(5851-5853)cGt>cAt	p.R1951H	CSMD1_ENST00000400186.3_Missense_Mutation_p.R1951H|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1950H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1950H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1951H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1950H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1951H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1951	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AATGTGGGAACGGCCCTGTTT	0.408																																						dbGAP											0													39.0	37.0	38.0					8																	3015484		1876	4045	5921	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5852G>A	8.37:g.3015484C>T	ENSP00000430733:p.Arg1951His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R1951H	ENST00000520002.1	37	c.5852		8	.	.	.	.	.	.	.	.	.	.	C	3.963	-0.009984	0.07727	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.45	3.66	0.41972	Complement control module (2);Sushi/SCR/CCP (3);	0.068629	0.64402	D	0.000014	T	0.45736	0.1357	N	0.01048	-1.04	0.44780	D	0.997786	D;B;B;B	0.76494	0.999;0.002;0.009;0.002	P;B;B;B	0.61201	0.885;0.004;0.006;0.002	T	0.47598	-0.9105	10	0.07175	T	0.84	.	8.7944	0.34870	0.0:0.7686:0.0:0.2314	.	1951;1951;1950;1951	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4	.;CSMD1_HUMAN;.;.	H	1951;1951;1812;1950;1950;1950	ENSP00000383047:R1951H;ENSP00000430733:R1951H;ENSP00000441462:R1950H;ENSP00000446243:R1950H;ENSP00000441675:R1950H	ENSP00000320445:R1812H	R	-	2	0	CSMD1	3002891	0.998000	0.40836	0.700000	0.30305	0.960000	0.62799	3.256000	0.51492	0.662000	0.31006	0.655000	0.94253	CGT	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	61	0.00	0	C	NM_033225		3015484	3015484	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	32	33.33	16	SNP	0.863	T
COL22A1	169044	genome.wustl.edu	37	8	139697498	139697498	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr8:139697498C>T	ENST00000303045.6	-	38	3366	c.2920G>A	c.(2920-2922)Gct>Act	p.A974T	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.A974T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	974	Collagen-like 8.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCCCAGGAGCACCAGGATCT	0.582										HNSCC(7;0.00092)																												dbGAP											0													45.0	46.0	46.0					8																	139697498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2920G>A	8.37:g.139697498C>T	ENSP00000303153:p.Ala974Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.A974T	ENST00000303045.6	37	c.2920	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	1.674	-0.508224	0.04231	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93604	-3.25;-3.25	4.42	-0.114	0.13564	.	1.104040	0.07117	U	0.843298	D	0.87633	0.6226	L	0.41236	1.265	0.09310	N	1	B;B	0.23650	0.03;0.089	B;B	0.22880	0.025;0.042	T	0.72141	-0.4380	10	0.14252	T	0.57	.	6.6183	0.22788	0.4857:0.3337:0.1806:0.0	.	974;974	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	T	974;974;687	ENSP00000303153:A974T;ENSP00000387655:A974T	ENSP00000303153:A974T	A	-	1	0	COL22A1	139766680	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	-0.278000	0.08490	0.089000	0.17243	0.442000	0.29010	GCT	COL22A1	-	pfam_Collagen	ENSG00000169436		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	47	0.00	0	C	XM_291257		139697498	139697498	-1	no_errors	ENST00000303045	ensembl	human	known	69_37n	missense	32	41.82	23	SNP	0.002	T
DGKD	8527	genome.wustl.edu	37	2	234357797	234357797	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr2:234357797G>A	ENST00000264057.2	+	15	1675	c.1663G>A	c.(1663-1665)Gat>Aat	p.D555N	DGKD_ENST00000409813.3_Missense_Mutation_p.D511N	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	555					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GACCTTGGACGATGAGTCCCA	0.587																																						dbGAP											0													162.0	161.0	161.0					2																	234357797		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1663G>A	2.37:g.234357797G>A	ENSP00000264057:p.Asp555Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.D555N	ENST00000264057.2	37	c.1663	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820180	0.71028	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79454	-1.1;-1.27	4.71	4.71	0.59529	.	0.062774	0.64402	D	0.000007	T	0.65780	0.2724	L	0.29908	0.895	0.46564	D	0.999106	B;P;B	0.44946	0.353;0.846;0.353	B;B;B	0.33521	0.042;0.165;0.067	T	0.71424	-0.4597	10	0.46703	T	0.11	.	18.2344	0.89945	0.0:0.0:1.0:0.0	.	439;511;555	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	N	555;511	ENSP00000264057:D555N;ENSP00000386455:D511N	ENSP00000264057:D555N	D	+	1	0	DGKD	234022536	1.000000	0.71417	0.400000	0.26346	0.962000	0.63368	6.455000	0.73497	2.640000	0.89533	0.655000	0.94253	GAT	DGKD	-	NULL	ENSG00000077044		0.587	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	97	0.00	0	G	NM_003648		234357797	234357797	+1	no_errors	ENST00000264057	ensembl	human	known	69_37n	missense	66	24.14	21	SNP	0.990	A
DGKG	1608	genome.wustl.edu	37	3	185969589	185969589	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr3:185969589C>T	ENST00000265022.3	-	19	2259	c.1720G>A	c.(1720-1722)Gtc>Atc	p.V574I	DGKG_ENST00000344484.4_Missense_Mutation_p.V549I|DGKG_ENST00000544847.1_Missense_Mutation_p.V515I|DGKG_ENST00000382164.4_Missense_Mutation_p.V535I	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	574					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTGTATGGGACCTGGTCCCCG	0.507																																						dbGAP											0													191.0	176.0	181.0					3																	185969589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1720G>A	3.37:g.185969589C>T	ENSP00000265022:p.Val574Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.V574I	ENST00000265022.3	37	c.1720	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060698	0.55432	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	D;D;D;D	0.84516	-1.68;-1.66;-1.86;-1.51	5.06	4.19	0.49359	.	0.164666	0.39544	N	0.001330	T	0.81621	0.4861	L	0.52126	1.63	0.53005	D	0.999969	B;B;B;B	0.13594	0.002;0.008;0.007;0.002	B;B;B;B	0.23419	0.025;0.046;0.028;0.008	T	0.77824	-0.2444	10	0.42905	T	0.14	.	12.8546	0.57878	0.0:0.9192:0.0:0.0808	.	515;549;535;574	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	I	574;549;535;515;538	ENSP00000265022:V574I;ENSP00000339777:V549I;ENSP00000371599:V535I;ENSP00000440507:V515I	ENSP00000265022:V574I	V	-	1	0	DGKG	187452283	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.768000	0.62293	1.372000	0.46190	0.467000	0.42956	GTC	DGKG	-	NULL	ENSG00000058866		0.507	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	137	0.00	0	C			185969589	185969589	-1	no_errors	ENST00000265022	ensembl	human	known	69_37n	missense	57	66.08	113	SNP	1.000	T
AGO2	27161	genome.wustl.edu	37	8	141549439	141549439	+	Missense_Mutation	SNP	A	A	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr8:141549439A>T	ENST00000220592.5	-	16	2261	c.2149T>A	c.(2149-2151)Tgc>Agc	p.C717S	AGO2_ENST00000519980.1_Missense_Mutation_p.C717S	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	717	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TTGTCAGTGCAGAAGAGCCGG	0.587																																						dbGAP											0													81.0	79.0	79.0					8																	141549439		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2149T>A	8.37:g.141549439A>T	ENSP00000220592:p.Cys717Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.C717S	ENST00000220592.5	37	c.2149	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447587	0.63178	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.27402	1.67;1.67	5.09	5.09	0.68999	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	L	0.28608	0.87	0.80722	D	1	B;B	0.26935	0.027;0.164	B;B	0.38327	0.23;0.271	T	0.12785	-1.0534	10	0.40728	T	0.16	-45.9677	15.1618	0.72791	1.0:0.0:0.0:0.0	.	717;717	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	S	717	ENSP00000220592:C717S;ENSP00000430176:C717S	ENSP00000220592:C717S	C	-	1	0	EIF2C2	141618621	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.262000	0.95591	2.032000	0.59987	0.533000	0.62120	TGC	EIF2C2	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000123908		0.587	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	48	0.00	0	A			141549439	141549439	-1	no_errors	ENST00000220592	ensembl	human	known	69_37n	missense	54	27.03	20	SNP	1.000	T
EPS8	2059	genome.wustl.edu	37	12	15800121	15800121	+	Missense_Mutation	SNP	T	T	C			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr12:15800121T>C	ENST00000281172.5	-	15	1944	c.1508A>G	c.(1507-1509)cAc>cGc	p.H503R	EPS8_ENST00000543523.1_Missense_Mutation_p.H503R|EPS8_ENST00000543612.1_Missense_Mutation_p.H503R|EPS8_ENST00000540613.1_Missense_Mutation_p.H243R|EPS8_ENST00000542903.1_Missense_Mutation_p.H243R	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	503					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTGGTCCAGGTGGGATCCTCT	0.448																																						dbGAP											0													157.0	142.0	147.0					12																	15800121		2203	4300	6503	-	-	-	SO:0001583	missense	0			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1508A>G	12.37:g.15800121T>C	ENSP00000281172:p.His503Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.H503R	ENST00000281172.5	37	c.1508	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	T	3.443	-0.113580	0.06881	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.05855	3.54;3.54;3.54;3.38;3.38	4.26	0.00848	0.14075	.	0.988280	0.08241	N	0.976158	T	0.04092	0.0114	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.47983	-0.9074	10	0.17369	T	0.5	-7.6747	5.5916	0.17303	0.3822:0.0:0.1184:0.4994	.	503	Q12929	EPS8_HUMAN	R	503;503;503;243;243;503	ENSP00000441867:H503R;ENSP00000281172:H503R;ENSP00000442388:H503R;ENSP00000441888:H243R;ENSP00000437806:H243R	ENSP00000281172:H503R	H	-	2	0	EPS8	15691388	0.409000	0.25368	0.010000	0.14722	0.527000	0.34593	0.279000	0.18771	0.231000	0.21079	0.460000	0.39030	CAC	EPS8	-	NULL	ENSG00000151491		0.448	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	131	0.00	0	T			15800121	15800121	-1	no_errors	ENST00000281172	ensembl	human	known	69_37n	missense	69	21.35	19	SNP	0.039	C
F7	2155	genome.wustl.edu	37	13	113771834	113771834	+	Silent	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr13:113771834C>T	ENST00000375581.3	+	8	764	c.729C>T	c.(727-729)atC>atT	p.I243I	F7_ENST00000541084.1_Silent_p.I174I|F7_ENST00000346342.3_Silent_p.I221I	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	243	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGACCCTGATCAACACCATCT	0.577																																						dbGAP											0													193.0	171.0	178.0					13																	113771834		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.729C>T	13.37:g.113771834C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6	p.I243	ENST00000375581.3	37	c.729	CCDS9528.1	13																																																																																			F7	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	ENSG00000057593		0.577	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	F7	HGNC	protein_coding	OTTHUMT00000045838.4	102	0.00	0	C	NM_000131		113771834	113771834	+1	no_errors	ENST00000375581	ensembl	human	known	69_37n	silent	58	27.50	22	SNP	0.000	T
FLRT2	23768	genome.wustl.edu	37	14	86089263	86089263	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr14:86089263C>T	ENST00000330753.4	+	2	2172	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	FLRT2_ENST00000554746.1_Missense_Mutation_p.R469C	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	469	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CGTTCAGGAGCGCATAGTCAG	0.502																																						dbGAP											0													125.0	109.0	114.0					14																	86089263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1405C>T	14.37:g.86089263C>T	ENSP00000332879:p.Arg469Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV84|B7ZLP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.R469C	ENST00000330753.4	37	c.1405	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425444	0.62733	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58210	0.35;0.35	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67040	0.2851	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.65557	-0.6139	10	0.62326	D	0.03	-24.0392	20.8794	0.99867	0.0:1.0:0.0:0.0	.	469	O43155	FLRT2_HUMAN	C	469;469;122	ENSP00000332879:R469C;ENSP00000451050:R469C	ENSP00000332879:R469C	R	+	1	0	FLRT2	85159016	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	3.999000	0.57031	2.941000	0.99782	0.655000	0.94253	CGC	FLRT2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185070		0.502	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	66	0.00	0	C			86089263	86089263	+1	no_errors	ENST00000330753	ensembl	human	known	69_37n	missense	27	38.64	17	SNP	1.000	T
GPR17	2840	genome.wustl.edu	37	2	128409054	128409054	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr2:128409054G>A	ENST00000272644.3	+	3	903	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000544369.1_Missense_Mutation_p.V277M|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.V277M|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	277					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GGTCTGCTTCGTGCCCTACCA	0.652																																						dbGAP											0													144.0	116.0	126.0					2																	128409054		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.829G>A	2.37:g.128409054G>A	ENSP00000272644:p.Val277Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt	p.V277M	ENST00000272644.3	37	c.829	CCDS2148.1	2	.	.	.	.	.	.	.	.	.	.	.	16.63	3.177447	0.57692	.	.	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.72394	-0.65;-0.65;-0.65	5.34	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.071281	0.64402	D	0.000019	T	0.79070	0.4384	L	0.47190	1.495	0.47214	D	0.999351	D	0.89917	1.0	D	0.74023	0.982	T	0.78175	-0.2306	9	.	.	.	.	15.9785	0.80089	0.0:0.1351:0.8649:0.0	.	277	Q13304	GPR17_HUMAN	M	277	ENSP00000442982:V277M;ENSP00000272644:V277M;ENSP00000376741:V277M	.	V	+	1	0	GPR17	128125524	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.623000	0.54224	1.225000	0.43566	0.561000	0.74099	GTG	GPR17	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	ENSG00000144230		0.652	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR17	HGNC	protein_coding	OTTHUMT00000254390.1	20	0.00	0	G			128409054	128409054	+1	no_errors	ENST00000272644	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	A
GPR64	10149	genome.wustl.edu	37	X	19017274	19017274	+	Missense_Mutation	SNP	C	C	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chrX:19017274C>A	ENST00000379869.3	-	26	2617	c.2454G>T	c.(2452-2454)aaG>aaT	p.K818N	GPR64_ENST00000357991.3_Missense_Mutation_p.K815N|GPR64_ENST00000360279.4_Missense_Mutation_p.K796N|GPR64_ENST00000340581.3_Missense_Mutation_p.K699N|GPR64_ENST00000379878.3_Missense_Mutation_p.K802N|GPR64_ENST00000357544.3_Missense_Mutation_p.K788N|GPR64_ENST00000379873.2_Missense_Mutation_p.K818N|GPR64_ENST00000356606.4_Missense_Mutation_p.K804N|GPR64_ENST00000379876.1_Missense_Mutation_p.K794N|GPR64_ENST00000354791.3_Missense_Mutation_p.K802N	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	818	Poly-Lys.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCAGTTGCTTCTTCTTTTTAA	0.433																																						dbGAP											0													138.0	135.0	136.0					X																	19017274		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2454G>T	X.37:g.19017274C>A	ENSP00000369198:p.Lys818Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.K818N	ENST00000379869.3	37	c.2454	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650830	0.67472	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.88	5.88	0.94601	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000018	T	0.53077	0.1774	L	0.50919	1.6	0.47819	D	0.999522	B;B;P;B;B;P;P;B;B;B;P	0.48503	0.007;0.047;0.821;0.011;0.024;0.821;0.821;0.38;0.38;0.014;0.911	B;B;P;B;B;P;P;B;B;B;P	0.54965	0.02;0.025;0.501;0.077;0.077;0.501;0.557;0.306;0.306;0.058;0.765	T	0.53690	-0.8403	10	0.66056	D	0.02	.	14.3988	0.67029	0.0:0.9258:0.0:0.0742	.	699;780;788;794;802;818;796;804;815;818;802	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	N	818;802;802;794;788;818;796;815;804;699	ENSP00000369202:K818N;ENSP00000369207:K802N;ENSP00000346845:K802N;ENSP00000369205:K794N;ENSP00000350152:K788N;ENSP00000369198:K818N;ENSP00000353421:K796N;ENSP00000350680:K815N;ENSP00000349015:K804N;ENSP00000344972:K699N	ENSP00000344972:K699N	K	-	3	2	GPR64	18927195	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.775000	0.38584	2.475000	0.83589	0.594000	0.82650	AAG	GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000173698		0.433	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	239	0.00	0	C			19017274	19017274	-1	no_errors	ENST00000379869	ensembl	human	known	69_37n	missense	116	36.07	66	SNP	1.000	A
IPPK	64768	genome.wustl.edu	37	9	95378177	95378177	+	Silent	SNP	G	G	A	rs112162638		TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr9:95378177G>A	ENST00000287996.3	-	13	1689	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N	IPPK_ENST00000375522.1_Silent_p.N143N|IPPK_ENST00000486841.1_5'UTR|CENPP_ENST00000375587.3_3'UTR	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	471					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACATCACGGCGTTGTCTTTGG	0.453																																						dbGAP											0													213.0	158.0	177.0					9																	95378177		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.1413C>T	9.37:g.95378177G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9F7|Q9H7V8	Silent	SNP	pfam_Ins_P5_2-kin	p.N471	ENST00000287996.3	37	c.1413	CCDS6699.1	9																																																																																			IPPK	-	NULL	ENSG00000127080		0.453	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	208	0.00	0	G	NM_022755		95378177	95378177	-1	no_errors	ENST00000287996	ensembl	human	known	69_37n	silent	184	18.94	43	SNP	0.000	A
IQSEC1	9922	genome.wustl.edu	37	3	12977013	12977013	+	Silent	SNP	C	C	A	rs543348361		TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr3:12977013C>A	ENST00000273221.4	-	3	1761	c.1545G>T	c.(1543-1545)tcG>tcT	p.S515S	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	515					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAAGGCAGGCGAGTCCCAGC	0.607																																						dbGAP											0													142.0	125.0	131.0					3																	12977013		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1545G>T	3.37:g.12977013C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94863|Q96D85	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.A516S	ENST00000273221.4	37	c.1546	CCDS33703.1	3	.	.	.	.	.	.	.	.	.	.	C	7.862	0.726267	0.15439	.	.	ENSG00000144711	ENST00000450726	.	.	.	4.43	-8.87	0.00792	.	.	.	.	.	T	0.42086	0.1187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45906	-0.9229	4	.	.	.	.	4.3463	0.11134	0.0781:0.1297:0.2975:0.4947	.	.	.	.	S	516	.	.	A	-	1	0	IQSEC1	12952013	0.000000	0.05858	0.118000	0.21660	0.982000	0.71751	-3.861000	0.00348	-2.214000	0.00734	-0.136000	0.14681	GCC	IQSEC1	-	NULL	ENSG00000144711		0.607	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	58	0.00	0	C	NM_014869		12977013	12977013	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000450726	ensembl	human	known	69_37n	missense	19	62.50	45	SNP	0.511	A
ITGAD	3681	genome.wustl.edu	37	16	31424209	31424209	+	Silent	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr16:31424209G>A	ENST00000389202.2	+	15	1807	c.1758G>A	c.(1756-1758)gcG>gcA	p.A586A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	586					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTGGGCAGGCGCTGAGTGGGG	0.632																																						dbGAP											0													54.0	55.0	55.0					16																	31424209		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1758G>A	16.37:g.31424209G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15575|Q15576	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A586	ENST00000389202.2	37	c.1758	CCDS32438.1	16																																																																																			ITGAD	-	smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000156886		0.632	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	53	0.00	0	G	NM_005353		31424209	31424209	+1	no_errors	ENST00000389202	ensembl	human	known	69_37n	silent	23	43.90	18	SNP	0.094	A
KCNB1	3745	genome.wustl.edu	37	20	47989776	47989776	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr20:47989776G>A	ENST00000371741.4	-	2	2487	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	774					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GCTTTTGGGGGGGCTGGAGTC	0.552																																						dbGAP											0													204.0	223.0	216.0					20																	47989776		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2321C>T	20.37:g.47989776G>A	ENSP00000360806:p.Pro774Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14193	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.P774L	ENST00000371741.4	37	c.2321	CCDS13418.1	20	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574996	0.45902	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96300	-3.97	5.56	4.6	0.57074	.	0.371203	0.27586	N	0.018702	D	0.94288	0.8165	M	0.62723	1.935	0.80722	D	1	P	0.36990	0.577	B	0.34489	0.184	D	0.94010	0.7283	10	0.49607	T	0.09	.	13.5112	0.61513	0.0756:0.0:0.9244:0.0	.	774	Q14721	KCNB1_HUMAN	L	774;729	ENSP00000360806:P774L	ENSP00000360806:P774L	P	-	2	0	KCNB1	47423183	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.403000	0.66338	2.598000	0.87819	0.655000	0.94253	CCC	KCNB1	-	NULL	ENSG00000158445		0.552	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	184	0.00	0	G	NM_004975		47989776	47989776	-1	no_errors	ENST00000371741	ensembl	human	known	69_37n	missense	175	23.91	55	SNP	1.000	A
KCNH4	23415	genome.wustl.edu	37	17	40322182	40322182	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr17:40322182C>T	ENST00000264661.3	-	8	1665	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	KCNH4_ENST00000607371.1_Missense_Mutation_p.V445M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	445					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTGGCACACACGTTGCCAAAG	0.622																																					NSCLC(117;707 1703 2300 21308 31858)	dbGAP											0													75.0	61.0	66.0					17																	40322182		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1333G>A	17.37:g.40322182C>T	ENSP00000264661:p.Val445Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.V445M	ENST00000264661.3	37	c.1333	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961099	0.74016	.	.	ENSG00000089558	ENST00000264661	D	0.97710	-4.5	4.07	4.07	0.47477	Ion transport (1);	0.000000	0.33253	N	0.005110	D	0.98529	0.9509	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.99671	1.0996	10	0.87932	D	0	.	16.7989	0.85609	0.0:1.0:0.0:0.0	.	445	Q9UQ05	KCNH4_HUMAN	M	445	ENSP00000264661:V445M	ENSP00000264661:V445M	V	-	1	0	KCNH4	37575708	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	5.865000	0.69583	2.262000	0.75019	0.313000	0.20887	GTG	KCNH4	-	pfam_Ion_trans_dom,pfam_Ion_trans_2	ENSG00000089558		0.622	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	11	0.00	0	C	NM_012285		40322182	40322182	-1	no_errors	ENST00000264661	ensembl	human	known	69_37n	missense	9	55.00	11	SNP	1.000	T
KRTAP20-3	337985	genome.wustl.edu	37	21	32015215	32015215	+	Missense_Mutation	SNP	A	A	G			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr21:32015215A>G	ENST00000382826.2	+	1	33	c.8A>G	c.(7-9)tAc>tGc	p.Y3C		NM_001128077.1	NP_001121549.1	Q3LI60	KR203_HUMAN	keratin associated protein 20-3	3						intermediate filament (GO:0005882)				breast(1)	1						ACAATGAGCTACTATGGCAAC	0.428																																						dbGAP											0													169.0	137.0	147.0					21																	32015215		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46642.1	21q22.11	2010-07-07	2008-02-26	2008-02-26	ENSG00000206104	ENSG00000206104		"""Keratin associated proteins"""	34001	protein-coding gene	gene with protein product			"""keratin associated protein 19 pseudogene 4"""	KRTAP19P4			Standard	NM_001128077		Approved	KAP20.3, KAP19D	uc010gls.1	Q3LI60	OTTHUMG00000057798	ENST00000382826.2:c.8A>G	21.37:g.32015215A>G	ENSP00000372276:p.Tyr3Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_KRTAP	p.Y3C	ENST00000382826.2	37	c.8	CCDS46642.1	21	.	.	.	.	.	.	.	.	.	.	A	4.544	0.101004	0.08731	.	.	ENSG00000206104	ENST00000382826	T	0.20463	2.07	4.21	0.587	0.17439	.	.	.	.	.	T	0.15565	0.0375	.	.	.	0.09310	N	1	P	0.45348	0.856	B	0.39660	0.306	T	0.13683	-1.0500	8	0.87932	D	0	.	5.9575	0.19281	0.6683:0.0:0.3317:0.0	.	3	Q3LI60	KR203_HUMAN	C	3	ENSP00000372276:Y3C	ENSP00000372276:Y3C	Y	+	2	0	KRTAP20-3	30937086	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.042000	0.12063	0.008000	0.14787	0.482000	0.46254	TAC	KRTAP20-3	-	pfam_KRTAP	ENSG00000206104		0.428	KRTAP20-3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KRTAP20-3	HGNC	protein_coding	OTTHUMT00000128250.2	270	0.00	0	A	NM_001128077		32015215	32015215	+1	no_errors	ENST00000382826	ensembl	human	novel	69_37n	missense	108	23.94	34	SNP	0.000	G
MAEL	84944	genome.wustl.edu	37	1	166990949	166990949	+	Missense_Mutation	SNP	G	G	A	rs141476246		TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr1:166990949G>A	ENST00000367872.4	+	12	1406	c.1162G>A	c.(1162-1164)Gtt>Att	p.V388I	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.V357I	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	388					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AAACAGCAGCGTTCGGGGAAG	0.378																																						dbGAP											0													94.0	92.0	93.0					1																	166990949		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1162G>A	1.37:g.166990949G>A	ENSP00000356846:p.Val388Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain	p.V388I	ENST00000367872.4	37	c.1162	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069822	0.36566	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.47528	0.84;0.85	5.38	5.38	0.77491	.	0.113377	0.39615	N	0.001305	T	0.12390	0.0301	N	0.14661	0.345	0.30880	N	0.73154	B;P	0.40107	0.449;0.703	B;B	0.23150	0.044;0.044	T	0.08146	-1.0736	10	0.27785	T	0.31	.	14.5121	0.67794	0.0:0.0:1.0:0.0	.	357;388	E9JVC3;Q96JY0	.;MAEL_HUMAN	I	388;357;110	ENSP00000356846:V388I;ENSP00000356844:V357I	ENSP00000356844:V357I	V	+	1	0	MAEL	165257573	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.503000	0.45407	2.793000	0.96121	0.655000	0.94253	GTT	MAEL	-	NULL	ENSG00000143194		0.378	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	HGNC	protein_coding	OTTHUMT00000083239.1	240	0.00	0	G	NM_032858		166990949	166990949	+1	no_errors	ENST00000367872	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	1.000	A
MAGEC2	51438	genome.wustl.edu	37	X	141290906	141290906	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chrX:141290906G>C	ENST00000247452.3	-	3	1215	c.868C>G	c.(868-870)Ccc>Gcc	p.P290A		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	290	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GAACTGTGGGGCACCTCCCGA	0.502										HNSCC(46;0.14)																												dbGAP											0													83.0	83.0	83.0					X																	141290906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.868C>G	X.37:g.141290906G>C	ENSP00000354660:p.Pro290Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P290A	ENST00000247452.3	37	c.868	CCDS14678.1	X	.	.	.	.	.	.	.	.	.	.	-	7.527	0.657961	0.14645	.	.	ENSG00000046774	ENST00000247452	T	0.05717	3.4	0.988	0.988	0.19796	.	0.222036	0.38111	U	0.001802	T	0.13243	0.0321	M	0.63428	1.95	0.09310	N	1	P	0.42456	0.78	P	0.57244	0.816	T	0.03981	-1.0987	10	0.34782	T	0.22	.	4.9988	0.14253	0.0:0.0:1.0:0.0	.	290	Q9UBF1	MAGC2_HUMAN	A	290	ENSP00000354660:P290A	ENSP00000354660:P290A	P	-	1	0	MAGEC2	141118572	0.026000	0.19158	0.005000	0.12908	0.005000	0.04900	1.054000	0.30455	0.770000	0.33336	0.284000	0.19432	CCC	MAGEC2	-	pfam_MAGE,pfscan_MAGE	ENSG00000046774		0.502	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	96	0.00	0	G	NM_016249		141290906	141290906	-1	no_errors	ENST00000247452	ensembl	human	known	69_37n	missense	52	41.57	37	SNP	0.004	C
MAP1LC3C	440738	genome.wustl.edu	37	1	242159611	242159611	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr1:242159611T>A	ENST00000357246.3	-	4	362	c.298A>T	c.(298-300)Acc>Tcc	p.T100S		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	100					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCTGCCATGGTTGCGCTCATG	0.572																																						dbGAP											0													208.0	180.0	190.0					1																	242159611		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.298A>T	1.37:g.242159611T>A	ENSP00000349785:p.Thr100Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJY8|A2RUP0	Missense_Mutation	SNP	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	p.T100S	ENST00000357246.3	37	c.298	CCDS31074.1	1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191089	0.38707	.	.	ENSG00000197769	ENST00000357246	T	0.42131	0.98	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	L	0.58810	1.83	0.46185	D	0.998915	P	0.37207	0.587	B	0.41135	0.348	T	0.39683	-0.9602	10	0.38643	T	0.18	.	13.057	0.58986	0.0:0.0:0.0:1.0	.	100	Q9BXW4	MLP3C_HUMAN	S	100	ENSP00000349785:T100S	ENSP00000349785:T100S	T	-	1	0	MAP1LC3C	240226234	1.000000	0.71417	0.965000	0.40720	0.359000	0.29487	5.177000	0.65032	1.750000	0.51863	0.523000	0.50628	ACC	MAP1LC3C	-	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	ENSG00000197769		0.572	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3C	HGNC	protein_coding	OTTHUMT00000096185.1	113	0.00	0	T	NM_001004343		242159611	242159611	-1	no_errors	ENST00000357246	ensembl	human	known	69_37n	missense	136	20.93	36	SNP	1.000	A
MRPL15	29088	genome.wustl.edu	37	8	55060178	55060178	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr8:55060178C>G	ENST00000260102.4	+	5	864	c.790C>G	c.(790-792)Cag>Gag	p.Q264E		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	264					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GGATCCAAGGCAGATTTTCTT	0.398																																						dbGAP											0													76.0	77.0	77.0					8																	55060178		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.790C>G	8.37:g.55060178C>G	ENSP00000260102:p.Gln264Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96Q54|Q9H0Y1	Missense_Mutation	SNP	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.Q264E	ENST00000260102.4	37	c.790	CCDS6158.1	8	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758018	0.69648	.	.	ENSG00000137547	ENST00000260102	T	0.65549	-0.16	5.33	5.33	0.75918	.	0.048663	0.85682	D	0.000000	T	0.81158	0.4764	M	0.87547	2.89	0.80722	D	1	D	0.60575	0.988	P	0.61201	0.885	D	0.84792	0.0779	10	0.87932	D	0	-26.4024	19.0385	0.92989	0.0:1.0:0.0:0.0	.	264	Q9P015	RM15_HUMAN	E	264	ENSP00000260102:Q264E	ENSP00000260102:Q264E	Q	+	1	0	MRPL15	55222731	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.436000	0.80404	2.484000	0.83849	0.650000	0.86243	CAG	MRPL15	-	NULL	ENSG00000137547		0.398	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL15	HGNC	protein_coding	OTTHUMT00000378254.1	203	0.00	0	C	NM_014175		55060178	55060178	+1	no_errors	ENST00000260102	ensembl	human	known	69_37n	missense	149	19.89	37	SNP	1.000	G
NAT10	55226	genome.wustl.edu	37	11	34160944	34160944	+	Missense_Mutation	SNP	G	G	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr11:34160944G>T	ENST00000257829.3	+	23	2527	c.2321G>T	c.(2320-2322)cGg>cTg	p.R774L	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.R702L	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	774	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TTCCGACGGCGGTTCCTAGCC	0.577																																						dbGAP											0													148.0	152.0	150.0					11																	34160944		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2321G>T	11.37:g.34160944G>T	ENSP00000257829:p.Arg774Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.R774L	ENST00000257829.3	37	c.2321	CCDS7889.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.154243	0.94645	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.52983	0.64;0.66	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.78007	0.4216	H	0.94847	3.59	0.80722	D	1	D	0.69078	0.997	D	0.71184	0.972	D	0.84767	0.0765	10	0.87932	D	0	-26.9476	19.0096	0.92868	0.0:0.0:1.0:0.0	.	774	Q9H0A0	NAT10_HUMAN	L	774;702	ENSP00000257829:R774L;ENSP00000433011:R702L	ENSP00000257829:R774L	R	+	2	0	NAT10	34117520	1.000000	0.71417	0.993000	0.49108	0.844000	0.47949	9.799000	0.99117	2.563000	0.86464	0.549000	0.68633	CGG	NAT10	-	NULL	ENSG00000135372		0.577	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1	89	0.00	0	G	NM_024662		34160944	34160944	+1	no_errors	ENST00000257829	ensembl	human	known	69_37n	missense	39	56.18	50	SNP	1.000	T
NIN	51199	genome.wustl.edu	37	14	51237255	51237255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr14:51237255G>A	ENST00000382041.3	-	12	1475	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	NIN_ENST00000382043.4_Nonsense_Mutation_p.R429*|NIN_ENST00000453196.1_Nonsense_Mutation_p.R429*|NIN_ENST00000245441.5_Nonsense_Mutation_p.R429*|NIN_ENST00000389868.3_Nonsense_Mutation_p.R429*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R429*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R429*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	429					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)					GCTGCTATTCGCTCCTTGTAC	0.438			T	PDGFRB	MPD																																	dbGAP		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													138.0	125.0	129.0					14																	51237255		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.1285C>T	14.37:g.51237255G>A	ENSP00000371472:p.Arg429*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Nonsense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.R429*	ENST00000382041.3	37	c.1285	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.879765	0.97062	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	.	.	.	5.61	4.63	0.57726	.	0.150649	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1812	14.6376	0.68702	0.0:0.0:0.7718:0.2282	.	.	.	.	X	429;429;429;429;435;429;429;429;391	.	ENSP00000245441:R429X	R	-	1	2	NIN	50307005	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	3.929000	0.56514	2.658000	0.90341	0.650000	0.86243	CGA	NIN	-	NULL	ENSG00000100503		0.438	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	299	0.00	0	G	NM_182946		51237255	51237255	-1	no_errors	ENST00000245441	ensembl	human	known	69_37n	nonsense	231	18.88	54	SNP	0.934	A
NLRP9	338321	genome.wustl.edu	37	19	56243838	56243838	+	Silent	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr19:56243838G>A	ENST00000332836.2	-	2	1386	c.1359C>T	c.(1357-1359)gcC>gcT	p.A453A		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	453	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAAACATGGCGGCACAAAACT	0.498																																						dbGAP											0													120.0	121.0	121.0					19																	56243838		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1359C>T	19.37:g.56243838G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN12|Q86W27	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A453	ENST00000332836.2	37	c.1359	CCDS12934.1	19																																																																																			NLRP9	-	NULL	ENSG00000185792		0.498	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	67	0.00	0	G	NM_176820		56243838	56243838	-1	no_errors	ENST00000332836	ensembl	human	known	69_37n	silent	38	34.48	20	SNP	0.808	A
NPR2	4882	genome.wustl.edu	37	9	35792632	35792632	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr9:35792632C>G	ENST00000342694.2	+	1	482	c.227C>G	c.(226-228)tCt>tGt	p.S76C		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	76					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGCGCCTGCTCTGAGTACCTG	0.662																																						dbGAP											0													87.0	81.0	83.0					9																	35792632		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.227C>G	9.37:g.35792632C>G	ENSP00000341083:p.Ser76Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.S76C	ENST00000342694.2	37	c.227	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836363	0.71373	.	.	ENSG00000159899	ENST00000342694	T	0.76578	-1.03	4.09	4.09	0.47781	Extracellular ligand-binding receptor (1);	0.000000	0.43579	D	0.000543	D	0.86912	0.6047	M	0.76838	2.35	0.47949	D	0.999553	D;D	0.76494	0.999;0.997	D;P	0.72075	0.976;0.87	D	0.88485	0.3071	10	0.66056	D	0.02	.	13.9714	0.64242	0.0:1.0:0.0:0.0	.	76;76	P20594-2;P20594	.;ANPRB_HUMAN	C	76	ENSP00000341083:S76C	ENSP00000341083:S76C	S	+	2	0	NPR2	35782632	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.477000	0.60223	2.261000	0.74972	0.563000	0.77884	TCT	NPR2	-	pfam_ANF_lig-bd_rcpt	ENSG00000159899		0.662	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	11	0.00	0	C			35792632	35792632	+1	no_errors	ENST00000342694	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	1.000	G
NRXN3	9369	genome.wustl.edu	37	14	80328161	80328161	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr14:80328161G>A	ENST00000557594.1	+	6	2721	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N	NRXN3_ENST00000281127.7_Missense_Mutation_p.D385N|NRXN3_ENST00000335750.5_Missense_Mutation_p.D1014N|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.D412N|NRXN3_ENST00000554719.1_Missense_Mutation_p.D1014N	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	590					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAGGAACAGGGACGAGGGGTC	0.582																																						dbGAP											0													84.0	74.0	78.0					14																	80328161		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1768G>A	14.37:g.80328161G>A	ENSP00000451672:p.Asp590Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.D1014N	ENST00000557594.1	37	c.3040		14	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671299	0.67814	.	.	ENSG00000021645	ENST00000330071;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.73897	-0.79;-0.79;0.56;1.06;0.83	6.16	6.16	0.99307	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	D	0.87229	0.6125	M	0.79693	2.465	0.44899	D	0.997919	D;D;D;D	0.67145	0.988;0.995;0.989;0.996	P;P;P;D	0.67548	0.871;0.864;0.887;0.952	D	0.85721	0.1325	9	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	412;385;590;1014	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	N	1596;1014;1014;590;385;412	ENSP00000451648:D1014N;ENSP00000338349:D1014N;ENSP00000451672:D590N;ENSP00000281127:D385N;ENSP00000394426:D412N	.	D	+	1	0	NRXN3	79397914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GAC	NRXN3	-	smart_Neurexin-like	ENSG00000021645		0.582	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	45	0.00	0	G	NM_001105250		80328161	80328161	+1	no_errors	ENST00000335750	ensembl	human	known	69_37n	missense	22	37.14	13	SNP	1.000	A
OGG1	4968	genome.wustl.edu	37	3	9792081	9792081	+	Silent	SNP	G	G	C			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr3:9792081G>C	ENST00000344629.7	+	1	454	c.111G>C	c.(109-111)ctG>ctC	p.L37L	OGG1_ENST00000302036.7_Silent_p.L37L|OGG1_ENST00000349503.5_Silent_p.L37L|OGG1_ENST00000302003.7_Silent_p.L37L|OGG1_ENST00000383826.5_Silent_p.L37L|OGG1_ENST00000339511.5_Silent_p.L37L|OGG1_ENST00000436092.1_3'UTR|OGG1_ENST00000449570.2_Silent_p.L37L|OGG1_ENST00000302008.8_Silent_p.L37L			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	37					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GCCTGGACCTGGTTCTGCCTT	0.647								Base excision repair (BER), DNA glycosylases																														dbGAP											0													61.0	54.0	57.0					3																	9792081		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.111G>C	3.37:g.9792081G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase	p.G15R	ENST00000344629.7	37	c.43	CCDS2581.1	3	.	.	.	.	.	.	.	.	.	.	G	6.676	0.493374	0.12702	.	.	ENSG00000114026	ENST00000441094	.	.	.	5.85	3.97	0.46021	.	.	.	.	.	T	0.55401	0.1918	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52917	-0.8511	4	.	.	.	-15.264	6.0584	0.19824	0.0725:0.1344:0.6541:0.139	.	.	.	.	R	18	.	.	G	+	1	0	OGG1	9767081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.304000	0.33482	1.484000	0.48361	0.655000	0.94253	GGT	OGG1	-	pfam_OGG_N	ENSG00000114026		0.647	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OGG1	HGNC	protein_coding	OTTHUMT00000214223.2	32	0.00	0	G	NM_016821		9792081	9792081	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000429146	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	1.000	C
OTX2	5015	genome.wustl.edu	37	14	57269058	57269058	+	Nonsense_Mutation	SNP	G	G	A	rs104894464		TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr14:57269058G>A	ENST00000555006.1	-	4	673	c.265C>T	c.(265-267)Cga>Tga	p.R89*	OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Nonsense_Mutation_p.R89*|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000339475.5_Nonsense_Mutation_p.R97*|OTX2_ENST00000554788.1_3'UTR			P32243	OTX2_HUMAN	orthodenticle homeobox 2	89			R -> G (in MCOPS5). {ECO:0000269|PubMed:15846561}.		axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R97*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAGCTCTTCGATTCTTAAAC	0.423																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)	GRCh37	CM051593	OTX2	M	rs104894464						105.0	113.0	110.0					14																	57269058		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.265C>T	14.37:g.57269058G>A	ENSP00000452336:p.Arg89*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Nonsense_Mutation	SNP	pfam_Otx_TF_C,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Otx2_TF,prints_Otx_TF,pfscan_Homeodomain	p.R97*	ENST00000555006.1	37	c.289	CCDS41960.1	14	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868417	0.91587	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	.	.	.	5.78	5.78	0.91487	.	0.000000	0.36628	N	0.002496	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9921	0.92796	0.0:0.0:1.0:0.0	.	.	.	.	X	97;89;89;97;89	.	ENSP00000343819:R97X	R	-	1	2	OTX2	56338811	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.716000	0.61916	2.722000	0.93159	0.557000	0.71058	CGA	OTX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000165588		0.423	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX2	HGNC	protein_coding	OTTHUMT00000411522.1	128	0.00	0	G	NM_021728.		57269058	57269058	-1	no_errors	ENST00000339475	ensembl	human	known	69_37n	nonsense	59	46.85	52	SNP	1.000	A
OXR1	55074	genome.wustl.edu	37	8	107696538	107696538	+	Missense_Mutation	SNP	T	T	G			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr8:107696538T>G	ENST00000442977.2	+	5	578	c.479T>G	c.(478-480)gTa>gGa	p.V160G	OXR1_ENST00000497705.1_Missense_Mutation_p.V92G|OXR1_ENST00000531443.1_Missense_Mutation_p.V159G|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000445937.1_Missense_Mutation_p.V159G|OXR1_ENST00000312046.6_Missense_Mutation_p.V152G|OXR1_ENST00000517566.2_Missense_Mutation_p.V159G	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	160					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CTAAGCCCCGTAAGTCCTCTG	0.403																																						dbGAP											0													281.0	276.0	278.0					8																	107696538		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.479T>G	8.37:g.107696538T>G	ENSP00000405424:p.Val160Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.V160G	ENST00000442977.2	37	c.479	CCDS56548.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.69|13.69	2.313333|2.313333	0.40996|0.40996	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000517686;ENST00000497705;ENST00000312046|ENST00000517455	T;T;T;T;T;T;T|.	0.43294|.	2.69;2.69;2.7;2.7;0.95;1.79;2.67|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.376124|.	0.28354|.	N|.	0.015641|.	T|.	0.57095|.	0.2030|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.28400|.	0.21;0.134;0.142;0.21|.	B;B;B;B|.	0.36666|.	0.208;0.064;0.23;0.208|.	T|.	0.53940|.	-0.8367|.	10|.	0.23891|.	T|.	0.37|.	-19.519|-19.519	15.3595|15.3595	0.74460|0.74460	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	152;160;92;159|.	Q8N573-2;Q8N573;Q8N573-3;Q8N573-5|.	.;OXR1_HUMAN;.;.|.	G|E	159;159;159;160;90;92;152|76	ENSP00000402918:V159G;ENSP00000431966:V159G;ENSP00000429205:V159G;ENSP00000405424:V160G;ENSP00000429438:V90G;ENSP00000431014:V92G;ENSP00000311026:V152G|.	ENSP00000311026:V152G|.	V|X	+|+	2|1	0|0	OXR1|OXR1	107765714|107765714	1.000000|1.000000	0.71417|0.71417	0.824000|0.824000	0.32777|0.32777	0.956000|0.956000	0.61745|0.61745	7.679000|7.679000	0.84048|0.84048	2.109000|2.109000	0.64355|0.64355	0.528000|0.528000	0.53228|0.53228	GTA|TAA	OXR1	-	NULL	ENSG00000164830		0.403	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding		642	0.00	0	T	NM_181354		107696538	107696538	+1	no_errors	ENST00000442977	ensembl	human	known	69_37n	missense	431	21.21	116	SNP	0.998	G
PCDHA7	56141	genome.wustl.edu	37	5	140215374	140215374	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr5:140215374C>T	ENST00000525929.1	+	1	1406	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P469L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(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)			GAGAACAACCCGCCGGGCTGC	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	dbGAP											0													43.0	49.0	47.0					5																	140215374		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.1406C>T	5.37:g.140215374C>T	ENSP00000436426:p.Pro469Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P469L	ENST00000525929.1	37	c.1406	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005913	0.19199	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.54071	0.59;0.59	4.0	4.0	0.46444	Cadherin (3);Cadherin-like (1);	0.859520	0.09113	U	0.846809	T	0.70290	0.3207	M	0.74546	2.27	0.19300	N	0.99998	P;D	0.65815	0.737;0.995	B;P	0.61874	0.288;0.895	T	0.58154	-0.7686	10	0.87932	D	0	.	12.1714	0.54161	0.0:0.9122:0.0:0.0878	.	469;469	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	L	469	ENSP00000436426:P469L;ENSP00000367365:P469L	ENSP00000367365:P469L	P	+	2	0	PCDHA7	140195558	0.000000	0.05858	0.998000	0.56505	0.203000	0.24098	0.259000	0.18405	1.951000	0.56629	0.298000	0.19748	CCG	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000204963		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	14	0.00	0	C	NM_018910		140215374	140215374	+1	no_errors	ENST00000525929	ensembl	human	known	69_37n	missense	9	52.63	10	SNP	0.220	T
PCDHGA5	56110	genome.wustl.edu	37	5	140745927	140745927	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr5:140745927G>A	ENST00000518069.1	+	1	2030	c.2030G>A	c.(2029-2031)aGt>aAt	p.S677N	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	677	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTAGGCAGTATCAAGACC	0.607																																						dbGAP											0													278.0	293.0	288.0					5																	140745927		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2030G>A	5.37:g.140745927G>A	ENSP00000429834:p.Ser677Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S677N	ENST00000518069.1	37	c.2030	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	0.242	-1.013013	0.02095	.	.	ENSG00000253485	ENST00000518069	T	0.48836	0.8	4.84	0.85	0.18980	Cadherin (1);	.	.	.	.	T	0.28863	0.0716	N	0.16656	0.425	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.19148	0.024;0.011	T	0.22312	-1.0220	9	0.24483	T	0.36	.	8.8758	0.35345	0.3389:0.0:0.6611:0.0	.	677;677	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	N	677	ENSP00000429834:S677N	ENSP00000429834:S677N	S	+	2	0	PCDHGA5	140726111	0.011000	0.17503	0.053000	0.19242	0.067000	0.16453	0.377000	0.20552	0.176000	0.19873	0.563000	0.77884	AGT	PCDHGA5	-	pfscan_Cadherin	ENSG00000253485		0.607	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	19	0.00	0	G	NM_018918		140745927	140745927	+1	no_errors	ENST00000518069	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	0.115	A
PGAP2	27315	genome.wustl.edu	37	11	3845298	3845298	+	Silent	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr11:3845298C>T	ENST00000463452.2	+	3	434	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PGAP2_ENST00000300730.6_Silent_p.F174F|PGAP2_ENST00000396993.4_Missense_Mutation_p.R71W|PGAP2_ENST00000532017.1_3'UTR|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396991.2_Silent_p.F178F|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000465307.2_Missense_Mutation_p.R121W|PGAP2_ENST00000396986.2_Silent_p.F174F|PGAP2_ENST00000493547.2_Silent_p.F117F|PGAP2_ENST00000278243.4_Silent_p.F178F	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	117					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GCCTCAACTTCGGCCTCAATG	0.607																																						dbGAP											0													93.0	82.0	86.0					11																	3845298		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.351C>T	11.37:g.3845298C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	NULL	p.R71W	ENST00000463452.2	37	c.211	CCDS58112.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.96|10.96	1.500067|1.500067	0.26861|0.26861	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396993;ENST00000532523;ENST00000465307|ENST00000459679;ENST00000464906	.|.	.|.	.|.	5.7|5.7	-4.15|-4.15	0.03881|0.03881	.|.	.|.	.|.	.|.	.|.	T|T	0.47967|0.47967	0.1474|0.1474	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B|.	0.15930|.	0.015;0.005|.	B;B|.	0.08055|.	0.003;0.001|.	T|T	0.47071|0.47071	-0.9145|-0.9145	7|4	0.87932|.	D|.	0|.	-23.6395|-23.6395	6.2078|6.2078	0.20612|0.20612	0.0:0.2451:0.2643:0.4906|0.0:0.2451:0.2643:0.4906	.|.	121;71|.	B7Z2X5;A8MZF5|.	.;.|.	W|L	71;136;121|148;208	.|.	ENSP00000380190:R71W|.	R|S	+|+	1|2	2|0	PGAP2|PGAP2	3801874|3801874	0.000000|0.000000	0.05858|0.05858	0.104000|0.104000	0.21259|0.21259	0.978000|0.978000	0.69477|0.69477	-0.680000|-0.680000	0.05197|0.05197	-0.397000|-0.397000	0.07691|0.07691	0.650000|0.650000	0.86243|0.86243	CGG|TCG	PGAP2	-	NULL	ENSG00000148985		0.607	PGAP2-049	KNOWN	basic|CCDS	protein_coding	PGAP2	HGNC	protein_coding	OTTHUMT00000383260.1	71	0.00	0	C			3845298	3845298	+1	no_errors	ENST00000396993	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	0.002	T
PIEZO2	63895	genome.wustl.edu	37	18	10773432	10773432	+	Silent	SNP	G	G	A	rs545780657		TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr18:10773432G>A	ENST00000503781.3	-	18	2687	c.2688C>T	c.(2686-2688)tcC>tcT	p.S896S	PIEZO2_ENST00000580640.1_Silent_p.S921S|PIEZO2_ENST00000302079.6_Silent_p.S896S|PIEZO2_ENST00000383408.2_Silent_p.S184S	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	896	Glu-rich.				cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										cctcctcctcggattcctcct	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18893	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													47.0	42.0	43.0					18																	10773432		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2688C>T	18.37:g.10773432G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.S910	ENST00000503781.3	37	c.2730		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.532	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	97	0.00	0	G	NM_022068		10773432	10773432	-1	no_errors	ENST00000582913	ensembl	human	known	69_37n	silent	31	50.00	31	SNP	0.202	A
PLSCR2	57047	genome.wustl.edu	37	3	146171913	146171913	+	Missense_Mutation	SNP	T	T	G			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr3:146171913T>G	ENST00000497985.1	-	7	1017	c.578A>C	c.(577-579)tAt>tCt	p.Y193S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.Y120S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	193					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						CTGAGTAACATAACCTACTGG	0.338																																						dbGAP											0													92.0	93.0	93.0					3																	146171913		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.578A>C	3.37:g.146171913T>G	ENSP00000420132:p.Tyr193Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.Y120S	ENST00000497985.1	37	c.359	CCDS56284.1	3	.	.	.	.	.	.	.	.	.	.	.	29.2	4.988510	0.93106	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.20738	2.05;2.05;2.05	3.57	3.57	0.40892	.	0.178938	0.22850	U	0.054862	T	0.40791	0.1131	M	0.70787	2.145	0.46542	D	0.999098	D;D	0.63046	0.992;0.979	D;P	0.68483	0.958;0.876	T	0.19192	-1.0313	10	0.23891	T	0.37	.	12.5973	0.56476	0.0:0.0:0.0:1.0	.	213;120	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	S	120;212;193;120	ENSP00000338707:Y120S;ENSP00000420132:Y193S;ENSP00000418444:Y120S	ENSP00000338707:Y120S	Y	-	2	0	PLSCR2	147654603	1.000000	0.71417	0.836000	0.33094	0.943000	0.58893	3.699000	0.54778	1.619000	0.50296	0.334000	0.21626	TAT	PLSCR2	-	pfam_Scramblase	ENSG00000163746		0.338	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	PLSCR2	HGNC	protein_coding	OTTHUMT00000355264.1	482	0.00	0	T	NM_020359		146171913	146171913	-1	no_errors	ENST00000336685	ensembl	human	known	69_37n	missense	52	82.19	240	SNP	1.000	G
PPFIA1	8500	genome.wustl.edu	37	11	70202345	70202345	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr11:70202345G>A	ENST00000253925.7	+	19	2782	c.2567G>A	c.(2566-2568)cGt>cAt	p.R856H	AP000487.4_ENST00000324630.5_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R856H	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	856					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAAAAAAATCGTAAACTTCAA	0.403																																						dbGAP											0													94.0	100.0	98.0					11																	70202345		2200	4294	6494	-	-	-	SO:0001583	missense	0			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2567G>A	11.37:g.70202345G>A	ENSP00000253925:p.Arg856His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R856H	ENST00000253925.7	37	c.2567	CCDS31627.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.980001|3.980001	0.74474|0.74474	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950|ENST00000528750	T;T|.	0.21734|.	1.99;1.99|.	4.95|4.95	4.01|4.01	0.46588|0.46588	.|.	0.074575|.	0.53938|.	N|.	0.000051|.	T|T	0.74680|0.74680	0.3748|0.3748	M|M	0.77103|0.77103	2.36|2.36	0.44719|0.44719	D|D	0.997719|0.997719	P;D|.	0.59767|.	0.92;0.986|.	B;P|.	0.46685|.	0.243;0.524|.	T|T	0.76219|0.76219	-0.3039|-0.3039	10|5	0.87932|.	D|.	0|.	.|.	15.2862|15.2862	0.73831|0.73831	0.0:0.1409:0.8591:0.0|0.0:0.1409:0.8591:0.0	.|.	856;856|.	Q13136;Q13136-2|.	LIPA1_HUMAN;.|.	H|I	856;856;353|299	ENSP00000253925:R856H;ENSP00000374198:R856H|.	ENSP00000253925:R856H|.	R|V	+|+	2|1	0|0	PPFIA1|PPFIA1	69879993|69879993	1.000000|1.000000	0.71417|0.71417	0.642000|0.642000	0.29436|0.29436	0.984000|0.984000	0.73092|0.73092	9.478000|9.478000	0.97927|0.97927	1.164000|1.164000	0.42652|0.42652	0.655000|0.655000	0.94253|0.94253	CGT|GTA	PPFIA1	-	NULL	ENSG00000131626		0.403	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	162	0.00	0	G	NM_003626		70202345	70202345	+1	no_errors	ENST00000253925	ensembl	human	known	69_37n	missense	311	10.63	37	SNP	0.895	A
PXDNL	137902	genome.wustl.edu	37	8	52359611	52359611	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr8:52359611G>A	ENST00000356297.4	-	12	1578	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S493L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	493	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCCCCAACGAACTGACTGC	0.468																																						dbGAP											0													172.0	168.0	169.0					8																	52359611		2016	4177	6193	-	-	-	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1478C>T	8.37:g.52359611G>A	ENSP00000348645:p.Ser493Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.S493L	ENST00000356297.4	37	c.1478	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	3.477	-0.106735	0.06924	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.69926	-0.44;-0.44	4.02	3.14	0.36123	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56426	0.1984	L	0.58669	1.825	0.20196	N	0.99992	P	0.35077	0.483	B	0.29663	0.105	T	0.40979	-0.9534	9	0.28530	T	0.3	.	7.9065	0.29765	0.1197:0.0:0.8803:0.0	.	493	A1KZ92	PXDNL_HUMAN	L	493	ENSP00000348645:S493L;ENSP00000444865:S493L	ENSP00000348645:S493L	S	-	2	0	PXDNL	52522164	0.982000	0.34865	0.419000	0.26584	0.026000	0.11368	2.327000	0.43858	0.673000	0.31224	-0.363000	0.07495	TCG	PXDNL	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000147485		0.468	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	137	0.00	0	G	NM_144651		52359611	52359611	-1	no_errors	ENST00000356297	ensembl	human	known	69_37n	missense	96	37.25	57	SNP	0.695	A
RAE1	8480	genome.wustl.edu	37	20	55953115	55953115	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr20:55953115G>A	ENST00000395841.2	+	12	1487	c.1067G>A	c.(1066-1068)cGt>cAt	p.R356H	RAE1_ENST00000395840.2_Missense_Mutation_p.R356H|RAE1_ENST00000371242.2_Missense_Mutation_p.R356H	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	356					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ATTTTCCTGCGTAATGCAGCC	0.403																																						dbGAP											0													40.0	40.0	40.0					20																	55953115		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.1067G>A	20.37:g.55953115G>A	ENSP00000379182:p.Arg356His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R356H	ENST00000395841.2	37	c.1067	CCDS13458.1	20	.	.	.	.	.	.	.	.	.	.	G	8.493	0.862391	0.17178	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000395840	T;T;T	0.65178	-0.14;-0.14;-0.14	5.62	3.69	0.42338	.	0.099196	0.64402	D	0.000002	T	0.32285	0.0824	N	0.05230	-0.09	0.80722	D	1	B	0.32693	0.38	B	0.23275	0.045	T	0.24368	-1.0162	10	0.06494	T	0.89	-22.4679	12.2436	0.54558	0.1374:0.0:0.8626:0.0	.	356	P78406	RAE1L_HUMAN	H	356	ENSP00000379182:R356H;ENSP00000360286:R356H;ENSP00000379181:R356H	ENSP00000360286:R356H	R	+	2	0	RAE1	55386522	1.000000	0.71417	0.973000	0.42090	0.981000	0.71138	9.538000	0.98072	0.749000	0.32854	-0.258000	0.10820	CGT	RAE1	-	NULL	ENSG00000101146		0.403	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAE1	HGNC	protein_coding	OTTHUMT00000079842.2	222	0.45	1	G			55953115	55953115	+1	no_errors	ENST00000371242	ensembl	human	known	69_37n	missense	299	13.58	47	SNP	1.000	A
RAPGEF6	51735	genome.wustl.edu	37	5	130769161	130769161	+	Silent	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr5:130769161G>A	ENST00000509018.1	-	25	4141	c.3936C>T	c.(3934-3936)caC>caT	p.H1312H	RAPGEF6_ENST00000296859.6_Silent_p.H1320H|CTC-432M15.3_ENST00000514667.1_Silent_p.H1362H|RAPGEF6_ENST00000307984.5_Silent_p.H1325H|RAPGEF6_ENST00000507093.1_Silent_p.H1320H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1312	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCCCTGAAGCGTGCTCTGTCT	0.517																																					Melanoma(168;435 1955 13113 13877 23213)	dbGAP											0													204.0	151.0	169.0					5																	130769161		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3936C>T	5.37:g.130769161G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.H1312	ENST00000509018.1	37	c.3936	CCDS34225.1	5																																																																																			RAPGEF6	-	NULL	ENSG00000158987		0.517	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	168	0.00	0	G	NM_016340		130769161	130769161	-1	no_errors	ENST00000509018	ensembl	human	known	69_37n	silent	65	57.52	88	SNP	0.610	A
RBMXL3	139804	genome.wustl.edu	37	X	114425210	114425210	+	Silent	SNP	G	G	A	rs12399213		TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chrX:114425210G>A	ENST00000424776.3	+	1	1248	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	402	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						CCCACAGCGGGGGCCGCAACA	0.647																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1206G>A	X.37:g.114425210G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXC0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G402	ENST00000424776.3	37	c.1206	CCDS55478.1	X																																																																																			RBMXL3	-	NULL	ENSG00000175718		0.647	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	8	0.00	0	G	NM_001145346		114425210	114425210	+1	no_errors	ENST00000424776	ensembl	human	known	69_37n	silent	5	58.33	7	SNP	0.083	A
RDM1	201299	genome.wustl.edu	37	17	34249590	34249590	+	Missense_Mutation	SNP	C	C	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr17:34249590C>A	ENST00000293273.6	-	5	703	c.658G>T	c.(658-660)Gtt>Ttt	p.V220F	RDM1_ENST00000430160.2_Missense_Mutation_p.V197F|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000394529.3_Missense_Mutation_p.V197F|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000394528.3_Missense_Mutation_p.V220F|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000419453.2_Intron	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	220					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTAGAACAACAATCAACAGT	0.338								Other identified genes with known or suspected DNA repair function																														dbGAP											0													151.0	148.0	149.0					17																	34249590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.658G>T	17.37:g.34249590C>A	ENSP00000293273:p.Val220Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom	p.V220F	ENST00000293273.6	37	c.658	CCDS11301.1	17	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161924	0.57368	.	.	ENSG00000187456	ENST00000293273;ENST00000394529;ENST00000430160;ENST00000394528	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	3.42	3.42	0.39159	.	0.184484	0.35466	N	0.003181	T	0.49558	0.1564	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.63046	0.977;0.971;0.992;0.977	P;P;P;P	0.62298	0.9;0.839;0.9;0.9	T	0.55866	-0.8073	10	0.72032	D	0.01	-9.424	12.7191	0.57131	0.0:1.0:0.0:0.0	.	197;197;220;220	B4DZ74;Q8NG50-2;A8MY68;Q8NG50	.;.;.;RDM1_HUMAN	F	220;197;197;220	ENSP00000293273:V220F;ENSP00000378037:V197F;ENSP00000413421:V197F;ENSP00000378036:V220F	ENSP00000293273:V220F	V	-	1	0	RDM1	31273703	0.689000	0.27690	0.984000	0.44739	0.836000	0.47400	1.141000	0.31528	1.901000	0.55032	0.585000	0.79938	GTT	RDM1	-	NULL	ENSG00000187456		0.338	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDM1	HGNC	protein_coding	OTTHUMT00000256588.2	346	0.29	1	C	NM_145654		34249590	34249590	-1	no_errors	ENST00000293273	ensembl	human	known	69_37n	missense	402	12.80	59	SNP	0.956	A
RIC8A	60626	genome.wustl.edu	37	11	212446	212446	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr11:212446G>C	ENST00000526104.1	+	6	2344	c.1000G>C	c.(1000-1002)Gtg>Ctg	p.V334L	RIC8A_ENST00000527696.1_Missense_Mutation_p.V328L|RIC8A_ENST00000325207.5_Missense_Mutation_p.V334L			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	334					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTAGCTCCCGTGCTGAGCGT	0.587																																						dbGAP											0													65.0	56.0	59.0					11																	212446		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1000G>C	11.37:g.212446G>C	ENSP00000432008:p.Val334Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.V334L	ENST00000526104.1	37	c.1000		11	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245508	0.80024	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696	T;T;T	0.46063	0.88;0.88;0.88	3.89	3.89	0.44902	Synembryn (1);Armadillo-type fold (1);	0.380493	0.26542	N	0.023790	T	0.53514	0.1801	M	0.75447	2.3	0.48452	D	0.999659	D;P;P	0.54397	0.966;0.944;0.931	P;P;P	0.56127	0.792;0.718;0.595	T	0.55573	-0.8120	10	0.07030	T	0.85	-25.4202	15.7484	0.77965	0.0:0.0:1.0:0.0	.	328;334;334	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	L	334;334;328	ENSP00000432008:V334L;ENSP00000325941:V334L;ENSP00000434833:V328L	ENSP00000325941:V334L	V	+	1	0	RIC8A	202446	1.000000	0.71417	0.968000	0.41197	0.965000	0.64279	3.971000	0.56831	2.130000	0.65690	0.561000	0.74099	GTG	RIC8A	-	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	ENSG00000177963		0.587	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	HGNC	protein_coding	OTTHUMT00000384761.1	30	0.00	0	G	NM_021932		212446	212446	+1	no_errors	ENST00000325207	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.993	C
RND1	27289	genome.wustl.edu	37	12	49251827	49251827	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr12:49251827G>C	ENST00000309739.5	-	5	781	c.651C>G	c.(649-651)atC>atG	p.I217M		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	217					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						AGGTAGAAGAGATGAGTTCAG	0.547																																						dbGAP											0													129.0	122.0	124.0					12																	49251827		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.651C>G	12.37:g.49251827G>C	ENSP00000308461:p.Ile217Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9P7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I217M	ENST00000309739.5	37	c.651	CCDS8771.1	12	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549381	0.27652	.	.	ENSG00000172602	ENST00000550607;ENST00000309739	T;T	0.37235	3.12;1.21	5.1	5.1	0.69264	.	0.179146	0.47455	D	0.000233	T	0.23054	0.0557	N	0.22421	0.69	0.42698	D	0.993602	B	0.34015	0.435	B	0.25405	0.06	T	0.08889	-1.0700	10	0.87932	D	0	-2.7548	11.6607	0.51345	0.0848:0.0:0.9152:0.0	.	217	Q92730	RND1_HUMAN	M	111;217	ENSP00000447059:I111M;ENSP00000308461:I217M	ENSP00000308461:I217M	I	-	3	3	RND1	47538094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.913000	0.48790	2.764000	0.94973	0.555000	0.69702	ATC	RND1	-	NULL	ENSG00000172602		0.547	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RND1	HGNC	protein_coding	OTTHUMT00000408915.1	239	0.00	0	G	NM_014470		49251827	49251827	-1	no_errors	ENST00000309739	ensembl	human	known	69_37n	missense	188	23.27	57	SNP	1.000	C
RPGR	6103	genome.wustl.edu	37	X	38145650	38145651	+	Intron	INS	-	-	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chrX:38145650_38145651insT	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Frame_Shift_Ins_p.E868fs|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccttcttcctccccttctcctt	0.604																																						dbGAP											0			GRCh37	CD033264	orf15	D			,	30,3025		2,24,2,1339,323					,	1.5	0.0			13	93,4966		2,65,24,1867,1167	no	frameshift,intron	RPGR	NM_001034853.1,NM_000328.2	,	4,89,26,3206,1490	A1A1,A1R,A1,RR,R		1.8383,0.982,1.5159	,	,		123,7991				-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+695->A	X.37:g.38145650_38145651insT		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Frame_Shift_Ins	INS	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E867fs	ENST00000339363.3	37	c.2602_2601		X																																																																																			RPGR	-	NULL	ENSG00000156313		0.604	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		44	0.00	0	-	NM_000328		38145650	38145651	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	frame_shift_ins	6	40.00	4	INS	0.002:0.000	T
RYR2	6262	genome.wustl.edu	37	1	237551480	237551480	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr1:237551480G>A	ENST00000366574.2	+	10	1087	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R241Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R255Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	257	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)			GAAGAGCAGCGGAGGTTAGTA	0.463																																						dbGAP											0													95.0	92.0	93.0					1																	237551480		2038	4195	6233	-	-	-	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.770G>A	1.37:g.237551480G>A	ENSP00000355533:p.Arg257Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R255Q	ENST00000366574.2	37	c.764	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550206	0.45383	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.89415	-2.51;-2.51;-2.51	5.34	5.34	0.76211	MIR motif (2);MIR (2);	0.000000	0.56097	D	0.000035	D	0.86924	0.6050	N	0.20766	0.605	0.80722	D	1	D	0.76494	0.999	P	0.58130	0.833	T	0.83261	-0.0048	10	0.11182	T	0.66	-10.8942	15.9497	0.79823	0.0:0.0:1.0:0.0	.	257	Q92736	RYR2_HUMAN	Q	257;255;241	ENSP00000355533:R257Q;ENSP00000353174:R255Q;ENSP00000443798:R241Q	ENSP00000353174:R255Q	R	+	2	0	RYR2	235618103	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	8.443000	0.90320	2.502000	0.84385	0.655000	0.94253	CGG	RYR2	-	pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif	ENSG00000198626		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	142	0.00	0	G	NM_001035		237551480	237551480	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	56	53.72	65	SNP	1.000	A
SCN10A	6336	genome.wustl.edu	37	3	38793791	38793791	+	Missense_Mutation	SNP	G	G	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr3:38793791G>T	ENST00000449082.2	-	11	1673	c.1674C>A	c.(1672-1674)agC>agA	p.S558R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	558					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGTCAGGGTTGCTGGGTTGAG	0.602																																						dbGAP											0													114.0	116.0	115.0					3																	38793791		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1674C>A	3.37:g.38793791G>T	ENSP00000390600:p.Ser558Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.S558R	ENST00000449082.2	37	c.1674	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	6.186	0.402540	0.11696	.	.	ENSG00000185313	ENST00000449082	D	0.95756	-3.8	4.87	4.0	0.46444	.	4.143750	0.00424	N	0.000078	D	0.93648	0.7971	L	0.32530	0.975	0.09310	N	1	B	0.31054	0.306	B	0.34779	0.189	D	0.84524	0.0629	10	0.54805	T	0.06	.	10.8923	0.47002	0.0872:0.0:0.9128:0.0	.	558	Q9Y5Y9	SCNAA_HUMAN	R	558	ENSP00000390600:S558R	ENSP00000390600:S558R	S	-	3	2	SCN10A	38768795	0.000000	0.05858	0.343000	0.25615	0.062000	0.15995	-0.240000	0.08952	1.417000	0.47077	0.462000	0.41574	AGC	SCN10A	-	NULL	ENSG00000185313		0.602	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	144	0.00	0	G	NM_006514		38793791	38793791	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	missense	97	28.15	38	SNP	0.283	T
SCN2A	6326	genome.wustl.edu	37	2	166245632	166245632	+	Silent	SNP	C	C	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr2:166245632C>A	ENST00000375437.2	+	27	5606	c.5316C>A	c.(5314-5316)atC>atA	p.I1772I	SCN2A_ENST00000283256.6_Silent_p.I1772I|SCN2A_ENST00000357398.3_Silent_p.I1772I|SCN2A_ENST00000375427.2_Silent_p.I1772I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1772					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)	ACATGTACATCGCGGTCATCC	0.443																																						dbGAP											0													101.0	102.0	101.0					2																	166245632		2202	4281	6483	-	-	-	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.5316C>A	2.37:g.166245632C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	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.I1772	ENST00000375437.2	37	c.5316	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	ENSG00000136531		0.443	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	380	0.00	0	C	NM_021007		166245632	166245632	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	silent	35	48.53	33	SNP	0.956	A
SGK2	10110	genome.wustl.edu	37	20	42195142	42195142	+	Missense_Mutation	SNP	T	T	C			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr20:42195142T>C	ENST00000341458.4	+	1	406	c.187T>C	c.(187-189)Tct>Cct	p.S63P	SGK2_ENST00000426287.1_Missense_Mutation_p.S29P|SGK2_ENST00000373077.1_Missense_Mutation_p.S3P|SGK2_ENST00000373092.3_Missense_Mutation_p.S3P|SGK2_ENST00000423407.3_Missense_Mutation_p.S3P|SGK2_ENST00000373100.1_Missense_Mutation_p.S3P	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	63					intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGAATGAACTCTAGCCCAGC	0.597																																						dbGAP											0													85.0	86.0	86.0					20																	42195142		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.187T>C	20.37:g.42195142T>C	ENSP00000340608:p.Ser63Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.S63P	ENST00000341458.4	37	c.187	CCDS13320.1	20	.	.	.	.	.	.	.	.	.	.	T	10.39	1.337095	0.24253	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.63;-0.06;-0.64;-0.61;-0.62	3.62	2.53	0.30540	.	1.529490	0.04323	N	0.351077	T	0.49847	0.1581	N	0.14661	0.345	0.28851	N	0.896063	P;P;B	0.39282	0.531;0.666;0.0	B;B;B	0.29353	0.101;0.097;0.003	T	0.51068	-0.8752	10	0.52906	T	0.07	.	5.5115	0.16884	0.0:0.1255:0.0:0.8745	.	29;63;3	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	P	3;3;3;3;3;63;29	ENSP00000362192:S3P;ENSP00000362184:S3P;ENSP00000362168:S3P;ENSP00000396222:S3P;ENSP00000392795:S3P;ENSP00000340608:S63P;ENSP00000412214:S29P	ENSP00000340608:S63P	S	+	1	0	SGK2	41628556	0.803000	0.28956	0.977000	0.42913	0.486000	0.33341	0.238000	0.18004	0.768000	0.33290	0.459000	0.35465	TCT	SGK2	-	NULL	ENSG00000101049		0.597	SGK2-002	KNOWN	basic|CCDS	protein_coding	SGK2	HGNC	protein_coding	OTTHUMT00000080383.1	67	0.00	0	T			42195142	42195142	+1	no_errors	ENST00000341458	ensembl	human	known	69_37n	missense	75	31.19	34	SNP	0.978	C
SHOX	6473	genome.wustl.edu	37	X	591785	591785	+	Silent	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chrX:591785G>A	ENST00000554971.1	+	1	244	c.153G>A	c.(151-153)acG>acA	p.T51T	SHOX_ENST00000334060.3_Silent_p.T51T|SHOX_ENST00000381575.1_Silent_p.T51T|SHOX_ENST00000381578.1_Silent_p.T51T			O15266	SHOX_HUMAN	short stature homeobox	51					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCTGGGGACGTCGGATTCCA	0.602																																					Ovarian(95;18 1419 12424 14056 28266)	dbGAP											0													96.0	115.0	109.0					X																	591785		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.153G>A	X.37:g.591785G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00412|O00413|O15267	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_HTH_motif	p.T51	ENST00000554971.1	37	c.153	CCDS14107.1	X																																																																																			SHOX	-	NULL	ENSG00000185960		0.602	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOX	HGNC	protein_coding	OTTHUMT00000411999.3	78	0.00	0	G	NM_000451		591785	591785	+1	no_errors	ENST00000381578	ensembl	human	known	69_37n	silent	42	31.15	19	SNP	0.978	A
STXBP5	134957	genome.wustl.edu	37	6	147703925	147703926	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr6:147703925_147703926insA	ENST00000321680.6	+	27	3205_3206	c.3205_3206insA	c.(3205-3207)tccfs	p.S1069fs	STXBP5_ENST00000367481.3_Frame_Shift_Ins_p.S1033fs|STXBP5_ENST00000367480.3_Frame_Shift_Ins_p.S1016fs|STXBP5_ENST00000179882.6_Frame_Shift_Ins_p.S724fs	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1069					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGGAGAATCGTCCTCAGGAAAG	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	Exception_encountered	6.37:g.147703925_147703926insA	ENSP00000321826:p.Ser1069fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Frame_Shift_Ins	INS	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.S1069fs	ENST00000321680.6	37	c.3205_3206	CCDS47499.1	6																																																																																			STXBP5	-	NULL	ENSG00000164506		0.391	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	71	0.00	0	-			147703925	147703926	+1	no_errors	ENST00000321680	ensembl	human	known	69_37n	frame_shift_ins	8	27.27	3	INS	0.856:0.998	A
TEX14	56155	genome.wustl.edu	37	17	56690897	56690897	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr17:56690897C>T	ENST00000240361.8	-	9	993	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	TEX14_ENST00000349033.5_Missense_Mutation_p.R297Q|TEX14_ENST00000389934.3_Missense_Mutation_p.R297Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTAGGGGTGCCGCAGCTTGCT	0.468																																						dbGAP											0													102.0	96.0	98.0					17																	56690897		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.908G>A	17.37:g.56690897C>T	ENSP00000240361:p.Arg303Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.R303Q	ENST00000240361.8	37	c.908	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743492	0.89663	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.43688	0.94;0.94;0.94	5.68	5.68	0.88126	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.297752	0.28914	N	0.013725	T	0.53077	0.1774	L	0.39147	1.195	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.70716	0.97;0.966;0.966	T	0.51379	-0.8713	10	0.54805	T	0.06	-14.9602	11.7842	0.52032	0.0:0.9195:0.0:0.0805	.	303;297;297	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Q	303;297;297	ENSP00000240361:R303Q;ENSP00000374584:R297Q;ENSP00000268910:R297Q	ENSP00000240361:R303Q	R	-	2	0	TEX14	54045896	0.970000	0.33590	1.000000	0.80357	0.923000	0.55619	2.254000	0.43214	2.683000	0.91414	0.561000	0.74099	CGG	TEX14	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000121101		0.468	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	114	0.00	0	C			56690897	56690897	-1	no_errors	ENST00000240361	ensembl	human	known	69_37n	missense	22	75.00	66	SNP	1.000	T
TMEM57	55219	genome.wustl.edu	37	1	25783154	25783154	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr1:25783154C>T	ENST00000374343.4	+	5	663	c.484C>T	c.(484-486)Cct>Tct	p.P162S	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_Intron|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	162					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TATTGGGTACCCTGTGGTAAC	0.378																																						dbGAP											0													58.0	56.0	57.0					1																	25783154		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.484C>T	1.37:g.25783154C>T	ENSP00000363463:p.Pro162Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	pfam_Macoilin,superfamily_Prefoldin	p.P162S	ENST00000374343.4	37	c.484	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889966	0.91889	.	.	ENSG00000204178	ENST00000374343	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	M	0.69358	2.11	0.80722	D	1	D	0.60160	0.987	D	0.68943	0.961	T	0.79543	-0.1760	9	0.87932	D	0	-8.543	18.9315	0.92568	0.0:1.0:0.0:0.0	.	162	Q8N5G2	MACOI_HUMAN	S	162	.	ENSP00000363463:P162S	P	+	1	0	TMEM57	25655741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.480000	0.81109	2.690000	0.91761	0.557000	0.71058	CCT	TMEM57	-	pfam_Macoilin	ENSG00000204178		0.378	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	HGNC	protein_coding	OTTHUMT00000009659.2	114	0.00	0	C	NM_018202		25783154	25783154	+1	no_errors	ENST00000374343	ensembl	human	known	69_37n	missense	18	61.70	29	SNP	1.000	T
TNFSF10	8743	genome.wustl.edu	37	3	172224441	172224441	+	Silent	SNP	A	A	G			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr3:172224441A>G	ENST00000241261.2	-	5	809	c.687T>C	c.(685-687)agT>agC	p.S229S	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	229					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TAGACCAACAACTATTTCTAG	0.318																																						dbGAP											0													227.0	219.0	222.0					3																	172224441		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.687T>C	3.37:g.172224441A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1Y9B3	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF	p.S229	ENST00000241261.2	37	c.687	CCDS3219.1	3																																																																																			TNFSF10	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF	ENSG00000121858		0.318	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF10	HGNC	protein_coding	OTTHUMT00000346601.1	794	0.00	0	A			172224441	172224441	-1	no_errors	ENST00000241261	ensembl	human	known	69_37n	silent	973	15.02	172	SNP	0.300	G
TP53	7157	genome.wustl.edu	37	17	7578259	7578259	+	Missense_Mutation	SNP	A	A	C			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr17:7578259A>C	ENST00000269305.4	-	6	779	c.590T>G	c.(589-591)gTg>gGg	p.V197G	TP53_ENST00000359597.4_Missense_Mutation_p.V197G|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V197G|TP53_ENST00000445888.2_Missense_Mutation_p.V197G|TP53_ENST00000413465.2_Missense_Mutation_p.V197G|TP53_ENST00000420246.2_Missense_Mutation_p.V197G	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	197	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> E (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V197G(14)|p.0?(8)|p.V197E(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.V197A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(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)	ATTTCCTTCCACTCGGATAAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	47	Substitution - Missense(23)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Complex - deletion inframe(5)|Complex - frameshift(1)	vulva(6)|skin(6)|biliary_tract(5)|breast(5)|central_nervous_system(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(3)|upper_aerodigestive_tract(2)|stomach(2)|urinary_tract(2)|soft_tissue(1)|large_intestine(1)|endometrium(1)|lung(1)|liver(1)	GRCh37	CM994748	TP53	M							108.0	97.0	101.0					17																	7578259		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.590T>G	17.37:g.7578259A>C	ENSP00000269305:p.Val197Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V197G	ENST00000269305.4	37	c.590	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596107	0.46318	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99839	-7.07;-7.07;-7.07;-7.07;-7.07;-7.07;-7.07;-7.07	5.41	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.059878	0.64402	D	0.000004	D	0.99802	0.9915	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.984;1.0;0.998;1.0;1.0	D	0.97424	1.0011	10	0.87932	D	0	-16.054	11.0168	0.47693	0.8436:0.1564:0.0:0.0	.	158;197;197;104;197;197;197	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	197;197;197;197;197;197;186;104;65;104;65	ENSP00000410739:V197G;ENSP00000352610:V197G;ENSP00000269305:V197G;ENSP00000398846:V197G;ENSP00000391127:V197G;ENSP00000391478:V197G;ENSP00000425104:V65G;ENSP00000423862:V104G	ENSP00000269305:V197G	V	-	2	0	TP53	7518984	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	9.287000	0.95975	0.977000	0.38444	-0.316000	0.08728	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	216	0.91	2	A	NM_000546		7578259	7578259	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	44	71.97	113	SNP	1.000	C
TTLL4	9654	genome.wustl.edu	37	2	219611916	219611916	+	Splice_Site	SNP	C	C	T			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr2:219611916C>T	ENST00000392102.1	+	9	2505	c.2165C>T	c.(2164-2166)cCa>cTa	p.P722L	TTLL4_ENST00000442769.1_Intron|TTLL4_ENST00000258398.4_Splice_Site_p.P722L|TTLL4_ENST00000457313.1_Splice_Site_p.P557L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	722	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ATTGTGAAGCCAGTGAGTGAA	0.542																																					GBM(172;1818 2053 15407 20943 49753)	dbGAP											0													58.0	60.0	59.0					2																	219611916		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2166+1C>T	2.37:g.219611916C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6V5|Q8WW29	Nonsense_Mutation	SNP	pfam_Tub_tyr_ligase	p.Q166*	ENST00000392102.1	37	c.496	CCDS2422.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.450245|5.450245	0.96205|0.96205	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000448224|ENST00000457313;ENST00000392102;ENST00000258398	.|T;T;T	.|0.12672	.|2.66;2.66;2.66	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55273|0.55273	0.1910|0.1910	H|H	0.96662|0.96662	3.86|3.86	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.69862|0.69862	-0.5030|-0.5030	5|10	.|0.72032	.|D	.|0.01	.|.	19.2867|19.2867	0.94077|0.94077	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|557;722	.|E9PH58;Q14679	.|.;TTLL4_HUMAN	Y|L	54|557;722;722	.|ENSP00000393332:P557L;ENSP00000375951:P722L;ENSP00000258398:P722L	.|ENSP00000258398:P722L	H|P	+|+	1|2	0|0	TTLL4|TTLL4	219320160|219320160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.453000|7.453000	0.80700|0.80700	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CAC|CCA	TTLL4	-	pfam_Tub_tyr_ligase	ENSG00000135912		0.542	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL4	HGNC	protein_coding	OTTHUMT00000256726.1	115	0.00	0	C	NM_014640	Missense_Mutation	219611916	219611916	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000417196	ensembl	human	known	69_37n	nonsense	73	27.00	27	SNP	1.000	T
TYRP1	7306	genome.wustl.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-	rs387906562|rs369807922		TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													dbGAP											2	Deletion - Frameshift(2)	NS(1)|lung(1)	GRCh37	CD085016	TYRP1	D																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.N353fs	ENST00000388918.5	37	c.1054_1057	CCDS34990.1	9																																																																																			TYRP1	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre	ENSG00000107165		0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	224	0.00	0	ACAA	NM_000550		12702411	12702414	+1	no_errors	ENST00000388918	ensembl	human	known	69_37n	frame_shift_del	18	51.28	20	DEL	1.000:1.000:0.997:0.999	-
VIL1	7429	genome.wustl.edu	37	2	219295614	219295614	+	Intron	SNP	C	C	T	rs200310601		TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr2:219295614C>T	ENST00000248444.5	+	10	1190				VIL1_ENST00000440053.1_Missense_Mutation_p.A372V|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1						actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGGCCAGGCGGGGGCAGTG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17361	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													21.0	20.0	21.0					2																	219295614		2200	4300	6500	-	-	-	SO:0001627	intron_variant	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1102+13C>T	2.37:g.219295614C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.A372V	ENST00000248444.5	37	c.1115	CCDS2417.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.432	1.085724	0.20390	.	.	ENSG00000127831	ENST00000440053	T	0.20200	2.09	3.04	-0.405	0.12392	.	.	.	.	.	T	0.09423	0.0232	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35992	-0.9766	7	.	.	.	.	2.066	0.03603	0.2564:0.4102:0.0:0.3333	.	372	Q96AC8	.	V	372	ENSP00000409270:A372V	.	A	+	2	0	VIL1	219003858	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.980000	0.03770	0.041000	0.15688	0.462000	0.41574	GCG	VIL1	-	NULL	ENSG00000127831		0.627	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3	21	0.00	0	C	NM_007127		219295614	219295614	+1	no_errors	ENST00000440053	ensembl	human	putative	69_37n	missense	3	86.96	20	SNP	0.000	T
ZNF778	197320	genome.wustl.edu	37	16	89291996	89291996	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr16:89291996G>A	ENST00000433976.2	+	5	610	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	ZNF778_ENST00000306502.6_Missense_Mutation_p.R51Q|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCAGCACTTCGGCAGGATAGA	0.358																																						dbGAP											0													64.0	56.0	59.0					16																	89291996		1842	4088	5930	-	-	-	SO:0001583	missense	0			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.278G>A	16.37:g.89291996G>A	ENSP00000405289:p.Arg93Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R93Q	ENST00000433976.2	37	c.278	CCDS45550.1	16	.	.	.	.	.	.	.	.	.	.	G	0.162	-1.080491	0.01888	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.05139	3.52;3.49	1.12	-2.24	0.06909	Krueppel-associated box (3);	.	.	.	.	T	0.02610	0.0079	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	0.48269	-0.9050	9	0.12766	T	0.61	.	5.8874	0.18888	0.5067:0.0:0.4933:0.0	.	51;93	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	Q	93;51	ENSP00000405289:R93Q;ENSP00000305203:R51Q	ENSP00000305203:R51Q	R	+	2	0	ZNF778	87819497	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.937000	0.03942	-0.862000	0.04089	-0.261000	0.10672	CGG	ZNF778	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000170100		0.358	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	261	0.00	0	G	NM_182531		89291996	89291996	+1	no_errors	ENST00000433976	ensembl	human	known	69_37n	missense	197	25.10	66	SNP	0.004	A
ZPLD1	131368	genome.wustl.edu	37	3	102171957	102171957	+	Missense_Mutation	SNP	T	T	G			TCGA-AQ-A04H-01B-11D-A10M-09	TCGA-AQ-A04H-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	73c13e04-1400-4ebb-aa80-f54becbe036c	751944ed-705b-43b8-99fc-a49a6514941d	g.chr3:102171957T>G	ENST00000491959.1	+	10	1183	c.301T>G	c.(301-303)Ttg>Gtg	p.L101V	ZPLD1_ENST00000306176.1_Missense_Mutation_p.L117V|ZPLD1_ENST00000466937.1_Missense_Mutation_p.L101V			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	101	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TCTCAGCACCTTGGAGGGCTG	0.448																																						dbGAP											0													73.0	65.0	68.0					3																	102171957		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.301T>G	3.37:g.102171957T>G	ENSP00000420265:p.Leu101Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AS1|Q8WU36	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.L117V	ENST00000491959.1	37	c.349		3	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471078	0.63625	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.82344	-1.6;-1.6;-1.6	5.99	4.84	0.62591	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.88164	0.6363	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.71674	0.998;0.969	D;P	0.77557	0.99;0.772	D	0.85693	0.1308	10	0.27785	T	0.31	-1.25	11.8201	0.52235	0.0:0.0677:0.0:0.9323	.	117;101	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	V	101;117;101	ENSP00000420265:L101V;ENSP00000307801:L117V;ENSP00000418253:L101V	ENSP00000307801:L117V	L	+	1	2	ZPLD1	103654647	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.777000	0.47717	1.100000	0.41517	0.533000	0.62120	TTG	ZPLD1	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000170044		0.448	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	HGNC	protein_coding	OTTHUMT00000353984.1	117	0.00	0	T	NM_175056		102171957	102171957	+1	no_errors	ENST00000306176	ensembl	human	known	69_37n	missense	55	25.68	19	SNP	1.000	G
