#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADGB	79747	genome.wustl.edu	37	6	147047304	147047304	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr6:147047304G>A	ENST00000397944.3	+	19	2399	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	ADGB_ENST00000367493.3_Missense_Mutation_p.E194K	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	775					oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						CATTGGGGATGAACACGTTGT	0.433																																						dbGAP											0													209.0	170.0	182.0					6																	147047304		692	1591	2283	-	-	-	SO:0001583	missense	0			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.2323G>A	6.37:g.147047304G>A	ENSP00000381036:p.Glu775Lys		Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat	p.E775K	ENST00000397944.3	37	c.2323		6	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859963	0.71834	.	.	ENSG00000118492	ENST00000397944;ENST00000367493	T	0.35973	1.28	5.74	5.74	0.90152	.	.	.	.	.	T	0.52581	0.1743	M	0.68593	2.085	0.41086	D	0.985563	D	0.89917	1.0	D	0.77557	0.99	T	0.54695	-0.8255	9	0.87932	D	0	.	16.8324	0.85948	0.0:0.0:1.0:0.0	.	775	Q8N7X0	CAN7L_HUMAN	K	775;194	ENSP00000381036:E775K	ENSP00000356463:E194K	E	+	1	0	C6orf103	147088997	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	5.804000	0.69135	2.698000	0.92095	0.650000	0.86243	GAA	ADGB	-	NULL	ENSG00000118492		0.433	ADGB-009	KNOWN	basic|appris_principal	protein_coding	ADGB	HGNC	protein_coding	OTTHUMT00000376350.2	149	0.00	0	G	NM_024694		147047304	147047304	+1	no_errors	ENST00000397944	ensembl	human	known	69_37n	missense	225	17.28	47	SNP	1.000	A
ADPRHL1	113622	genome.wustl.edu	37	13	114088101	114088101	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr13:114088101delT	ENST00000375418.3	-	3	547	c.461delA	c.(460-462)gagfs	p.E154fs	ADPRHL1_ENST00000356501.4_Frame_Shift_Del_p.E72fs	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	154					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CACGCTGACCTCGATGAGGGT	0.657																																						dbGAP											0													32.0	26.0	28.0					13																	114088101		2197	4290	6487	-	-	-	SO:0001589	frameshift_variant	0			AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.461delA	13.37:g.114088101delT	ENSP00000364567:p.Glu154fs		Q5JUG2|Q96GD1	Frame_Shift_Del	DEL	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.E154fs	ENST00000375418.3	37	c.461	CCDS9535.1	13																																																																																			ADPRHL1	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	ENSG00000153531		0.657	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRHL1	HGNC	protein_coding	OTTHUMT00000045915.2	11	0.00	0	T	NM_138430		114088101	114088101	-1	no_errors	ENST00000375418	ensembl	human	known	69_37n	frame_shift_del	7	41.67	5	DEL	1.000	-
AP1G2	8906	genome.wustl.edu	37	14	24035597	24035597	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr14:24035597C>T	ENST00000308724.5	-	3	1116	c.361G>A	c.(361-363)Ggc>Agc	p.G121S	AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.G121S	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	121					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AAGGCCAGGCCTTGTACTGGC	0.567																																						dbGAP											0													69.0	68.0	69.0					14																	24035597		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.361G>A	14.37:g.24035597C>T	ENSP00000312442:p.Gly121Ser		D3DS51|O75504	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.G121S	ENST00000308724.5	37	c.361	CCDS9602.1	14	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743844	0.89663	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189;ENST00000556843	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.01	5.01	0.66863	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.162229	0.56097	D	0.000039	T	0.44664	0.1304	L	0.41415	1.275	0.80722	D	1	D	0.52996	0.957	D	0.63283	0.913	T	0.21381	-1.0247	10	0.46703	T	0.11	-12.356	15.8581	0.79000	0.0:1.0:0.0:0.0	.	121	O75843	AP1G2_HUMAN	S	121	ENSP00000312442:G121S;ENSP00000380309:G121S;ENSP00000452153:G121S;ENSP00000451504:G121S	ENSP00000312442:G121S	G	-	1	0	AP1G2	23105437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.270000	0.65547	2.595000	0.87683	0.561000	0.74099	GGC	AP1G2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu	ENSG00000213983		0.567	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	HGNC	protein_coding	OTTHUMT00000071812.4	180	0.00	0	C	NM_003917		24035597	24035597	-1	no_errors	ENST00000308724	ensembl	human	known	69_37n	missense	108	20.00	27	SNP	1.000	T
APBA1	320	genome.wustl.edu	37	9	72047583	72047584	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr9:72047583_72047584insA	ENST00000265381.4	-	12	2532_2533	c.2310_2311insT	c.(2308-2313)agcctcfs	p.L771fs		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	771	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CCTCGCATGAGGCTGCAGATCT	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2310_2311insT	9.37:g.72047583_72047584insA	ENSP00000265381:p.Leu771fs		O14914|O60570|Q5VYR8	Frame_Shift_Ins	INS	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.L770fs	ENST00000265381.4	37	c.2311_2310	CCDS6630.1	9																																																																																			APBA1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107282		0.594	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	139	0.00	0	-	NM_001163		72047583	72047584	-1	no_errors	ENST00000265381	ensembl	human	known	69_37n	frame_shift_ins	48	34.25	25	INS	1.000:1.000	A
APBA1	320	genome.wustl.edu	37	9	72047585	72047586	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr9:72047585_72047586insT	ENST00000265381.4	-	12	2530_2531	c.2308_2309insA	c.(2308-2310)agcfs	p.S770fs		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	770	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCGCATGAGGCTGCAGATCTGC	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2309dupA	9.37:g.72047586_72047586dupT	ENSP00000265381:p.Ser770fs		O14914|O60570|Q5VYR8	Frame_Shift_Ins	INS	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.S770fs	ENST00000265381.4	37	c.2309_2308	CCDS6630.1	9																																																																																			APBA1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107282		0.599	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	137	0.00	0	-	NM_001163		72047585	72047586	-1	no_errors	ENST00000265381	ensembl	human	known	69_37n	frame_shift_ins	41	37.88	25	INS	1.000:1.000	T
ARHGAP23	57636	genome.wustl.edu	37	17	36646353	36646353	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr17:36646353C>A	ENST00000431231.2	+	18	3065	c.2997C>A	c.(2995-2997)aaC>aaA	p.N999K	ARHGAP23_ENST00000437668.3_Missense_Mutation_p.N999K|ARHGAP23_ENST00000443378.1_Missense_Mutation_p.N905K	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	999	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						ACAAATACAACGACTTCATCG	0.597																																						dbGAP											0													51.0	44.0	46.0					17																	36646353		692	1591	2283	-	-	-	SO:0001583	missense	0			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.2997C>A	17.37:g.36646353C>A	ENSP00000393539:p.Asn999Lys			Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.N999K	ENST00000431231.2	37	c.2997	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	c	9.477	1.097074	0.20552	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.11277	2.79;2.79;2.79	4.63	-8.83	0.00806	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.050601	0.85682	D	0.000000	T	0.10852	0.0265	L	0.34521	1.04	0.22620	N	0.998923	P;D	0.67145	0.479;0.996	P;P	0.58620	0.571;0.842	T	0.25572	-1.0128	10	0.07030	T	0.85	.	15.9714	0.80024	0.0:0.2977:0.0:0.7023	.	999;999	Q9P227;Q9P227-2	RHG23_HUMAN;.	K	999;999;905	ENSP00000394153:N999K;ENSP00000393539:N999K;ENSP00000407333:N905K	ENSP00000393539:N999K	N	+	3	2	ARHGAP23	33899879	0.000000	0.05858	0.734000	0.30879	0.987000	0.75469	-4.562000	0.00215	-1.652000	0.01502	-0.232000	0.12228	AAC	ARHGAP23	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000225485		0.597	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	82	0.00	0	C	XM_290799		36646353	36646353	+1	no_errors	ENST00000431231	ensembl	human	known	69_37n	missense	38	19.15	9	SNP	0.031	A
ATHL1	80162	genome.wustl.edu	37	11	289844	289844	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr11:289844A>C	ENST00000409548.2	+	2	143	c.28A>C	c.(28-30)Acg>Ccg	p.T10P	RP11-326C3.2_ENST00000534742.1_RNA|ATHL1_ENST00000409655.1_Intron|RP11-326C3.2_ENST00000533924.1_RNA|RP11-326C3.2_ENST00000525217.1_RNA|ATHL1_ENST00000409479.1_Missense_Mutation_p.T10P	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	10					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGACCCCACCACGTTTGCTGC	0.667																																						dbGAP											0													77.0	81.0	80.0					11																	289844		692	1591	2283	-	-	-	SO:0001583	missense	0			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.28A>C	11.37:g.289844A>C	ENSP00000387185:p.Thr10Pro		Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.T10P	ENST00000409548.2	37	c.28	CCDS31322.2	11	.	.	.	.	.	.	.	.	.	.	A	14.98	2.698178	0.48307	.	.	ENSG00000142102	ENST00000409548;ENST00000409479	.	.	.	4.66	-7.24	0.01475	.	.	.	.	.	T	0.20088	0.0483	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.09377	0.002;0.004	T	0.24297	-1.0164	8	0.33940	T	0.23	.	12.8906	0.58069	0.1248:0.1199:0.7553:0.0	.	10;10	Q32M88;E7EMA9	ATHL1_HUMAN;.	P	10	.	ENSP00000387099:T10P	T	+	1	0	ATHL1	279844	0.642000	0.27260	0.000000	0.03702	0.012000	0.07955	1.080000	0.30779	-1.737000	0.01350	-0.415000	0.06103	ACG	ATHL1	-	NULL	ENSG00000142102		0.667	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	21	0.00	0	A	NM_025092		289844	289844	+1	no_errors	ENST00000409548	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	0.000	C
BANP	54971	genome.wustl.edu	37	16	88066806	88066806	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr16:88066806delG	ENST00000393207.1	+	9	1352	c.1131delG	c.(1129-1131)cagfs	p.Q378fs	BANP_ENST00000286122.7_Frame_Shift_Del_p.Q378fs|BANP_ENST00000538234.1_Frame_Shift_Del_p.Q386fs|BANP_ENST00000393208.2_Frame_Shift_Del_p.Q347fs|BANP_ENST00000355022.4_Frame_Shift_Del_p.Q347fs|BANP_ENST00000355163.5_Frame_Shift_Del_p.Q353fs|BANP_ENST00000479780.2_Frame_Shift_Del_p.Q347fs	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	378	DNA-binding. {ECO:0000250}.|Gln-rich.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCAACGCACAGCAGGTGCAGA	0.667																																						dbGAP											0													37.0	30.0	32.0					16																	88066806		2197	4300	6497	-	-	-	SO:0001589	frameshift_variant	0			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1131delG	16.37:g.88066806delG	ENSP00000376902:p.Gln378fs		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Frame_Shift_Del	DEL	pfam_BEN_domain	p.Q377fs	ENST00000393207.1	37	c.1131	CCDS54054.1	16																																																																																			BANP	-	NULL	ENSG00000172530		0.667	BANP-002	KNOWN	basic|CCDS	protein_coding	BANP	HGNC	protein_coding	OTTHUMT00000269166.1	47	0.00	0	G	NM_017869		88066806	88066806	+1	no_errors	ENST00000286122	ensembl	human	known	69_37n	frame_shift_del	39	39.39	26	DEL	1.000	-
BDKRB2	624	genome.wustl.edu	37	14	96707798	96707798	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr14:96707798G>T	ENST00000306005.3	+	3	1329	c.1133G>T	c.(1132-1134)cGc>cTc	p.R378L	BDKRB2_ENST00000539359.1_Missense_Mutation_p.R351L|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R378L|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000542454.2_Missense_Mutation_p.R351L	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	378					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	TCCGTGGAACGCCAGATTCAC	0.557																																						dbGAP											0													44.0	47.0	46.0					14																	96707798		2203	4300	6503	-	-	-	SO:0001583	missense	0			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.1133G>T	14.37:g.96707798G>T	ENSP00000307713:p.Arg378Leu			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_B2_bradkn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt	p.R378L	ENST00000306005.3	37	c.1133	CCDS9942.1	14	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381173	0.24944	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	4.68	2.7	0.31948	.	0.803692	0.11174	N	0.591667	T	0.56411	0.1983	L	0.60455	1.87	0.09310	N	1	P	0.36483	0.555	B	0.26614	0.071	T	0.57447	-0.7810	10	0.59425	D	0.04	-27.5721	0.6512	0.00827	0.2444:0.1877:0.3751:0.1928	.	378	P30411	BKRB2_HUMAN	L	351;378;378;351	ENSP00000439459:R351L;ENSP00000450482:R378L;ENSP00000307713:R378L;ENSP00000438376:R351L	ENSP00000307713:R378L	R	+	2	0	BDKRB2	95777551	0.004000	0.15560	0.389000	0.26208	0.795000	0.44927	1.261000	0.32980	0.962000	0.38057	0.491000	0.48974	CGC	BDKRB2	-	prints_B2_bradkn_rcpt	ENSG00000168398		0.557	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB2	HGNC	protein_coding	OTTHUMT00000413294.1	75	0.00	0	G			96707798	96707798	+1	no_errors	ENST00000306005	ensembl	human	known	69_37n	missense	41	31.15	19	SNP	0.001	T
ENKD1	84080	genome.wustl.edu	37	16	67697662	67697663	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr16:67697662_67697663insG	ENST00000243878.4	-	5	961_962	c.640_641insC	c.(640-642)cggfs	p.R214fs	ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602644.1_Intron|ENKD1_ENST00000602409.1_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	214						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											GGAATGCCTCCGGGGGGCTCTC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.641dupC	16.37:g.67697668_67697668dupG	ENSP00000243878:p.Arg214fs		Q6UWD7	Frame_Shift_Ins	INS	NULL	p.R214fs	ENST00000243878.4	37	c.641_640	CCDS10844.1	16																																																																																			C16orf48	-	NULL	ENSG00000124074		0.624	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf48	HGNC	protein_coding	OTTHUMT00000268884.1	35	0.00	0	-	NM_032140		67697662	67697663	-1	no_errors	ENST00000243878	ensembl	human	known	69_37n	frame_shift_ins	27	10.00	3	INS	1.000:1.000	G
C1orf50	79078	genome.wustl.edu	37	1	43232996	43232996	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr1:43232996C>T	ENST00000372525.5	+	1	57	c.14C>T	c.(13-15)gCc>gTc	p.A5V	C1orf50_ENST00000536543.1_5'UTR|LEPRE1_ENST00000236040.4_5'Flank|LEPRE1_ENST00000397054.3_5'Flank|LEPRE1_ENST00000296388.5_5'Flank	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	5										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGGACGCCGCCGCGCCGGGG	0.687																																						dbGAP											0													5.0	8.0	7.0					1																	43232996		2053	4111	6164	-	-	-	SO:0001583	missense	0			BC001711	CCDS473.1	1p34.2	2012-06-25			ENSG00000164008	ENSG00000164008			28795	protein-coding gene	gene with protein product						12477932	Standard	NM_024097		Approved	MGC955	uc001cia.4	Q9BV19	OTTHUMG00000007568	ENST00000372525.5:c.14C>T	1.37:g.43232996C>T	ENSP00000361603:p.Ala5Val			Missense_Mutation	SNP	pfam_DUF2452,superfamily_Cytidine_deaminase-like	p.A5V	ENST00000372525.5	37	c.14	CCDS473.1	1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205996	0.39003	.	.	ENSG00000164008	ENST00000372525	T	0.46819	0.86	4.79	-3.74	0.04385	.	1.241480	0.05891	N	0.628297	T	0.30262	0.0759	L	0.40543	1.245	0.20873	N	0.999838	B	0.02656	0.0	B	0.04013	0.001	T	0.14559	-1.0468	9	0.26408	T	0.33	.	0.4019	0.00427	0.2554:0.2811:0.1327:0.3308	.	5	Q9BV19	CA050_HUMAN	V	5	ENSP00000361603:A5V	ENSP00000361603:A5V	A	+	2	0	C1orf50	43005583	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.658000	0.05329	-0.849000	0.04158	0.655000	0.94253	GCC	C1orf50	-	NULL	ENSG00000164008		0.687	C1orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf50	HGNC	protein_coding	OTTHUMT00000020001.2	35	0.00	0	C	NM_024097		43232996	43232996	+1	no_errors	ENST00000372525	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.000	T
CALCRL	10203	genome.wustl.edu	37	2	188211077	188211077	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr2:188211077C>G	ENST00000409998.1	-	16	2001	c.1220G>C	c.(1219-1221)gGa>gCa	p.G407A	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.G407A|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.G407A			Q16602	CALRL_HUMAN	calcitonin receptor-like	407					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AAAGCTGTTTCCAAATTGGAT	0.378																																						dbGAP											0													115.0	107.0	110.0					2																	188211077		2203	4299	6502	-	-	-	SO:0001583	missense	0			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.1220G>C	2.37:g.188211077C>G	ENSP00000386972:p.Gly407Ala		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.G407A	ENST00000409998.1	37	c.1220	CCDS2293.1	2	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712766	0.48517	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.36878	1.23;1.23;1.23	5.4	5.4	0.78164	.	0.098661	0.43260	D	0.000585	T	0.32041	0.0816	L	0.55481	1.735	0.53688	D	0.99997	B	0.17268	0.021	B	0.18871	0.023	T	0.07790	-1.0754	10	0.15952	T	0.53	.	11.906	0.52713	0.0:0.9112:0.0:0.0887	.	407	Q16602	CALRL_HUMAN	A	407	ENSP00000376177:G407A;ENSP00000386972:G407A;ENSP00000387190:G407A	ENSP00000376177:G407A	G	-	2	0	CALCRL	187919322	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.507000	0.60434	2.673000	0.90976	0.655000	0.94253	GGA	CALCRL	-	prints_GPCR_2_CGRP1_rcpt	ENSG00000064989		0.378	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALCRL	HGNC	protein_coding	OTTHUMT00000334648.1	148	0.00	0	C	NM_005795		188211077	188211077	-1	no_errors	ENST00000392370	ensembl	human	known	69_37n	missense	97	31.21	44	SNP	1.000	G
CALU	813	genome.wustl.edu	37	7	128388708	128388708	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr7:128388708A>G	ENST00000249364.4	+	2	173	c.71A>G	c.(70-72)aAg>aGg	p.K24R	CALU_ENST00000535623.1_Missense_Mutation_p.K32R|CALU_ENST00000479257.1_Missense_Mutation_p.K32R|CALU_ENST00000538546.1_Intron|CALU_ENST00000449187.2_Missense_Mutation_p.K24R|CALU_ENST00000535011.2_Missense_Mutation_p.K24R|CALU_ENST00000542996.2_Missense_Mutation_p.K32R	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	24					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						CCCACAGAAAAGAAGGACCGT	0.448																																						dbGAP											0													125.0	117.0	120.0					7																	128388708		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.71A>G	7.37:g.128388708A>G	ENSP00000249364:p.Lys24Arg		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K32R	ENST00000249364.4	37	c.95	CCDS5805.1	7	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094585	0.36952	.	.	ENSG00000128595	ENST00000542996;ENST00000535623;ENST00000538394;ENST00000537667;ENST00000535011;ENST00000537014;ENST00000249364;ENST00000449187;ENST00000342367;ENST00000479257	T;T;T;T;T;T	0.62788	2.65;0.0;2.41;2.66;2.67;2.65	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.43598	1.365	0.80722	D	1	B;B	0.30542	0.284;0.002	B;B	0.25291	0.059;0.004	T	0.48917	-0.8992	10	0.17832	T	0.49	-11.668	14.3392	0.66614	1.0:0.0:0.0:0.0	.	32;24	D6QS48;O43852	.;CALU_HUMAN	R	32;32;24;24;24;24;24;24;24;32	ENSP00000438248:K32R;ENSP00000439139:K32R;ENSP00000442110:K24R;ENSP00000249364:K24R;ENSP00000408838:K24R;ENSP00000420381:K32R	ENSP00000249364:K24R	K	+	2	0	CALU	128175944	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.211000	0.58507	2.270000	0.75569	0.482000	0.46254	AAG	CALU	-	NULL	ENSG00000128595		0.448	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALU	HGNC	protein_coding	OTTHUMT00000350533.1	95	0.00	0	A	NM_001219		128388708	128388708	+1	no_errors	ENST00000542996	ensembl	human	known	69_37n	missense	60	31.03	27	SNP	1.000	G
CAMSAP1	157922	genome.wustl.edu	37	9	138710894	138710894	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr9:138710894C>A	ENST00000389532.4	-	12	3985	c.3921G>T	c.(3919-3921)caG>caT	p.Q1307H	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.Q1029H|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.Q1318H	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1307					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCGCTTCCAGCTGCTGCTTGC	0.672																																						dbGAP											0													27.0	28.0	28.0					9																	138710894		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3921G>T	9.37:g.138710894C>A	ENSP00000374183:p.Gln1307His		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.Q1318H	ENST00000389532.4	37	c.3954	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623741	0.46840	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.17528	2.27;2.29;2.27	4.51	2.63	0.31362	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.84433	2.695	0.51482	D	0.999928	D;P	0.89917	1.0;0.819	D;P	0.85130	0.997;0.464	T	0.37753	-0.9692	10	0.87932	D	0	.	8.7833	0.34804	0.0:0.754:0.0:0.246	.	1307;1318	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	H	1307;1029;1318	ENSP00000374183:Q1307H;ENSP00000312463:Q1029H;ENSP00000386420:Q1318H	ENSP00000312463:Q1029H	Q	-	3	2	CAMSAP1	137850715	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	1.150000	0.31639	1.012000	0.39366	0.561000	0.74099	CAG	CAMSAP1	-	NULL	ENSG00000130559		0.672	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	36	0.00	0	C	XM_351857		138710894	138710894	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	1.000	A
CCNO	10309	genome.wustl.edu	37	5	54528374	54528374	+	Splice_Site	DEL	C	C	-			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr5:54528374delC	ENST00000282572.4	-	2	538	c.382delG	c.(382-384)gtg>tg	p.V128fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	128					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			TCCGCCGTCACCTGCCGGGAA	0.647																																						dbGAP											0													28.0	27.0	27.0					5																	54528374		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"""cyclin U"""	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.382-1G>-	5.37:g.54528374delC			A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Frame_Shift_Del	DEL	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.V128fs	ENST00000282572.4	37	c.382	CCDS34157.1	5																																																																																			CCNO	-	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000152669		0.647	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNO	HGNC	protein_coding	OTTHUMT00000369707.1	16	0.00	0	C	NM_021147	Frame_Shift_Del	54528374	54528374	-1	no_errors	ENST00000282572	ensembl	human	known	69_37n	frame_shift_del	9	40.00	6	DEL	1.000	-
CEP164	22897	genome.wustl.edu	37	11	117252486	117252487	+	Frame_Shift_Ins	INS	-	-	C	rs114396665	byFrequency	TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr11:117252486_117252487insC	ENST00000278935.3	+	13	1626_1627	c.1479_1480insC	c.(1480-1482)cctfs	p.P494fs	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	494	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.P495fs*43(2)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTGAAGAAGAGCCTCCCCAGGG	0.668																																						dbGAP											2	Insertion - Frameshift(2)	breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1481dupC	11.37:g.117252488_117252488dupC	ENSP00000278935:p.Pro494fs		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Frame_Shift_Ins	INS	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.P494fs	ENST00000278935.3	37	c.1479_1480	CCDS31683.1	11																																																																																			CEP164	-	NULL	ENSG00000110274		0.668	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	57	0.00	0	-	NM_014956		117252486	117252487	+1	no_errors	ENST00000278935	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.299:0.293	C
CPXCR1	53336	genome.wustl.edu	37	X	88008777	88008777	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chrX:88008777C>T	ENST00000276127.4	+	3	621	c.362C>T	c.(361-363)gCa>gTa	p.A121V	CPXCR1_ENST00000373111.1_Missense_Mutation_p.A121V	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	121							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GAGATGAAAGCAAACAATTTC	0.393																																						dbGAP											0													52.0	46.0	48.0					X																	88008777		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.362C>T	X.37:g.88008777C>T	ENSP00000276127:p.Ala121Val		B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.A121V	ENST00000276127.4	37	c.362	CCDS14458.1	X	.	.	.	.	.	.	.	.	.	.	C	0.855	-0.737265	0.03111	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.46451	0.87;0.87	3.06	-3.54	0.04653	.	2.132850	0.02743	N	0.116490	T	0.20414	0.0491	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.04053	-1.0981	9	.	.	.	1.1743	0.0857	0.00035	0.3222:0.2145:0.1599:0.3035	.	121	Q8N123	CPXCR_HUMAN	V	121	ENSP00000276127:A121V;ENSP00000362203:A121V	.	A	+	2	0	CPXCR1	87895433	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.778000	0.04664	-1.134000	0.02899	0.594000	0.82650	GCA	CPXCR1	-	NULL	ENSG00000147183		0.393	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	HGNC	protein_coding	OTTHUMT00000057418.1	110	0.00	0	C	NM_033048		88008777	88008777	+1	no_errors	ENST00000276127	ensembl	human	known	69_37n	missense	107	23.02	32	SNP	0.000	T
CSMD2	114784	genome.wustl.edu	37	1	34011643	34011644	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr1:34011643_34011644insTG	ENST00000373381.4	-	57	9269_9270	c.9093_9094insCA	c.(9091-9096)gagtgtfs	p.C3032fs		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3007	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTACCTCCACACTCAGGCTGCG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9093_9094insCA	1.37:g.34011643_34011644insTG	ENSP00000362479:p.Cys3032fs		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Frame_Shift_Ins	INS	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.C3031fs	ENST00000373381.4	37	c.9094_9093		1																																																																																			CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.609	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		62	0.00	0	-	NM_052896		34011643	34011644	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	frame_shift_ins	39	55.17	48	INS	1.000:1.000	TG
CSMD2	114784	genome.wustl.edu	37	1	34011645	34011646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr1:34011645_34011646insC	ENST00000373381.4	-	57	9267_9268	c.9091_9092insG	c.(9091-9093)gagfs	p.E3031fs		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3006	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTCCACACTCAGGCTGCGAG	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9092dupG	1.37:g.34011646_34011646dupC	ENSP00000362479:p.Glu3031fs		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Frame_Shift_Ins	INS	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.E3031fs	ENST00000373381.4	37	c.9092_9091		1																																																																																			CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.614	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		65	0.00	0	-	NM_052896		34011645	34011646	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	frame_shift_ins	38	56.32	49	INS	1.000:1.000	C
DVL1	1855	genome.wustl.edu	37	1	1275142	1275142	+	Silent	SNP	C	C	A			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr1:1275142C>A	ENST00000378888.5	-	9	1244	c.960G>T	c.(958-960)gtG>gtT	p.V320V	DVL1_ENST00000378891.5_Silent_p.V320V			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	320	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCTCCCGCAGCACCCGCACGG	0.642																																						dbGAP											0													76.0	72.0	73.0					1																	1275142		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.960G>T	1.37:g.1275142C>A			Q5TA33|Q5TA35	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_1,prints_Dishevelled	p.V320	ENST00000378888.5	37	c.960		1																																																																																			DVL1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107404		0.642	DVL1-004	KNOWN	basic|appris_principal	protein_coding	DVL1	HGNC	protein_coding	OTTHUMT00000008490.1	18	0.00	0	C	NM_004421		1275142	1275142	-1	no_errors	ENST00000378888	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	1.000	A
DYNC1LI2	1783	genome.wustl.edu	37	16	66766320	66766320	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr16:66766320T>C	ENST00000258198.2	-	7	1057	c.851A>G	c.(850-852)tAt>tGt	p.Y284C	DYNC1LI2_ENST00000570201.1_5'Flank|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.Y245C|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.Y207C|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	284					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		AATATACTTATACAACAAGTC	0.388																																						dbGAP											0													126.0	120.0	122.0					16																	66766320		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.851A>G	16.37:g.66766320T>C	ENSP00000258198:p.Tyr284Cys		A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	pfam_Dynein_light_int_chain	p.Y284C	ENST00000258198.2	37	c.851	CCDS10818.1	16	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865240	0.71949	.	.	ENSG00000135720	ENST00000258198;ENST00000443351;ENST00000440564	T;T;T	0.23950	1.88;1.88;1.88	5.31	4.21	0.49690	.	0.162599	0.56097	D	0.000025	T	0.49932	0.1586	M	0.82823	2.61	0.80722	D	1	D;D;D;P	0.67145	0.995;0.984;0.996;0.902	P;D;P;P	0.64237	0.879;0.923;0.905;0.877	T	0.55648	-0.8108	10	0.87932	D	0	-17.8083	11.6629	0.51358	0.1329:0.0:0.0:0.867	.	245;284;207;284	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	C	284;207;245	ENSP00000258198:Y284C;ENSP00000394289:Y207C;ENSP00000408566:Y245C	ENSP00000258198:Y284C	Y	-	2	0	DYNC1LI2	65323821	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.039000	0.70972	1.013000	0.39391	-0.490000	0.04691	TAT	DYNC1LI2	-	pfam_Dynein_light_int_chain	ENSG00000135720		0.388	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	HGNC	protein_coding	OTTHUMT00000268846.1	138	0.72	1	T	NM_006141		66766320	66766320	-1	no_errors	ENST00000258198	ensembl	human	known	69_37n	missense	89	25.83	31	SNP	1.000	C
EGR3	1960	genome.wustl.edu	37	8	22548865	22548865	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr8:22548865delG	ENST00000317216.2	-	2	642	c.285delC	c.(283-285)tccfs	p.S95fs	EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Frame_Shift_Del_p.S57fs|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	95					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GGCACCAGTTGGAAGGGGAGT	0.627																																						dbGAP											0													63.0	66.0	65.0					8																	22548865		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.285delC	8.37:g.22548865delG	ENSP00000318057:p.Ser95fs		A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Frame_Shift_Del	DEL	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N96fs	ENST00000317216.2	37	c.285	CCDS6033.1	8																																																																																			EGR3	-	pfam_DUF3446	ENSG00000179388		0.627	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR3	HGNC	protein_coding	OTTHUMT00000215098.1	32	0.00	0	G	NM_004430		22548865	22548865	-1	no_errors	ENST00000317216	ensembl	human	known	69_37n	frame_shift_del	8	52.63	10	DEL	1.000	-
ENPP2	5168	genome.wustl.edu	37	8	120594788	120594788	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr8:120594788T>C	ENST00000075322.6	-	18	1656	c.1598A>G	c.(1597-1599)cAt>cGt	p.H533R	ENPP2_ENST00000522167.1_Missense_Mutation_p.H172R|ENPP2_ENST00000522826.1_Missense_Mutation_p.H533R|ENPP2_ENST00000427067.2_Missense_Mutation_p.H529R|ENPP2_ENST00000259486.6_Missense_Mutation_p.H585R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	533					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCGCAGGAGATGATTCAAACT	0.433																																					Melanoma(20;305 879 2501 4818 31020)	dbGAP											0													182.0	180.0	180.0					8																	120594788		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1598A>G	8.37:g.120594788T>C	ENSP00000075322:p.His533Arg		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.H585R	ENST00000075322.6	37	c.1754	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	T	19.28	3.796534	0.70567	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.76060	-0.77;-0.75;-0.99;-0.75;-0.76	6.08	6.08	0.98989	.	0.043815	0.85682	D	0.000000	T	0.80486	0.4632	M	0.69523	2.12	0.80722	D	1	P;P;P;P;P	0.49783	0.889;0.695;0.928;0.887;0.818	P;B;B;P;B	0.49561	0.615;0.325;0.126;0.524;0.126	T	0.82999	-0.0178	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	50;533;533;585;172	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	R	585;529;172;533;533	ENSP00000259486:H585R;ENSP00000403315:H529R;ENSP00000429476:H172R;ENSP00000428291:H533R;ENSP00000075322:H533R	ENSP00000075322:H533R	H	-	2	0	ENPP2	120663969	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.673000	0.83973	2.333000	0.79357	0.533000	0.62120	CAT	ENPP2	-	NULL	ENSG00000136960		0.433	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	143	0.00	0	T			120594788	120594788	-1	no_errors	ENST00000259486	ensembl	human	known	69_37n	missense	144	18.18	32	SNP	1.000	C
GALNT6	11226	genome.wustl.edu	37	12	51751160	51751160	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr12:51751160delG	ENST00000543196.2	-	9	1780	c.1575delC	c.(1573-1575)tacfs	p.Y525fs	GALNT6_ENST00000356317.3_Frame_Shift_Del_p.Y525fs			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	525	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGTGGCAGGAGTACATGATGA	0.587																																						dbGAP											0													97.0	81.0	87.0					12																	51751160		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1575delC	12.37:g.51751160delG	ENSP00000444171:p.Tyr525fs		Q8IYH4|Q9H6G2|Q9UIV5	Frame_Shift_Del	DEL	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S526fs	ENST00000543196.2	37	c.1575	CCDS8813.1	12																																																																																			GALNT6	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000139629		0.587	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT6	HGNC	protein_coding	OTTHUMT00000469735.1	113	0.00	0	G	NM_007210		51751160	51751160	-1	no_errors	ENST00000356317	ensembl	human	known	69_37n	frame_shift_del	56	41.24	40	DEL	0.082	-
GALNT6	11226	genome.wustl.edu	37	12	51751164	51751164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr12:51751164delA	ENST00000543196.2	-	9	1776	c.1571delT	c.(1570-1572)atgfs	p.M524fs	GALNT6_ENST00000356317.3_Frame_Shift_Del_p.M524fs			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	524	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCAGGAGTACATGATGAGGGG	0.592																																						dbGAP											0													98.0	82.0	87.0					12																	51751164		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1571delT	12.37:g.51751164delA	ENSP00000444171:p.Met524fs		Q8IYH4|Q9H6G2|Q9UIV5	Frame_Shift_Del	DEL	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.M524fs	ENST00000543196.2	37	c.1571	CCDS8813.1	12																																																																																			GALNT6	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000139629		0.592	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT6	HGNC	protein_coding	OTTHUMT00000469735.1	118	0.00	0	A	NM_007210		51751164	51751164	-1	no_errors	ENST00000356317	ensembl	human	known	69_37n	frame_shift_del	55	42.00	42	DEL	1.000	-
HEPACAM2	253012	genome.wustl.edu	37	7	92844993	92844994	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr7:92844993_92844994insT	ENST00000394468.2	-	3	512_513	c.435_436insA	c.(433-438)cctgtcfs	p.V146fs	HEPACAM2_ENST00000453812.2_Frame_Shift_Ins_p.V169fs|HEPACAM2_ENST00000440868.1_Frame_Shift_Ins_p.V134fs|HEPACAM2_ENST00000341723.4_Frame_Shift_Ins_p.V134fs	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	146					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGCTTTGTGACAGGATCTGCAA	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.435_436insA	7.37:g.92844993_92844994insT	ENSP00000377980:p.Val146fs		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V145fs	ENST00000394468.2	37	c.436_435	CCDS43616.1	7																																																																																			HEPACAM2	-	NULL	ENSG00000188175		0.436	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPACAM2	HGNC	protein_coding	OTTHUMT00000254651.1	142	0.00	0	-	NM_198151		92844993	92844994	-1	no_errors	ENST00000394468	ensembl	human	known	69_37n	frame_shift_ins	204	11.30	26	INS	1.000:0.997	T
HRH1	3269	genome.wustl.edu	37	3	11301157	11301157	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr3:11301157C>T	ENST00000397056.1	+	3	625	c.434C>T	c.(433-435)tCg>tTg	p.S145L	HRH1_ENST00000438284.2_Missense_Mutation_p.S145L|HRH1_ENST00000431010.2_Missense_Mutation_p.S145L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	145					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACCCGAGCCTCGGCCACCATT	0.547																																						dbGAP											0													84.0	89.0	87.0					3																	11301157		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.434C>T	3.37:g.11301157C>T	ENSP00000380247:p.Ser145Leu		A8K047|Q6P9E5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H1_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.S145L	ENST00000397056.1	37	c.434	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476864	0.63849	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.34472	1.36;1.36;1.36	5.87	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.272180	0.35615	N	0.003088	T	0.31606	0.0802	N	0.12853	0.265	0.09310	N	1	D	0.89917	1.0	D	0.65010	0.931	T	0.26916	-1.0089	10	0.10636	T	0.68	-1.8799	9.9345	0.41543	0.0:0.7307:0.0:0.2693	.	145	P35367	HRH1_HUMAN	L	145	ENSP00000406705:S145L;ENSP00000397028:S145L;ENSP00000380247:S145L	ENSP00000380247:S145L	S	+	2	0	HRH1	11276157	0.000000	0.05858	0.000000	0.03702	0.982000	0.71751	0.922000	0.28734	0.120000	0.18254	0.655000	0.94253	TCG	HRH1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196639		0.547	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2	78	0.00	0	C			11301157	11301157	+1	no_errors	ENST00000397056	ensembl	human	known	69_37n	missense	42	24.56	14	SNP	0.001	T
IPO8	10526	genome.wustl.edu	37	12	30822138	30822138	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr12:30822138C>G	ENST00000256079.4	-	10	1461	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	IPO8_ENST00000544829.1_Missense_Mutation_p.E170Q	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	375					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTATATACTCATATGGATCT	0.274																																						dbGAP											0													103.0	101.0	102.0					12																	30822138		2203	4298	6501	-	-	-	SO:0001583	missense	0			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1123G>C	12.37:g.30822138C>G	ENSP00000256079:p.Glu375Gln		B7Z7M3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E375Q	ENST00000256079.4	37	c.1123	CCDS8719.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740835	0.89573	.	.	ENSG00000133704	ENST00000256079;ENST00000544829	T;T	0.75154	-0.91;-0.91	4.3	4.3	0.51218	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.049763	0.85682	D	0.000000	D	0.87771	0.6261	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.90406	0.4406	10	0.87932	D	0	-20.7448	17.2872	0.87145	0.0:1.0:0.0:0.0	.	170;375	B7Z7M3;O15397	.;IPO8_HUMAN	Q	375;170	ENSP00000256079:E375Q;ENSP00000444520:E170Q	ENSP00000256079:E375Q	E	-	1	0	IPO8	30713405	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.346000	0.79347	2.357000	0.79964	0.650000	0.86243	GAG	IPO8	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold	ENSG00000133704		0.274	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO8	HGNC	protein_coding	OTTHUMT00000402700.2	163	0.00	0	C	NM_006390		30822138	30822138	-1	no_errors	ENST00000256079	ensembl	human	known	69_37n	missense	128	46.91	114	SNP	1.000	G
KIAA0232	9778	genome.wustl.edu	37	4	6863013	6863013	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr4:6863013delA	ENST00000307659.5	+	7	1359	c.904delA	c.(904-906)aatfs	p.N302fs	KIAA0232_ENST00000425103.1_Frame_Shift_Del_p.N302fs	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	302							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTCCAGTGGGAATCAGGGAGA	0.458																																						dbGAP											0													57.0	57.0	57.0					4																	6863013		1944	4133	6077	-	-	-	SO:0001589	frameshift_variant	0			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.904delA	4.37:g.6863013delA	ENSP00000303928:p.Asn302fs		A7E2D2	Frame_Shift_Del	DEL	NULL	p.N302fs	ENST00000307659.5	37	c.904	CCDS43209.1	4																																																																																			KIAA0232	-	NULL	ENSG00000170871		0.458	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	54	0.00	0	A	NM_014743		6863013	6863013	+1	no_errors	ENST00000307659	ensembl	human	known	69_37n	frame_shift_del	46	11.54	6	DEL	0.896	-
LDB2	9079	genome.wustl.edu	37	4	16597371	16597371	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr4:16597371G>T	ENST00000304523.5	-	3	686	c.363C>A	c.(361-363)gaC>gaA	p.D121E	LDB2_ENST00000502640.1_Missense_Mutation_p.D121E|LDB2_ENST00000515064.1_Missense_Mutation_p.D121E|LDB2_ENST00000441778.2_Missense_Mutation_p.D121E|LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000503829.1_5'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	121					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGGTACACTGGTCGCAGTCCA	0.502																																						dbGAP											0													172.0	140.0	150.0					4																	16597371		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.363C>A	4.37:g.16597371G>T	ENSP00000306772:p.Asp121Glu		O60619|O75480	Missense_Mutation	SNP	NULL	p.D121E	ENST00000304523.5	37	c.363	CCDS3420.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.40|11.40	1.627923|1.627923	0.28978|0.28978	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732|ENST00000507464	.|.	.|.	.|.	5.6|5.6	4.53|4.53	0.55603|0.55603	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40645|0.40645	0.1125|0.1125	N|N	0.26042|0.26042	0.785|0.785	0.80722|0.80722	D|D	1|1	D;B;B;B;P|.	0.63046|.	0.992;0.181;0.028;0.027;0.844|.	D;B;B;B;P|.	0.74348|.	0.983;0.163;0.02;0.035;0.791|.	T|T	0.21245|0.21245	-1.0251|-1.0251	9|5	0.11485|.	T|.	0.65|.	-27.2343|-27.2343	4.7021|4.7021	0.12832|0.12832	0.2699:0.0:0.7301:0.0|0.2699:0.0:0.7301:0.0	.|.	87;121;121;121;121|.	B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679|.	.;.;.;.;LDB2_HUMAN|.	E|N	121;121;121;121;97|43	.|.	ENSP00000306772:D121E|.	D|T	-|-	3|2	2|0	LDB2|LDB2	16206469|16206469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.492000|3.492000	0.53259|0.53259	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GAC|ACC	LDB2	-	NULL	ENSG00000169744		0.502	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	HGNC	protein_coding	OTTHUMT00000250321.2	153	0.00	0	G			16597371	16597371	-1	no_errors	ENST00000304523	ensembl	human	known	69_37n	missense	69	31.68	32	SNP	1.000	T
MRPL24	79590	genome.wustl.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs		D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24	p.H18fs	ENST00000361531.2	37	c.53_52	CCDS1155.1	1																																																																																			MRPL24	-	NULL	ENSG00000143314		0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL24	HGNC	protein_coding	OTTHUMT00000098955.1	54	0.00	0	-	NM_145729		156708444	156708445	-1	no_errors	ENST00000361531	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	0.438:0.034	G
NBPF14	25832	genome.wustl.edu	37	1	148017589	148017589	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr1:148017589G>A	ENST00000369219.1	-	6	710	c.694C>T	c.(694-696)Cct>Tct	p.P232S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	232	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AACATTTCAGGAGGAATTGAG	0.502																																						dbGAP											0													43.0	47.0	46.0					1																	148017589		1501	2697	4198	-	-	-	SO:0001583	missense	0			AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.694C>T	1.37:g.148017589G>A	ENSP00000358221:p.Pro232Ser		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.P232S	ENST00000369219.1	37	c.694		1	.	.	.	.	.	.	.	.	.	.	g	3.184	-0.167260	0.06461	.	.	ENSG00000122497	ENST00000369219	T	0.06849	3.25	.	.	.	DUF1220 (2);	.	.	.	.	T	0.03739	0.0106	L	0.53249	1.67	0.09310	N	1	P;D	0.55385	0.888;0.971	P;P	0.54590	0.644;0.756	T	0.18587	-1.0332	7	0.07990	T	0.79	.	.	.	.	.	232;497	Q5TI25;Q5VTG7	NBPFE_HUMAN;.	S	232	ENSP00000358221:P232S	ENSP00000358221:P232S	P	-	1	0	NBPF14	146484213	0.785000	0.28726	0.001000	0.08648	0.001000	0.01503	-0.380000	0.07427	-0.486000	0.06744	-0.476000	0.04901	CCT	NBPF14	-	pfam_NBPF_dom	ENSG00000122497		0.502	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	HGNC	protein_coding		1044	0.10	1	G	NM_015383		148017589	148017589	-1	no_errors	ENST00000369219	ensembl	human	known	69_37n	missense	649	26.49	235	SNP	0.001	A
NEB	4703	genome.wustl.edu	37	2	152420119	152420119	+	Splice_Site	SNP	C	C	A			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr2:152420119C>A	ENST00000172853.10	-	91	13738		c.e91+1		NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTTACTTACCGCACTCCTC	0.468																																						dbGAP											0													224.0	213.0	216.0					2																	152420119		1984	4164	6148	-	-	-	SO:0001630	splice_region_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13590+1G>T	2.37:g.152420119C>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	-	e117+1	ENST00000172853.10	37	c.18693+1		2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509120	0.85282	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8426	0.96695	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152128365	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.408000	0.80041	2.765000	0.95021	0.557000	0.71058	.	NEB	-	-	ENSG00000183091		0.468	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		306	0.65	2	C	NM_004543	Intron	152420119	152420119	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	splice_site	196	30.00	84	SNP	1.000	A
NES	10763	genome.wustl.edu	37	1	156639945	156639945	+	Silent	SNP	T	T	G			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr1:156639945T>G	ENST00000368223.3	-	4	4167	c.4035A>C	c.(4033-4035)ccA>ccC	p.P1345P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1345	Tail.			AP -> E (in Ref. 1; CAA46780). {ECO:0000305}.	brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					tttcTGAGGGTGGGGCCTCAA	0.622																																						dbGAP											0													57.0	69.0	65.0					1																	156639945		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4035A>C	1.37:g.156639945T>G			O00552|Q3LIF5|Q5SYZ6	Silent	SNP	pfam_F	p.P1345	ENST00000368223.3	37	c.4035	CCDS1151.1	1																																																																																			NES	-	NULL	ENSG00000132688		0.622	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	55	0.00	0	T	NM_006617		156639945	156639945	-1	no_errors	ENST00000368223	ensembl	human	known	69_37n	silent	29	19.44	7	SNP	0.000	G
NOL8	55035	genome.wustl.edu	37	9	95077554	95077554	+	Silent	SNP	A	A	C			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr9:95077554A>C	ENST00000535387.1	-	6	1352	c.1353T>G	c.(1351-1353)tcT>tcG	p.S451S	NOL8_ENST00000358855.4_Silent_p.S383S|NOL8_ENST00000442668.2_Silent_p.S451S|NOL8_ENST00000542053.1_Silent_p.S383S|NOL8_ENST00000545558.1_Silent_p.S451S					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TACTGGAGTGAGAGGGAGATT	0.408																																						dbGAP											0													60.0	57.0	58.0					9																	95077554		1893	4122	6015	-	-	-	SO:0001819	synonymous_variant	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1353T>G	9.37:g.95077554A>C				Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S451	ENST00000535387.1	37	c.1353	CCDS47993.1	9																																																																																			NOL8	-	NULL	ENSG00000198000		0.408	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	139	0.00	0	A	NM_017948		95077554	95077554	-1	no_errors	ENST00000442668	ensembl	human	known	69_37n	silent	62	36.36	36	SNP	0.001	C
NR1H4	9971	genome.wustl.edu	37	12	100928730	100928730	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr12:100928730G>C	ENST00000551379.1	+	4	719	c.691G>C	c.(691-693)Gat>Cat	p.D231H	NR1H4_ENST00000188403.7_Missense_Mutation_p.D227H|NR1H4_ENST00000392986.3_Missense_Mutation_p.D221H|NR1H4_ENST00000549996.1_Missense_Mutation_p.D170H|NR1H4_ENST00000548884.1_Missense_Mutation_p.D217H			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	231					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	GCAGCATGCAGATCAGACCGT	0.413																																						dbGAP											0													130.0	107.0	115.0					12																	100928730		2203	4300	6503	-	-	-	SO:0001583	missense	0			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.691G>C	12.37:g.100928730G>C	ENSP00000447149:p.Asp231His		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.D231H	ENST00000551379.1	37	c.691	CCDS55876.1	12	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860364	0.51482	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.94000	-3.04;-3.12;-3.33;-3.13;-3.05	5.64	5.64	0.86602	.	0.284252	0.41001	D	0.000969	D	0.95082	0.8407	L	0.40543	1.245	0.80722	D	1	D;B;D;D;B	0.89917	1.0;0.048;1.0;0.998;0.063	D;B;D;P;B	0.70487	0.969;0.017;0.954;0.865;0.042	D	0.94493	0.7703	10	0.44086	T	0.13	.	19.7174	0.96129	0.0:0.0:1.0:0.0	.	170;231;227;221;217	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	H	217;221;170;231;227	ENSP00000448506:D217H;ENSP00000376712:D221H;ENSP00000448978:D170H;ENSP00000447149:D231H;ENSP00000188403:D227H	ENSP00000188403:D227H	D	+	1	0	NR1H4	99452861	1.000000	0.71417	0.964000	0.40570	0.442000	0.32017	9.187000	0.94912	2.653000	0.90120	0.655000	0.94253	GAT	NR1H4	-	NULL	ENSG00000012504		0.413	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	HGNC	protein_coding	OTTHUMT00000409140.1	97	0.00	0	G	NM_005123		100928730	100928730	+1	no_errors	ENST00000551379	ensembl	human	known	69_37n	missense	72	35.14	39	SNP	1.000	C
NT5C1A	84618	genome.wustl.edu	37	1	40124845	40124846	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr1:40124845_40124846delGC	ENST00000235628.1	-	6	1053_1054	c.1054_1055delGC	c.(1054-1056)gcafs	p.A352fs		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	352					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGTGTCTGTGCCACACCATAA	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.1054_1055delGC	1.37:g.40124845_40124846delGC	ENSP00000235628:p.Ala352fs		Q3SYB9|Q5TG98|Q9BWT8	Frame_Shift_Del	DEL	pfam_5-nucleotidase	p.A352fs	ENST00000235628.1	37	c.1055_1054	CCDS440.1	1																																																																																			NT5C1A	-	pfam_5-nucleotidase	ENSG00000116981		0.579	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C1A	HGNC	protein_coding	OTTHUMT00000025626.1	45	0.00	0	GC	NM_032526		40124845	40124846	-1	no_errors	ENST00000235628	ensembl	human	known	69_37n	frame_shift_del	27	50.00	27	DEL	1.000:1.000	-
NXF1	10482	genome.wustl.edu	37	11	62572890	62572890	+	5'UTR	SNP	T	T	C	rs372883109		TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr11:62572890T>C	ENST00000532297.1	-	0	568				NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000531709.2_5'UTR|RP11-727F15.13_ENST00000596971.1_RNA|NXF1_ENST00000439713.2_5'UTR|NXF1_ENST00000294172.2_5'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAACCTAACTCCCAAGCGCT	0.657																																						dbGAP											0													25.0	30.0	29.0					11																	62572890		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.-62A>G	11.37:g.62572890T>C			B4E269|Q99799|Q9UQL2	RNA	SNP	-	NULL	ENST00000532297.1	37	NULL	CCDS8037.1	11																																																																																			NXF1	-	-	ENSG00000162231		0.657	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	31	0.00	0	T	NM_006362		62572890	62572890	-1	no_errors	ENST00000526163	ensembl	human	known	69_37n	rna	14	30.00	6	SNP	0.000	C
P2RX5	5026	genome.wustl.edu	37	17	3592830	3592830	+	Missense_Mutation	SNP	C	C	T	rs1050281		TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr17:3592830C>T	ENST00000225328.5	-	7	1107	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000345901.3_Missense_Mutation_p.V213M|P2RX5_ENST00000552276.1_Missense_Mutation_p.V236M|P2RX5_ENST00000551178.1_Missense_Mutation_p.V212M|P2RX5_ENST00000547178.1_Missense_Mutation_p.V236M|P2RX5_ENST00000552050.1_Missense_Mutation_p.V177M|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.V237M|P2RX5_ENST00000435558.1_Missense_Mutation_p.V237M	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	237				VI -> IV (in Ref. 2; AAC51931). {ECO:0000305}.	cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CAGCGGATCACGGAGCCCAGT	0.622																																						dbGAP											0													152.0	127.0	136.0					17																	3592830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.709G>A	17.37:g.3592830C>T	ENSP00000225328:p.Val237Met		G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor	p.V237M	ENST00000225328.5	37	c.709	CCDS11034.1	17	.	.	.	.	.	.	.	.	.	.	C	8.947	0.967146	0.18659	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050	T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31	5.44	-10.9	0.00192	.	1.333040	0.04420	N	0.367537	T	0.03695	0.0105	N	0.21373	0.66	0.20074	N	0.999936	P;P;P;P;P;P	0.45078	0.85;0.762;0.762;0.762;0.8;0.762	B;B;B;B;B;B	0.42625	0.164;0.221;0.273;0.157;0.393;0.273	T	0.28427	-1.0044	10	0.37606	T	0.19	-1.0621	4.1094	0.10052	0.1537:0.1047:0.1901:0.5514	rs1050281	177;213;236;212;237;237	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	M	237;212;236;237;213;177	ENSP00000415370:V237M;ENSP00000447545:V212M;ENSP00000448355:V236M;ENSP00000225328:V237M;ENSP00000342161:V213M;ENSP00000450006:V177M	ENSP00000225328:V237M	V	-	1	0	P2RX5	3539579	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	-2.053000	0.01400	-1.999000	0.00967	-0.140000	0.14226	GTG	P2RX5	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000083454		0.622	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX5	HGNC	protein_coding	OTTHUMT00000207388.3	56	0.00	0	C	NM_002561, NM_175080, NM_175081		3592830	3592830	-1	no_errors	ENST00000435558	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	0.000	T
PIP4K2A	5305	genome.wustl.edu	37	10	22880688	22880688	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr10:22880688G>T	ENST00000376573.4	-	4	590	c.362C>A	c.(361-363)cCc>cAc	p.P121H	PIP4K2A_ENST00000422321.1_5'UTR|PIP4K2A_ENST00000323883.7_5'Flank|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.P62H	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	121	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GTTGGGGAGGGGTGCGCTCCT	0.537																																						dbGAP											0													61.0	56.0	58.0					10																	22880688		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.362C>A	10.37:g.22880688G>T	ENSP00000365757:p.Pro121His		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.P121H	ENST00000376573.4	37	c.362	CCDS7141.1	10	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715563	0.89112	.	.	ENSG00000150867	ENST00000376573;ENST00000545335;ENST00000422321;ENST00000376565	T;T	0.30981	1.51;1.51	5.98	5.98	0.97165	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.056152	0.64402	D	0.000001	T	0.68118	0.2966	H	0.95745	3.715	0.80722	D	1	D	0.58620	0.983	P	0.62184	0.899	T	0.76613	-0.2895	10	0.66056	D	0.02	-23.4443	20.4561	0.99145	0.0:0.0:1.0:0.0	.	121	P48426	PI42A_HUMAN	H	121;62;73;80	ENSP00000365757:P121H;ENSP00000442098:P62H	ENSP00000365749:P80H	P	-	2	0	PIP4K2A	22920694	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	CCC	PIP4K2A	-	smart_PInositol-4P-5-kinase_core_sub	ENSG00000150867		0.537	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2A	HGNC	protein_coding	OTTHUMT00000047193.1	118	0.00	0	G	NM_005028		22880688	22880688	-1	no_errors	ENST00000376573	ensembl	human	known	69_37n	missense	61	30.34	27	SNP	1.000	T
PLA2G15	23659	genome.wustl.edu	37	16	68289854	68289855	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr16:68289854_68289855insG	ENST00000219345.5	+	5	771_772	c.688_689insG	c.(688-690)tggfs	p.W230fs	RP11-96D1.7_ENST00000569843.1_RNA|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000566188.1_Frame_Shift_Ins_p.LG188fs|PLA2G15_ENST00000413021.2_Frame_Shift_Ins_p.W136fs	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	230					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGTG	0.629																																						dbGAP											0										11,4251		0,11,2120						5.6	1.0			28	14,8240		0,14,4113	no	frameshift	PLA2G15	NM_012320.3		0,25,6233	A1A1,A1R,RR		0.1696,0.2581,0.1997				25,12491				-	-	-	SO:0001589	frameshift_variant	0			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.695dupG	16.37:g.68289861_68289861dupG	ENSP00000219345:p.Trp230fs		B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Frame_Shift_Ins	INS	pfam_LACT/PDAT_acylTrfase	p.V233fs	ENST00000219345.5	37	c.688_689	CCDS10864.1	16																																																																																			PLA2G15	-	pfam_LACT/PDAT_acylTrfase	ENSG00000103066		0.629	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G15	HGNC	protein_coding	OTTHUMT00000268888.2	29	0.00	0	-	NM_012320		68289854	68289855	+1	no_errors	ENST00000219345	ensembl	human	known	69_37n	frame_shift_ins	25	13.79	4	INS	1.000:1.000	G
PXDN	7837	genome.wustl.edu	37	2	1684022	1684023	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr2:1684022_1684023insAT	ENST00000252804.4	-	7	722_723	c.672_673insAT	c.(670-675)tatcccfs	p.P225fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	225	LRRCT.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATGCGTCTGGGATATTCACAGA	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.671_672dupAT	2.37:g.1684025_1684026dupAT	ENSP00000252804:p.Pro225fs		A8QM65|D6W4Y0|Q4KMG2	Frame_Shift_Ins	INS	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.P224fs	ENST00000252804.4	37	c.673_672	CCDS46221.1	2																																																																																			PXDN	-	smart_Cys-rich_flank_reg_C	ENSG00000130508		0.579	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	161	0.00	0	-	XM_056455		1684022	1684023	-1	no_errors	ENST00000252804	ensembl	human	known	69_37n	frame_shift_ins	115	21.77	32	INS	0.996:0.310	AT
RGPD4	285190	genome.wustl.edu	37	2	108496541	108496541	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr2:108496541C>A	ENST00000408999.3	+	21	5119	c.5042C>A	c.(5041-5043)gCa>gAa	p.A1681E	RGPD4_ENST00000354986.4_Missense_Mutation_p.A1681E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1681					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAACCAGTGCAGTCCTTATG	0.453																																						dbGAP											0													234.0	188.0	202.0					2																	108496541		692	1591	2283	-	-	-	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.5042C>A	2.37:g.108496541C>A	ENSP00000386810:p.Ala1681Glu		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.A1681E	ENST00000408999.3	37	c.5042	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	c	10.35	1.325920	0.24080	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.42131	1.0;0.98	0.854	0.854	0.19007	.	.	.	.	.	T	0.52565	0.1742	L	0.50333	1.59	0.32668	N	0.5172	D	0.76494	0.999	D	0.68621	0.959	T	0.61705	-0.7008	9	0.87932	D	0	-22.4557	9.0795	0.36542	0.0:1.0:0.0:0.0	.	1681	Q7Z3J3	RGPD4_HUMAN	E	1681;1681;1048	ENSP00000347081:A1681E;ENSP00000386810:A1681E	ENSP00000347081:A1681E	A	+	2	0	RGPD4	107862973	1.000000	0.71417	0.943000	0.38184	0.266000	0.26442	3.797000	0.55514	0.767000	0.33267	0.398000	0.26397	GCA	RGPD4	-	NULL	ENSG00000196862		0.453	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	573	0.17	1	C	XM_496581		108496541	108496541	+1	no_errors	ENST00000354986	ensembl	human	known	69_37n	missense	449	11.26	57	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78346457	78346457	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr17:78346457A>C	ENST00000582970.1	+	48	12817	c.12674A>C	c.(12673-12675)tAc>tCc	p.Y4225S	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.Y4274S|RNF213_ENST00000336301.6_Missense_Mutation_p.Y2298S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4225					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCGGTTGAATACCTGCAAGAG	0.572																																						dbGAP											0													34.0	33.0	34.0					17																	78346457		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12674A>C	17.37:g.78346457A>C	ENSP00000464087:p.Tyr4225Ser		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Y4225S	ENST00000582970.1	37	c.12674	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754253	0.49362	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23754	1.89	5.29	5.29	0.74685	.	0.073475	0.56097	D	0.000028	T	0.45538	0.1347	M	0.73598	2.24	0.32972	D	0.522468	D;D	0.69078	0.997;0.969	P;P	0.62298	0.9;0.711	T	0.61327	-0.7085	10	0.48119	T	0.1	.	10.4559	0.44550	0.8547:0.0:0.0:0.1453	.	4274;2298	C9JCP4;Q63HN8	.;RN213_HUMAN	S	4225;4274;2298	ENSP00000338218:Y2298S	ENSP00000338218:Y2298S	Y	+	2	0	RNF213	75961052	0.996000	0.38824	0.916000	0.36221	0.018000	0.09664	3.378000	0.52432	1.984000	0.57885	0.533000	0.62120	TAC	RNF213	-	NULL	ENSG00000173821		0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	33	0.00	0	A	NM_020914		78346457	78346457	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	25	18.75	6	SNP	0.998	C
SOX6	55553	genome.wustl.edu	37	11	16007966	16007966	+	Splice_Site	SNP	C	C	T			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr11:16007966C>T	ENST00000352083.6	-	15	2044	c.1967G>A	c.(1966-1968)gGa>gAa	p.G656E	SOX6_ENST00000527619.1_Splice_Site_p.G632E|SOX6_ENST00000528429.1_Splice_Site_p.G656E|SOX6_ENST00000316399.6_Splice_Site_p.G636E|SOX6_ENST00000528252.1_Splice_Site_p.G629E|SOX6_ENST00000396356.3_Splice_Site_p.G636E			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	656					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCAGCGAGATCCTAGAAATAA	0.423																																						dbGAP											0													93.0	92.0	93.0					11																	16007966		2200	4294	6494	-	-	-	SO:0001630	splice_region_variant	0			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1967-1G>A	11.37:g.16007966C>T			Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.G656E	ENST00000352083.6	37	c.1967		11	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376017	0.82682	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33;-5.33;-5.33	5.38	5.38	0.77491	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.97940	4.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97593	1.0118	10	0.87932	D	0	.	19.1245	0.93376	0.0:1.0:0.0:0.0	.	636;656;632	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	E	636;656;636;629;632;656	ENSP00000324948:G636E;ENSP00000339876:G656E;ENSP00000379644:G636E;ENSP00000432134:G629E;ENSP00000434455:G632E;ENSP00000433233:G656E	ENSP00000324948:G636E	G	-	2	0	SOX6	15964542	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.818000	0.86416	2.530000	0.85305	0.655000	0.94253	GGA	SOX6	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000110693		0.423	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	120	0.00	0	C	NM_033326	Missense_Mutation	16007966	16007966	-1	no_errors	ENST00000352083	ensembl	human	known	69_37n	missense	158	22.93	47	SNP	1.000	T
TCEB3B	51224	genome.wustl.edu	37	18	44559482	44559483	+	In_Frame_Ins	INS	-	-	TAT	rs201659207		TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr18:44559482_44559483insTAT	ENST00000332567.4	-	1	2505_2506	c.2153_2154insATA	c.(2152-2154)aat>aaATAt	p.718_718N>KY	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	718					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGCGTGCTCATTGCTGCTGCT	0.639																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2153_2154insATA	18.37:g.44559482_44559483insTAT	ENSP00000331302:p.Asn718delinsLysTyr		Q9P2V9	In_Frame_Ins	INS	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.N718in_frame_insKY	ENST00000332567.4	37	c.2154_2153	CCDS11932.1	18																																																																																			TCEB3B	-	NULL	ENSG00000206181		0.639	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	80	0.00	0	-	NM_016427		44559482	44559483	-1	no_errors	ENST00000332567	ensembl	human	known	69_37n	in_frame_ins	62	43.64	48	INS	0.000:0.057	TAT
TIAM2	26230	genome.wustl.edu	37	6	155571033	155571035	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr6:155571033_155571035delAGA	ENST00000461783.3	+	23	5154_5156	c.3881_3883delAGA	c.(3880-3885)cagaag>cag	p.K1295del	TIAM2_ENST00000529824.2_In_Frame_Del_p.K1295del|TIAM2_ENST00000456144.1_In_Frame_Del_p.K1295del|TIAM2_ENST00000528391.2_In_Frame_Del_p.K631del|TIAM2_ENST00000456877.2_In_Frame_Del_p.K607del|TIAM2_ENST00000367174.2_In_Frame_Del_p.K671del|TIAM2_ENST00000275246.7_In_Frame_Del_p.K220del|TIAM2_ENST00000318981.5_In_Frame_Del_p.K1295del|TIAM2_ENST00000360366.4_In_Frame_Del_p.K1319del			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1295					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AATGAGATGCAGAAGATCTATGA	0.438																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3881_3883delAGA	6.37:g.155571036_155571038delAGA	ENSP00000437188:p.Lys1295del		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	In_Frame_Del	DEL	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.K1295in_frame_del	ENST00000461783.3	37	c.3881_3883	CCDS34558.1	6																																																																																			TIAM2	-	superfamily_DH-domain	ENSG00000146426		0.438	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	144	0.00	0	AGA	NM_012454		155571033	155571035	+1	no_errors	ENST00000456144	ensembl	human	known	69_37n	in_frame_del	92	19.66	23	DEL	1.000:1.000:1.000	-
TMCO4	255104	genome.wustl.edu	37	1	20027296	20027297	+	Frame_Shift_Ins	INS	-	-	G	rs554202425		TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr1:20027296_20027297insG	ENST00000294543.6	-	14	1587_1588	c.1346_1347insC	c.(1345-1347)aagfs	p.K449fs	TMCO4_ENST00000375122.2_Frame_Shift_Ins_p.K409fs|TMCO4_ENST00000375127.1_Frame_Shift_Ins_p.K449fs|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	449						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CGGACACCACCTTCCGGAAAGG	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1346_1347insC	1.37:g.20027296_20027297insG	ENSP00000294543:p.Lys449fs		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Frame_Shift_Ins	INS	pfam_DUF726,pfam_DUF900_hydrolase	p.K449fs	ENST00000294543.6	37	c.1347_1346	CCDS198.1	1																																																																																			TMCO4	-	pfam_DUF726,pfam_DUF900_hydrolase	ENSG00000162542		0.574	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	77	0.00	0	-	NM_181719		20027296	20027297	-1	no_errors	ENST00000294543	ensembl	human	known	69_37n	frame_shift_ins	50	32.43	24	INS	1.000:1.000	G
TNC	3371	genome.wustl.edu	37	9	117838681	117838681	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr9:117838681T>C	ENST00000350763.4	-	8	3259	c.2848A>G	c.(2848-2850)Acc>Gcc	p.T950A	TNC_ENST00000345230.3_Missense_Mutation_p.T950A|TNC_ENST00000535648.1_Missense_Mutation_p.T950A|TNC_ENST00000537320.1_Missense_Mutation_p.T950A|TNC_ENST00000542877.1_Missense_Mutation_p.T950A|TNC_ENST00000341037.4_Missense_Mutation_p.T950A|TNC_ENST00000340094.3_Missense_Mutation_p.T950A|TNC_ENST00000423613.2_Missense_Mutation_p.T950A|TNC_ENST00000346706.3_Missense_Mutation_p.T950A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	950	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTGAGTGTGGTTTTGGTTGTG	0.542																																						dbGAP											0													167.0	157.0	161.0					9																	117838681		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2848A>G	9.37:g.117838681T>C	ENSP00000265131:p.Thr950Ala		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.T950A	ENST00000350763.4	37	c.2848	CCDS6811.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.450|6.450	0.451244|0.451244	0.12223|0.12223	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000442945|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.|T;T;T;T;T;T;T;T;T	.|0.54866	.|0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.83|5.83	4.7|4.7	0.59300|0.59300	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.174005	.|0.52532	.|D	.|0.000075	.|T	.|0.20577	.|0.0495	N|N	0.01219|0.01219	-0.95|-0.95	0.33196|0.33196	D|D	0.551475|0.551475	.|B;B	.|0.13145	.|0.007;0.0	.|B;B	.|0.22601	.|0.04;0.009	.|T	.|0.28235	.|-1.0050	.|10	.|0.13470	.|T	.|0.59	.|.	7.0823|7.0823	0.25237|0.25237	0.0:0.1641:0.0:0.8359|0.0:0.1641:0.0:0.8359	.|.	.|950;950	.|E9PC84;P24821	.|.;TENA_HUMAN	.|A	-1|950	.|ENSP00000344400:T950A;ENSP00000438152:T950A;ENSP00000344555:T950A;ENSP00000345861:T950A;ENSP00000265131:T950A;ENSP00000339553:T950A;ENSP00000411406:T950A;ENSP00000443478:T950A;ENSP00000442242:T950A	.|ENSP00000344400:T950A	.|T	-|-	.|1	.|0	TNC|TNC	116878502|116878502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.323000|1.323000	0.33701|0.33701	2.222000|2.222000	0.72286|0.72286	0.533000|0.533000	0.62120|0.62120	.|ACC	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.542	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	366	0.00	0	T	NM_002160		117838681	117838681	-1	no_errors	ENST00000350763	ensembl	human	known	69_37n	missense	248	22.46	73	SNP	1.000	C
WDR64	128025	genome.wustl.edu	37	1	241823900	241823900	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A04Y-01A-21W-A050-09	TCGA-A2-A04Y-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3669bbbd-2e75-4b57-a5a8-8eebc25a97c2	f2467587-34f3-406d-8b3a-143c1bb52667	g.chr1:241823900G>C	ENST00000366552.2	+	2	421	c.214G>C	c.(214-216)Gat>Cat	p.D72H	WDR64_ENST00000461971.1_3'UTR|WDR64_ENST00000437684.2_Missense_Mutation_p.D72H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	72										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAAGAATCAAGATGTGAAACG	0.393																																						dbGAP											0													241.0	202.0	214.0					1																	241823900		692	1591	2283	-	-	-	SO:0001583	missense	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.214G>C	1.37:g.241823900G>C	ENSP00000355510:p.Asp72His		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D72H	ENST00000366552.2	37	c.214		1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095134	0.76870	.	.	ENSG00000162843	ENST00000366552;ENST00000437684	T;T	0.49720	0.85;0.77	5.36	5.36	0.76844	.	0.107759	0.41194	D	0.000931	T	0.63224	0.2493	M	0.66939	2.045	0.39484	D	0.967932	.	.	.	.	.	.	T	0.67734	-0.5594	8	0.72032	D	0.01	-23.9458	15.9946	0.80230	0.0:0.0:1.0:0.0	.	.	.	.	H	72	ENSP00000355510:D72H;ENSP00000402446:D72H	ENSP00000355510:D72H	D	+	1	0	WDR64	239890523	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.935000	0.56560	2.503000	0.84419	0.655000	0.94253	GAT	WDR64	-	NULL	ENSG00000162843		0.393	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		200	0.00	0	G	NM_144625		241823900	241823900	+1	no_errors	ENST00000366552	ensembl	human	known	69_37n	missense	163	58.44	232	SNP	1.000	C
