#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC1	4363	genome.wustl.edu	37	16	16146590	16146590	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr16:16146590C>G	ENST00000399410.3	+	11	1565	c.1390C>G	c.(1390-1392)Cct>Gct	p.P464A	ABCC1_ENST00000349029.5_Missense_Mutation_p.P464A|ABCC1_ENST00000351154.5_Missense_Mutation_p.P464A|ABCC1_ENST00000399408.2_Missense_Mutation_p.P464A|ABCC1_ENST00000345148.5_Missense_Mutation_p.P464A|ABCC1_ENST00000346370.5_Missense_Mutation_p.P464A	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	464	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.P464A(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GAATCTGGGCCCTTCCGTCCT	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											126.0	128.0	127.0					16																	16146590		2110	4224	6334	-	-	-	SO:0001583	missense	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1390C>G	16.37:g.16146590C>G	ENSP00000382342:p.Pro464Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.P464A	ENST00000399410.3	37	c.1390	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572249	0.28092	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	5.12	5.12	0.69794	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.052259	0.85682	D	0.000000	D	0.87071	0.6086	N	0.12961	0.28	0.48452	D	0.999658	P;P;B;B;P;B;B	0.51537	0.946;0.884;0.282;0.083;0.884;0.208;0.174	P;B;B;B;B;B;B	0.48677	0.586;0.41;0.306;0.159;0.41;0.4;0.278	D	0.89344	0.3656	10	0.59425	D	0.04	-16.5094	17.5339	0.87822	0.0:1.0:0.0:0.0	.	464;464;464;464;464;464;464	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	A	464;464;464;464;464;464;138	ENSP00000382342:P464A;ENSP00000382340:P464A;ENSP00000263019:P464A;ENSP00000263017:P464A;ENSP00000263014:P464A;ENSP00000263016:P464A	ENSP00000263014:P464A	P	+	1	0	ABCC1	16054091	1.000000	0.71417	0.964000	0.40570	0.035000	0.12851	7.450000	0.80656	2.362000	0.80069	0.491000	0.48974	CCT	ABCC1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	ENSG00000103222		0.542	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	109	0.00	0	C	NM_004996		16146590	16146590	+1	no_errors	ENST00000399408	ensembl	human	known	69_37n	missense	53	43.01	40	SNP	1.000	G
ABCC9	10060	genome.wustl.edu	37	12	22028614	22028614	+	Missense_Mutation	SNP	G	G	C	rs200288646		TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:22028614G>C	ENST00000261201.4	-	15	2065	c.2066C>G	c.(2065-2067)tCc>tGc	p.S689C	ABCC9_ENST00000345162.2_Missense_Mutation_p.S653C|ABCC9_ENST00000261200.4_Missense_Mutation_p.S689C|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	689	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.S689C(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATCTATATTGGATAATGTAGC	0.303																																						dbGAP											2	Substitution - Missense(2)	breast(2)											80.0	80.0	80.0					12																	22028614		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2066C>G	12.37:g.22028614G>C	ENSP00000261201:p.Ser689Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S689C	ENST00000261201.4	37	c.2066	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267521	0.80469	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	5.55	5.55	0.83447	ABC transporter-like (1);	0.052679	0.85682	D	0.000000	D	0.96738	0.8935	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68353	0.928;0.957	D	0.96968	0.9706	10	0.72032	D	0.01	-12.1291	19.0952	0.93248	0.0:0.0:1.0:0.0	.	689;689	O60706;O60706-2	ABCC9_HUMAN;.	C	689;316;689;653	ENSP00000261200:S689C;ENSP00000440521:S316C;ENSP00000261201:S689C;ENSP00000261202:S653C	ENSP00000261200:S689C	S	-	2	0	ABCC9	21919881	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.519000	0.90563	2.597000	0.87782	0.484000	0.47621	TCC	ABCC9	-	pfscan_ABC_transporter-like	ENSG00000069431		0.303	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	159	0.00	0	G	NM_005691		22028614	22028614	-1	no_errors	ENST00000261200	ensembl	human	known	69_37n	missense	125	13.79	20	SNP	1.000	C
ACADVL	37	genome.wustl.edu	37	17	7127320	7127320	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr17:7127320C>T	ENST00000356839.5	+	14	1545	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	ACADVL_ENST00000350303.5_Missense_Mutation_p.R434C|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Missense_Mutation_p.R479C	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	456	Catalytic.		R -> H (in ACADVLD).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)	p.R456C(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CCGAGATCTTCGCATCTTCCG	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											97.0	92.0	94.0					17																	7127320		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1366C>T	17.37:g.7127320C>T	ENSP00000349297:p.Arg456Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.R456C	ENST00000356839.5	37	c.1366	CCDS11090.1	17	.	.	.	.	.	.	.	.	.	.	C	9.571	1.121134	0.20877	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.97041	-4.22;-4.22	5.74	5.74	0.90152	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	H	0.99507	4.6	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	0.98581	1.0650	10	0.87932	D	0	.	15.4119	0.74933	0.0:1.0:0.0:0.0	.	479;434;456	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	C	479;502;434;456;502	ENSP00000438689:R479C;ENSP00000344152:R434C	ENSP00000325395:R456C	R	+	1	0	ACADVL	7068044	0.997000	0.39634	0.892000	0.35008	0.398000	0.30690	1.770000	0.38532	2.719000	0.93026	0.655000	0.94253	CGC	ACADVL	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000072778		0.552	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ACADVL	HGNC	protein_coding	OTTHUMT00000220001.5	51	0.00	0	C	NM_000018		7127320	7127320	+1	no_errors	ENST00000356839	ensembl	human	known	69_37n	missense	7	50.00	7	SNP	1.000	T
ADK	132	genome.wustl.edu	37	10	75960544	75960544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr10:75960544G>T	ENST00000286621.2	+	2	138	c.88G>T	c.(88-90)Gga>Tga	p.G30*	ADK_ENST00000539909.1_Nonsense_Mutation_p.G30*|ADK_ENST00000372734.3_Nonsense_Mutation_p.G13*|ADK_ENST00000541550.1_Nonsense_Mutation_p.G13*	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	30			G -> E (in HMAKD; the mutant shows some residual activity). {ECO:0000269|PubMed:21963049}.		adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)	p.G30*(1)		breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	CTTTGGAATGGGAAATCCTCT	0.299																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											103.0	98.0	100.0					10																	75960544		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.88G>T	10.37:g.75960544G>T	ENSP00000286621:p.Gly30*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Nonsense_Mutation	SNP	pfam_PfkB,prints_Adenokinase	p.G30*	ENST00000286621.2	37	c.88	CCDS7343.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.658007	0.96734	.	.	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734;ENST00000541550	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.5826	19.3727	0.94495	0.0:0.0:1.0:0.0	.	.	.	.	X	30;30;13;13	.	ENSP00000286621:G30X	G	+	1	0	ADK	75630550	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.765000	0.91724	2.878000	0.98634	0.650000	0.86243	GGA	ADK	-	NULL	ENSG00000156110		0.299	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADK	HGNC	protein_coding	OTTHUMT00000048763.1	69	0.00	0	G	NM_001123, NM_006721		75960544	75960544	+1	no_errors	ENST00000286621	ensembl	human	known	69_37n	nonsense	14	82.72	67	SNP	1.000	T
B4GALNT3	283358	genome.wustl.edu	37	12	661326	661326	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:661326A>T	ENST00000266383.5	+	12	1218	c.1205A>T	c.(1204-1206)gAc>gTc	p.D402V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	402					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TACTACCAAGACCGGTGAGAG	0.562																																						dbGAP											0													85.0	80.0	81.0					12																	661326		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1205A>T	12.37:g.661326A>T	ENSP00000266383:p.Asp402Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.D402V	ENST00000266383.5	37	c.1205	CCDS8504.1	12	.	.	.	.	.	.	.	.	.	.	A	20.3	3.960758	0.74016	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.71698	-0.59;-0.59	5.0	3.85	0.44370	.	0.263588	0.43919	D	0.000511	T	0.71367	0.3331	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.54397	0.966;0.966	P;P	0.49012	0.598;0.543	T	0.73260	-0.4039	10	0.87932	D	0	-27.2022	10.8758	0.46911	0.9252:0.0:0.0748:0.0	.	304;402	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	V	402;304	ENSP00000266383:D402V;ENSP00000322953:D304V	ENSP00000266383:D402V	D	+	2	0	B4GALNT3	531587	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.801000	0.69115	0.840000	0.34995	0.533000	0.62120	GAC	B4GALNT3	-	NULL	ENSG00000139044		0.562	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	HGNC	protein_coding	OTTHUMT00000251406.2	49	0.00	0	A	NM_173593		661326	661326	+1	no_errors	ENST00000266383	ensembl	human	known	69_37n	missense	47	12.73	7	SNP	1.000	T
BMP4	652	genome.wustl.edu	37	14	54417573	54417573	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr14:54417573T>A	ENST00000245451.4	-	4	797	c.404A>T	c.(403-405)aAc>aTc	p.N135I	BMP4_ENST00000417573.1_Missense_Mutation_p.N135I|BMP4_ENST00000559087.1_Missense_Mutation_p.N135I|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000558984.1_Missense_Mutation_p.N135I	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	135					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)	p.N135I(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AAAAGCAGAGTTTTCACTGGT	0.493																																						dbGAP											1	Substitution - Missense(1)	breast(1)											65.0	59.0	61.0					14																	54417573		2197	4284	6481	-	-	-	SO:0001583	missense	0			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.404A>T	14.37:g.54417573T>A	ENSP00000245451:p.Asn135Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UM80	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.N135I	ENST00000245451.4	37	c.404	CCDS9715.1	14	.	.	.	.	.	.	.	.	.	.	T	8.941	0.965891	0.18659	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.66099	-0.19;-0.19	5.37	3.02	0.34903	Transforming growth factor-beta, N-terminal (1);	0.550527	0.21754	N	0.069626	T	0.40956	0.1138	N	0.14661	0.345	0.30089	N	0.808505	B	0.16396	0.017	B	0.29267	0.1	T	0.34700	-0.9818	10	0.54805	T	0.06	.	2.2432	0.04024	0.2598:0.0762:0.1345:0.5295	.	135	P12644	BMP4_HUMAN	I	135	ENSP00000245451:N135I;ENSP00000394165:N135I	ENSP00000245451:N135I	N	-	2	0	BMP4	53487323	0.990000	0.36364	1.000000	0.80357	0.830000	0.47004	0.794000	0.26958	0.490000	0.27771	0.533000	0.62120	AAC	BMP4	-	pfam_TGF-b_N	ENSG00000125378		0.493	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP4	HGNC	protein_coding	OTTHUMT00000276894.2	266	0.00	0	T	NM_001202		54417573	54417573	-1	no_errors	ENST00000245451	ensembl	human	known	69_37n	missense	54	48.15	52	SNP	0.896	A
BMPER	168667	genome.wustl.edu	37	7	34097695	34097695	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr7:34097695A>C	ENST00000297161.2	+	11	1326	c.952A>C	c.(952-954)Aat>Cat	p.N318H	BMPER_ENST00000426693.1_Missense_Mutation_p.N318H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	318	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.N318H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTCCTCTATCAATTGTACCAT	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)											272.0	203.0	227.0					7																	34097695		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.952A>C	7.37:g.34097695A>C	ENSP00000297161:p.Asn318His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1P8|Q8TF36	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.N318H	ENST00000297161.2	37	c.952	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	A	22.3	4.278000	0.80692	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.65178	-0.14;-0.14	5.63	5.63	0.86233	von Willebrand factor, type C (3);	0.085057	0.85682	D	0.000000	T	0.76543	0.4002	M	0.62209	1.925	0.58432	D	0.999997	D	0.71674	0.998	D	0.71184	0.972	T	0.78391	-0.2222	10	0.62326	D	0.03	.	16.1307	0.81436	1.0:0.0:0.0:0.0	.	318	Q8N8U9	BMPER_HUMAN	H	318	ENSP00000297161:N318H;ENSP00000393950:N318H	ENSP00000297161:N318H	N	+	1	0	BMPER	34064220	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	8.268000	0.89876	2.263000	0.75096	0.533000	0.62120	AAT	BMPER	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000164619		0.507	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	126	0.00	0	A	NM_133468		34097695	34097695	+1	no_errors	ENST00000297161	ensembl	human	known	69_37n	missense	48	44.83	39	SNP	0.997	C
C17orf53	78995	genome.wustl.edu	37	17	42225520	42225520	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr17:42225520G>C	ENST00000319977.4	+	3	586	c.349G>C	c.(349-351)Gtg>Ctg	p.V117L	C17orf53_ENST00000245382.6_Missense_Mutation_p.V117L|C17orf53_ENST00000585683.1_Missense_Mutation_p.V117L	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	117								p.V117L(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCAGAGAAGAGTGACAGTGAC	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											109.0	112.0	111.0					17																	42225520		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.349G>C	17.37:g.42225520G>C	ENSP00000313500:p.Val117Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	NULL	p.V117L	ENST00000319977.4	37	c.349	CCDS11477.1	17	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260526	0.39995	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.46819	0.86;0.86	5.06	2.89	0.33648	.	0.903872	0.09365	N	0.812208	T	0.34077	0.0885	L	0.38175	1.15	0.09310	N	1	P;B;P	0.37207	0.587;0.017;0.587	B;B;B	0.32465	0.146;0.011;0.146	T	0.20874	-1.0262	10	0.52906	T	0.07	-0.4378	5.5793	0.17241	0.1255:0.1971:0.6774:0.0	.	117;117;117	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	L	117	ENSP00000313500:V117L;ENSP00000245382:V117L	ENSP00000245382:V117L	V	+	1	0	C17orf53	39581046	0.001000	0.12720	0.005000	0.12908	0.144000	0.21451	0.813000	0.27225	0.534000	0.28695	0.511000	0.50034	GTG	C17orf53	-	NULL	ENSG00000125319		0.552	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	HGNC	protein_coding	OTTHUMT00000457697.1	332	0.00	0	G	NM_024032		42225520	42225520	+1	no_errors	ENST00000319977	ensembl	human	known	69_37n	missense	38	73.43	105	SNP	0.013	C
C1GALT1	56913	genome.wustl.edu	37	7	7274170	7274170	+	Splice_Site	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr7:7274170G>A	ENST00000223122.3	+	1	282	c.220G>A	c.(220-222)Gat>Aat	p.D74N	C1GALT1_ENST00000436587.2_Splice_Site_p.D74N|C1GALT1_ENST00000402468.3_Splice_Site_p.D74N			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	74					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)	p.D74N(1)		breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CCAACATAAAGGTATGGTTTA	0.318																																						dbGAP											1	Substitution - Missense(1)	breast(1)											45.0	41.0	42.0					7																	7274170		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.220+1G>A	7.37:g.7274170G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96QH4|Q9BTU1	Missense_Mutation	SNP	pfam_Fringe-like,pfam_Glyco_trans_31	p.D74N	ENST00000223122.3	37	c.220	CCDS5355.1	7	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145390	0.37825	.	.	ENSG00000106392	ENST00000429911;ENST00000419721;ENST00000436587;ENST00000223122;ENST00000402468	T;T;T	0.56776	0.44;0.44;0.44	4.06	4.06	0.47325	.	0.069532	0.56097	D	0.000025	T	0.40670	0.1126	L	0.27053	0.805	0.80722	D	1	B;B	0.23937	0.094;0.093	B;B	0.26517	0.07;0.052	T	0.20974	-1.0259	10	0.14656	T	0.56	-23.9611	17.5515	0.87878	0.0:0.0:1.0:0.0	.	74;74	Q9NS00-2;Q9NS00	.;C1GLT_HUMAN	N	74	ENSP00000389176:D74N;ENSP00000223122:D74N;ENSP00000384550:D74N	ENSP00000223122:D74N	D	+	1	0	C1GALT1	7240695	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.066000	0.64351	2.551000	0.86045	0.462000	0.41574	GAT	C1GALT1	-	NULL	ENSG00000106392		0.318	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1	HGNC	protein_coding	OTTHUMT00000324379.2	148	0.00	0	G	NM_020156	Missense_Mutation	7274170	7274170	+1	no_errors	ENST00000223122	ensembl	human	known	69_37n	missense	115	45.50	96	SNP	1.000	A
CCAR1	55749	genome.wustl.edu	37	10	70531055	70531055	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr10:70531055G>C	ENST00000265872.6	+	18	2510	c.2391G>C	c.(2389-2391)gaG>gaC	p.E797D	CCAR1_ENST00000535016.1_Missense_Mutation_p.E782D|CCAR1_ENST00000543719.1_Missense_Mutation_p.E782D	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	797	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.E797D(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CTgagaaagaggacaaaaaag	0.323																																						dbGAP											1	Substitution - Missense(1)	breast(1)											62.0	66.0	65.0					10																	70531055		2202	4299	6501	-	-	-	SO:0001583	missense	0			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2391G>C	10.37:g.70531055G>C	ENSP00000265872:p.Glu797Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.E797D	ENST00000265872.6	37	c.2391	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458149	0.43634	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.25414	1.87;1.88;1.88;1.86;1.8;1.84	5.78	4.87	0.63330	.	0.112500	0.64402	D	0.000012	T	0.12987	0.0315	N	0.08118	0	0.38450	D	0.946948	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.004;0.003;0.004	T	0.13176	-1.0519	10	0.19147	T	0.46	-20.176	11.8398	0.52346	0.1407:0.0:0.8593:0.0	.	782;797;771	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	D	797;782;782;782;771;602	ENSP00000265872:E797D;ENSP00000441820:E782D;ENSP00000445254:E782D;ENSP00000439252:E782D;ENSP00000438610:E771D;ENSP00000439642:E602D	ENSP00000265872:E797D	E	+	3	2	CCAR1	70201061	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	0.389000	0.20751	1.447000	0.47661	0.558000	0.71614	GAG	CCAR1	-	NULL	ENSG00000060339		0.323	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	131	0.00	0	G	NM_018237		70531055	70531055	+1	no_errors	ENST00000265872	ensembl	human	known	69_37n	missense	188	45.51	157	SNP	1.000	C
CD163L1	283316	genome.wustl.edu	37	12	7556211	7556211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:7556211G>T	ENST00000313599.3	-	6	1385	c.1328C>A	c.(1327-1329)tCa>tAa	p.S443*	CD163L1_ENST00000416109.2_Nonsense_Mutation_p.S453*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.S443*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	443	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S443*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCAGAGAGCTGACTCATTCCC	0.443																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											138.0	128.0	131.0					12																	7556211		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1328C>A	12.37:g.7556211G>T	ENSP00000315945:p.Ser443*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Nonsense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.S443*	ENST00000313599.3	37	c.1328	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.570268	0.96540	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000545926	.	.	.	2.22	1.31	0.21738	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9907	0.24753	0.1545:0.0:0.8455:0.0	.	.	.	.	X	443;453;443;89	.	ENSP00000315945:S443X	S	-	2	0	CD163L1	7447478	0.009000	0.17119	0.072000	0.20136	0.895000	0.52256	1.612000	0.36889	0.471000	0.27319	0.563000	0.77884	TCA	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	323	0.00	0	G	NM_174941		7556211	7556211	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	nonsense	600	19.76	148	SNP	0.989	T
CDK5RAP2	55755	genome.wustl.edu	37	9	123280815	123280815	+	Missense_Mutation	SNP	T	T	G	rs374382839		TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr9:123280815T>G	ENST00000349780.4	-	12	1380	c.1201A>C	c.(1201-1203)Att>Ctt	p.I401L	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.I401L|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.I401L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.I401L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	401					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.I401L(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATCTTCTTAATGCTTCTACGC	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											214.0	182.0	193.0					9																	123280815		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1201A>C	9.37:g.123280815T>G	ENSP00000343818:p.Ile401Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.I401L	ENST00000349780.4	37	c.1201	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	T	12.09	1.833428	0.32421	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.78	0.732	0.18283	.	0.631279	0.15615	N	0.253162	T	0.22166	0.0534	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.17268	0.021;0.021;0.003;0.012	B;B;B;B	0.15484	0.013;0.013;0.01;0.006	T	0.25328	-1.0135	10	0.17369	T	0.5	.	5.4645	0.16635	0.0:0.2896:0.1375:0.5729	.	202;401;401;401	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	L	401;401;401;401;403	ENSP00000354065:I401L;ENSP00000352258:I401L;ENSP00000343818:I401L;ENSP00000353317:I401L	ENSP00000341695:I403L	I	-	1	0	CDK5RAP2	122320636	0.175000	0.23083	0.084000	0.20598	0.971000	0.66376	0.263000	0.18478	-0.107000	0.12088	0.460000	0.39030	ATT	CDK5RAP2	-	NULL	ENSG00000136861		0.527	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	257	0.00	0	T	NM_018249		123280815	123280815	-1	no_errors	ENST00000349780	ensembl	human	known	69_37n	missense	147	44.32	117	SNP	0.006	G
CFHR2	3080	genome.wustl.edu	37	1	196879568	196879568	+	Intron	SNP	C	C	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr1:196879568C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.H318Q|CFHR4_ENST00000367418.2_Missense_Mutation_p.H72Q|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000251424.4_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.H318Q(1)		large_intestine(2)|ovary(1)|skin(3)	6						ATTACATTCACTGCACACAAG	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)																																								-	-	-	SO:0001627	intron_variant	0			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-39017C>A	1.37:g.196879568C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14310|Q5T9T1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.H318Q	ENST00000367421.3	37	c.954		1	.	.	.	.	.	.	.	.	.	.	.	2.149	-0.394926	0.04899	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000538553	T;T	0.64803	-0.12;-0.12	2.42	-4.49	0.03504	.	.	.	.	.	T	0.34861	0.0912	N	0.19112	0.55	0.09310	N	1	B;B	0.28783	0.05;0.222	B;B	0.33799	0.023;0.17	T	0.36065	-0.9763	9	0.09084	T	0.74	.	0.3712	0.00379	0.1984:0.2832:0.2016:0.3169	.	318;319	C9J7J7;Q5DVJ7	.;.	Q	318;72;72	ENSP00000356386:H318Q;ENSP00000356388:H72Q	ENSP00000356386:H318Q	H	+	3	2	CFHR4	195146191	0.000000	0.05858	0.010000	0.14722	0.228000	0.25075	-2.659000	0.00852	-1.010000	0.03396	-1.373000	0.01185	CAC	CFHR4	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP	ENSG00000134365		0.423	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	CFHR4	HGNC	protein_coding		200	0.00	0	C	NM_005666		196879568	196879568	+1	no_errors	ENST00000367416	ensembl	human	known	69_37n	missense	130	44.21	103	SNP	0.011	A
COL14A1	7373	genome.wustl.edu	37	8	121170400	121170400	+	Silent	SNP	A	A	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr8:121170400A>G	ENST00000297848.3	+	3	390	c.120A>G	c.(118-120)gtA>gtG	p.V40V	COL14A1_ENST00000309791.4_Silent_p.V40V|COL14A1_ENST00000247781.3_Silent_p.V40V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Silent_p.V40V	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.V40V(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATATAATGTAATATCTCATG	0.343																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											68.0	68.0	68.0					8																	121170400		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.120A>G	8.37:g.121170400A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.V40	ENST00000297848.3	37	c.120	CCDS34938.1	8																																																																																			COL14A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.343	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	83	0.00	0	A	NM_021110		121170400	121170400	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	silent	127	30.22	55	SNP	0.029	G
CPEB3	22849	genome.wustl.edu	37	10	93952303	93952303	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr10:93952303C>G	ENST00000265997.4	-	3	1268	c.1096G>C	c.(1096-1098)Ggt>Cgt	p.G366R	CPEB3_ENST00000412050.4_Splice_Site_p.G366R	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	366					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)	p.G366R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TAGTGTTTACCTTTCAGAGGT	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											137.0	125.0	129.0					10																	93952303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1096G>C	10.37:g.93952303C>G	ENSP00000265997:p.Gly366Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G366R	ENST00000265997.4	37	c.1096	CCDS31246.1	10	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858493	0.91433	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.57595	0.48;0.39	6.06	6.06	0.98353	.	0.052724	0.85682	D	0.000000	T	0.58004	0.2092	N	0.08118	0	0.51233	D	0.999917	P;P;D	0.89917	0.907;0.952;1.0	B;B;D	0.91635	0.261;0.329;0.999	T	0.66901	-0.5806	10	0.87932	D	0	-10.8527	20.6314	0.99525	0.0:1.0:0.0:0.0	.	366;366;366	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	R	366	ENSP00000398310:G366R;ENSP00000265997:G366R	ENSP00000265997:G366R	G	-	1	0	CPEB3	93942283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.391000	0.79828	2.885000	0.99019	0.579000	0.79373	GGA;GGA;GGT	CPEB3	-	NULL	ENSG00000107864		0.413	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPEB3	HGNC	protein_coding	OTTHUMT00000049387.2	173	0.00	0	C	NM_014912		93952303	93952303	-1	no_errors	ENST00000265997	ensembl	human	known	69_37n	missense	101	65.07	190	SNP	1.000	G
CPN2	1370	genome.wustl.edu	37	3	194062839	194062839	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr3:194062839A>T	ENST00000323830.3	-	2	682	c.593T>A	c.(592-594)cTg>cAg	p.L198Q	CPN2_ENST00000429275.1_Missense_Mutation_p.L198Q	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	198					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.L198Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCTCAGCTTCAGGGTCTGCAG	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											49.0	54.0	52.0					3																	194062839		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.593T>A	3.37:g.194062839A>T	ENSP00000319464:p.Leu198Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L198Q	ENST00000323830.3	37	c.593	CCDS33920.1	3	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233040	0.58777	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	D;D	0.81908	-1.55;-1.55	4.77	4.77	0.60923	.	0.000000	0.27871	N	0.017504	D	0.94112	0.8112	H	0.97415	4	0.48762	D	0.999707	D	0.71674	0.998	D	0.77004	0.989	D	0.96045	0.9027	10	0.87932	D	0	.	14.622	0.68594	1.0:0.0:0.0:0.0	.	198	P22792	CPN2_HUMAN	Q	198	ENSP00000319464:L198Q;ENSP00000402232:L198Q	ENSP00000319464:L198Q	L	-	2	0	CPN2	195544534	1.000000	0.71417	0.756000	0.31282	0.700000	0.40528	5.888000	0.69758	1.914000	0.55421	0.459000	0.35465	CTG	CPN2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000178772		0.607	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN2	HGNC	protein_coding	OTTHUMT00000342856.2	40	0.00	0	A	NM_001080513		194062839	194062839	-1	no_errors	ENST00000323830	ensembl	human	known	69_37n	missense	24	40.00	16	SNP	0.997	T
CREBBP	1387	genome.wustl.edu	37	16	3778897	3778898	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr16:3778897_3778898insC	ENST00000262367.5	-	31	6959_6960	c.6150_6151insG	c.(6148-6153)gggcccfs	p.P2051fs	CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.P2013fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2051					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCATCCGGGGCCCAGCCACGG	0.698			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															dbGAP		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0																																										-	-	-	SO:0001589	frameshift_variant	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6151dupG	16.37:g.3778900_3778900dupC	ENSP00000262367:p.Pro2051fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Ins	INS	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P2050fs	ENST00000262367.5	37	c.6151_6150	CCDS10509.1	16																																																																																			CREBBP	-	pfam_Nuc_rcpt_coact_CREBbp	ENSG00000005339		0.698	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	18	0.00	0	-	NM_004380		3778897	3778898	-1	no_errors	ENST00000262367	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:1.000	C
CYP3A4	1576	genome.wustl.edu	37	7	99358487	99358487	+	Silent	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr7:99358487G>T	ENST00000336411.2	-	12	1554	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	CYP3A4_ENST00000354593.2_Silent_p.I307I	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	457					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.I457I(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GAAGGACTCTGATTAGAGCAA	0.358																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											227.0	204.0	212.0					7																	99358487		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1371C>A	7.37:g.99358487G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P05184|Q16757|Q9UK50	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.I457	ENST00000336411.2	37	c.1371	CCDS5674.1	7																																																																																			CYP3A4	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000160868		0.358	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	HGNC	protein_coding	OTTHUMT00000345059.1	327	0.00	0	G			99358487	99358487	-1	no_errors	ENST00000336411	ensembl	human	known	69_37n	silent	264	46.23	227	SNP	0.000	T
DENND1A	57706	genome.wustl.edu	37	9	126371761	126371761	+	Splice_Site	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr9:126371761C>G	ENST00000373624.2	-	11	921		c.e11-1		DENND1A_ENST00000542603.1_Splice_Site|DENND1A_ENST00000473039.1_Splice_Site|DENND1A_ENST00000373620.3_Splice_Site|DENND1A_ENST00000373618.1_Splice_Site|DENND1A_ENST00000394219.3_Splice_Site|DENND1A_ENST00000394215.2_Splice_Site	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CATGGGAGCACTGTGAAGAGA	0.413																																						dbGAP											1	Unknown(1)	breast(1)											104.0	101.0	102.0					9																	126371761		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.720-1G>C	9.37:g.126371761C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Splice_Site	SNP	-	e9-1	ENST00000373624.2	37	c.624-1	CCDS35133.1	9	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337984	0.60963	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0768	0.86588	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND1A	125411582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.418000	0.66429	2.780000	0.95670	0.655000	0.94253	.	DENND1A	-	-	ENSG00000119522		0.413	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1	123	0.00	0	C	NM_024820	Intron	126371761	126371761	-1	no_errors	ENST00000394219	ensembl	human	known	69_37n	splice_site	58	43.14	44	SNP	1.000	G
DENND3	22898	genome.wustl.edu	37	8	142146809	142146809	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr8:142146809C>G	ENST00000262585.2	+	2	342	c.64C>G	c.(64-66)Ccc>Gcc	p.P22A	DENND3_ENST00000518347.1_Missense_Mutation_p.P102A|DENND3_ENST00000424248.1_Missense_Mutation_p.P22A|DENND3_ENST00000519811.1_Missense_Mutation_p.P102A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	22	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCCGGGGCCCCCCAGAGC	0.667																																						dbGAP											0													15.0	20.0	18.0					8																	142146809		2200	4298	6498	-	-	-	SO:0001583	missense	0			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.64C>G	8.37:g.142146809C>G	ENSP00000262585:p.Pro22Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.P22A	ENST00000262585.2	37	c.64	CCDS34947.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.064|0.064	-1.216287|-1.216287	0.01542|0.01542	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	.|T;T;T;T;T;T	.|0.39787	.|1.06;3.06;2.65;1.06;1.06;1.06	4.98|4.98	0.733|0.733	0.18289|0.18289	.|uDENN (1);	.|1.918880	.|0.02681	.|N	.|0.109630	T|T	0.24967|0.24967	0.0606|0.0606	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.0;0.0	T|T	0.21143|0.21143	-1.0254|-1.0254	5|10	.|0.10111	.|T	.|0.7	-7.4089|-7.4089	11.2825|11.2825	0.49203|0.49203	0.0:0.401:0.4701:0.1289|0.0:0.401:0.4701:0.1289	.|.	.|102;22;102;102	.|E9PF32;A2RUS2;E5RHH2;E5RIR7	.|.;DEND3_HUMAN;.;.	G|A	78|35;102;22;22;102;102;102	.|ENSP00000430695:P102A;ENSP00000262585:P22A;ENSP00000410594:P22A;ENSP00000428714:P102A;ENSP00000429780:P102A;ENSP00000430786:P102A	.|ENSP00000262585:P22A	A|P	+|+	2|1	0|0	DENND3|DENND3	142215991|142215991	0.234000|0.234000	0.23783|0.23783	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	2.999000|2.999000	0.49473|0.49473	-0.171000|-0.171000	0.10797|0.10797	-0.171000|-0.171000	0.13296|0.13296	GCC|CCC	DENND3	-	pfscan_uDENN_dom	ENSG00000105339		0.667	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding		16	0.00	0	C	NM_014957		142146809	142146809	+1	no_errors	ENST00000262585	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.000	G
DUSP27	92235	genome.wustl.edu	37	1	167095371	167095371	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr1:167095371G>T	ENST00000361200.2	+	6	1169	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	DUSP27_ENST00000443333.1_Missense_Mutation_p.A335S|DUSP27_ENST00000271385.5_Missense_Mutation_p.A335S|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	335					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A335S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGCCACCCAGGCCTCCAAGCC	0.652																																						dbGAP											1	Substitution - Missense(1)	breast(1)											21.0	26.0	24.0					1																	167095371		2199	4297	6496	-	-	-	SO:0001583	missense	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1003G>T	1.37:g.167095371G>T	ENSP00000354483:p.Ala335Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.A335S	ENST00000361200.2	37	c.1003	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283344	0.59867	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03524	3.9;3.9;3.9	4.6	4.6	0.57074	.	5.535590	0.00166	N	0.000000	T	0.03220	0.0094	L	0.47716	1.5	0.33005	D	0.526804	B	0.32573	0.376	B	0.30401	0.115	T	0.42548	-0.9445	10	0.54805	T	0.06	-12.4104	17.9592	0.89079	0.0:0.0:1.0:0.0	.	335	Q5VZP5	DUS27_HUMAN	S	335	ENSP00000354483:A335S;ENSP00000271385:A335S;ENSP00000404874:A335S	ENSP00000271385:A335S	A	+	1	0	DUSP27	165361995	0.876000	0.30132	0.998000	0.56505	0.948000	0.59901	2.223000	0.42936	2.524000	0.85096	0.551000	0.68910	GCC	DUSP27	-	NULL	ENSG00000198842		0.652	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	23	0.00	0	G	NM_001080426		167095371	167095371	+1	no_errors	ENST00000271385	ensembl	human	known	69_37n	missense	3	66.67	6	SNP	1.000	T
DYNC2H1	79659	genome.wustl.edu	37	11	103014002	103014002	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr11:103014002G>T	ENST00000375735.2	+	18	2724	c.2580G>T	c.(2578-2580)tgG>tgT	p.W860C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W860C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	860	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATAGGAATGGATTGTAATTG	0.279																																						dbGAP											0													118.0	116.0	117.0					11																	103014002		1793	4066	5859	-	-	-	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2580G>T	11.37:g.103014002G>T	ENSP00000364887:p.Trp860Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.W860C	ENST00000375735.2	37	c.2580	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646620	0.67358	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.34072	1.38;1.38	5.35	5.35	0.76521	.	0.470755	0.17311	U	0.178863	T	0.69387	0.3105	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.968;0.986	T	0.75648	-0.3245	10	0.87932	D	0	.	19.0679	0.93119	0.0:0.0:1.0:0.0	.	860;860	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	860	ENSP00000364887:W860C;ENSP00000381167:W860C	ENSP00000364887:W860C	W	+	3	0	DYNC2H1	102519212	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.211000	0.95120	2.525000	0.85131	0.460000	0.39030	TGG	DYNC2H1	-	NULL	ENSG00000187240		0.279	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	241	0.00	0	G	XM_370652		103014002	103014002	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	missense	197	58.00	272	SNP	1.000	T
ELTD1	64123	genome.wustl.edu	37	1	79383583	79383583	+	Silent	SNP	A	A	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr1:79383583A>G	ENST00000370742.3	-	11	1677	c.1614T>C	c.(1612-1614)taT>taC	p.Y538Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	538					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.Y538Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTGGGCTTAGATAGCCAAAGA	0.383																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											132.0	129.0	130.0					1																	79383583		1838	4092	5930	-	-	-	SO:0001819	synonymous_variant	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1614T>C	1.37:g.79383583A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AR71|Q5KU34	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.Y538	ENST00000370742.3	37	c.1614	CCDS41352.1	1																																																																																			ELTD1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000162618		0.383	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	298	0.33	1	A	NM_022159		79383583	79383583	-1	no_errors	ENST00000370742	ensembl	human	known	69_37n	silent	44	79.15	167	SNP	0.996	G
ENTPD7	57089	genome.wustl.edu	37	10	101451204	101451204	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr10:101451204G>T	ENST00000370489.4	+	8	950	c.772G>T	c.(772-774)Gat>Tat	p.D258Y		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	258						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D258Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		AGGGATACTGGATATGGGAGG	0.438																																						dbGAP											1	Substitution - Missense(1)	breast(1)											117.0	108.0	111.0					10																	101451204		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.772G>T	10.37:g.101451204G>T	ENSP00000359520:p.Asp258Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.D258Y	ENST00000370489.4	37	c.772	CCDS7480.1	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519918	0.85495	.	.	ENSG00000198018	ENST00000370489	T	0.23552	1.9	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76945	-0.2771	10	0.87932	D	0	-18.1501	18.5851	0.91187	0.0:0.0:1.0:0.0	.	258	Q9NQZ7	ENTP7_HUMAN	Y	258	ENSP00000359520:D258Y	ENSP00000359520:D258Y	D	+	1	0	ENTPD7	101441194	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.851000	0.92205	2.626000	0.88956	0.655000	0.94253	GAT	ENTPD7	-	pfam_GDA1_CD39_NTPase	ENSG00000198018		0.438	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD7	HGNC	protein_coding	OTTHUMT00000049809.2	101	0.00	0	G	NM_020354		101451204	101451204	+1	no_errors	ENST00000370489	ensembl	human	known	69_37n	missense	67	54.97	83	SNP	1.000	T
EPB41L3	23136	genome.wustl.edu	37	18	5406867	5406867	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr18:5406867T>C	ENST00000341928.2	-	16	2598	c.2258A>G	c.(2257-2259)aAt>aGt	p.N753S	EPB41L3_ENST00000427684.2_Missense_Mutation_p.N25S|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N753S|EPB41L3_ENST00000540638.2_Missense_Mutation_p.N572S|EPB41L3_ENST00000400111.3_Missense_Mutation_p.N572S|EPB41L3_ENST00000544123.1_Missense_Mutation_p.N584S|EPB41L3_ENST00000542146.1_Missense_Mutation_p.N25S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	753	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.N753S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCCCATTCATTCGTTACGGC	0.502																																						dbGAP											1	Substitution - Missense(1)	breast(1)											196.0	157.0	170.0					18																	5406867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2258A>G	18.37:g.5406867T>C	ENSP00000343158:p.Asn753Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.N753S	ENST00000341928.2	37	c.2258	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	T	8.463	0.855816	0.17106	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;D	0.81579	-1.39;-1.48;-0.03;-0.07;-1.39;-1.51	5.78	5.78	0.91487	SAB (1);	0.136960	0.64402	D	0.000003	T	0.79435	0.4445	N	0.20807	0.61	0.36473	D	0.867355	D;B;B;B;P;B;B;B	0.61697	0.99;0.058;0.204;0.053;0.454;0.274;0.003;0.243	D;B;B;B;B;B;B;B	0.72982	0.979;0.052;0.084;0.206;0.266;0.135;0.021;0.067	T	0.77890	-0.2419	10	0.15952	T	0.53	.	10.449	0.44511	0.0:0.0722:0.0:0.9278	.	584;25;25;145;463;572;753;25	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	S	753;463;584;463;25;25;753;572	ENSP00000343158:N753S;ENSP00000441174:N584S;ENSP00000392195:N25S;ENSP00000442233:N25S;ENSP00000341138:N753S;ENSP00000382981:N572S	ENSP00000343158:N753S	N	-	2	0	EPB41L3	5396867	1.000000	0.71417	0.364000	0.25888	0.257000	0.26127	4.165000	0.58196	2.220000	0.72140	0.533000	0.62120	AAT	EPB41L3	-	pirsf_Band_41_protein,pfam_SAB	ENSG00000082397		0.502	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	129	0.00	0	T	NM_012307		5406867	5406867	-1	no_errors	ENST00000341928	ensembl	human	known	69_37n	missense	61	15.28	11	SNP	0.857	C
FAM111A	63901	genome.wustl.edu	37	11	58919851	58919853	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	ATG	ATG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr11:58919851_58919853delATG	ENST00000528737.1	+	5	3528_3530	c.710_712delATG	c.(709-714)aatgat>aat	p.D239del	FAM111A_ENST00000420244.1_In_Frame_Del_p.D239del|FAM111A_ENST00000533703.1_In_Frame_Del_p.D239del|FAM111A_ENST00000361723.3_In_Frame_Del_p.D239del|FAM111A_ENST00000531147.1_In_Frame_Del_p.D239del			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	239					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.D239delD(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTTCTGGAGAATGATGATTGGAA	0.409																																						dbGAP											1	Deletion - In frame(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.710_712delATG	11.37:g.58919854_58919856delATG	ENSP00000434435:p.Asp239del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	In_Frame_Del	DEL	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.D239in_frame_del	ENST00000528737.1	37	c.710_712	CCDS7973.1	11																																																																																			FAM111A	-	NULL	ENSG00000166801		0.409	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	318	0.00	0	ATG	NM_022074		58919851	58919853	+1	no_errors	ENST00000361723	ensembl	human	known	69_37n	in_frame_del	147	40.96	102	DEL	0.003:0.000:0.000	-
FASTKD1	79675	genome.wustl.edu	37	2	170393757	170393757	+	Missense_Mutation	SNP	G	G	C	rs201465952		TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr2:170393757G>C	ENST00000453153.2	-	12	2514	c.2168C>G	c.(2167-2169)aCg>aGg	p.T723R	FASTKD1_ENST00000453929.2_Missense_Mutation_p.T680R|FASTKD1_ENST00000495505.1_Intron	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	723					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.T723R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GTAATAAGGCGTAAGAACCGA	0.338																																						dbGAP											1	Substitution - Missense(1)	breast(1)											130.0	125.0	126.0					2																	170393757		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2168C>G	2.37:g.170393757G>C	ENSP00000400513:p.Thr723Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.T723R	ENST00000453153.2	37	c.2168	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321110	0.81580	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.57436	0.4;0.4	5.63	5.63	0.86233	FAST kinase-like protein, subdomain 2 (1);	0.043610	0.85682	D	0.000000	T	0.75243	0.3823	M	0.80422	2.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.98;0.988	T	0.77856	-0.2432	10	0.72032	D	0.01	-6.0954	18.6671	0.91495	0.0:0.0:1.0:0.0	.	680;723	Q53R41-2;Q53R41	.;FAKD1_HUMAN	R	723;680	ENSP00000400513:T723R;ENSP00000403229:T680R	ENSP00000400513:T723R	T	-	2	0	FASTKD1	170102003	1.000000	0.71417	0.846000	0.33378	0.848000	0.48234	8.653000	0.91088	2.658000	0.90341	0.491000	0.48974	ACG	FASTKD1	-	pfam_FAST_2	ENSG00000138399		0.338	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	187	0.00	0	G	NM_024622		170393757	170393757	-1	no_errors	ENST00000453153	ensembl	human	known	69_37n	missense	159	42.55	120	SNP	1.000	C
FASTKD3	79072	genome.wustl.edu	37	5	7867856	7867856	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr5:7867856T>A	ENST00000264669.5	-	2	477	c.341A>T	c.(340-342)gAa>gTa	p.E114V	MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	114					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.E114V(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACTTAGCACTTCTTCTGATGA	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											58.0	56.0	56.0					5																	7867856		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.341A>T	5.37:g.7867856T>A	ENSP00000264669:p.Glu114Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BVD3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.E114V	ENST00000264669.5	37	c.341	CCDS3873.1	5	.	.	.	.	.	.	.	.	.	.	T	34	5.339931	0.95783	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.30714	1.52;1.52;1.52	4.43	4.43	0.53597	.	0.460943	0.22380	N	0.060828	T	0.49490	0.1560	M	0.69823	2.125	0.42862	D	0.994117	D	0.65815	0.995	P	0.58721	0.844	T	0.55921	-0.8064	10	0.72032	D	0.01	-17.7932	13.8579	0.63540	0.0:0.0:0.0:1.0	.	114	Q14CZ7	FAKD3_HUMAN	V	114;114;97	ENSP00000264669:E114V;ENSP00000426008:E114V;ENSP00000422443:E97V	ENSP00000264669:E114V	E	-	2	0	FASTKD3	7920856	0.990000	0.36364	0.277000	0.24703	0.745000	0.42441	6.131000	0.71670	1.867000	0.54127	0.533000	0.62120	GAA	FASTKD3	-	NULL	ENSG00000124279		0.408	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	HGNC	protein_coding	OTTHUMT00000253673.1	148	0.00	0	T	NM_024091		7867856	7867856	-1	no_errors	ENST00000264669	ensembl	human	known	69_37n	missense	50	50.00	50	SNP	0.988	A
FBN3	84467	genome.wustl.edu	37	19	8130918	8130919	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr19:8130918_8130919delGT	ENST00000600128.1	-	64	8728_8729	c.8314_8315delAC	c.(8314-8316)accfs	p.T2772fs	FBN3_ENST00000270509.2_Frame_Shift_Del_p.T2772fs|FBN3_ENST00000601739.1_Frame_Shift_Del_p.T2772fs			Q75N90	FBN3_HUMAN	fibrillin 3	2772						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGCCGGTAGGTTCCAGGCCCC	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8314_8315delAC	19.37:g.8130918_8130919delGT	ENSP00000470498:p.Thr2772fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Del	DEL	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.T2772fs	ENST00000600128.1	37	c.8315_8314	CCDS12196.1	19																																																																																			FBN3	-	pirsf_Fibrillin	ENSG00000142449		0.673	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	18	0.00	0	GT	NM_032447		8130918	8130919	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	frame_shift_del	6	33.33	3	DEL	0.972:0.962	-
FBXO18	84893	genome.wustl.edu	37	10	5951233	5951233	+	Silent	SNP	C	C	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr10:5951233C>A	ENST00000362091.4	+	5	1111	c.996C>A	c.(994-996)ctC>ctA	p.L332L	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Silent_p.L383L	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	332					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.L383L(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGCAACACCTCCCCGACCTCT	0.607																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											54.0	51.0	52.0					10																	5951233		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.996C>A	10.37:g.5951233C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.L383	ENST00000362091.4	37	c.1149	CCDS7072.1	10																																																																																			FBXO18	-	NULL	ENSG00000134452		0.607	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	63	0.00	0	C	NM_032807		5951233	5951233	+1	no_errors	ENST00000379999	ensembl	human	known	69_37n	silent	50	25.37	17	SNP	0.161	A
FCGBP	8857	genome.wustl.edu	37	19	40392008	40392008	+	Missense_Mutation	SNP	G	G	A	rs201020361	byFrequency	TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr19:40392008G>A	ENST00000221347.6	-	17	8385	c.8378C>T	c.(8377-8379)gCc>gTc	p.A2793V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2793	Cys-rich.		A -> V (in dbSNP:rs2542316).			extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCATAGTAGGCACCATTGTG	0.572																																						dbGAP											0													70.0	66.0	67.0					19																	40392008		2159	4291	6450	-	-	-	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.8378C>T	19.37:g.40392008G>A	ENSP00000221347:p.Ala2793Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.A2793V	ENST00000221347.6	37	c.8378	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	g	0.607	-0.826706	0.02734	.	.	ENSG00000090920	ENST00000221347	T	0.04917	3.53	3.09	-1.93	0.07594	von Willebrand factor, type C (1);	1.741500	0.04278	N	0.343383	T	0.02888	0.0086	N	0.02142	-0.665	0.09310	N	1	B	0.20052	0.041	B	0.28139	0.086	T	0.44772	-0.9306	10	0.29301	T	0.29	.	5.9818	0.19411	0.2739:0.3423:0.3839:0.0	.	2793	Q9Y6R7	FCGBP_HUMAN	V	2793	ENSP00000221347:A2793V	ENSP00000221347:A2793V	A	-	2	0	FCGBP	45083848	0.000000	0.05858	0.283000	0.24790	0.081000	0.17604	-0.197000	0.09518	-0.531000	0.06340	-0.945000	0.02674	GCC	FCGBP	-	smart_VWC_out,smart_VWF_C	ENSG00000090920		0.572	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	43	0.00	0	G	NM_003890		40392008	40392008	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	25	10.71	3	SNP	0.014	A
FKBP15	23307	genome.wustl.edu	37	9	115983521	115983521	+	Start_Codon_SNP	SNP	C	C	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr9:115983521C>T	ENST00000238256.3	-	1	120	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC31A1_ENST00000374212.4_5'Flank|SLC31A1_ENST00000374210.6_5'Flank	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.M1I(1)|p.M26I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCGCACCGAACATTGCGTTGG	0.647																																						dbGAP											2	Substitution - Missense(2)	breast(2)											37.0	41.0	40.0					9																	115983521		1973	4160	6133	-	-	-	SO:0001582	initiator_codon_variant	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3G>A	9.37:g.115983521C>T	ENSP00000238256:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.M1I	ENST00000238256.3	37	c.3	CCDS48007.1	9	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996403	0.74818	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.38560	1.51;1.54;1.13	5.35	5.35	0.76521	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.80722	D	1	P;P;P	0.48294	0.908;0.775;0.851	B;B;B	0.40677	0.337;0.225;0.182	T	0.41716	-0.9493	8	0.87932	D	0	-17.0714	14.4328	0.67261	0.0:1.0:0.0:0.0	.	1;1;1	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	I	26;1;26	ENSP00000416158:M26I;ENSP00000238256:M1I;ENSP00000415733:M26I	ENSP00000238256:M1I	M	-	3	0	FKBP15	115023342	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.653000	0.54446	2.780000	0.95670	0.655000	0.94253	ATG	FKBP15	-	NULL	ENSG00000119321		0.647	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		10	0.00	0	C	NM_015258	Missense_Mutation	115983521	115983521	-1	no_errors	ENST00000238256	ensembl	human	known	69_37n	missense	2	81.82	9	SNP	1.000	T
FCN2	2220	genome.wustl.edu	37	9	137774483	137774483	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr9:137774483G>C	ENST00000291744.6	+	2	222	c.212G>C	c.(211-213)aGa>aCa	p.R71T	FCN2_ENST00000350339.2_Intron	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	71	Collagen-like.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)	p.R71T(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AATGGAAAGAGAGGTAGGTGC	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											42.0	48.0	46.0					9																	137774483		2203	4300	6503	-	-	-	SO:0001583	missense	0			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.212G>C	9.37:g.137774483G>C	ENSP00000291744:p.Arg71Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R71T	ENST00000291744.6	37	c.212	CCDS6983.1	9	.	.	.	.	.	.	.	.	.	.	G	6.988	0.552473	0.13374	.	.	ENSG00000160339	ENST00000291744	D	0.93488	-3.23	3.91	-1.82	0.07857	.	0.607098	0.13372	U	0.392866	D	0.86406	0.5925	L	0.39020	1.185	0.20489	N	0.999892	B	0.20368	0.044	B	0.24974	0.057	T	0.73480	-0.3969	10	0.32370	T	0.25	.	4.9644	0.14083	0.5272:0.1671:0.3057:0.0	.	71	Q15485	FCN2_HUMAN	T	71	ENSP00000291744:R71T	ENSP00000291744:R71T	R	+	2	0	FCN2	136914304	0.003000	0.15002	0.027000	0.17364	0.028000	0.11728	-0.667000	0.05274	-0.415000	0.07484	0.462000	0.41574	AGA	FCN2	-	pfam_Collagen	ENSG00000160339		0.617	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	HGNC	protein_coding	OTTHUMT00000054960.1	28	0.00	0	G	NM_004108		137774483	137774483	+1	no_errors	ENST00000291744	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	0.043	C
FUBP1	8880	genome.wustl.edu	37	1	78414864	78414864	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr1:78414864C>T	ENST00000370768.2	-	19	1983	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	FUBP1_ENST00000489495.1_5'Flank|FUBP1_ENST00000436586.2_Missense_Mutation_p.M655I|FUBP1_ENST00000370767.1_Missense_Mutation_p.M634I	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	634					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.M634I(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GATGCTGTGGCATTCCCTGGG	0.473			"""F, N"""		oligodendroglioma																																	dbGAP		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	1	Substitution - Missense(1)	breast(1)											117.0	117.0	117.0					1																	78414864		2203	4300	6503	-	-	-	SO:0001583	missense	0			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1902G>A	1.37:g.78414864C>T	ENSP00000359804:p.Met634Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12828	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.M655I	ENST00000370768.2	37	c.1965	CCDS683.1	1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778109	0.70107	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.30714	1.52;1.53;1.53	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.06110	-1.0845	10	0.25106	T	0.35	-11.0414	20.352	0.98815	0.0:1.0:0.0:0.0	.	655;634	B4DT31;Q96AE4	.;FUBP1_HUMAN	I	634;634;634;619;655	ENSP00000359803:M634I;ENSP00000359804:M634I;ENSP00000389536:M655I	ENSP00000294623:M633I	M	-	3	0	FUBP1	78187452	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.465000	0.80898	2.803000	0.96430	0.655000	0.94253	ATG	FUBP1	-	NULL	ENSG00000162613		0.473	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3	178	0.00	0	C	NM_003902		78414864	78414864	-1	no_errors	ENST00000436586	ensembl	human	known	69_37n	missense	18	80.16	101	SNP	1.000	T
FXYD5	53827	genome.wustl.edu	37	19	35655126	35655126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr19:35655126delC	ENST00000342879.3	+	5	1138	c.360delC	c.(358-360)gacfs	p.D120fs	FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000423817.3_Frame_Shift_Del_p.D120fs|FXYD5_ENST00000588699.1_Frame_Shift_Del_p.D120fs|FXYD5_ENST00000590686.1_Frame_Shift_Del_p.D120fs|FXYD5_ENST00000543307.1_Frame_Shift_Del_p.D120fs|FXYD5_ENST00000392217.3_Frame_Shift_Del_p.D49fs|FXYD5_ENST00000541435.2_Frame_Shift_Del_p.D120fs|FXYD5_ENST00000392219.2_Frame_Shift_Del_p.D120fs			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	120					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCCAGACAGACCCCCAGACCC	0.552																																						dbGAP											0													183.0	154.0	164.0					19																	35655126		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.360delC	19.37:g.35655126delC	ENSP00000344254:p.Asp120fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNZ8|Q6UW44|Q9HC34|Q9P039	Frame_Shift_Del	DEL	pfam_Ion-transport_regulator_FXYD	p.Q122fs	ENST00000342879.3	37	c.360	CCDS12447.1	19																																																																																			FXYD5	-	NULL	ENSG00000089327		0.552	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXYD5	HGNC	protein_coding	OTTHUMT00000109443.1	131	0.00	0	C	NM_014164		35655126	35655126	+1	no_errors	ENST00000342879	ensembl	human	known	69_37n	frame_shift_del	58	35.48	33	DEL	0.002	-
GDF3	9573	genome.wustl.edu	37	12	7842748	7842748	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:7842748C>T	ENST00000329913.3	-	2	868	c.821G>A	c.(820-822)cGg>cAg	p.R274Q		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	274			R -> W (in MCOPCB6). {ECO:0000269|PubMed:19864492}.		endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.R274Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACCCAGGTCCCGGAAGTTAAT	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											72.0	70.0	71.0					12																	7842748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.821G>A	12.37:g.7842748C>T	ENSP00000331745:p.Arg274Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEJ4	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.R274Q	ENST00000329913.3	37	c.821	CCDS8581.1	12	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234512	0.22626	.	.	ENSG00000184344	ENST00000329913	T	0.76968	-1.06	4.61	-0.919	0.10478	Transforming growth factor-beta, C-terminal (3);	0.531671	0.21147	N	0.079391	T	0.59293	0.2183	L	0.28192	0.835	0.20307	N	0.999912	B	0.28233	0.204	B	0.20184	0.028	T	0.41928	-0.9481	10	0.21014	T	0.42	.	11.2166	0.48830	0.0:0.5398:0.0:0.4602	.	274	Q9NR23	GDF3_HUMAN	Q	274	ENSP00000331745:R274Q	ENSP00000331745:R274Q	R	-	2	0	GDF3	7734015	0.000000	0.05858	0.984000	0.44739	0.843000	0.47879	-0.392000	0.07314	-0.391000	0.07763	-1.267000	0.01435	CGG	GDF3	-	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	ENSG00000184344		0.532	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF3	HGNC	protein_coding	OTTHUMT00000399717.1	122	0.00	0	C			7842748	7842748	-1	no_errors	ENST00000329913	ensembl	human	known	69_37n	missense	241	34.24	126	SNP	0.891	T
GALNT9	50614	genome.wustl.edu	37	12	132685675	132685675	+	Silent	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:132685675G>A	ENST00000328957.8	-	8	1394	c.1395C>T	c.(1393-1395)taC>taT	p.Y465Y	GALNT9_ENST00000541995.1_Silent_p.Y99Y|GALNT9_ENST00000397325.2_Silent_p.Y99Y|GALNT9_ENST00000535228.1_Silent_p.Y216Y	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	465	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 membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Y465Y(1)|p.Y99Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CTACCTCTCCGTACGTGAGGG	0.607																																					Colon(186;2147 2752 13553 41466)	dbGAP											2	Substitution - coding silent(2)	breast(2)											68.0	84.0	79.0					12																	132685675		2136	4233	6369	-	-	-	SO:0001819	synonymous_variant	0			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1395C>T	12.37:g.132685675G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R238W	ENST00000328957.8	37	c.712		12	.	.	.	.	.	.	.	.	.	.	g	9.247	1.039730	0.19669	.	.	ENSG00000182870	ENST00000411988	.	.	.	4.39	2.18	0.27775	.	.	.	.	.	T	0.53948	0.1828	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46665	-0.9175	4	.	.	.	.	6.0544	0.19802	0.5103:0.0:0.4897:0.0	.	.	.	.	W	238	.	.	R	-	1	2	GALNT9	131251628	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.029000	0.30140	0.813000	0.34350	0.462000	0.41574	CGG	GALNT9	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000182870		0.607	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	HGNC	protein_coding	OTTHUMT00000402967.1	40	0.00	0	G	NM_001122636		132685675	132685675	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000411988	ensembl	human	novel	69_37n	missense	3	57.14	4	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	89949195	89949195	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr5:89949195C>A	ENST00000405460.2	+	20	3900	c.3804C>A	c.(3802-3804)aaC>aaA	p.N1268K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1268					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N1268K(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATTACCAACTTCACCATTT	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											113.0	107.0	109.0					5																	89949195		1972	4153	6125	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3804C>A	5.37:g.89949195C>A	ENSP00000384582:p.Asn1268Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.N1268K	ENST00000405460.2	37	c.3804	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.31|11.31	1.601119|1.601119	0.28534|0.28534	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.27104	.|1.69	5.84|5.84	3.11|3.11	0.35812|0.35812	.|.	.|0.330409	.|0.40385	.|N	.|0.001101	T|T	0.19927|0.19927	0.0479|0.0479	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|P	.|0.41041	.|0.736	.|B	.|0.27500	.|0.08	T|T	0.03221|0.03221	-1.1059|-1.1059	5|10	.|0.56958	.|D	.|0.05	.|.	11.795|11.795	0.52093|0.52093	0.0:0.8075:0.0:0.1925|0.0:0.8075:0.0:0.1925	.|.	.|1268	.|Q8WXG9	.|GPR98_HUMAN	I|K	857|1268	.|ENSP00000384582:N1268K	.|ENSP00000296619:N1268K	L|N	+|+	1|3	0|2	GPR98|GPR98	89984951|89984951	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.376000|0.376000	0.30014|0.30014	1.385000|1.385000	0.34408|0.34408	0.473000|0.473000	0.27368|0.27368	-0.154000|-0.154000	0.13518|0.13518	CTT|AAC	GPR98	-	NULL	ENSG00000164199		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	134	0.00	0	C	NM_032119		89949195	89949195	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	15	80.26	61	SNP	1.000	A
GRM5	2915	genome.wustl.edu	37	11	88780577	88780577	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr11:88780577G>A	ENST00000305447.4	-	1	613	c.464C>T	c.(463-465)gCc>gTc	p.A155V	GRM5_ENST00000305432.5_Missense_Mutation_p.A155V|GRM5_ENST00000393297.1_Missense_Mutation_p.A155V|GRM5_ENST00000393294.3_Missense_Mutation_p.A155V|GRM5_ENST00000418177.2_Missense_Mutation_p.A155V|GRM5_ENST00000455756.2_Missense_Mutation_p.A155V	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	155					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A155V(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GACCTGAATGGCTACAGAACT	0.498																																						dbGAP											2	Substitution - Missense(2)	breast(2)											59.0	54.0	56.0					11																	88780577		2201	4299	6500	-	-	-	SO:0001583	missense	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.464C>T	11.37:g.88780577G>A	ENSP00000306138:p.Ala155Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1	p.A155V	ENST00000305447.4	37	c.464	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917235	0.92249	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	L	0.52206	1.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.965;0.979;0.994	D	0.89270	0.3604	9	.	.	.	.	19.1788	0.93614	0.0:0.0:1.0:0.0	.	155;155;155	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	V	155	ENSP00000402912:A155V;ENSP00000405690:A155V;ENSP00000305905:A155V;ENSP00000306138:A155V;ENSP00000376975:A155V;ENSP00000376972:A155V	.	A	-	2	0	GRM5	88420225	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.699000	0.98703	2.514000	0.84764	0.563000	0.77884	GCC	GRM5	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3	ENSG00000168959		0.498	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	129	0.00	0	G	NM_000842		88780577	88780577	-1	no_errors	ENST00000305447	ensembl	human	known	69_37n	missense	143	23.53	44	SNP	1.000	A
GZMA	3001	genome.wustl.edu	37	5	54398559	54398559	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr5:54398559T>C	ENST00000274306.6	+	1	84	c.49T>C	c.(49-51)Tct>Cct	p.S17P		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	17					apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.S17P(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGTTGTCGTTTCTCTCCTGCT	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											202.0	179.0	187.0					5																	54398559		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.49T>C	5.37:g.54398559T>C	ENSP00000274306:p.Ser17Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4PHN1|Q6IB36	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S17P	ENST00000274306.6	37	c.49	CCDS3965.1	5	.	.	.	.	.	.	.	.	.	.	T	6.565	0.472464	0.12461	.	.	ENSG00000145649	ENST00000274306	D	0.89552	-2.53	5.0	5.0	0.66597	Peptidase cysteine/serine, trypsin-like (1);	0.629622	0.16310	N	0.220057	T	0.78672	0.4320	N	0.14661	0.345	0.09310	N	0.999996	B	0.12013	0.005	B	0.04013	0.001	T	0.66348	-0.5946	10	0.38643	T	0.18	.	8.9104	0.35550	0.0:0.0:0.1882:0.8118	.	17	P12544	GRAA_HUMAN	P	17	ENSP00000274306:S17P	ENSP00000274306:S17P	S	+	1	0	GZMA	54434316	0.999000	0.42202	0.943000	0.38184	0.063000	0.16089	3.601000	0.54059	2.101000	0.63845	0.533000	0.62120	TCT	GZMA	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000145649		0.393	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMA	HGNC	protein_coding	OTTHUMT00000214100.2	191	0.00	0	T	NM_006144		54398559	54398559	+1	no_errors	ENST00000274306	ensembl	human	known	69_37n	missense	116	41.41	82	SNP	0.812	C
HEPHL1	341208	genome.wustl.edu	37	11	93839282	93839282	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr11:93839282A>G	ENST00000315765.9	+	17	3039	c.3031A>G	c.(3031-3033)Agc>Ggc	p.S1011G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1011	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.S1015G(1)|p.S1015C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCATGCTGAGAGCTTTCTTTT	0.363																																						dbGAP											2	Substitution - Missense(2)	ovary(1)|breast(1)											131.0	129.0	130.0					11																	93839282		1880	4113	5993	-	-	-	SO:0001583	missense	0			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3031A>G	11.37:g.93839282A>G	ENSP00000313699:p.Ser1011Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3C1W7	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.S1011G	ENST00000315765.9	37	c.3031	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876216	0.72180	.	.	ENSG00000181333	ENST00000315765	D	0.99704	-6.46	5.95	4.81	0.61882	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.079544	0.85682	D	0.000000	D	0.99560	0.9842	M	0.77616	2.38	0.34123	D	0.664382	D	0.76494	0.999	D	0.71656	0.974	D	0.98974	1.0802	10	0.48119	T	0.1	-15.9233	12.3335	0.55054	0.9331:0.0:0.0669:0.0	.	1011	Q6MZM0	HPHL1_HUMAN	G	1011	ENSP00000313699:S1011G	ENSP00000313699:S1011G	S	+	1	0	HEPHL1	93478930	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.949000	0.75971	2.279000	0.76181	0.533000	0.62120	AGC	HEPHL1	-	pfam_Cu-oxidase_2,superfamily_Cupredoxin	ENSG00000181333		0.363	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	316	0.00	0	A	XM_291947		93839282	93839282	+1	no_errors	ENST00000315765	ensembl	human	known	69_37n	missense	221	56.67	289	SNP	1.000	G
ZNRD1-AS1	80862	genome.wustl.edu	37	6	29974685	29974685	+	RNA	SNP	A	A	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr6:29974685A>G	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GTGCGGGTCGACAGTGACGCC	0.662																																						dbGAP											0																																										-	-	-			0			AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29974685A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000376797.3	37	NULL		6																																																																																			HLA-J	-	-	ENSG00000204622		0.662	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	HLA-J	HGNC	antisense	OTTHUMT00000253083.1	17	0.00	0	A	NR_026751		29974685	29974685	+1	no_errors	ENST00000462773	ensembl	human	known	69_37n	rna	8	42.86	6	SNP	1.000	G
HPSE2	60495	genome.wustl.edu	37	10	100904059	100904059	+	Silent	SNP	A	A	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr10:100904059A>G	ENST00000370552.3	-	3	605	c.546T>C	c.(544-546)gcT>gcC	p.A182A	HPSE2_ENST00000370549.1_Silent_p.A182A|HPSE2_ENST00000370546.1_Silent_p.A182A|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	182					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.A182A(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GATGCATCTGAGCTGCCTTCT	0.423																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											116.0	112.0	113.0					10																	100904059		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.546T>C	10.37:g.100904059A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.A182	ENST00000370552.3	37	c.546	CCDS7477.1	10																																																																																			HPSE2	-	superfamily_Glycoside_hydrolase_SF	ENSG00000172987		0.423	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	293	0.00	0	A	NM_021828		100904059	100904059	-1	no_errors	ENST00000370552	ensembl	human	known	69_37n	silent	239	28.66	96	SNP	1.000	G
IGSF8	93185	genome.wustl.edu	37	1	160062779	160062779	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr1:160062779C>T	ENST00000368086.1	-	4	1463	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.G416E			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	416	Ig-like C2-type 3.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G416E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AAGCCGGGTCCCAGACCCTCG	0.657																																						dbGAP											1	Substitution - Missense(1)	breast(1)											40.0	46.0	44.0					1																	160062779		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1247G>A	1.37:g.160062779C>T	ENSP00000357065:p.Gly416Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.G416E	ENST00000368086.1	37	c.1247	CCDS1195.1	1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102901	0.37145	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475	T;T	0.05717	3.4;3.4	3.17	3.17	0.36434	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.000000	0.34652	U	0.003786	T	0.08626	0.0214	L	0.50333	1.59	0.44816	D	0.997829	D	0.89917	1.0	D	0.74348	0.983	T	0.20806	-1.0264	10	0.29301	T	0.29	-15.6721	10.1048	0.42526	0.0:0.793:0.207:0.0	.	416	Q969P0	IGSF8_HUMAN	E	416	ENSP00000316664:G416E;ENSP00000357065:G416E	ENSP00000316664:G416E	G	-	2	0	IGSF8	158329403	0.993000	0.37304	1.000000	0.80357	0.651000	0.38670	1.908000	0.39907	1.589000	0.49982	0.313000	0.20887	GGG	IGSF8	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000162729		0.657	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF8	HGNC	protein_coding	OTTHUMT00000060636.1	113	0.00	0	C	NM_052868		160062779	160062779	-1	no_errors	ENST00000314485	ensembl	human	known	69_37n	missense	19	48.65	18	SNP	0.994	T
IL17RB	55540	genome.wustl.edu	37	3	53892827	53892827	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr3:53892827C>T	ENST00000288167.3	+	9	838	c.829C>T	c.(829-831)Cct>Tct	p.P277S	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	277					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)	p.P277S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AACAGGCGTCCCTTTCCCTCT	0.502																																						dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	77.0	80.0					3																	53892827		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.829C>T	3.37:g.53892827C>T	ENSP00000288167:p.Pro277Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	pfam_SEFIR	p.P277S	ENST00000288167.3	37	c.829	CCDS2874.1	3	.	.	.	.	.	.	.	.	.	.	C	5.548	0.285905	0.10513	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.14022	3.27;2.54	4.4	-1.31	0.09230	.	0.582345	0.15535	N	0.257283	T	0.04048	0.0113	N	0.02916	-0.46	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.34675	-0.9819	10	0.32370	T	0.25	-0.9006	3.1154	0.06372	0.1461:0.595:0.1437:0.1153	.	277	Q9NRM6	I17RB_HUMAN	S	277;261	ENSP00000288167:P277S;ENSP00000418638:P261S	ENSP00000288167:P277S	P	+	1	0	IL17RB	53867867	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.000000	0.12993	-0.255000	0.09486	-0.181000	0.13052	CCT	IL17RB	-	NULL	ENSG00000056736		0.502	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RB	HGNC	protein_coding	OTTHUMT00000350563.1	73	0.00	0	C	NM_172234		53892827	53892827	+1	no_errors	ENST00000288167	ensembl	human	known	69_37n	missense	4	76.47	13	SNP	0.000	T
ITGAV	3685	genome.wustl.edu	37	2	187540546	187540546	+	Splice_Site	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr2:187540546G>T	ENST00000261023.3	+	28	3094		c.e28-1		ITGAV_ENST00000433736.2_Splice_Site|ITGAV_ENST00000374907.3_Splice_Site|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V						angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TTTCCAAACAGAAAGAAAATC	0.333																																					Melanoma(58;108 1995 6081)	dbGAP											1	Unknown(1)	breast(1)											60.0	61.0	60.0					2																	187540546		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2821-1G>T	2.37:g.187540546G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Splice_Site	SNP	-	e28-1	ENST00000261023.3	37	c.2821-1	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817201	0.50633	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736;ENST00000430709	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6798	0.85289	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGAV	187248791	1.000000	0.71417	0.989000	0.46669	0.596000	0.36781	7.918000	0.87506	2.616000	0.88540	0.563000	0.77884	.	ITGAV	-	-	ENSG00000138448		0.333	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	67	0.00	0	G	NM_002210	Intron	187540546	187540546	+1	no_errors	ENST00000261023	ensembl	human	known	69_37n	splice_site	126	30.39	55	SNP	1.000	T
KCNU1	157855	genome.wustl.edu	37	8	36768470	36768470	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr8:36768470A>T	ENST00000399881.3	+	22	2391	c.2354A>T	c.(2353-2355)gAc>gTc	p.D785V		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	785					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.D785V(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TATTCTGGAGACCTCCATGCG	0.522																																						dbGAP											2	Substitution - Missense(2)	breast(2)											91.0	96.0	94.0					8																	36768470		2000	4176	6176	-	-	-	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2354A>T	8.37:g.36768470A>T	ENSP00000382770:p.Asp785Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.D785V	ENST00000399881.3	37	c.2354	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765215	0.49574	.	.	ENSG00000215262	ENST00000399881	T	0.60040	0.22	5.67	5.67	0.87782	.	0.000000	0.39210	U	0.001426	T	0.77579	0.4151	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81250	-0.1018	10	0.87932	D	0	-20.83	14.1503	0.65378	1.0:0.0:0.0:0.0	.	785	A8MYU2	KCNU1_HUMAN	V	785	ENSP00000382770:D785V	ENSP00000382770:D785V	D	+	2	0	KCNU1	36887628	1.000000	0.71417	0.305000	0.25099	0.009000	0.06853	6.821000	0.75272	2.164000	0.68074	0.533000	0.62120	GAC	KCNU1	-	NULL	ENSG00000215262		0.522	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	149	0.00	0	A	NM_001031836		36768470	36768470	+1	no_errors	ENST00000399881	ensembl	human	known	69_37n	missense	105	35.67	61	SNP	1.000	T
KCNS2	3788	genome.wustl.edu	37	8	99441462	99441462	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr8:99441462C>T	ENST00000287042.4	+	2	1605	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	KCNS2_ENST00000521839.1_Missense_Mutation_p.R419C	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	419					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R419C(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTTTTACCGGCGCCAAAAGCA	0.512																																					Pancreas(138;844 2489 9202 24627)	dbGAP											1	Substitution - Missense(1)	breast(1)											117.0	116.0	116.0					8																	99441462		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1255C>T	8.37:g.99441462C>T	ENSP00000287042:p.Arg419Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAN1	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2	p.R419C	ENST00000287042.4	37	c.1255	CCDS6279.1	8	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207281	0.39003	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96967	-4.19;-4.19	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	L	0.42245	1.32	0.54753	D	0.999982	D	0.76494	0.999	P	0.48677	0.586	D	0.95816	0.8845	10	0.87932	D	0	.	18.8245	0.92111	0.0:1.0:0.0:0.0	.	419	Q9ULS6	KCNS2_HUMAN	C	419	ENSP00000287042:R419C;ENSP00000430712:R419C	ENSP00000287042:R419C	R	+	1	0	KCNS2	99510638	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.061000	0.57485	2.884000	0.98904	0.655000	0.94253	CGC	KCNS2	-	prints_K_chnl_volt-dep_Kv2	ENSG00000156486		0.512	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS2	HGNC	protein_coding	OTTHUMT00000103134.1	175	0.00	0	C	NM_020697		99441462	99441462	+1	no_errors	ENST00000287042	ensembl	human	known	69_37n	missense	26	42.22	19	SNP	1.000	T
KDM5A	5927	genome.wustl.edu	37	12	493214	493214	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:493214G>T	ENST00000399788.2	-	3	711	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	KDM5A_ENST00000382815.4_Missense_Mutation_p.L117M	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	117	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L117M(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AAAGCATACAGATCCAGGATT	0.393			T	NUP98	AML																																	dbGAP		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	2	Substitution - Missense(2)	breast(2)											150.0	147.0	148.0					12																	493214		1825	4088	5913	-	-	-	SO:0001583	missense	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.349C>A	12.37:g.493214G>T	ENSP00000382688:p.Leu117Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.L117M	ENST00000399788.2	37	c.349	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604409	0.66445	.	.	ENSG00000073614	ENST00000399788;ENST00000382815;ENST00000536014;ENST00000543507	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.38	3.53	0.40419	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.64402	D	0.000002	D	0.90724	0.7089	M	0.94021	3.485	0.48135	D	0.999597	D;D	0.89917	1.0;0.999	D;D	0.97110	0.999;1.0	D	0.90023	0.4129	10	0.87932	D	0	-8.1736	8.5742	0.33587	0.2376:0.0:0.7624:0.0	.	117;117	P29375;P29375-2	KDM5A_HUMAN;.	M	117;117;98;126	ENSP00000382688:L117M;ENSP00000372265:L117M;ENSP00000438203:L98M;ENSP00000444251:L126M	ENSP00000372265:L117M	L	-	1	2	KDM5A	363475	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.670000	0.54569	0.624000	0.30286	0.557000	0.71058	CTG	KDM5A	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	ENSG00000073614		0.393	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	271	0.00	0	G	NM_005056		493214	493214	-1	no_errors	ENST00000399788	ensembl	human	known	69_37n	missense	213	26.30	76	SNP	1.000	T
KDM2B	84678	genome.wustl.edu	37	12	121878934	121878934	+	Silent	SNP	G	G	T	rs376570260		TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:121878934G>T	ENST00000377071.4	-	20	3459	c.3387C>A	c.(3385-3387)ctC>ctA	p.L1129L	KDM2B_ENST00000377069.4_Silent_p.L1060L|KDM2B_ENST00000542973.1_Silent_p.L497L|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1129					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.L1129L(1)|p.L768L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCTGAGGTCGAGGGAGACGG	0.607																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											51.0	55.0	54.0					12																	121878934		2075	4211	6286	-	-	-	SO:0001819	synonymous_variant	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3387C>A	12.37:g.121878934G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L1129	ENST00000377071.4	37	c.3387	CCDS41850.1	12																																																																																			KDM2B	-	NULL	ENSG00000089094		0.607	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	54	0.00	0	G	NM_032590		121878934	121878934	-1	no_errors	ENST00000377071	ensembl	human	known	69_37n	silent	9	40.00	6	SNP	0.984	T
KIR3DL1	3811	genome.wustl.edu	37	19	55350924	55350924	+	Intron	SNP	A	A	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr19:55350924A>G	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.T138A(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GCCGGGCCCCACGGTTCAGGC	0.587																																						dbGAP											1	Substitution - Missense(1)	breast(1)											102.0	117.0	112.0					19																	55350924		2168	4145	6313	-	-	-	SO:0001627	intron_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+14391A>G	19.37:g.55350924A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O43473|Q14946|Q16541	Missense_Mutation	SNP	NULL	p.T138A	ENST00000402254.2	37	c.412		19																																																																																			KIR2DS4	-	NULL	ENSG00000221957		0.587	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	KIR2DS4	HGNC	protein_coding		1116	0.52	6	A	NM_013289		55350924	55350924	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000339924	ensembl	human	known	69_37n	missense	537	40.02	377	SNP	0.000	G
LEPREL1	55214	genome.wustl.edu	37	3	189711948	189711948	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr3:189711948C>A	ENST00000319332.5	-	3	955	c.758G>T	c.(757-759)gGg>gTg	p.G253V	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G72V	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	253					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.G253V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCTGAGGCCCCTCACATAG	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											77.0	77.0	77.0					3																	189711948		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.758G>T	3.37:g.189711948C>A	ENSP00000316881:p.Gly253Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.G253V	ENST00000319332.5	37	c.758	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754272	0.89843	.	.	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.96	5.96	0.96718	.	0.149417	0.64402	D	0.000013	D	0.86768	0.6012	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.85807	0.1377	9	.	.	.	-24.6696	19.3889	0.94570	0.0:1.0:0.0:0.0	.	253	Q8IVL5	P3H2_HUMAN	V	253;72;72;72	ENSP00000316881:G253V;ENSP00000408947:G72V;ENSP00000391374:G72V;ENSP00000394326:G72V	.	G	-	2	0	LEPREL1	191194642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.162000	0.77515	2.826000	0.97356	0.655000	0.94253	GGG	LEPREL1	-	NULL	ENSG00000090530		0.388	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	144	0.00	0	C	NM_018192		189711948	189711948	-1	no_errors	ENST00000319332	ensembl	human	known	69_37n	missense	190	31.16	86	SNP	1.000	A
LPIN3	64900	genome.wustl.edu	37	20	39980756	39980756	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr20:39980756G>A	ENST00000373257.3	+	9	1350	c.1259G>A	c.(1258-1260)aGg>aAg	p.R420K		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	420					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.R420K(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AAGTCCCTGAGGGACCCCAAC	0.577																																						dbGAP											1	Substitution - Missense(1)	breast(1)											120.0	111.0	114.0					20																	39980756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1259G>A	20.37:g.39980756G>A	ENSP00000362354:p.Arg420Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.R420K	ENST00000373257.3	37	c.1259	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	G	5.124	0.208457	0.09757	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	T	0.79454	-1.27	4.13	0.791	0.18619	.	0.389378	0.24642	N	0.036785	T	0.55832	0.1945	N	0.22421	0.69	0.09310	N	1	B;B	0.18741	0.03;0.023	B;B	0.25614	0.062;0.01	T	0.26224	-1.0109	9	.	.	.	-7.0482	0.9631	0.01399	0.2208:0.1762:0.4227:0.1803	.	421;420	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	K	420;84	ENSP00000362354:R420K	.	R	+	2	0	LPIN3	39414170	0.002000	0.14202	0.188000	0.23233	0.483000	0.33249	0.794000	0.26958	0.490000	0.27771	0.563000	0.77884	AGG	LPIN3	-	NULL	ENSG00000132793		0.577	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	164	0.00	0	G	NM_022896		39980756	39980756	+1	no_errors	ENST00000373257	ensembl	human	known	69_37n	missense	51	43.33	39	SNP	0.000	A
LRRCC1	85444	genome.wustl.edu	37	8	86053669	86053669	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr8:86053669G>C	ENST00000360375.3	+	18	3042	c.2893G>C	c.(2893-2895)Gat>Cat	p.D965H	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D945H	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	965					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D945H(1)|p.D965H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAGACAAGTTGATGCAATTGT	0.328																																						dbGAP											2	Substitution - Missense(2)	breast(2)											88.0	85.0	86.0					8																	86053669		1857	4106	5963	-	-	-	SO:0001583	missense	0			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2893G>C	8.37:g.86053669G>C	ENSP00000353538:p.Asp965His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin	p.D965H	ENST00000360375.3	37	c.2893	CCDS43750.1	8	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504103	0.64410	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.32753	1.44;1.44	5.17	3.36	0.38483	.	0.354098	0.20625	N	0.088681	T	0.39655	0.1086	L	0.50333	1.59	0.40827	D	0.983555	P;P;P	0.49559	0.925;0.925;0.898	P;P;B	0.53593	0.592;0.73;0.372	T	0.25984	-1.0116	10	0.72032	D	0.01	-11.2039	10.7517	0.46213	0.0718:0.1323:0.7959:0.0	.	945;872;965	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	H	965;945	ENSP00000353538:D965H;ENSP00000394695:D945H	ENSP00000353538:D965H	D	+	1	0	LRRCC1	86240921	1.000000	0.71417	0.812000	0.32479	0.995000	0.86356	4.479000	0.60236	0.679000	0.31345	0.585000	0.79938	GAT	LRRCC1	-	superfamily_Prefoldin	ENSG00000133739		0.328	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRCC1	HGNC	protein_coding	OTTHUMT00000380267.1	73	0.00	0	G	NM_033402		86053669	86053669	+1	no_errors	ENST00000360375	ensembl	human	known	69_37n	missense	44	38.89	28	SNP	0.991	C
MAP1A	4130	genome.wustl.edu	37	15	43818728	43818728	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr15:43818728G>C	ENST00000300231.5	+	4	5507	c.5057G>C	c.(5056-5058)aGa>aCa	p.R1686T	MAP1A_ENST00000382031.1_Missense_Mutation_p.R1924T|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1686T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1686					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.R1686T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGGAGGGGCAGAGAGGATGTG	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											53.0	63.0	60.0					15																	43818728		2023	4183	6206	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5057G>C	15.37:g.43818728G>C	ENSP00000300231:p.Arg1686Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.R1686T	ENST00000300231.5	37	c.5057	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	10.24	1.297037	0.23650	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01584	4.75;4.75;4.75	4.7	1.59	0.23543	.	.	.	.	.	T	0.05044	0.0135	L	0.34521	1.04	0.19300	N	0.999978	D	0.61080	0.989	D	0.75020	0.985	T	0.41698	-0.9494	9	0.59425	D	0.04	-1.9674	11.0427	0.47840	0.0766:0.2577:0.6656:0.0	.	1686	P78559	MAP1A_HUMAN	T	1924;1686;1686	ENSP00000371462:R1924T;ENSP00000382380:R1686T;ENSP00000300231:R1686T	ENSP00000300231:R1686T	R	+	2	0	MAP1A	41606020	0.004000	0.15560	0.979000	0.43373	0.922000	0.55478	0.921000	0.28718	0.580000	0.29522	0.563000	0.77884	AGA	MAP1A	-	NULL	ENSG00000166963		0.597	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	111	0.00	0	G	NM_002373		43818728	43818728	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	14	83.72	72	SNP	0.039	C
MAP3K5	4217	genome.wustl.edu	37	6	137019731	137019731	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr6:137019731C>G	ENST00000359015.4	-	4	1062	c.702G>C	c.(700-702)ttG>ttC	p.L234F		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	234					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.L234F(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGAGCTCTGTCAACCCCTTCA	0.463																																						dbGAP											1	Substitution - Missense(1)	breast(1)											142.0	122.0	129.0					6																	137019731		2203	4300	6503	-	-	-	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.702G>C	6.37:g.137019731C>G	ENSP00000351908:p.Leu234Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L234F	ENST00000359015.4	37	c.702	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980217	0.53827	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.10005	2.92	5.54	3.74	0.42951	.	0.070999	0.56097	D	0.000039	T	0.10937	0.0267	L	0.58101	1.795	0.80722	D	1	D;D;D	0.63880	0.98;0.993;0.993	D;D;P	0.63877	0.914;0.919;0.883	T	0.13872	-1.0493	10	0.24483	T	0.36	.	6.5921	0.22651	0.0:0.5535:0.2629:0.1836	.	314;79;234	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	F	234;314	ENSP00000351908:L234F	ENSP00000351908:L234F	L	-	3	2	MAP3K5	137061424	1.000000	0.71417	0.283000	0.24790	0.987000	0.75469	1.326000	0.33735	0.687000	0.31509	0.655000	0.94253	TTG	MAP3K5	-	NULL	ENSG00000197442		0.463	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	141	0.00	0	C			137019731	137019731	-1	no_errors	ENST00000359015	ensembl	human	known	69_37n	missense	89	44.03	70	SNP	1.000	G
MAP3K8	1326	genome.wustl.edu	37	10	30728142	30728142	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr10:30728142C>G	ENST00000263056.1	+	3	971	c.275C>G	c.(274-276)tCc>tGc	p.S92C	MAP3K8_ENST00000375322.2_Missense_Mutation_p.S92C|MAP3K8_ENST00000375321.1_Missense_Mutation_p.S92C|MAP3K8_ENST00000542547.1_Missense_Mutation_p.S92C	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	92					cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.S92C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AACCATATATCCAACACTGCA	0.428																																						dbGAP											1	Substitution - Missense(1)	breast(1)											115.0	104.0	108.0					10																	30728142		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.275C>G	10.37:g.30728142C>G	ENSP00000263056:p.Ser92Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S92C	ENST00000263056.1	37	c.275	CCDS7166.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.378843|4.378843	0.82682|0.82682	.|.	.|.	ENSG00000107968|ENSG00000107968	ENST00000430603|ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000375322;ENST00000413724;ENST00000375321	.|T;T;T;T;T	.|0.71934	.|-0.61;-0.61;3.96;0.96;-0.61	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.051865	.|0.85682	.|D	.|0.000000	T|T	0.74596|0.74596	0.3737|0.3737	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999995|0.999995	.|D	.|0.67145	.|0.996	.|P	.|0.57371	.|0.819	T|T	0.77558|0.77558	-0.2543|-0.2543	5|10	.|0.87932	.|D	.|0	.|.	19.571|19.571	0.95419|0.95419	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|92	.|P41279	.|M3K8_HUMAN	A|C	13|92	.|ENSP00000263056:S92C;ENSP00000443610:S92C;ENSP00000409653:S92C;ENSP00000391275:S92C;ENSP00000364470:S92C	.|ENSP00000263056:S92C	P|S	+|+	1|2	0|0	MAP3K8|MAP3K8	30768148|30768148	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.983000|0.983000	0.72400|0.72400	6.288000|6.288000	0.72679|0.72679	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CCA|TCC	MAP3K8	-	NULL	ENSG00000107968		0.428	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAP3K8	HGNC	protein_coding	OTTHUMT00000047416.2	149	0.00	0	C	NM_005204		30728142	30728142	+1	no_errors	ENST00000263056	ensembl	human	known	69_37n	missense	118	29.76	50	SNP	1.000	G
MCM4	4173	genome.wustl.edu	37	8	48883292	48883292	+	Silent	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr8:48883292G>A	ENST00000262105.2	+	11	1865	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E	MCM4_ENST00000523944.1_Silent_p.E552E|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	552	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.E552E(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AAGACCCTGAGACAAGGCAGC	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											110.0	83.0	92.0					8																	48883292		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1656G>A	8.37:g.48883292G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEH1|Q99658	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.E552	ENST00000262105.2	37	c.1656	CCDS6143.1	8																																																																																			MCM4	-	pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	ENSG00000104738		0.542	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	118	0.84	1	G	NM_005914		48883292	48883292	+1	no_errors	ENST00000262105	ensembl	human	known	69_37n	silent	42	52.27	46	SNP	1.000	A
MYH11	4629	genome.wustl.edu	37	16	15802686	15802687	+	Intron	INS	-	-	G	rs111588143	byFrequency	TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr16:15802686_15802687insG	ENST00000300036.5	-	41	5896				NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Intron|MYH11_ENST00000576790.2_Frame_Shift_Ins_p.P1933fs|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Frame_Shift_Ins_p.P1940fs|MYH11_ENST00000573908.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle						axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AAGTTTCCTGTGGGGGGGGCCC	0.495			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0									,,,,,	37,4227		0,37,2095					,,,,,	1.7	1.0			33	57,8197		0,57,4070	no	frameshift,intron,intron,intron,intron,frameshift	MYH11,NDE1	NM_022844.2,NM_017668.2,NM_002474.2,NM_001143979.1,NM_001040114.1,NM_001040113.1	,,,,,	0,94,6165	A1A1,A1R,RR		0.6906,0.8677,0.7509	,,,,,	,,,,,		94,12424				-	-	-	SO:0001627	intron_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5787-4706->C	16.37:g.15802694_15802694dupG		Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.Q1941fs	ENST00000300036.5	37	c.5820_5819	CCDS10565.1	16																																																																																			MYH11	-	NULL	ENSG00000133392		0.495	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	18	0.00	0	-	NM_001040113		15802686	15802687	-1	no_errors	ENST00000452625	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	1.000:1.000	G
NFATC4	4776	genome.wustl.edu	37	14	24846878	24846878	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr14:24846878C>G	ENST00000250373.4	+	10	2817	c.2676C>G	c.(2674-2676)ttC>ttG	p.F892L	NFATC4_ENST00000554591.1_Missense_Mutation_p.F847L|NFATC4_ENST00000555393.1_3'UTR|NFATC4_ENST00000555590.1_Missense_Mutation_p.F905L|NFATC4_ENST00000557767.1_Missense_Mutation_p.F72L|NFATC4_ENST00000413692.2_3'UTR|NFATC4_ENST00000554661.1_Missense_Mutation_p.F714L|NFATC4_ENST00000554473.1_Missense_Mutation_p.F319L|NFATC4_ENST00000556279.1_Missense_Mutation_p.F924L|NFATC4_ENST00000557451.1_3'UTR|NFATC4_ENST00000556169.1_Missense_Mutation_p.F772L|NFATC4_ENST00000555802.1_Missense_Mutation_p.F180L|NFATC4_ENST00000424781.2_3'UTR|NFATC4_ENST00000555453.1_Missense_Mutation_p.F880L|NFATC4_ENST00000554050.1_Missense_Mutation_p.F784L|NFATC4_ENST00000553879.1_Missense_Mutation_p.F822L|NFATC4_ENST00000422617.3_3'UTR|NFATC4_ENST00000539237.2_3'UTR|NFATC4_ENST00000553469.1_Missense_Mutation_p.F816L|NFATC4_ENST00000554966.1_Missense_Mutation_p.F797L|NFATC4_ENST00000554344.1_Missense_Mutation_p.F822L|NFATC4_ENST00000556759.1_Missense_Mutation_p.F427L|NFATC4_ENST00000555167.1_3'UTR|NFATC4_ENST00000553708.1_3'UTR	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	892					cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.F892L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGAGTGGCTTCCCTGCACCTC	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											124.0	101.0	108.0					14																	24846878		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2676C>G	14.37:g.24846878C>G	ENSP00000250373:p.Phe892Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.F924L	ENST00000250373.4	37	c.2772	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	C	8.018	0.759010	0.15846	.	.	ENSG00000100968	ENST00000554591;ENST00000555590;ENST00000554966;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000557767;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59638	3.11;2.94;3.15;2.91;3.13;3.16;2.96;2.65;2.65;2.84;2.82;2.59;1.44;1.24;0.25	5.72	2.91	0.33838	.	0.000000	0.64402	D	0.000016	T	0.38825	0.1055	N	0.19112	0.55	0.34937	D	0.749922	B;P;B;P;B;B;P;P;B	0.51147	0.395;0.865;0.395;0.942;0.395;0.395;0.942;0.891;0.275	B;B;B;P;B;B;P;P;B	0.45610	0.221;0.391;0.221;0.487;0.221;0.221;0.487;0.487;0.11	T	0.43718	-0.9374	10	0.09590	T	0.72	.	7.9947	0.30261	0.0:0.6776:0.0:0.3224	.	772;880;816;924;797;905;955;847;892	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-2;Q14934-11;Q14934	.;.;.;.;.;.;.;.;NFAC4_HUMAN	L	847;905;797;924;816;784;892;822;822;714;772;880;319;427;72;180	ENSP00000452039:F847L;ENSP00000451224:F905L;ENSP00000450644:F797L;ENSP00000452270:F924L;ENSP00000451502:F816L;ENSP00000451151:F784L;ENSP00000250373:F892L;ENSP00000452349:F822L;ENSP00000450469:F822L;ENSP00000450733:F714L;ENSP00000451454:F772L;ENSP00000450686:F880L;ENSP00000450810:F319L;ENSP00000451183:F427L;ENSP00000451590:F180L	ENSP00000250373:F892L	F	+	3	2	NFATC4	23916718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.940000	0.28992	0.771000	0.33359	0.655000	0.94253	TTC	NFATC4	-	NULL	ENSG00000100968		0.602	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	80	0.00	0	C	NM_004554		24846878	24846878	+1	no_errors	ENST00000556279	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	1.000	G
NLRP3	114548	genome.wustl.edu	37	1	247608079	247608079	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr1:247608079C>A	ENST00000336119.3	+	8	3713	c.2967C>A	c.(2965-2967)ttC>ttA	p.F989L	NLRP3_ENST00000391828.3_Missense_Mutation_p.F989L|NLRP3_ENST00000348069.2_Missense_Mutation_p.F875L|NLRP3_ENST00000391827.2_Missense_Mutation_p.F932L|NLRP3_ENST00000366496.2_Missense_Mutation_p.F932L|NLRP3_ENST00000366497.2_Missense_Mutation_p.F932L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	989					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.F989L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCATGATGTTCTGTGAAGTGC	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											60.0	54.0	56.0					1																	247608079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2967C>A	1.37:g.247608079C>A	ENSP00000337383:p.Phe989Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F989L	ENST00000336119.3	37	c.2967	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	C	3.679	-0.065878	0.07273	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	4.71	0.295	0.15752	.	0.522556	0.16272	N	0.221734	T	0.03011	0.0089	N	0.00057	-2.36	0.24140	N	0.995731	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.40308	-0.9570	10	0.02654	T	1	.	3.7837	0.08690	0.1556:0.4521:0.3028:0.0896	.	969;932;875;932;989	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	989;932;989;875;932;932	ENSP00000375704:F989L;ENSP00000355453:F932L;ENSP00000337383:F989L;ENSP00000294752:F875L;ENSP00000355452:F932L;ENSP00000375703:F932L	ENSP00000337383:F989L	F	+	3	2	NLRP3	245674702	0.999000	0.42202	0.464000	0.27143	0.927000	0.56198	0.331000	0.19733	-0.032000	0.13758	0.549000	0.68633	TTC	NLRP3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000162711		0.572	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	95	0.00	0	C	NM_004895		247608079	247608079	+1	no_errors	ENST00000336119	ensembl	human	known	69_37n	missense	35	40.68	24	SNP	0.993	A
NPAS4	266743	genome.wustl.edu	37	11	66192385	66192385	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr11:66192385C>A	ENST00000311034.2	+	7	2200	c.2024C>A	c.(2023-2025)tCa>tAa	p.S675*		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	675					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S675*(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGTCCCTGTCAGGGGCAGGC	0.612																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											85.0	92.0	89.0					11																	66192385		2200	4295	6495	-	-	-	SO:0001587	stop_gained	0			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2024C>A	11.37:g.66192385C>A	ENSP00000311196:p.Ser675*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL81|Q8N8S5|Q8N9Q9	Nonsense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.S675*	ENST00000311034.2	37	c.2024	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.797724	0.96952	.	.	ENSG00000174576	ENST00000311034	.	.	.	4.69	4.69	0.59074	.	0.704188	0.12535	N	0.460443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	0.1321	15.1587	0.72764	0.0:1.0:0.0:0.0	.	.	.	.	X	675	.	ENSP00000311196:S675X	S	+	2	0	NPAS4	65948961	0.794000	0.28838	0.441000	0.26858	0.919000	0.55068	2.991000	0.49409	2.443000	0.82685	0.655000	0.94253	TCA	NPAS4	-	NULL	ENSG00000174576		0.612	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	165	0.00	0	C	NM_178864		66192385	66192385	+1	no_errors	ENST00000311034	ensembl	human	known	69_37n	nonsense	36	36.84	21	SNP	0.177	A
NR2E3	10002	genome.wustl.edu	37	15	72106381	72106381	+	RNA	SNP	C	C	T	rs200402349		TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr15:72106381C>T	ENST00000398840.2	+	0	1213							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.H341H(1)|p.H340H(1)|p.H253H(1)		breast(1)|endometrium(1)|lung(1)	3						ATCCTGAGCACGTAGAGGCCT	0.622																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											37.0	44.0	42.0					15																	72106381		2116	4232	6348	-	-	-			0				CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"""Nuclear hormone receptors"""	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72106381C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B6ZGU0|Q9UHM4	RNA	SNP	-	NULL	ENST00000398840.2	37	NULL		15																																																																																			NR2E3	-	-	ENSG00000031544		0.622	NR2E3-202	KNOWN	basic	processed_transcript	NR2E3	HGNC	processed_transcript		48	0.00	0	C	NM_014249		72106381	72106381	+1	no_errors	ENST00000326995	ensembl	human	known	69_37n	rna	2	75.00	6	SNP	0.744	T
OAS2	4939	genome.wustl.edu	37	12	113440772	113440772	+	Silent	SNP	G	G	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:113440772G>C	ENST00000342315.4	+	6	1258	c.1044G>C	c.(1042-1044)ctG>ctC	p.L348L	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.L348L	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	348	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.L348L(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCACCTTCTGGATAAGTTCA	0.502																																					Pancreas(199;709 2232 18410 33584 35052)	dbGAP											1	Substitution - coding silent(1)	breast(1)											215.0	204.0	208.0					12																	113440772		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1044G>C	12.37:g.113440772G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.L348	ENST00000342315.4	37	c.1044	CCDS31906.1	12																																																																																			OAS2	-	NULL	ENSG00000111335		0.502	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	551	0.00	0	G			113440772	113440772	+1	no_errors	ENST00000342315	ensembl	human	known	69_37n	silent	62	86.70	404	SNP	0.085	C
OR1D5	8386	genome.wustl.edu	37	17	2966828	2966828	+	Missense_Mutation	SNP	C	C	T	rs531952330	byFrequency	TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr17:2966828C>T	ENST00000575751.1	-	1	73	c.74G>A	c.(73-75)cGg>cAg	p.R25Q		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	25					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|lung(10)	11						AAACAGGATCCGCTGCTGCTC	0.522													.|||	141	0.028155	0.0151	0.036	5008	,	,		11161	0.0506		0.0358	False		,,,				2504	0.0092					dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.74G>A	17.37:g.2966828C>T	ENSP00000459028:p.Arg25Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96RA6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R25Q	ENST00000575751.1	37	c.74	CCDS58499.1	17																																																																																			OR1D5	-	NULL	ENSG00000262628		0.522	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D5	Clone_based_vega_gene	protein_coding	OTTHUMT00000438410.2	165	0.00	0	C	NM_014566		2966828	2966828	-1	no_errors	ENST00000575751	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	0.000	T
OR52A1	23538	genome.wustl.edu	37	11	5173461	5173461	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr11:5173461G>T	ENST00000380367.1	-	2	556	c.139C>A	c.(139-141)Ctt>Att	p.L47I	OR52A1_ENST00000328942.1_Missense_Mutation_p.L47I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	47					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.L47I(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTCAGAAGCAAGGAATTT	0.458																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|breast(1)											82.0	76.0	78.0					11																	5173461		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.139C>A	11.37:g.5173461G>T	ENSP00000369725:p.Leu47Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF31	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L47I	ENST00000380367.1	37	c.139	CCDS31374.1	11	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.112313	0.00353	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.03524	3.9;3.9	5.26	0.835	0.18886	GPCR, rhodopsin-like superfamily (1);	0.169995	0.26143	N	0.026092	T	0.01523	0.0049	N	0.03999	-0.3	0.18873	N	0.999983	B	0.15930	0.015	B	0.20384	0.029	T	0.49224	-0.8962	10	0.02654	T	1	.	8.4329	0.32769	0.0753:0.0:0.3537:0.571	.	47	Q9UKL2	O52A1_HUMAN	I	47	ENSP00000369725:L47I;ENSP00000333684:L47I	ENSP00000333684:L47I	L	-	1	0	OR52A1	5130037	0.000000	0.05858	0.040000	0.18447	0.032000	0.12392	-1.464000	0.02359	0.282000	0.22254	0.655000	0.94253	CTT	OR52A1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000182070		0.458	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	HGNC	protein_coding	OTTHUMT00000142810.2	124	0.00	0	G	NM_012375		5173461	5173461	-1	no_errors	ENST00000328942	ensembl	human	known	69_37n	missense	16	80.72	67	SNP	0.284	T
OR4D6	219983	genome.wustl.edu	37	11	59224890	59224890	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr11:59224890G>T	ENST00000300127.2	+	1	480	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G153C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGTGAGTGGTGGTTTGCATTC	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)											287.0	252.0	264.0					11																	59224890		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.457G>T	11.37:g.59224890G>T	ENSP00000300127:p.Gly153Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G153C	ENST00000300127.2	37	c.457	CCDS31562.1	11	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297800	0.23650	.	.	ENSG00000166884	ENST00000300127	T	0.00042	8.84	5.47	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.432771	0.19817	N	0.105413	T	0.00073	0.0002	N	0.02247	-0.625	0.09310	N	1	B	0.14805	0.011	B	0.21151	0.033	T	0.15607	-1.0431	10	0.54805	T	0.06	-3.7674	8.8885	0.35418	0.0693:0.0:0.4373:0.4934	.	153	Q8NGJ1	OR4D6_HUMAN	C	153	ENSP00000300127:G153C	ENSP00000300127:G153C	G	+	1	0	OR4D6	58981466	0.000000	0.05858	0.115000	0.21578	0.894000	0.52154	-0.704000	0.05058	0.117000	0.18138	-0.142000	0.14014	GGT	OR4D6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000166884		0.507	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D6	HGNC	protein_coding	OTTHUMT00000394234.1	362	0.00	0	G	NM_001004708		59224890	59224890	+1	no_errors	ENST00000300127	ensembl	human	known	69_37n	missense	221	44.47	177	SNP	0.001	T
OSCP1	127700	genome.wustl.edu	37	1	36883811	36883811	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr1:36883811C>G	ENST00000356637.5	-	11	1162	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000433045.2_Missense_Mutation_p.E312Q|SNORA63_ENST00000364578.1_RNA|OSCP1_ENST00000235532.5_Missense_Mutation_p.E357Q|OSCP1_ENST00000315643.9_Intron			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	367					transport (GO:0006810)	plasma membrane (GO:0005886)		p.E367Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TCCGTGATCTCAAACTCCCCC	0.577																																						dbGAP											1	Substitution - Missense(1)	breast(1)											101.0	75.0	84.0					1																	36883811		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.1099G>C	1.37:g.36883811C>G	ENSP00000349052:p.Glu367Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	pfam_OSCP1	p.E357Q	ENST00000356637.5	37	c.1069		1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733178	0.48939	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045	T;T;T	0.31510	1.9;1.91;1.49	5.58	5.58	0.84498	.	0.112824	0.64402	D	0.000011	T	0.26882	0.0658	L	0.35288	1.05	0.80722	D	1	B;B	0.23128	0.028;0.08	B;B	0.17098	0.015;0.017	T	0.02491	-1.1151	10	0.45353	T	0.12	.	16.7213	0.85410	0.0:1.0:0.0:0.0	.	357;367	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	Q	357;367;312	ENSP00000235532:E357Q;ENSP00000349052:E367Q;ENSP00000390820:E312Q	ENSP00000235532:E357Q	E	-	1	0	OSCP1	36656398	1.000000	0.71417	0.990000	0.47175	0.944000	0.59088	3.503000	0.53340	2.621000	0.88768	0.650000	0.86243	GAG	OSCP1	-	NULL	ENSG00000116885		0.577	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	OSCP1	HGNC	protein_coding	OTTHUMT00000389759.1	106	0.00	0	C	NM_145047		36883811	36883811	-1	no_errors	ENST00000235532	ensembl	human	known	69_37n	missense	12	76.47	39	SNP	0.996	G
PABPC1	26986	genome.wustl.edu	37	8	101717869	101717869	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr8:101717869C>G	ENST00000318607.5	-	12	2763	c.1635G>C	c.(1633-1635)ttG>ttC	p.L545F	PABPC1_ENST00000519596.1_5'Flank|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Missense_Mutation_p.L500F|PABPC1_ENST00000522387.1_Missense_Mutation_p.L513F	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	545	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.L545F(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGGAAGCAGTCAAAGGTTCCT	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											63.0	54.0	57.0					8																	101717869		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1635G>C	8.37:g.101717869C>G	ENSP00000313007:p.Leu545Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15097|Q93004	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.L545F	ENST00000318607.5	37	c.1635	CCDS6289.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.147201|4.147201	0.77888|0.77888	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658|ENST00000520868	T;T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76;0.76|.	5.75|5.75	3.91|3.91	0.45181|0.45181	Polyadenylate-binding protein/Hyperplastic disc protein (4);|.	0.000000|.	0.51477|.	D|.	0.000090|.	T|.	0.79215|.	0.4408|.	M|M	0.89785|0.89785	3.06|3.06	0.51482|0.51482	D|D	0.999922|0.999922	D;P;D|.	0.76494|.	0.999;0.904;0.99|.	D;P;D|.	0.79784|.	0.993;0.768;0.984|.	T|.	0.82993|.	-0.0181|.	10|.	0.66056|.	D|.	0.02|.	.|.	12.283|12.283	0.54776|0.54776	0.0:0.8517:0.0:0.1483|0.0:0.8517:0.0:0.1483	.|.	513;545;545|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	F|S	545;456;500;513;54;92|78	ENSP00000313007:L545F;ENSP00000429594:L500F;ENSP00000429395:L513F;ENSP00000428030:L54F;ENSP00000428840:L92F|.	ENSP00000313007:L545F|.	L|X	-|-	3|2	2|2	PABPC1|PABPC1	101787045|101787045	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.062000|2.062000	0.41413|0.41413	1.545000|1.545000	0.49373|0.49373	0.655000|0.655000	0.94253|0.94253	TTG|TGA	PABPC1	-	pfam_PABP_HYD,superfamily_PABP_HYD,tigrfam_PABP_1234	ENSG00000070756		0.408	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1	HGNC	protein_coding	OTTHUMT00000380217.1	98	0.00	0	C	NM_002568		101717869	101717869	-1	no_errors	ENST00000318607	ensembl	human	known	69_37n	missense	49	41.67	35	SNP	1.000	G
PLCZ1	89869	genome.wustl.edu	37	12	18852835	18852835	+	Missense_Mutation	SNP	G	G	C	rs146251347	byFrequency	TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:18852835G>C	ENST00000538330.1	-	6	794	c.413C>G	c.(412-414)aCg>aGg	p.T138R	PLCZ1_ENST00000539875.1_Missense_Mutation_p.T163R|PLCZ1_ENST00000266505.7_Missense_Mutation_p.T356R|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.T219R|PLCZ1_ENST00000435379.1_Missense_Mutation_p.T161R|PLCZ1_ENST00000447925.2_Missense_Mutation_p.T354R					phospholipase C, zeta 1									p.T356R(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTCAGCTTTCGTATAAATGAC	0.303																																						dbGAP											1	Substitution - Missense(1)	breast(1)											37.0	39.0	38.0					12																	18852835		2201	4294	6495	-	-	-	SO:0001583	missense	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.413C>G	12.37:g.18852835G>C	ENSP00000445880:p.Thr138Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.Y227*	ENST00000538330.1	37	c.681		12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166438	0.78339	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242	T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;0.6	5.88	5.88	0.94601	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.85217	0.5646	M	0.90019	3.08	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	D	0.87581	0.2484	10	0.87932	D	0	.	16.9709	0.86298	0.0:0.0:1.0:0.0	.	356;138	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	R	138;356;354;161;219;163;91;97	ENSP00000445880:T138R;ENSP00000266505:T356R;ENSP00000402358:T354R;ENSP00000400504:T161R;ENSP00000443349:T219R;ENSP00000445026:T163R;ENSP00000445889:T91R;ENSP00000443762:T97R	ENSP00000266505:T356R	T	-	2	0	PLCZ1	18744102	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	6.980000	0.76160	2.779000	0.95612	0.650000	0.86243	ACG	PLCZ1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000139151		0.303	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	108	0.00	0	G	NM_033123		18852835	18852835	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000540270	ensembl	human	known	69_37n	nonsense	91	40.52	62	SNP	1.000	C
PDE3A	5139	genome.wustl.edu	37	12	20807084	20807084	+	Silent	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:20807084G>A	ENST00000359062.3	+	15	3169	c.3129G>A	c.(3127-3129)gaG>gaA	p.E1043E	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1043	Catalytic. {ECO:0000250}.|Poly-Glu.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.E1043E(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AAGAAGAGGAGGAAGAAGCAC	0.448																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											124.0	124.0	124.0					12																	20807084		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3129G>A	12.37:g.20807084G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.E1043	ENST00000359062.3	37	c.3129	CCDS31754.1	12																																																																																			PDE3A	-	NULL	ENSG00000172572		0.448	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	298	0.00	0	G			20807084	20807084	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	silent	194	41.39	137	SNP	0.998	A
POTEH	23784	genome.wustl.edu	37	22	16277842	16277842	+	Missense_Mutation	SNP	C	C	T	rs200138043	byFrequency	TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr22:16277842C>T	ENST00000343518.6	-	5	1123	c.1072G>A	c.(1072-1074)Gtc>Atc	p.V358I	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	358										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AGAAGGCTGACTATACTTGCC	0.363																																						dbGAP											0													3.0	2.0	3.0					22																	16277842		413	840	1253	-	-	-	SO:0001583	missense	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1072G>A	22.37:g.16277842C>T	ENSP00000340610:p.Val358Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V358I	ENST00000343518.6	37	c.1072	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	11.32	1.605321	0.28623	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.69685	-0.42	0.887	0.887	0.19200	Ankyrin repeat-containing domain (4);	0.760974	0.10024	U	0.725571	T	0.67505	0.2900	L	0.31578	0.945	0.09310	N	1	P;D	0.71674	0.941;0.998	P;D	0.80764	0.815;0.994	T	0.54316	-0.8312	10	0.46703	T	0.11	.	5.178	0.15145	0.0:1.0:0.0:0.0	.	358;321	Q6S545;A6NKF6	POTEH_HUMAN;.	I	321;358	ENSP00000340610:V358I	ENSP00000340610:V358I	V	-	1	0	POTEH	14657842	0.223000	0.23663	0.038000	0.18304	0.074000	0.17049	1.024000	0.30077	0.789000	0.33779	0.175000	0.17021	GTC	POTEH	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000198062		0.363	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	21	0.00	0	C	NM_001136213		16277842	16277842	-1	no_errors	ENST00000343518	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	0.059	T
PPIG	9360	genome.wustl.edu	37	2	170487451	170487451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr2:170487451C>T	ENST00000260970.3	+	10	935	c.715C>T	c.(715-717)Cga>Tga	p.R239*	PPIG_ENST00000448752.2_Nonsense_Mutation_p.R239*|PPIG_ENST00000409714.3_Nonsense_Mutation_p.R224*|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000462903.1_Nonsense_Mutation_p.R239*	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	239	Arg/Lys-rich (basic).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.R239*(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GAAAAATTCCCGAAAACACAA	0.333																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											29.0	33.0	32.0					2																	170487451		2156	4187	6343	-	-	-	SO:0001587	stop_gained	0			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.715C>T	2.37:g.170487451C>T	ENSP00000260970:p.Arg239*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Nonsense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R239*	ENST00000260970.3	37	c.715	CCDS2235.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.229975	0.97394	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	.	.	.	5.74	5.74	0.90152	.	0.746276	0.11691	N	0.538939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.117	12.745	0.57276	0.2698:0.7302:0.0:0.0	.	.	.	.	X	239;239;235;224;239;239;239	.	ENSP00000260970:R239X	R	+	1	2	PPIG	170195697	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.073000	0.57570	2.683000	0.91414	0.655000	0.94253	CGA	PPIG	-	NULL	ENSG00000138398		0.333	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIG	HGNC	protein_coding	OTTHUMT00000255264.2	186	0.00	0	C			170487451	170487451	+1	no_errors	ENST00000260970	ensembl	human	known	69_37n	nonsense	40	86.29	258	SNP	1.000	T
PPP1R3A	5506	genome.wustl.edu	37	7	113519707	113519707	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr7:113519707T>A	ENST00000284601.3	-	4	1508	c.1440A>T	c.(1438-1440)aaA>aaT	p.K480N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	480					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.K480N(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATCCCAAATCTTTTACTTCAA	0.378																																						dbGAP											1	Substitution - Missense(1)	breast(1)											56.0	55.0	55.0					7																	113519707		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1440A>T	7.37:g.113519707T>A	ENSP00000284601:p.Lys480Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.K480N	ENST00000284601.3	37	c.1440	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090560	0.36855	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.52057	1.97;0.68	6.02	3.68	0.42216	.	0.333537	0.25944	N	0.027293	T	0.52773	0.1755	M	0.69823	2.125	0.09310	N	1	D	0.53619	0.961	P	0.49637	0.617	T	0.50398	-0.8833	10	0.87932	D	0	-2.9316	8.306	0.32042	0.0:0.2236:0.0:0.7764	.	480	Q16821	PPR3A_HUMAN	N	480;159	ENSP00000284601:K480N;ENSP00000401278:K159N	ENSP00000284601:K480N	K	-	3	2	PPP1R3A	113306943	0.952000	0.32445	0.089000	0.20774	0.022000	0.10575	0.997000	0.29731	0.538000	0.28769	0.533000	0.62120	AAA	PPP1R3A	-	NULL	ENSG00000154415		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	292	0.00	0	T	NM_002711		113519707	113519707	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	missense	178	41.69	128	SNP	0.036	A
PPP1R3A	5506	genome.wustl.edu	37	7	113520011	113520011	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr7:113520011G>A	ENST00000284601.3	-	4	1204	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	379					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.S379L(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTTCTGCTGATGAACTTGG	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											179.0	179.0	179.0					7																	113520011		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1136C>T	7.37:g.113520011G>A	ENSP00000284601:p.Ser379Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S379L	ENST00000284601.3	37	c.1136	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235031	0.39498	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.34667	2.23;1.35	5.55	4.67	0.58626	.	0.121629	0.37623	N	0.002018	T	0.33440	0.0863	L	0.58669	1.825	0.37773	D	0.92673	B	0.26445	0.149	B	0.20184	0.028	T	0.27806	-1.0063	10	0.42905	T	0.14	-0.5335	10.9728	0.47448	0.1492:0.0:0.8508:0.0	.	379	Q16821	PPR3A_HUMAN	L	379;58	ENSP00000284601:S379L;ENSP00000401278:S58L	ENSP00000284601:S379L	S	-	2	0	PPP1R3A	113307247	0.998000	0.40836	1.000000	0.80357	0.845000	0.48019	2.602000	0.46257	1.496000	0.48567	0.655000	0.94253	TCA	PPP1R3A	-	NULL	ENSG00000154415		0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	500	0.00	0	G	NM_002711		113520011	113520011	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	missense	305	41.23	214	SNP	1.000	A
PRELID1P1	728666	genome.wustl.edu	37	6	126965425	126965425	+	RNA	DEL	C	C	-			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr6:126965425delC	ENST00000567272.1	+	0	792									PRELI domain containing 1 pseudogene 1																		gcagcagcagcagcagcaaca	0.577																																						dbGAP											0																																										-	-	-			0					6q22.32	2012-04-23			ENSG00000217325	ENSG00000217325			43886	pseudogene	pseudogene							Standard	NG_022903		Approved				OTTHUMG00000015520		6.37:g.126965425delC		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000567272.1	37	NULL		6																																																																																			PRELID1P1	-	-	ENSG00000217325		0.577	PRELID1P1-002	KNOWN	basic	processed_transcript	PRELID1P1	HGNC	pseudogene	OTTHUMT00000436205.1	32	0.00	0	C	NG_022903		126965425	126965425	+1	no_errors	ENST00000567272	ensembl	human	known	69_37n	rna	8	38.46	5	DEL	1.000	-
PRRT1	80863	genome.wustl.edu	37	6	32119594	32119594	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr6:32119594T>C	ENST00000211413.5	-	1	135	c.11A>G	c.(10-12)gAa>gGa	p.E4G	PPT2_ENST00000395523.1_5'Flank|PRRT1_ENST00000467780.1_5'Flank|PRRT1_ENST00000375152.2_Missense_Mutation_p.K31E|PPT2_ENST00000437001.2_5'Flank|PPT2-EGFL8_ENST00000422437.1_5'Flank|PPT2_ENST00000375143.2_5'Flank|PPT2_ENST00000445576.2_5'Flank|PPT2_ENST00000375137.2_5'Flank|PPT2_ENST00000361568.2_5'Flank|PPT2_ENST00000324816.6_5'Flank|PRRT1_ENST00000375150.2_Missense_Mutation_p.K31E	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	4					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E4G(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						ACCTGACTTTTCGGATGACAT	0.637																																						dbGAP											1	Substitution - Missense(1)	breast(1)											75.0	58.0	64.0					6																	32119594		1511	2709	4220	-	-	-	SO:0001583	missense	0			AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.11A>G	6.37:g.32119594T>C	ENSP00000211413:p.Glu4Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.E4G	ENST00000211413.5	37	c.11	CCDS4739.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.53|14.53	2.561889|2.561889	0.45590|0.45590	.|.	.|.	ENSG00000204314|ENSG00000204314	ENST00000211413|ENST00000375150;ENST00000375152;ENST00000428778	D|D;D	0.93247|0.90197	-3.19|-2.63;-2.63	3.96|3.96	3.96|3.96	0.45880|0.45880	.|.	.|.	.|.	.|.	.|.	T|T	0.66317|0.66317	0.2777|0.2777	N|N	0.08118|0.08118	0|0	0.21105|0.21105	N|N	0.99979|0.99979	P|.	0.51653|.	0.947|.	P|.	0.53490|.	0.727|.	T|T	0.58451|0.58451	-0.7634|-0.7634	9|7	0.54805|0.19147	T|T	0.06|0.46	8.4792|8.4792	9.5631|9.5631	0.39383|0.39383	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4|.	Q99946|.	PRRT1_HUMAN|.	G|E	4|31	ENSP00000211413:E4G|ENSP00000364292:K31E;ENSP00000364294:K31E	ENSP00000211413:E4G|ENSP00000364292:K31E	E|K	-|-	2|1	0|0	PRRT1|PRRT1	32227572|32227572	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	3.411000|3.411000	0.52672|0.52672	1.577000|1.577000	0.49804|0.49804	0.528000|0.528000	0.53228|0.53228	GAA|AAA	PRRT1	-	NULL	ENSG00000204314		0.637	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT1	HGNC	protein_coding	OTTHUMT00000076255.2	21	0.00	0	T	NM_030651		32119594	32119594	-1	no_errors	ENST00000211413	ensembl	human	known	69_37n	missense	4	50.00	4	SNP	0.999	C
PTPRZ1	5803	genome.wustl.edu	37	7	121659211	121659211	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr7:121659211G>T	ENST00000393386.2	+	13	5288	c.4877G>T	c.(4876-4878)gGt>gTt	p.G1626V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.G766V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1626					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1626V(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTCGTATTGGTCTAGCTGAG	0.428																																						dbGAP											1	Substitution - Missense(1)	breast(1)											180.0	160.0	167.0					7																	121659211		2203	4300	6503	-	-	-	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4877G>T	7.37:g.121659211G>T	ENSP00000377047:p.Gly1626Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a	p.G1626V	ENST00000393386.2	37	c.4877	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584868	0.86748	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.79653	0.79;-1.29	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	D	0.89217	0.6652	M	0.66939	2.045	0.80722	D	1	D;P;D	0.89917	1.0;0.604;1.0	D;B;D	0.97110	1.0;0.147;1.0	D	0.89871	0.4023	10	0.72032	D	0.01	.	19.1031	0.93282	0.0:0.0:1.0:0.0	.	765;766;1626	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1626;766	ENSP00000377047:G1626V;ENSP00000410000:G766V	ENSP00000377047:G1626V	G	+	2	0	PTPRZ1	121446447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.818000	0.91991	2.539000	0.85634	0.585000	0.79938	GGT	PTPRZ1	-	NULL	ENSG00000106278		0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	65	0.00	0	G	NM_002851		121659211	121659211	+1	no_errors	ENST00000393386	ensembl	human	known	69_37n	missense	56	34.88	30	SNP	1.000	T
QPCTL	54814	genome.wustl.edu	37	19	46196806	46196806	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr19:46196806G>C	ENST00000012049.5	+	2	564	c.343G>C	c.(343-345)Gtc>Ctc	p.V115L	SNRPD2_ENST00000588301.1_5'Flank|SNRPD2_ENST00000391932.3_5'Flank|SNRPD2_ENST00000588599.1_5'Flank|SNRPD2_ENST00000590212.1_5'Flank|SNRPD2_ENST00000587579.1_5'Flank|QPCTL_ENST00000366382.4_Missense_Mutation_p.V115L|SNRPD2_ENST00000585392.1_5'Flank|SNRPD2_ENST00000342669.3_5'Flank|SNRPD2_ENST00000587367.1_5'Flank	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	115					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.V115L(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AAATCTCCAAGTCAGAAAGGT	0.577											OREG0025560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	breast(1)											66.0	75.0	72.0					19																	46196806		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.343G>C	19.37:g.46196806G>C	ENSP00000012049:p.Val115Leu	Somatic	937	WXS	Illumina GAIIx	Phase_IV	Q53HE4|Q96F74	Missense_Mutation	SNP	pfam_Peptidase_M28	p.V115L	ENST00000012049.5	37	c.343	CCDS12672.1	19	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794857	0.50102	.	.	ENSG00000011478	ENST00000012049;ENST00000366382	T;T	0.22743	1.94;2.07	5.34	5.34	0.76211	.	0.060489	0.64402	D	0.000003	T	0.37544	0.1007	M	0.90252	3.1	0.28450	N	0.916391	D	0.61080	0.989	P	0.44897	0.463	T	0.55029	-0.8204	10	0.72032	D	0.01	-28.758	14.5475	0.68041	0.0:0.0:1.0:0.0	.	115	Q9NXS2	QPCTL_HUMAN	L	115	ENSP00000012049:V115L;ENSP00000387944:V115L	ENSP00000012049:V115L	V	+	1	0	QPCTL	50888646	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.230000	0.58632	2.514000	0.84764	0.462000	0.41574	GTC	QPCTL	-	NULL	ENSG00000011478		0.577	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCTL	HGNC	protein_coding	OTTHUMT00000459656.1	90	0.00	0	G	NM_017659		46196806	46196806	+1	no_errors	ENST00000012049	ensembl	human	known	69_37n	missense	28	50.00	28	SNP	1.000	C
RABGGTA	5875	genome.wustl.edu	37	14	24736910	24736910	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr14:24736910T>G	ENST00000399409.3	-	13	1792	c.1309A>C	c.(1309-1311)Aag>Cag	p.K437Q	RABGGTA_ENST00000560777.1_Missense_Mutation_p.K46Q|RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000216840.6_Missense_Mutation_p.K437Q	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	437					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.K437Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TACTCCATCTTGAGCACGCTA	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											60.0	62.0	61.0					14																	24736910		2185	4271	6456	-	-	-	SO:0001583	missense	0				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1309A>C	14.37:g.24736910T>G	ENSP00000382341:p.Lys437Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5N2|D3DS69	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a	p.K437Q	ENST00000399409.3	37	c.1309	CCDS45088.1	14	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269336	0.59540	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.41758	0.99;0.99	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.35288	1.05	0.51767	D	0.999934	B	0.25743	0.133	B	0.14578	0.011	T	0.08994	-1.0695	10	0.41790	T	0.15	-27.2984	13.0115	0.58733	0.0:0.0:0.0:1.0	.	437	Q92696	PGTA_HUMAN	Q	437	ENSP00000216840:K437Q;ENSP00000382341:K437Q	ENSP00000216840:K437Q	K	-	1	0	RABGGTA	23806750	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.740000	0.62087	2.078000	0.62432	0.460000	0.39030	AAG	RABGGTA	-	NULL	ENSG00000100949		0.617	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RABGGTA	HGNC	protein_coding	OTTHUMT00000415308.5	78	0.00	0	T	NM_182836		24736910	24736910	-1	no_errors	ENST00000216840	ensembl	human	known	69_37n	missense	15	44.44	12	SNP	1.000	G
RBMX	27316	genome.wustl.edu	37	X	135960146	135960147	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chrX:135960146_135960147insAA	ENST00000320676.7	-	4	469_470	c.315_316insTT	c.(313-318)cctccafs	p.P106fs	RBMX_ENST00000562646.1_Frame_Shift_Ins_p.P106fs|RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000431446.3_Intron|SNORD61_ENST00000384252.1_RNA	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	106					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P106fs*32(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AGACCTCTTGGAGGGCCTCTAC	0.535																																						dbGAP											1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.315_316insTT	X.37:g.135960146_135960147insAA	ENSP00000359645:p.Pro106fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.P105fs	ENST00000320676.7	37	c.316_315	CCDS14661.1	X																																																																																			RBMX	-	NULL	ENSG00000147274		0.535	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	115	0.00	0	-	NM_002139		135960146	135960147	-1	no_errors	ENST00000320676	ensembl	human	known	69_37n	frame_shift_ins	52	11.86	7	INS	1.000:1.000	AA
RFC1	5981	genome.wustl.edu	37	4	39304714	39304714	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr4:39304714C>A	ENST00000381897.1	-	16	2304	c.2171G>T	c.(2170-2172)gGc>gTc	p.G724V	RFC1_ENST00000349703.2_Missense_Mutation_p.G723V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	724					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.G724V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCTGCCATGCCATCTACTTC	0.413																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											1	Substitution - Missense(1)	breast(1)											184.0	146.0	159.0					4																	39304714		2203	4300	6503	-	-	-	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2171G>T	4.37:g.39304714C>A	ENSP00000371321:p.Gly724Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.G724V	ENST00000381897.1	37	c.2171	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024810	0.93518	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	D;D;D	0.92805	-3.11;-3.11;-2.53	5.71	5.71	0.89125	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97129	0.9062	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97507	1.0064	10	0.87932	D	0	-12.7298	19.8497	0.96734	0.0:1.0:0.0:0.0	.	724;723	P35251;P35251-2	RFC1_HUMAN;.	V	724;723;186	ENSP00000371321:G724V;ENSP00000261424:G723V;ENSP00000422129:G186V	ENSP00000261424:G723V	G	-	2	0	RFC1	38981109	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.549000	0.82163	2.694000	0.91930	0.609000	0.83330	GGC	RFC1	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.413	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	335	0.00	0	C	NM_002913		39304714	39304714	-1	no_errors	ENST00000381897	ensembl	human	known	69_37n	missense	119	41.09	83	SNP	1.000	A
RGPD1	400966	genome.wustl.edu	37	2	87211939	87211939	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr2:87211939C>G	ENST00000559485.1	+	19	2636	c.2620C>G	c.(2620-2622)Ctc>Gtc	p.L874V	RGPD1_ENST00000398193.3_Missense_Mutation_p.L882V|RGPD1_ENST00000409776.2_Missense_Mutation_p.L874V	NM_001024457.3	NP_001019628.3	P0DJD0	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1	874					protein targeting to Golgi (GO:0000042)			p.L882V(2)		breast(1)|endometrium(1)|lung(1)	3						CCAGTATCTTCTCAGACCAGC	0.299																																						dbGAP											2	Substitution - Missense(2)	breast(2)											22.0	26.0	25.0					2																	87211939		885	1988	2873	-	-	-	SO:0001583	missense	0				CCDS46358.1, CCDS46358.2	2p11.2	2013-09-24			ENSG00000187627	ENSG00000187627		"""Tetratricopeptide (TTC) repeat domain containing"""	32414	protein-coding gene	gene with protein product		612704				15710750, 15815621	Standard	NM_001024457		Approved	RGP1	uc021vkh.1	P0DJD0	OTTHUMG00000153248	ENST00000559485.1:c.2620C>G	2.37:g.87211939C>G	ENSP00000453170:p.Leu874Val	Somatic		WXS	Illumina GAIIx	Phase_IV	P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L882V	ENST00000559485.1	37	c.2644	CCDS46358.2	2	.	.	.	.	.	.	.	.	.	.	.	12.55	1.972780	0.34848	.	.	ENSG00000187627	ENST00000409776;ENST00000398193	T;T	0.65916	-0.18;-0.18	2.45	2.45	0.29901	.	.	.	.	.	T	0.73218	0.3559	M	0.66939	2.045	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.72625	0.978;0.952;0.952	T	0.73072	-0.4098	9	0.45353	T	0.12	-9.8227	10.6269	0.45512	0.0:1.0:0.0:0.0	.	882;882;874	F8VYC4;E7ESF1;Q68DN6	.;.;RGPD1_HUMAN	V	874;882	ENSP00000386808:L874V;ENSP00000381253:L882V	ENSP00000381253:L882V	L	+	1	0	RGPD1	87065450	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.231000	0.58639	1.374000	0.46228	0.184000	0.17185	CTC	RGPD1	-	NULL	ENSG00000187627		0.299	RGPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGPD1	HGNC	protein_coding	OTTHUMT00000330684.4	56	0.00	0	C	NM_001024457		87211939	87211939	+1	no_errors	ENST00000398193	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	G
RGPD2	729857	genome.wustl.edu	37	2	88084626	88084626	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr2:88084626G>C	ENST00000398146.3	-	19	2866	c.2644C>G	c.(2644-2646)Ctc>Gtc	p.L882V	RGPD2_ENST00000494592.1_5'Flank|RGPD2_ENST00000420840.2_Missense_Mutation_p.L874V|RGPD2_ENST00000327544.6_Missense_Mutation_p.L139V			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	882					protein targeting to Golgi (GO:0000042)			p.L882V(1)|p.L139V(1)		breast(1)|pancreas(1)	2						GCTGGTCTGAGAAGATACTGG	0.299																																						dbGAP											2	Substitution - Missense(2)	breast(2)											1.0	1.0	1.0					2																	88084626		12	13	25	-	-	-	SO:0001583	missense	0				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.2644C>G	2.37:g.88084626G>C	ENSP00000381214:p.Leu882Val	Somatic		WXS	Illumina GAIIx	Phase_IV	P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L882V	ENST00000398146.3	37	c.2644	CCDS42710.2	2	.	.	.	.	.	.	.	.	.	.	.	11.50	1.657365	0.29425	.	.	ENSG00000185304	ENST00000398146;ENST00000420840;ENST00000327544	T;T;T	0.65916	-0.18;-0.18;-0.18	2.35	2.35	0.29111	.	.	.	.	.	T	0.70219	0.3199	L	0.54323	1.7	0.27808	N	0.94224	D	0.63880	0.993	D	0.67548	0.952	T	0.59359	-0.7469	9	0.30854	T	0.27	-9.8227	10.4068	0.44266	0.0:0.0:1.0:0.0	.	882	B4DYH0	.	V	882;874;139	ENSP00000381214:L882V;ENSP00000413275:L874V;ENSP00000332727:L139V	ENSP00000332727:L139V	L	-	1	0	RGPD2	87865741	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	5.962000	0.70364	1.313000	0.45069	0.184000	0.17185	CTC	RGPD2	-	NULL	ENSG00000185304		0.299	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	HGNC	protein_coding	OTTHUMT00000330534.2	43	0.00	0	G	NM_001078170		88084626	88084626	-1	no_errors	ENST00000398146	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	1.000	C
CDR2	1039	genome.wustl.edu	37	16	22444131	22444131	+	5'UTR	SNP	T	T	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr16:22444131T>C	ENST00000569045.1	-	0	501				RRN3P3_ENST00000551766.1_RNA			Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa							cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CCGCTCAAAATTCAGACTCTG	0.338																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000569045.1:c.-325A>G	16.37:g.22444131T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A8|Q13977	RNA	SNP	-	NULL	ENST00000569045.1	37	NULL		16																																																																																			RRN3P3	-	-	ENSG00000257122		0.338	CDR2-006	KNOWN	basic	processed_transcript	RRN3P3	HGNC	protein_coding	OTTHUMT00000430087.1	41	0.00	0	T			22444131	22444131	-1	no_errors	ENST00000551766	ensembl	human	known	69_37n	rna	16	36.00	9	SNP	1.000	C
SCRN1	9805	genome.wustl.edu	37	7	30008626	30008626	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr7:30008626C>T	ENST00000426154.1	-	2	234	c.58G>A	c.(58-60)Ggt>Agt	p.G20S	SCRN1_ENST00000409570.1_Missense_Mutation_p.G20S|SCRN1_ENST00000242059.5_Missense_Mutation_p.G20S|SCRN1_ENST00000425819.2_Intron|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409497.1_Missense_Mutation_p.G20S|SCRN1_ENST00000434476.2_Missense_Mutation_p.G40S	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	20					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)	p.G20S(1)|p.G40S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ACCACCAGACCATCCTTAGCA	0.512																																						dbGAP											2	Substitution - Missense(2)	breast(2)											107.0	85.0	93.0					7																	30008626		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.58G>A	7.37:g.30008626C>T	ENSP00000409068:p.Gly20Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	pfam_Peptidase_C69	p.G40S	ENST00000426154.1	37	c.118	CCDS5422.1	7	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518472	0.64634	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000409497;ENST00000434476;ENST00000421434;ENST00000438497;ENST00000409570	T;T;T;T;T;T;T	0.33654	3.17;3.17;3.17;3.12;2.16;1.46;1.4	5.63	4.72	0.59763	.	0.144192	0.48767	N	0.000172	T	0.43077	0.1231	L	0.61218	1.895	0.80722	D	1	B;P	0.38395	0.443;0.629	B;P	0.45232	0.377;0.474	T	0.27191	-1.0081	9	.	.	.	-10.4028	12.4814	0.55844	0.0:0.9151:0.0:0.0849	.	40;20	C9JPG0;Q12765	.;SCRN1_HUMAN	S	20;20;20;40;20;20;20	ENSP00000242059:G20S;ENSP00000409068:G20S;ENSP00000386872:G20S;ENSP00000388942:G40S;ENSP00000413184:G20S;ENSP00000406289:G20S;ENSP00000387052:G20S	.	G	-	1	0	SCRN1	29975151	0.976000	0.34144	0.967000	0.41034	0.954000	0.61252	2.795000	0.47861	1.309000	0.44985	0.555000	0.69702	GGT	SCRN1	-	NULL	ENSG00000136193		0.512	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN1	HGNC	protein_coding	OTTHUMT00000214231.2	268	0.00	0	C	NM_014766		30008626	30008626	-1	no_errors	ENST00000434476	ensembl	human	known	69_37n	missense	97	42.60	72	SNP	0.967	T
SLC22A6	9356	genome.wustl.edu	37	11	62747289	62747289	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr11:62747289T>A	ENST00000377871.3	-	7	1435	c.1169A>T	c.(1168-1170)aAc>aTc	p.N390I	SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000458333.2_Missense_Mutation_p.N390I|SLC22A6_ENST00000421062.2_Missense_Mutation_p.N390I|SLC22A6_ENST00000360421.4_Missense_Mutation_p.N390I	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	390					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.N390I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACCCAGGGAGTTGATGACAAG	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											60.0	58.0	59.0					11																	62747289		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1169A>T	11.37:g.62747289T>A	ENSP00000367102:p.Asn390Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.N390I	ENST00000377871.3	37	c.1169	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883642	0.33255	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.091631	0.85682	D	0.000000	T	0.51176	0.1659	M	0.67953	2.075	0.40990	D	0.984846	B;B;B;B	0.21688	0.059;0.021;0.013;0.01	B;B;B;B	0.20577	0.018;0.018;0.03;0.018	T	0.50021	-0.8876	10	0.27082	T	0.32	.	8.0216	0.30412	0.0:0.0:0.2069:0.793	.	390;390;390;390	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	I	390;369;390;390;390	ENSP00000353597:N390I;ENSP00000367102:N390I;ENSP00000396401:N390I;ENSP00000404441:N390I	ENSP00000353597:N390I	N	-	2	0	SLC22A6	62503865	0.876000	0.30132	0.988000	0.46212	0.996000	0.88848	1.508000	0.35769	1.829000	0.53265	0.459000	0.35465	AAC	SLC22A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197901		0.597	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	89	0.00	0	T	NM_004790		62747289	62747289	-1	no_errors	ENST00000377871	ensembl	human	known	69_37n	missense	48	42.05	37	SNP	0.992	A
TMEM107	84314	genome.wustl.edu	37	17	8076904	8076904	+	IGR	SNP	G	G	T	rs117735243	byFrequency	TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr17:8076904G>T	ENST00000437139.2	-	0	747				SNORD118_ENST00000363593.1_RNA|TMEM107_ENST00000449985.2_3'UTR	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107						cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(1)	6						cccacctgacgatACAGACAA	0.448																																						dbGAP											0													83.0	64.0	70.0					17																	8076904		876	1991	2867	-	-	-	SO:0001628	intergenic_variant	0			AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40			17.37:g.8076904G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	RNA	SNP	-	NULL	ENST00000437139.2	37	NULL	CCDS45607.1	17																																																																																			SNORD118	-	-	ENSG00000200463		0.448	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD118	HGNC	protein_coding	OTTHUMT00000388844.1	152	0.00	0	G	NM_032354		8076904	8076904	-1	no_errors	ENST00000363593	ensembl	human	known	69_37n	rna	63	47.93	58	SNP	1.000	T
SNPH	9751	genome.wustl.edu	37	20	1276924	1276925	+	Intron	INS	-	-	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr20:1276924_1276925insC	ENST00000381873.3	+	3	189				RAD21L1_ENST00000402452.1_Intron|SNPH_ENST00000381867.1_Frame_Shift_Ins_p.GP14fs|RAD21L1_ENST00000381882.2_Intron	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin						brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACGTGGCCTGGCCCGGCCCTTT	0.703																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.-47-44->C	20.37:g.1276927_1276927dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYI3	Frame_Shift_Ins	INS	NULL	p.A16fs	ENST00000381873.3	37	c.41_42	CCDS13012.1	20																																																																																			SNPH	-	NULL	ENSG00000101298		0.703	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNPH	HGNC	protein_coding	OTTHUMT00000145240.2	11	0.00	0	-	NM_014723		1276924	1276925	+1	no_errors	ENST00000381867	ensembl	human	known	69_37n	frame_shift_ins	2	50.00	2	INS	0.967:0.968	C
SOX10	6663	genome.wustl.edu	37	22	38369664	38369664	+	Silent	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr22:38369664G>A	ENST00000396884.2	-	4	1521	c.1239C>T	c.(1237-1239)ggC>ggT	p.G413G	POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_Silent_p.G413G	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	413					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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)|transcription coactivator activity (GO:0003713)	p.G413G(1)		NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GGCCCGAGTGGCCATAATAGG	0.647																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	dbGAP											1	Substitution - coding silent(1)	breast(1)											42.0	47.0	45.0					22																	38369664		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.1239C>T	22.37:g.38369664G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DV62|Q6FHW7	Silent	SNP	pfam_Sox_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.G413	ENST00000396884.2	37	c.1239	CCDS13964.1	22																																																																																			SOX10	-	NULL	ENSG00000100146		0.647	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SOX10	HGNC	protein_coding	OTTHUMT00000313875.1	29	0.00	0	G	NM_006941		38369664	38369664	-1	no_errors	ENST00000360880	ensembl	human	known	69_37n	silent	12	33.33	7	SNP	1.000	A
SP1	6667	genome.wustl.edu	37	12	53776045	53776045	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:53776045A>G	ENST00000327443.4	+	3	412	c.314A>G	c.(313-315)aAt>aGt	p.N105S	SP1_ENST00000426431.2_Missense_Mutation_p.N98S	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	105	Ser/Thr-rich.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N105S(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAGGGTGCCAATGGCTGGCAG	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	71.0	72.0					12																	53776045		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.314A>G	12.37:g.53776045A>G	ENSP00000329357:p.Asn105Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N105S	ENST00000327443.4	37	c.314	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255632	0.59321	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.19394	2.18;2.15	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000020	T	0.38188	0.1031	L	0.52573	1.65	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.18777	-1.0326	10	0.72032	D	0.01	.	12.5676	0.56318	1.0:0.0:0.0:0.0	.	105	P08047	SP1_HUMAN	S	105;98	ENSP00000329357:N105S;ENSP00000404263:N98S	ENSP00000329357:N105S	N	+	2	0	SP1	52062312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.982000	0.93471	1.870000	0.54199	0.383000	0.25322	AAT	SP1	-	NULL	ENSG00000185591		0.557	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	84	0.00	0	A			53776045	53776045	+1	no_errors	ENST00000327443	ensembl	human	known	69_37n	missense	0	100.00	13	SNP	1.000	G
SSTR3	6753	genome.wustl.edu	37	22	37603630	37603630	+	Silent	SNP	C	C	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr22:37603630C>A	ENST00000328544.3	-	2	746	c.213G>T	c.(211-213)cgG>cgT	p.R71R	SSTR3_ENST00000402501.1_Silent_p.R71R	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	71					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.R71R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	TGGCCGTGTGCCGCAGGACCA	0.647																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											85.0	80.0	82.0					22																	37603630		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.213G>T	22.37:g.37603630C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K550|Q53ZR7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_3,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_W_rcpt	p.R71	ENST00000328544.3	37	c.213	CCDS13944.1	22																																																																																			SSTR3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000183473		0.647	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	HGNC	protein_coding	OTTHUMT00000318802.1	31	0.00	0	C			37603630	37603630	-1	no_errors	ENST00000328544	ensembl	human	known	69_37n	silent	7	46.15	6	SNP	1.000	A
STXBP5	134957	genome.wustl.edu	37	6	147655358	147655358	+	Splice_Site	SNP	G	G	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr6:147655358G>C	ENST00000321680.6	+	19	2146	c.2146G>C	c.(2146-2148)Ggt>Cgt	p.G716R	STXBP5_ENST00000179882.6_Splice_Site_p.G387R|STXBP5_ENST00000367480.3_Splice_Site_p.D716H|STXBP5_ENST00000367481.3_Splice_Site_p.A716P	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	716					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.A716P(1)|p.G716R(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCCAACCTCTGGTAATTTGGT	0.313																																						dbGAP											2	Substitution - Missense(2)	breast(2)											131.0	131.0	131.0					6																	147655358		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2146+1G>C	6.37:g.147655358G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.G716R	ENST00000321680.6	37	c.2146	CCDS47499.1	6	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	G|G|G|G	15.41|15.41|15.41|15.41	2.824891|2.824891|2.824891|2.824891	0.50739|0.50739|0.50739|0.50739	.|.|.|.	.|.|.|.	ENSG00000164506|ENSG00000164506|ENSG00000164506|ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000392291|ENST00000367480|ENST00000321680;ENST00000179882|ENST00000367475	T;T|T|T;T|.	0.23348|0.24151|0.23348|.	1.91;1.91|1.87|1.91;1.91|.	5.1|5.1|5.1|5.1	5.1|5.1|5.1|5.1	0.69264|0.69264|0.69264|0.69264	.|.|.|.	.|.|0.103586|.	.|.|0.42420|.	.|.|D|.	.|.|0.000704|.	T|T|T|T	0.57242|0.57242|0.57242|0.57242	0.2040|0.2040|0.2040|0.2040	L|L|L|L	0.40543|0.40543|0.40543|0.40543	1.245|1.245|1.245|1.245	0.80722|0.80722|0.80722|0.80722	D|D|D|D	1|1|1|1	D|.|P;B;D|.	0.53151|.|0.76494|.	0.958|.|0.904;0.077;0.999|.	P|.|P;B;D|.	0.47981|.|0.83275|.	0.563|.|0.625;0.032;0.996|.	T|T|T|T	0.54221|0.54221|0.54221|0.54221	-0.8326|-0.8326|-0.8326|-0.8326	9|7|10|5	0.28530|0.56958|0.12766|.	T|D|T|.	0.3|0.05|0.61|.	.|.|.|.	18.8679|18.8679|18.8679|18.8679	0.92300|0.92300|0.92300|0.92300	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.|.	716|.|57;716;387|.	Q5T5C0-2|.|Q5JRH1;Q5T5C0;B3KXX0|.	.|.|.;STXB5_HUMAN;.|.	P|H|R|S	91;716;76|716|716;387|57	ENSP00000356451:A716P;ENSP00000376112:A76P|ENSP00000356450:D716H|ENSP00000321826:G716R;ENSP00000179882:G387R|.	ENSP00000356449:A91P|ENSP00000356450:D716H|ENSP00000179882:G387R|.	A|D|G|W	+|+|+|+	1|1|1|2	0|0|0|0	STXBP5|STXBP5|STXBP5|STXBP5	147697051|147697051|147697051|147697051	1.000000|1.000000|1.000000|1.000000	0.71417|0.71417|0.71417|0.71417	1.000000|1.000000|1.000000|1.000000	0.80357|0.80357|0.80357|0.80357	0.748000|0.748000|0.748000|0.748000	0.42578|0.42578|0.42578|0.42578	8.938000|8.938000|8.938000|8.938000	0.92943|0.92943|0.92943|0.92943	2.516000|2.516000|2.516000|2.516000	0.84829|0.84829|0.84829|0.84829	0.467000|0.467000|0.467000|0.467000	0.42956|0.42956|0.42956|0.42956	GCA|GAT|GGT|TGG	STXBP5	-	NULL	ENSG00000164506		0.313	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	59	0.00	0	G		Missense_Mutation	147655358	147655358	+1	no_errors	ENST00000321680	ensembl	human	known	69_37n	missense	122	26.51	44	SNP	1.000	C
TAF3	83860	genome.wustl.edu	37	10	8055756	8055756	+	Silent	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr10:8055756G>A	ENST00000344293.5	+	6	2837	c.2631G>A	c.(2629-2631)ggG>ggA	p.G877G		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	877					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.G877G(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTGACGATGGGAGTCCCATGA	0.577																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											152.0	161.0	158.0					10																	8055756		2054	4200	6254	-	-	-	SO:0001819	synonymous_variant	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2631G>A	10.37:g.8055756G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G877	ENST00000344293.5	37	c.2631	CCDS41487.1	10																																																																																			TAF3	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000165632		0.577	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	124	0.00	0	G	NM_031923		8055756	8055756	+1	no_errors	ENST00000344293	ensembl	human	known	69_37n	silent	189	12.50	27	SNP	0.244	A
TET3	200424	genome.wustl.edu	37	2	74275189	74275189	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr2:74275189G>C	ENST00000409262.3	+	1	1740	c.1740G>C	c.(1738-1740)gaG>gaC	p.E580D		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	580					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.E580D(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCAGTTTGAGGCTGAATTTG	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											42.0	47.0	46.0					2																	74275189		1916	4120	6036	-	-	-	SO:0001583	missense	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1740G>C	2.37:g.74275189G>C	ENSP00000386869:p.Glu580Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.E580D	ENST00000409262.3	37	c.1740	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742340	0.49151	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.27256	1.68;2.61	5.23	2.17	0.27698	.	.	.	.	.	T	0.32823	0.0842	L	0.29908	0.895	0.36777	D	0.884136	D	0.76494	0.999	D	0.78314	0.991	T	0.22277	-1.0221	9	0.44086	T	0.13	.	7.7839	0.29080	0.3746:0.0:0.6254:0.0	.	580	O43151	TET3_HUMAN	D	622;580;580	ENSP00000307803:E622D;ENSP00000386869:E580D	ENSP00000233310:E580D	E	+	3	2	TET3	74128697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.787000	0.38704	0.729000	0.32403	0.655000	0.94253	GAG	TET3	-	NULL	ENSG00000187605		0.607	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	62	0.00	0	G			74275189	74275189	+1	no_errors	ENST00000409262	ensembl	human	known	69_37n	missense	43	10.42	5	SNP	1.000	C
TLN1	7094	genome.wustl.edu	37	9	35698399	35698399	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr9:35698399delA	ENST00000314888.9	-	55	7645	c.7292delT	c.(7291-7293)gtafs	p.V2431fs	TLN1_ENST00000540444.1_Frame_Shift_Del_p.V2319fs	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2431	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.V2431fs*23(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGCAGCTACCTGCTTGGC	0.592																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											68.0	55.0	60.0					9																	35698399		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7292delT	9.37:g.35698399delA	ENSP00000316029:p.Val2431fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Frame_Shift_Del	DEL	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.V2431fs	ENST00000314888.9	37	c.7292	CCDS35009.1	9																																																																																			TLN1	-	pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ	ENSG00000137076		0.592	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	34	0.00	0	A	NM_006289		35698399	35698399	-1	no_errors	ENST00000314888	ensembl	human	known	69_37n	frame_shift_del	14	30.00	6	DEL	1.000	-
TMEM132B	114795	genome.wustl.edu	37	12	125834179	125834179	+	Silent	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:125834179C>G	ENST00000299308.3	+	2	242	c.234C>G	c.(232-234)gcC>gcG	p.A78A	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	78						integral component of membrane (GO:0016021)		p.A78A(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCTACCGAGCCAGGACACCCC	0.512																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											103.0	105.0	104.0					12																	125834179		1874	4112	5986	-	-	-	SO:0001819	synonymous_variant	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.234C>G	12.37:g.125834179C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	NULL	p.A78	ENST00000299308.3	37	c.234	CCDS41859.1	12																																																																																			TMEM132B	-	NULL	ENSG00000139364		0.512	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	363	0.00	0	C	NM_052907		125834179	125834179	+1	no_errors	ENST00000299308	ensembl	human	known	69_37n	silent	226	38.32	141	SNP	0.996	G
TNFRSF19	55504	genome.wustl.edu	37	13	24243187	24243187	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr13:24243187A>T	ENST00000382258.4	+	9	1400	c.1196A>T	c.(1195-1197)gAt>gTt	p.D399V	TNFRSF19_ENST00000382263.3_Missense_Mutation_p.D399V|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.D399V|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.D267V	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	399					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.D399V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGCCAGCTAGATCAGGAGAGT	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											68.0	62.0	64.0					13																	24243187		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.1196A>T	13.37:g.24243187A>T	ENSP00000371693:p.Asp399Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19	p.D399V	ENST00000382258.4	37	c.1196	CCDS9302.1	13	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964820	0.34659	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.79033	-1.22;1.38;-1.23;-1.22	5.71	-11.4	0.00090	.	1.724540	0.02834	N	0.127066	T	0.60521	0.2275	N	0.14661	0.345	0.09310	N	1	B;B;B	0.22983	0.078;0.078;0.078	B;B;B	0.24541	0.054;0.021;0.021	T	0.55335	-0.8157	10	0.56958	D	0.05	0.5934	13.5715	0.61849	0.2139:0.1904:0.5958:0.0	.	267;399;399	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	V	399;267;399;399	ENSP00000248484:D399V;ENSP00000385408:D267V;ENSP00000371693:D399V;ENSP00000371698:D399V	ENSP00000248484:D399V	D	+	2	0	TNFRSF19	23141187	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.450000	0.06803	-2.330000	0.00633	-1.064000	0.02280	GAT	TNFRSF19	-	NULL	ENSG00000127863		0.473	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	TNFRSF19	HGNC	protein_coding	OTTHUMT00000044156.2	80	0.00	0	A	NM_018647		24243187	24243187	+1	no_errors	ENST00000382258	ensembl	human	known	69_37n	missense	73	55.21	90	SNP	0.000	T
TP53	7157	genome.wustl.edu	37	17	7578416	7578419	+	Frame_Shift_Del	DEL	CCTC	CCTC	-	rs587781845		TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	CCTC	CCTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr17:7578416_7578419delCCTC	ENST00000269305.4	-	5	700_703	c.511_514delGAGG	c.(511-516)gaggttfs	p.EV171fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Frame_Shift_Del_p.EV171fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.EV171fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.EV171fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.EV171fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.EV171fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V172F(14)|p.E171K(11)|p.E171*(10)|p.0?(8)|p.V172I(7)|p.V172fs*2(4)|p.E171Q(4)|p.E171G(3)|p.E171fs*2(3)|p.E171D(2)|p.E171fs*3(2)|p.E171V(2)|p.V173fs*59(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V172_E180delVVRRCPHHE(1)|p.V40F(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.E171fs*9(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171A(1)|p.V79F(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGCCTCACAACCTCCGTCATGTGC	0.667		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	97	Substitution - Missense(48)|Deletion - Frameshift(21)|Substitution - Nonsense(10)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(3)|Insertion - In frame(1)	lung(14)|breast(14)|large_intestine(12)|urinary_tract(10)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(6)|liver(5)|stomach(4)|central_nervous_system(4)|skin(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|thyroid(1)|kidney(1)|endometrium(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.511_514delGAGG	17.37:g.7578416_7578419delCCTC	ENSP00000269305:p.Glu171fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E171fs	ENST00000269305.4	37	c.514_511	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.667	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	122	0.00	0	CCTC	NM_000546		7578416	7578419	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	20	80.73	88	DEL	1.000:1.000:1.000:1.000	-
TRERF1	55809	genome.wustl.edu	37	6	42231282	42231282	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr6:42231282G>T	ENST00000372922.4	-	8	2222	c.1660C>A	c.(1660-1662)Cct>Act	p.P554T	TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000541110.1_Missense_Mutation_p.P554T	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	554	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P554T(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			tggggctgaggcggCAGGACC	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											43.0	39.0	40.0					6																	42231282		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1660C>A	6.37:g.42231282G>T	ENSP00000362013:p.Pro554Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.P554T	ENST00000372922.4	37	c.1660	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388436	0.61956	.	.	ENSG00000124496	ENST00000541110;ENST00000372922	T;T	0.11169	2.8;2.86	4.58	4.58	0.56647	.	0.151049	0.31188	N	0.008084	T	0.02342	0.0072	N	0.24115	0.695	0.80722	D	1	P;P	0.41673	0.759;0.759	B;B	0.32289	0.143;0.143	T	0.52087	-0.8622	10	0.15499	T	0.54	-4.0241	12.7273	0.57178	0.0:0.0:1.0:0.0	.	554;554	Q05GC8;Q96PN7	.;TREF1_HUMAN	T	554	ENSP00000439689:P554T;ENSP00000362013:P554T	ENSP00000362013:P554T	P	-	1	0	TRERF1	42339260	.	.	0.998000	0.56505	0.953000	0.61014	.	.	2.358000	0.79984	0.561000	0.74099	CCT	TRERF1	-	NULL	ENSG00000124496		0.622	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	69	0.00	0	G	NM_033502		42231282	42231282	-1	no_errors	ENST00000541110	ensembl	human	known	69_37n	missense	57	16.18	11	SNP	0.998	T
TRHDE	29953	genome.wustl.edu	37	12	73014965	73014965	+	Silent	SNP	T	T	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:73014965T>C	ENST00000261180.4	+	14	2508	c.2412T>C	c.(2410-2412)gtT>gtC	p.V804V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	804					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V804V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GATCTCTTGTTCAAGCATCCT	0.333																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											115.0	104.0	108.0					12																	73014965		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2412T>C	12.37:g.73014965T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL19|Q6UWJ4	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.V804	ENST00000261180.4	37	c.2412	CCDS9004.1	12																																																																																			TRHDE	-	NULL	ENSG00000072657		0.333	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	155	0.00	0	T	NM_013381		73014965	73014965	+1	no_errors	ENST00000261180	ensembl	human	known	69_37n	silent	119	41.67	85	SNP	1.000	C
TRIM23	373	genome.wustl.edu	37	5	64913932	64913932	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr5:64913932C>G	ENST00000231524.9	-	2	603	c.232G>C	c.(232-234)Gta>Cta	p.V78L	TRIM23_ENST00000274327.7_Missense_Mutation_p.V78L|TRIM23_ENST00000381018.3_Missense_Mutation_p.V78L	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	78					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V78L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AGGTCTGTTACTTGTCGATCA	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											120.0	115.0	117.0					5																	64913932		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.232G>C	5.37:g.64913932C>G	ENSP00000231524:p.Val78Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,tigrfam_Small_GTP-bd_dom	p.V78L	ENST00000231524.9	37	c.232	CCDS3987.1	5	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897337	0.72639	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.93076	-3.16;-3.16;-3.16	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.89660	0.6779	L	0.33293	1	0.58432	D	0.999999	B;B;B	0.19706	0.009;0.038;0.015	B;B;B	0.13407	0.002;0.009;0.004	D	0.85673	0.1296	10	0.41790	T	0.15	.	17.3222	0.87239	0.0:1.0:0.0:0.0	.	78;78;78	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	L	78	ENSP00000231524:V78L;ENSP00000370406:V78L;ENSP00000274327:V78L	ENSP00000231524:V78L	V	-	1	0	TRIM23	64949688	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.732000	0.68563	2.517000	0.84864	0.467000	0.42956	GTA	TRIM23	-	NULL	ENSG00000113595		0.408	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM23	HGNC	protein_coding	OTTHUMT00000215058.2	102	0.00	0	C	NM_001656		64913932	64913932	-1	no_errors	ENST00000231524	ensembl	human	known	69_37n	missense	7	88.52	54	SNP	1.000	G
TRIM60	166655	genome.wustl.edu	37	4	165961479	165961479	+	Silent	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr4:165961479G>A	ENST00000512596.1	+	3	471	c.255G>A	c.(253-255)agG>agA	p.R85R	TRIM60_ENST00000341062.5_Silent_p.R85R|TRIM60_ENST00000508504.1_Silent_p.R85R	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	85						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R85R(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGATTAGGAGGAGCAAGAGAA	0.438																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											71.0	70.0	71.0					4																	165961479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.255G>A	4.37:g.165961479G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NA35	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R85	ENST00000512596.1	37	c.255	CCDS3808.1	4																																																																																			TRIM60	-	NULL	ENSG00000176979		0.438	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM60	HGNC	protein_coding	OTTHUMT00000364325.1	152	0.00	0	G	NM_152620		165961479	165961479	+1	no_errors	ENST00000341062	ensembl	human	known	69_37n	silent	25	75.25	76	SNP	0.833	A
TROAP	10024	genome.wustl.edu	37	12	49717740	49717740	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr12:49717740G>T	ENST00000257909.3	+	3	333	c.257G>T	c.(256-258)aGt>aTt	p.S86I	TROAP_ENST00000380327.5_Missense_Mutation_p.S86I|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000548311.1_Missense_Mutation_p.S86I|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000550709.1_Missense_Mutation_p.S86I|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000551245.1_Missense_Mutation_p.S86I|TROAP_ENST00000547923.1_5'Flank	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	86					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.S86I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTGGGGATCAGTCAGCCTCGG	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											92.0	89.0	90.0					12																	49717740		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.257G>T	12.37:g.49717740G>T	ENSP00000257909:p.Ser86Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	NULL	p.S86I	ENST00000257909.3	37	c.257	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	C	2.908	-0.225969	0.06022	.	.	ENSG00000135451	ENST00000551245;ENST00000380327;ENST00000548311;ENST00000550709;ENST00000257909;ENST00000547807;ENST00000551567	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.68	2.85	0.33270	.	0.818152	0.10796	N	0.633256	T	0.16685	0.0401	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.28324	0.0;0.207;0.0;0.002	B;B;B;B	0.30646	0.001;0.118;0.001;0.002	T	0.26538	-1.0100	10	0.72032	D	0.01	-0.0107	5.3109	0.15829	0.0:0.6153:0.1574:0.2273	.	86;86;86;86	F8W130;Q12815;Q6PJU7;F8VSF9	.;TROAP_HUMAN;.;.	I	86	ENSP00000447509:S86I;ENSP00000369684:S86I;ENSP00000448313:S86I;ENSP00000449984:S86I;ENSP00000257909:S86I;ENSP00000446646:S86I;ENSP00000447244:S86I	ENSP00000257909:S86I	S	+	2	0	TROAP	48004007	0.273000	0.24181	0.235000	0.24058	0.015000	0.08874	0.677000	0.25262	0.766000	0.33244	-0.120000	0.15030	AGT	TROAP	-	NULL	ENSG00000135451		0.597	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	244	0.41	1	G	NM_005480		49717740	49717740	+1	no_errors	ENST00000257909	ensembl	human	known	69_37n	missense	25	77.68	87	SNP	0.015	T
TRUB1	142940	genome.wustl.edu	37	10	116710862	116710862	+	Missense_Mutation	SNP	T	T	A	rs201362858		TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr10:116710862T>A	ENST00000298746.3	+	3	456	c.395T>A	c.(394-396)aTt>aAt	p.I132N	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	132					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.I132N(1)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GTTGTTGGAATTGGAAGCGGA	0.308																																						dbGAP											1	Substitution - Missense(1)	breast(1)											186.0	187.0	187.0					10																	116710862		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.395T>A	10.37:g.116710862T>A	ENSP00000298746:p.Ile132Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R716|Q53ES2	Missense_Mutation	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB	p.I132N	ENST00000298746.3	37	c.395	CCDS7591.1	10	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804809	0.70682	.	.	ENSG00000165832	ENST00000298746	T	0.55234	0.53	5.42	5.42	0.78866	Pseudouridine synthase, catalytic domain (1);	0.105548	0.64402	D	0.000004	T	0.74665	0.3746	M	0.88906	2.99	0.45777	D	0.998665	D	0.60160	0.987	D	0.68192	0.956	T	0.79831	-0.1637	10	0.87932	D	0	-12.5453	12.131	0.53942	0.0:0.0:0.0:1.0	.	132	Q8WWH5	TRUB1_HUMAN	N	132	ENSP00000298746:I132N	ENSP00000298746:I132N	I	+	2	0	TRUB1	116700852	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.004000	0.63966	2.172000	0.68678	0.482000	0.46254	ATT	TRUB1	-	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB	ENSG00000165832		0.308	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB1	HGNC	protein_coding	OTTHUMT00000050504.1	267	0.00	0	T	NM_139169		116710862	116710862	+1	no_errors	ENST00000298746	ensembl	human	known	69_37n	missense	209	63.59	365	SNP	1.000	A
TSHZ2	128553	genome.wustl.edu	37	20	51872574	51872574	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr20:51872574G>T	ENST00000371497.5	+	2	3464	c.2577G>T	c.(2575-2577)caG>caT	p.Q859H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.Q856H|TSHZ2_ENST00000603338.2_Missense_Mutation_p.Q856H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	859					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q859H(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TACAAGCCCAGTTTGCCTCGA	0.493																																						dbGAP											1	Substitution - Missense(1)	breast(1)											60.0	61.0	60.0					20																	51872574		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2577G>T	20.37:g.51872574G>T	ENSP00000360552:p.Gln859His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.Q859H	ENST00000371497.5	37	c.2577	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	15.58	2.877051	0.51801	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.26067	1.77;1.76	5.52	5.52	0.82312	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.48370	0.1496	L	0.49126	1.545	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.44375	-0.9332	10	0.87932	D	0	-8.2039	19.4542	0.94880	0.0:0.0:1.0:0.0	.	859	Q9NRE2	TSH2_HUMAN	H	859;856;385	ENSP00000360552:Q859H;ENSP00000333114:Q856H	ENSP00000333114:Q856H	Q	+	3	2	TSHZ2	51305981	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	4.618000	0.61211	2.592000	0.87571	0.643000	0.83706	CAG	TSHZ2	-	superfamily_Homeodomain-like,smart_Homeodomain	ENSG00000182463		0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	282	0.00	0	G	NM_173485		51872574	51872574	+1	no_errors	ENST00000371497	ensembl	human	known	69_37n	missense	29	80.41	119	SNP	1.000	T
TXN2	25828	genome.wustl.edu	37	22	36872855	36872855	+	Silent	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr22:36872855C>G	ENST00000216185.2	-	3	778	c.312G>C	c.(310-312)gtG>gtC	p.V104V	TXN2_ENST00000403313.1_Silent_p.V104V|TXN2_ENST00000416967.1_Silent_p.V2V|TXN2_ENST00000487725.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	104	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)	p.V104V(2)		breast(1)|lung(1)|prostate(1)	3						GCTGCTTGGCCACCATCTTCT	0.542																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											240.0	184.0	203.0					22																	36872855		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.312G>C	22.37:g.36872855C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZA0|Q6FH60|Q9UH29	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Thioredoxin	p.V104	ENST00000216185.2	37	c.312	CCDS13928.1	22																																																																																			TXN2	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Thioredoxin	ENSG00000100348		0.542	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXN2	HGNC	protein_coding	OTTHUMT00000319016.1	270	0.00	0	C	NM_012473		36872855	36872855	-1	no_errors	ENST00000216185	ensembl	human	known	69_37n	silent	117	43.81	92	SNP	1.000	G
UBE2J1	51465	genome.wustl.edu	37	6	90045151	90045151	+	Splice_Site	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr6:90045151C>G	ENST00000435041.2	-	6	707		c.e6-1			NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.?(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		ATCTTGTGATCTAGTAGAAAA	0.363																																						dbGAP											1	Unknown(1)	breast(1)											51.0	52.0	52.0					6																	90045151		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.429-1G>C	6.37:g.90045151C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Splice_Site	SNP	-	e6-1	ENST00000435041.2	37	c.429-1	CCDS5021.1	6	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153406	0.78114	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBE2J1	90101870	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.597000	0.74118	2.821000	0.97095	0.555000	0.69702	.	UBE2J1	-	-	ENSG00000198833		0.363	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2J1	HGNC	protein_coding	OTTHUMT00000043742.2	59	0.00	0	C	NM_016021	Intron	90045151	90045151	-1	no_errors	ENST00000435041	ensembl	human	known	69_37n	splice_site	122	22.29	35	SNP	1.000	G
UNC5D	137970	genome.wustl.edu	37	8	35608123	35608123	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr8:35608123A>T	ENST00000404895.2	+	13	2287	c.1959A>T	c.(1957-1959)gaA>gaT	p.E653D	UNC5D_ENST00000449677.1_Missense_Mutation_p.E229D|UNC5D_ENST00000453357.2_Missense_Mutation_p.E648D|UNC5D_ENST00000287272.2_Missense_Mutation_p.E584D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E658D|UNC5D_ENST00000420357.1_Missense_Mutation_p.E586D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	653					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E648D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGAAGATGAATCTACATCCT	0.448																																						dbGAP											1	Substitution - Missense(1)	breast(1)											217.0	180.0	193.0					8																	35608123		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1959A>T	8.37:g.35608123A>T	ENSP00000385143:p.Glu653Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.E653D	ENST00000404895.2	37	c.1959	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199283	0.79015	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.59364	0.29;0.71;0.69;0.3;0.27;2.17	5.9	0.849	0.18972	.	0.000000	0.85682	D	0.000000	T	0.70894	0.3276	M	0.75777	2.31	0.54753	D	0.999984	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.78314	0.991;0.99;0.978	T	0.69327	-0.5174	10	0.62326	D	0.03	-22.0044	10.0365	0.42131	0.6745:0.0:0.3255:0.0	.	229;648;653	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	D	653;586;584;658;648;229	ENSP00000385143:E653D;ENSP00000392739:E586D;ENSP00000287272:E584D;ENSP00000412652:E658D;ENSP00000394303:E648D;ENSP00000397211:E229D	ENSP00000287272:E584D	E	+	3	2	UNC5D	35727665	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.078000	0.41567	-0.048000	0.13401	0.533000	0.62120	GAA	UNC5D	-	NULL	ENSG00000156687		0.448	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	233	0.00	0	A			35608123	35608123	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	missense	135	42.55	100	SNP	1.000	T
USP36	57602	genome.wustl.edu	37	17	76795831	76795831	+	Silent	SNP	A	A	T			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr17:76795831A>T	ENST00000542802.3	-	18	3485	c.3042T>A	c.(3040-3042)ccT>ccA	p.P1014P	USP36_ENST00000312010.6_Silent_p.P1014P|USP36_ENST00000449938.2_Silent_p.P619P			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1012					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.P1014P(1)|p.S1014S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCCAAGACACAGGAGGGGCCT	0.473																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											80.0	81.0	81.0					17																	76795831		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.3042T>A	17.37:g.76795831A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.P1014	ENST00000542802.3	37	c.3042	CCDS32755.1	17																																																																																			USP36	-	NULL	ENSG00000055483		0.473	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	132	0.00	0	A	NM_025090		76795831	76795831	-1	no_errors	ENST00000312010	ensembl	human	known	69_37n	silent	34	32.00	16	SNP	0.000	T
VCPIP1	80124	genome.wustl.edu	37	8	67547576	67547576	+	Silent	SNP	T	T	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr8:67547576T>C	ENST00000310421.4	-	3	3087	c.2829A>G	c.(2827-2829)ccA>ccG	p.P943P		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	943					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.P943P(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CAGGCAGATGTGGAAAAGTAC	0.373																																					NSCLC(179;265 2915 6144 43644)	dbGAP											1	Substitution - coding silent(1)	breast(1)											61.0	58.0	59.0					8																	67547576		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2829A>G	8.37:g.67547576T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	pfam_OTU,pfscan_OTU	p.P943	ENST00000310421.4	37	c.2829	CCDS6192.1	8																																																																																			VCPIP1	-	NULL	ENSG00000175073		0.373	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	162	0.00	0	T			67547576	67547576	-1	no_errors	ENST00000310421	ensembl	human	known	69_37n	silent	126	36.14	73	SNP	1.000	C
WBP1L	54838	genome.wustl.edu	37	10	104557756	104557756	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr10:104557756G>A	ENST00000369889.4	+	2	176	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	WBP1L_ENST00000448841.1_Missense_Mutation_p.E33K	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	12						integral component of membrane (GO:0016021)		p.E12K(1)									TTAGGATAAGGAAGCCTGTGT	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											145.0	136.0	139.0					10																	104557756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"""outcome predictor in acute leukemia 1"""	611129	"""chromosome 10 open reading frame 26"""	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.34G>A	10.37:g.104557756G>A	ENSP00000358905:p.Glu12Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	Missense_Mutation	SNP	pfam_Uncharacterised_WW-bd	p.E33K	ENST00000369889.4	37	c.97	CCDS7540.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.139253	0.94560	.	.	ENSG00000166272	ENST00000448841;ENST00000369889	T;T	0.35605	1.35;1.3	5.6	5.6	0.85130	.	0.182023	0.49305	D	0.000142	T	0.56441	0.1985	L	0.51422	1.61	0.52501	D	0.999958	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.989	T	0.55055	-0.8200	10	0.59425	D	0.04	-13.0298	18.4493	0.90697	0.0:0.0:1.0:0.0	.	33;12	Q9NX94-2;Q9NX94	.;OPA1L_HUMAN	K	33;12	ENSP00000414721:E33K;ENSP00000358905:E12K	ENSP00000358905:E12K	E	+	1	0	C10orf26	104547746	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.120000	0.50430	2.664000	0.90586	0.456000	0.33151	GAA	WBP1L	-	NULL	ENSG00000166272		0.413	WBP1L-001	KNOWN	basic|CCDS	protein_coding	WBP1L	HGNC	protein_coding	OTTHUMT00000050100.1	145	0.00	0	G	NM_017787		104557756	104557756	+1	no_errors	ENST00000448841	ensembl	human	known	69_37n	missense	198	26.30	71	SNP	1.000	A
WBSCR17	64409	genome.wustl.edu	37	7	71175821	71175821	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr7:71175821T>G	ENST00000333538.5	+	10	2210	c.1576T>G	c.(1576-1578)Tgc>Ggc	p.C526G	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	526	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.C526G(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGACACCCGCTGCCTGGTGGA	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											75.0	70.0	72.0					7																	71175821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1576T>G	7.37:g.71175821T>G	ENSP00000329654:p.Cys526Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.C526G	ENST00000333538.5	37	c.1576	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124920	0.77436	.	.	ENSG00000185274	ENST00000333538	T	0.60548	0.18	5.28	5.28	0.74379	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.89353	3.025	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.83505	0.0077	10	0.87932	D	0	.	14.1904	0.65635	0.0:0.0:0.0:1.0	.	526	Q6IS24	GLTL3_HUMAN	G	526	ENSP00000329654:C526G	ENSP00000329654:C526G	C	+	1	0	WBSCR17	70813757	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.248000	0.72418	2.217000	0.71921	0.533000	0.62120	TGC	WBSCR17	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000185274		0.622	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	207	0.48	1	T	NM_022479		71175821	71175821	+1	no_errors	ENST00000333538	ensembl	human	known	69_37n	missense	67	43.80	53	SNP	1.000	G
XIRP1	165904	genome.wustl.edu	37	3	39228482	39228482	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr3:39228482T>G	ENST00000340369.3	-	2	2683	c.2455A>C	c.(2455-2457)Aag>Cag	p.K819Q	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.K819Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	819					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.K819Q(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGCTCCTCCTTTCGTATATAA	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											64.0	64.0	64.0					3																	39228482		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2455A>C	3.37:g.39228482T>G	ENSP00000343140:p.Lys819Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.K819Q	ENST00000340369.3	37	c.2455	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157271	0.57259	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.10477	2.87;3.17	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.02901	-1.1096	10	0.87932	D	0	.	11.8675	0.52501	0.0:0.0:0.0:1.0	.	819;819	Q702N8;Q702N8-2	XIRP1_HUMAN;.	Q	819	ENSP00000379550:K819Q;ENSP00000343140:K819Q	ENSP00000343140:K819Q	K	-	1	0	XIRP1	39203486	1.000000	0.71417	0.952000	0.39060	0.457000	0.32468	5.161000	0.64935	1.991000	0.58162	0.460000	0.39030	AAG	XIRP1	-	NULL	ENSG00000168334		0.617	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	117	0.00	0	T	XM_093522		39228482	39228482	-1	no_errors	ENST00000340369	ensembl	human	known	69_37n	missense	29	46.30	25	SNP	0.997	G
ZCCHC6	79670	genome.wustl.edu	37	9	88932177	88932177	+	Silent	SNP	G	G	C			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr9:88932177G>C	ENST00000375963.3	-	17	3403	c.3231C>G	c.(3229-3231)gtC>gtG	p.V1077V	ZCCHC6_ENST00000277141.6_Silent_p.V366V|ZCCHC6_ENST00000375961.2_Silent_p.V1077V|ZCCHC6_ENST00000375957.1_Silent_p.V15V|ZCCHC6_ENST00000375960.2_Silent_p.V841V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1077					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.V1077V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CAATAGTTCTGACACAGTCCA	0.333																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											86.0	91.0	89.0					9																	88932177		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3231C>G	9.37:g.88932177G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V1077	ENST00000375963.3	37	c.3231	CCDS35057.1	9																																																																																			ZCCHC6	-	NULL	ENSG00000083223		0.333	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	146	0.00	0	G	NM_024617		88932177	88932177	-1	no_errors	ENST00000375963	ensembl	human	known	69_37n	silent	114	14.29	19	SNP	0.966	C
ZNF487	642819	genome.wustl.edu	37	10	43977890	43977890	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr10:43977890G>A	ENST00000431662.1	+	5	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N	ZNF487_ENST00000437590.2_3'UTR			B1APH4	ZN487_HUMAN	zinc finger protein 487	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D269N(1)									AAAACTTTTGGATATAGGTCA	0.398																																						dbGAP											1	Substitution - Missense(1)	breast(1)																																								-	-	-	SO:0001583	missense	0					10q11.21	2013-06-03	2013-03-06	2013-03-06	ENSG00000243660	ENSG00000243660			23488	other	unknown			"""KRAB domain only 1"", ""zinc finger protein 487, pseudogene"""	KRBO1, ZNF487P			Standard	NR_026693		Approved			B1APH4	OTTHUMG00000185507	ENST00000431662.1:c.805G>A	10.37:g.43977890G>A	ENSP00000388421:p.Asp269Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APH5|B7Z7S5	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D269N	ENST00000431662.1	37	c.805		10	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803110	0.16397	.	.	ENSG00000243660	ENST00000431662	T	0.04317	3.65	1.78	-0.276	0.12902	.	.	.	.	.	T	0.03959	0.0111	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45440	-0.9261	6	0.30854	T	0.27	.	4.3437	0.11122	0.1591:0.4657:0.3752:0.0	.	.	.	.	N	269	ENSP00000388421:D269N	ENSP00000388421:D269N	D	+	1	0	ZNF487P	43297896	0.000000	0.05858	0.003000	0.11579	0.921000	0.55340	-4.429000	0.00235	-0.053000	0.13289	0.454000	0.30748	GAT	ZNF487P	-	NULL	ENSG00000243660		0.398	ZNF487-201	KNOWN	basic|appris_principal	protein_coding	ZNF487P	HGNC	protein_coding		42	0.00	0	G	XM_926224		43977890	43977890	+1	no_errors	ENST00000431662	ensembl	human	known	69_37n	missense	32	65.59	61	SNP	0.001	A
AC006116.24	0	genome.wustl.edu	37	19	56888646	56888646	+	RNA	SNP	C	C	G			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr19:56888646C>G	ENST00000591836.1	-	0	7				ZNF542_ENST00000490123.1_RNA																							TCAGACTACACATACGAGAGA	0.443																																						dbGAP											0																																										-	-	-			0																															19.37:g.56888646C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000591836.1	37	NULL		19																																																																																			ZNF542	-	-	ENSG00000240225		0.443	AC006116.24-001	KNOWN	basic	sense_intronic	ZNF542	HGNC	sense_intronic	OTTHUMT00000459747.1	21	0.00	0	C			56888646	56888646	+1	no_errors	ENST00000467807	ensembl	human	known	69_37n	rna	14	33.33	7	SNP	0.559	G
ZNF716	441234	genome.wustl.edu	37	7	57529139	57529139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A0AR-01A-11W-A019-09	TCGA-AN-A0AR-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a2d77acd-89db-4d2d-89d7-d1cc58cf576b	75042bcc-6363-44b2-97bd-c51d3789ce67	g.chr7:57529139C>A	ENST00000420713.1	+	4	1084	c.972C>A	c.(970-972)taC>taA	p.Y324*		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y324*(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGAGACCCTACAAATGTGAAG	0.418																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											30.0	31.0	31.0					7																	57529139		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.972C>A	7.37:g.57529139C>A	ENSP00000394248:p.Tyr324*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y324*	ENST00000420713.1	37	c.972	CCDS55112.1	7	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126153	0.37533	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	.	.	.	0.109	0.109	0.14578	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9913	0.19465	0.0:0.9994:0.0:6.0E-4	.	.	.	.	X	324;312	.	ENSP00000387687:Y312X	Y	+	3	2	ZNF716	57533081	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-0.492000	0.06467	0.181000	0.19994	0.184000	0.17185	TAC	ZNF716	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182111		0.418	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	HGNC	protein_coding	OTTHUMT00000345309.1	238	0.00	0	C	NM_001159279		57529139	57529139	+1	no_errors	ENST00000420713	ensembl	human	known	69_37n	nonsense	183	41.72	131	SNP	0.036	A
