#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CNGB1	1258	genome.wustl.edu	37	16	57951250	57951250	+	Silent	SNP	G	G	A			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr16:57951250G>A	ENST00000251102.8	-	21	2148	c.2088C>T	c.(2086-2088)taC>taT	p.Y696Y	CNGB1_ENST00000564448.1_Silent_p.Y690Y	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	696					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.Y696Y(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGTCGCATAGGTAATCCATCA	0.567																																					Colon(156;1293 1853 16336 28962 38659)	dbGAP											1	Substitution - coding silent(1)	breast(1)											86.0	93.0	91.0					16																	57951250		2088	4208	6296	-	-	-	SO:0001819	synonymous_variant	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2088C>T	16.37:g.57951250G>A			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.Y696	ENST00000251102.8	37	c.2088	CCDS42169.1	16																																																																																			CNGB1	-	NULL	ENSG00000070729		0.567	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	74	0.00	0	G	NM_001297		57951250	57951250	-1	no_errors	ENST00000251102	ensembl	human	known	69_37n	silent	55	39.13	36	SNP	1.000	A
CBFB	865	genome.wustl.edu	37	16	67100664	67100664	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr16:67100664G>A	ENST00000290858.6	+	4	623	c.362G>A	c.(361-363)gGt>gAt	p.G121D	CBFB_ENST00000412916.2_Missense_Mutation_p.G121D|CBFB_ENST00000561924.2_Missense_Mutation_p.G21D	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	121					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.G121D(1)		breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		AGACTGGATGGTATGGGCTGT	0.468			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	1	Substitution - Missense(1)	breast(1)											151.0	129.0	137.0					16																	67100664		2200	4300	6500	-	-	-	SO:0001583	missense	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.362G>A	16.37:g.67100664G>A	ENSP00000290858:p.Gly121Asp		A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	pfam_CBF_beta,superfamily_CBF_beta	p.G121D	ENST00000290858.6	37	c.362	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369007	0.61624	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83252	0.5214	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85126	0.0972	9	0.87932	D	0	-18.1405	18.1601	0.89705	0.0:0.0:1.0:0.0	.	121;121	Q13951-2;Q13951	.;PEBB_HUMAN	D	121	.	ENSP00000290858:G121D	G	+	2	0	CBFB	65658165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.578000	0.98200	2.648000	0.89879	0.561000	0.74099	GGT	CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.468	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	56	0.00	0	G	NM_001755		67100664	67100664	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	missense	43	46.91	38	SNP	1.000	A
CSNK1G3	1456	genome.wustl.edu	37	5	122911423	122911423	+	Splice_Site	SNP	A	A	G			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr5:122911423A>G	ENST00000361991.2	+	5	469	c.439A>G	c.(439-441)Att>Gtt	p.I147V	CSNK1G3_ENST00000521364.1_Splice_Site_p.I147V|CSNK1G3_ENST00000360683.2_Splice_Site_p.I147V|CSNK1G3_ENST00000345990.4_Splice_Site_p.I147V|CSNK1G3_ENST00000511130.2_Splice_Site_p.I34V|CSNK1G3_ENST00000512718.3_Splice_Site_p.I72V|CSNK1G3_ENST00000510842.2_Splice_Site_p.I147V|CSNK1G3_ENST00000395411.1_Splice_Site_p.I147V|CSNK1G3_ENST00000395412.1_Splice_Site_p.I147V			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I147V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAAACCAAGATTTCTCGCAT	0.343																																					Pancreas(187;2868 2964 4353 6297)	dbGAP											1	Substitution - Missense(1)	breast(1)											41.0	41.0	41.0					5																	122911423		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.439-1A>G	5.37:g.122911423A>G			A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,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.I147V	ENST00000361991.2	37	c.439	CCDS4135.1	5	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812431	0.32053	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000511130;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11	4.85	3.66	0.41972	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155979	0.42053	D	0.000770	T	0.21227	0.0511	L	0.53671	1.685	0.53688	D	0.999974	B;B;B;B;B;B	0.15719	0.002;0.003;0.003;0.003;0.014;0.009	B;B;B;B;B;B	0.24006	0.027;0.027;0.05;0.016;0.05;0.03	T	0.03493	-1.1031	9	.	.	.	.	12.0514	0.53509	0.8554:0.1446:0.0:0.0	.	72;147;34;147;147;147	B4DSH2;A8K040;E7EVD0;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;.;KC1G3_HUMAN;.	V	147;147;147;34;72;147;147;147;147	ENSP00000378807:I147V;ENSP00000378806:I147V;ENSP00000334735:I147V;ENSP00000421385:I34V;ENSP00000421998:I72V;ENSP00000429412:I147V;ENSP00000423838:I147V;ENSP00000354942:I147V;ENSP00000353904:I147V	.	I	+	1	0	CSNK1G3	122939322	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	8.803000	0.91915	0.928000	0.37168	-0.321000	0.08615	ATT	CSNK1G3	-	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	ENSG00000151292		0.343	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSNK1G3	HGNC	protein_coding	OTTHUMT00000250900.1	280	0.00	0	A	NM_004384	Missense_Mutation	122911423	122911423	+1	no_errors	ENST00000360683	ensembl	human	known	69_37n	missense	228	32.14	108	SNP	1.000	G
GGT1	2678	genome.wustl.edu	37	22	25023893	25023893	+	Missense_Mutation	SNP	G	G	A	rs201313233	byFrequency	TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr22:25023893G>A	ENST00000400382.1	+	13	2038	c.1283G>A	c.(1282-1284)aGc>aAc	p.S428N	GGT1_ENST00000404223.1_Missense_Mutation_p.S84N|GGT1_ENST00000400380.1_Missense_Mutation_p.S428N|GGT1_ENST00000400383.1_Missense_Mutation_p.S428N|GGT1_ENST00000403838.1_Missense_Mutation_p.S84N|GGT1_ENST00000248923.4_Missense_Mutation_p.S428N|GGT1_ENST00000401885.1_Missense_Mutation_p.S84N|GGT1_ENST00000406383.2_Missense_Mutation_p.S428N|GGT1_ENST00000404532.1_Missense_Mutation_p.S84N|GGT1_ENST00000404920.1_Missense_Mutation_p.S84N|GGT1_ENST00000466310.1_3'UTR			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	428					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.S428N(8)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AGCTCTCCCAGCATCACCAAC	0.617																																						dbGAP											8	Substitution - Missense(8)	kidney(7)|skin(1)											75.0	81.0	79.0					22																	25023893		2203	4300	6503	-	-	-	SO:0001583	missense	0			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1283G>A	22.37:g.25023893G>A	ENSP00000383232:p.Ser428Asn		Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase	p.S428N	ENST00000400382.1	37	c.1283	CCDS42992.1	22	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.994474	0.00435	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18;3.18	3.49	0.971	0.19698	.	0.677608	0.14536	N	0.313585	T	0.01800	0.0057	N	0.00855	-1.145	0.19300	N	0.999979	B	0.02656	0.0	B	0.06405	0.002	T	0.44757	-0.9307	10	0.08179	T	0.78	-26.6577	2.7873	0.05377	0.5605:0.0:0.2509:0.1886	.	428	P19440	GGT1_HUMAN	N	428;428;428;428;428;428;84;84;84;84;84	ENSP00000248923:S428N;ENSP00000393537:S428N;ENSP00000383232:S428N;ENSP00000383233:S428N;ENSP00000383231:S428N;ENSP00000385975:S428N;ENSP00000384381:S84N;ENSP00000385445:S84N;ENSP00000384820:S84N;ENSP00000385016:S84N;ENSP00000385001:S84N	ENSP00000248923:S428N	S	+	2	0	GGT1	23353893	0.005000	0.15991	0.993000	0.49108	0.013000	0.08279	0.113000	0.15499	0.084000	0.17077	-0.708000	0.03648	AGC	GGT1	-	pfam_GGT_peptidase,tigrfam_GGT_peptidase	ENSG00000100031		0.617	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GGT1	HGNC	protein_coding	OTTHUMT00000250797.1	31	0.00	0	G	NM_013430		25023893	25023893	+1	no_errors	ENST00000248923	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	0.998	A
GRHL2	79977	genome.wustl.edu	37	8	102571041	102571041	+	Splice_Site	SNP	G	G	T			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr8:102571041G>T	ENST00000251808.3	+	4	1016		c.e4+1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)						brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGCCACAGAGGTGAGTCCCAG	0.532																																						dbGAP											1	Unknown(1)	breast(1)											20.0	18.0	19.0					8																	102571041		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.678+1G>T	8.37:g.102571041G>T			A1L303|Q6NT03|Q9H8B8	Splice_Site	SNP	-	e4+1	ENST00000251808.3	37	c.678+1	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434974	0.83885	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0278	0.92939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRHL2	102640217	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.005000	0.88553	2.489000	0.83994	0.643000	0.83706	.	GRHL2	-	-	ENSG00000083307		0.532	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	69	0.00	0	G	NM_024915	Intron	102571041	102571041	+1	no_errors	ENST00000251808	ensembl	human	known	69_37n	splice_site	61	34.41	32	SNP	1.000	T
HELZ	9931	genome.wustl.edu	37	17	65157188	65157188	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr17:65157188A>C	ENST00000358691.5	-	16	2066	c.1900T>G	c.(1900-1902)Tgg>Ggg	p.W634G	HELZ_ENST00000580168.1_Missense_Mutation_p.W634G	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	634						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.W634G(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTTCATCCCATTGTCTATGG	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											94.0	89.0	91.0					17																	65157188		1900	4131	6031	-	-	-	SO:0001583	missense	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1900T>G	17.37:g.65157188A>C	ENSP00000351524:p.Trp634Gly		I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.W634G	ENST00000358691.5	37	c.1900	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657453	0.29425	.	.	ENSG00000198265	ENST00000358691	D	0.81996	-1.56	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	L	0.36672	1.1	0.80722	D	1	P;B	0.36144	0.539;0.11	B;B	0.28709	0.093;0.064	T	0.77718	-0.2483	10	0.59425	D	0.04	-7.5067	16.0315	0.80582	1.0:0.0:0.0:0.0	.	634;634	B7ZLW2;P42694	.;HELZ_HUMAN	G	634	ENSP00000351524:W634G	ENSP00000351524:W634G	W	-	1	0	HELZ	62587650	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	8.733000	0.91539	2.247000	0.74100	0.482000	0.46254	TGG	HELZ	-	NULL	ENSG00000198265		0.388	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	166	0.00	0	A	NM_014877		65157188	65157188	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	missense	124	25.75	43	SNP	1.000	C
HIST1H1C	3006	genome.wustl.edu	37	6	26056062	26056062	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr6:26056062T>C	ENST00000343677.2	-	1	637	c.595A>G	c.(595-597)Aag>Gag	p.K199E		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	199					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.K199E(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						ACCTTGGGCTTAGCGGCCTTG	0.517																																						dbGAP											1	Substitution - Missense(1)	breast(1)											67.0	71.0	70.0					6																	26056062		2203	4300	6503	-	-	-	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.595A>G	6.37:g.26056062T>C	ENSP00000339566:p.Lys199Glu		A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K199E	ENST00000343677.2	37	c.595	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	T	19.13	3.766940	0.69878	.	.	ENSG00000187837	ENST00000343677	T	0.19394	2.15	5.31	5.31	0.75309	.	0.390014	0.25411	N	0.030879	T	0.17238	0.0414	N	0.08118	0	0.58432	D	0.999998	D	0.69078	0.997	D	0.75020	0.985	T	0.30446	-0.9978	10	0.62326	D	0.03	-4.631	14.7148	0.69259	0.0:0.0:0.0:1.0	.	199	P16403	H12_HUMAN	E	199	ENSP00000339566:K199E	ENSP00000339566:K199E	K	-	1	0	HIST1H1C	26164041	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.829000	0.86735	2.137000	0.66172	0.533000	0.62120	AAG	HIST1H1C	-	prints_Histone_H5	ENSG00000187837		0.517	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	80	0.00	0	T	NM_005319		26056062	26056062	-1	no_errors	ENST00000343677	ensembl	human	known	69_37n	missense	125	23.78	39	SNP	1.000	C
IGSF1	3547	genome.wustl.edu	37	X	130410201	130410201	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chrX:130410201A>T	ENST00000361420.3	-	15	2709	c.2630T>A	c.(2629-2631)cTc>cAc	p.L877H	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.L882H|IGSF1_ENST00000370910.1_Missense_Mutation_p.L868H|IGSF1_ENST00000370904.1_Missense_Mutation_p.L868H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	877	Ig-like C2-type 9.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.L877H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGTGCCAGGAGAGTGGGTTT	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)											47.0	48.0	47.0					X																	130410201		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2630T>A	X.37:g.130410201A>T	ENSP00000355010:p.Leu877His		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L882H	ENST00000361420.3	37	c.2645	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339907	0.60963	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01379	4.96;4.96;4.96;4.96	5.38	5.38	0.77491	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111363	0.38326	N	0.001740	T	0.12774	0.0310	H	0.95645	3.7	0.39277	D	0.964489	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.01090	-1.1455	10	0.87932	D	0	.	10.9297	0.47211	1.0:0.0:0.0:0.0	.	868;321;877	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	H	868;877;868;882	ENSP00000359947:L868H;ENSP00000355010:L877H;ENSP00000359941:L868H;ENSP00000359940:L882H	ENSP00000355010:L877H	L	-	2	0	IGSF1	130237882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.966000	0.49208	1.922000	0.55676	0.486000	0.48141	CTC	IGSF1	-	pfscan_Ig-like	ENSG00000147255		0.507	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	213	0.00	0	A			130410201	130410201	-1	no_errors	ENST00000370903	ensembl	human	known	69_37n	missense	226	28.44	91	SNP	1.000	T
CCDC183	84960	genome.wustl.edu	37	9	139701290	139701291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr9:139701290_139701291insC	ENST00000338005.6	+	12	1395_1396	c.1360_1361insC	c.(1360-1362)agafs	p.R454fs	RABL6_ENST00000371663.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000311502.7_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000357466.2_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		454								p.R454fs*35(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCTGGCTGACAGAGTGCAGATG	0.619																																						dbGAP											1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0																														Exception_encountered	9.37:g.139701290_139701291insC	ENSP00000338013:p.Arg454fs		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Frame_Shift_Ins	INS	NULL	p.R454fs	ENST00000338005.6	37	c.1360_1361	CCDS43906.1	9																																																																																			KIAA1984	-	NULL	ENSG00000213213		0.619	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	17	0.00	0	-			139701290	139701291	+1	no_errors	ENST00000338005	ensembl	human	known	69_37n	frame_shift_ins	8	46.67	7	INS	0.000:0.000	C
LRP2	4036	genome.wustl.edu	37	2	169997024	169997025	+	Frame_Shift_Ins	INS	-	-	G	rs80338754		TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr2:169997024_169997025insG	ENST00000263816.3	-	72	13424_13425	c.13139_13140insC	c.(13138-13140)ccafs	p.P4380fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4380	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGCACCTGCATGGGGGGGGCAG	0.535																																						dbGAP											0			GRCh37	CI073757	LRP2	I	rs80338754																																			-	-	-	SO:0001589	frameshift_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13140dupC	2.37:g.169997032_169997032dupG	ENSP00000263816:p.Pro4380fs		O00711|Q16215	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C4381fs	ENST00000263816.3	37	c.13140_13139	CCDS2232.1	2																																																																																			LRP2	-	superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom	ENSG00000081479		0.535	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	38	0.00	0	-	NM_004525		169997024	169997025	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	frame_shift_ins	72	12.20	10	INS	1.000:1.000	G
MALAT1	378938	genome.wustl.edu	37	11	65268696	65268696	+	lincRNA	DEL	T	T	-	rs557111576	byFrequency	TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr11:65268696delT	ENST00000534336.1	+	0	3464				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GTTTTCAGTATTTTTTTTTGT	0.398																																						dbGAP											0													37.0	44.0	42.0					11																	65268696		873	1988	2861	-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268696delT				RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.398	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	39	0.00	0	T	NR_002819		65268696	65268696	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	74	20.41	20	DEL	0.048	-
MYO5B	4645	genome.wustl.edu	37	18	47432808	47432808	+	Missense_Mutation	SNP	G	G	A	rs575729461		TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr18:47432808G>A	ENST00000285039.7	-	19	2694	c.2395C>T	c.(2395-2397)Cgg>Tgg	p.R799W		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	799	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.R799W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGTGTCCCCGGCAGTACCTC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19466	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											45.0	48.0	47.0					18																	47432808		1983	4167	6150	-	-	-	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2395C>T	18.37:g.47432808G>A	ENSP00000285039:p.Arg799Trp		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R799W	ENST00000285039.7	37	c.2395	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167010	0.38217	.	.	ENSG00000167306	ENST00000285039	T	0.77098	-1.07	5.42	3.58	0.41010	.	0.077128	0.52532	D	0.000063	D	0.91818	0.7411	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93772	0.7076	10	0.87932	D	0	.	13.9075	0.63845	0.0:0.0:0.6078:0.3922	.	799	Q9ULV0	MYO5B_HUMAN	W	799	ENSP00000285039:R799W	ENSP00000285039:R799W	R	-	1	2	MYO5B	45686806	0.997000	0.39634	1.000000	0.80357	0.029000	0.11900	1.705000	0.37867	0.792000	0.33850	0.655000	0.94253	CGG	MYO5B	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000167306		0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	19	0.00	0	G			47432808	47432808	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	29	36.96	17	SNP	1.000	A
OR10H2	26538	genome.wustl.edu	37	19	15839336	15839336	+	Silent	SNP	G	G	A			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr19:15839336G>A	ENST00000305899.3	+	1	503	c.483G>A	c.(481-483)tcG>tcA	p.S161S		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S161S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TGGTGACCTCGGCCATTTTCC	0.567																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											118.0	100.0	106.0					19																	15839336		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.483G>A	19.37:g.15839336G>A			Q6IFQ1|Q96R58	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S161	ENST00000305899.3	37	c.483	CCDS12333.1	19																																																																																			OR10H2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171942		0.567	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H2	HGNC	protein_coding	OTTHUMT00000460917.1	101	0.00	0	G			15839336	15839336	+1	no_errors	ENST00000305899	ensembl	human	known	69_37n	silent	190	31.29	87	SNP	0.000	A
OTUD6A	139562	genome.wustl.edu	37	X	69282426	69282426	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chrX:69282426G>A	ENST00000338352.2	+	1	86	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	18					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.E18K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CCACCAACGCGAGAGGCAGGA	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											19.0	19.0	19.0					X																	69282426		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.52G>A	X.37:g.69282426G>A	ENSP00000339389:p.Glu18Lys		B2RPB7	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E18K	ENST00000338352.2	37	c.52	CCDS14395.1	X	.	.	.	.	.	.	.	.	.	.	g	20.4	3.976566	0.74360	.	.	ENSG00000189401	ENST00000338352	T	0.66460	-0.21	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.81870	0.4914	M	0.86502	2.82	0.20873	N	0.999837	D	0.89917	1.0	D	0.81914	0.995	T	0.73572	-0.3940	10	0.62326	D	0.03	.	11.1093	0.48223	0.0:0.0:1.0:0.0	.	18	Q7L8S5	OTU6A_HUMAN	K	18	ENSP00000339389:E18K	ENSP00000339389:E18K	E	+	1	0	OTUD6A	69199151	0.996000	0.38824	0.036000	0.18154	0.003000	0.03518	3.974000	0.56852	2.389000	0.81357	0.597000	0.82753	GAG	OTUD6A	-	NULL	ENSG00000189401		0.547	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD6A	HGNC	protein_coding	OTTHUMT00000358763.1	9	0.00	0	G	NM_207320		69282426	69282426	+1	no_errors	ENST00000338352	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	0.034	A
OXCT2	64064	genome.wustl.edu	37	1	40235448	40235448	+	Missense_Mutation	SNP	C	C	T	rs150795467	byFrequency	TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr1:40235448C>T	ENST00000327582.5	-	1	1572	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	494					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TTTTTGATGTCGTCCACCGTC	0.632																																						dbGAP											0													41.0	40.0	40.0					1																	40235448		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1480G>A	1.37:g.40235448C>T	ENSP00000361914:p.Asp494Asn		B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.D494N	ENST00000327582.5	37	c.1480	CCDS445.1	1	.	.	.	.	.	.	.	.	.	.	c	14.42	2.530386	0.45073	.	.	ENSG00000198754	ENST00000327582	D	0.93247	-3.19	2.51	2.51	0.30379	3-oxoacid CoA-transferase, subunit B (1);	0.052044	0.64402	U	0.000001	D	0.94202	0.8139	.	.	.	0.37421	P	0.086372	D;D	0.60575	0.988;0.988	P;P	0.55785	0.784;0.71	D	0.95837	0.8863	8	0.62326	D	0.03	.	11.1506	0.48455	0.0:1.0:0.0:0.0	.	494;494	B3KS89;Q9BYC2	.;SCOT2_HUMAN	N	494	ENSP00000361914:D494N	ENSP00000361914:D494N	D	-	1	0	OXCT2	40008035	0.937000	0.31787	0.010000	0.14722	0.096000	0.18686	3.036000	0.49767	1.698000	0.51180	0.556000	0.70494	GAC	OXCT2	-	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B	ENSG00000198754		0.632	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT2	HGNC	protein_coding	OTTHUMT00000025656.1	16	0.00	0	C	NM_022120		40235448	40235448	-1	no_errors	ENST00000327582	ensembl	human	known	69_37n	missense	32	31.91	15	SNP	0.171	T
PDE11A	50940	genome.wustl.edu	37	2	178762823	178762823	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr2:178762823G>A	ENST00000286063.6	-	4	1581	c.1264C>T	c.(1264-1266)Cgc>Tgc	p.R422C	PDE11A_ENST00000358450.4_Missense_Mutation_p.R172C|PDE11A_ENST00000409504.1_Missense_Mutation_p.R64C|PDE11A_ENST00000449286.2_Missense_Mutation_p.R64C|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	422	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ACAGAACAGCGTTCACATTTC	0.373									Primary Pigmented Nodular Adrenocortical Disease, Familial																													dbGAP											0													143.0	134.0	137.0					2																	178762823		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1264C>T	2.37:g.178762823G>A	ENSP00000286063:p.Arg422Cys		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.R422C	ENST00000286063.6	37	c.1264	CCDS33334.1	2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929255	0.92389	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000431253;ENST00000449286	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.89	5.89	0.94794	GAF (2);	0.000000	0.85682	D	0.000000	D	0.89132	0.6628	M	0.91768	3.24	0.80722	D	1	D;P	0.89917	1.0;0.557	D;B	0.63597	0.916;0.175	D	0.90635	0.4570	10	0.87932	D	0	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	172;422	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	C	422;172;64;97;64	ENSP00000286063:R422C;ENSP00000351232:R172C;ENSP00000386539:R64C;ENSP00000390599:R64C	ENSP00000286063:R422C	R	-	1	0	PDE11A	178471069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.782000	0.75073	2.783000	0.95769	0.655000	0.94253	CGC	PDE11A	-	pfam_GAF,smart_GAF	ENSG00000128655		0.373	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	334	0.00	0	G			178762823	178762823	-1	no_errors	ENST00000286063	ensembl	human	known	69_37n	missense	337	26.42	121	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	231	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	200	24.81	66	SNP	1.000	G
PRPF4B	8899	genome.wustl.edu	37	6	4049302	4049302	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr6:4049302A>G	ENST00000337659.6	+	8	2088	c.1988A>G	c.(1987-1989)aAc>aGc	p.N663S	PRPF4B_ENST00000538861.1_Missense_Mutation_p.N649S	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	663					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N152S(1)|p.N663S(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAGAATCCCAACCTCAGAGAT	0.408																																						dbGAP											2	Substitution - Missense(2)	breast(2)											88.0	87.0	87.0					6																	4049302		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1988A>G	6.37:g.4049302A>G	ENSP00000337194:p.Asn663Ser		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	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.N663S	ENST00000337659.6	37	c.1988	CCDS4488.1	6	.	.	.	.	.	.	.	.	.	.	A	7.555	0.663425	0.14710	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.65364	-0.14;-0.15	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.17959	0.0431	N	0.02315	-0.6	0.54753	D	0.99998	B	0.29162	0.235	B	0.22386	0.039	T	0.27262	-1.0079	10	0.10111	T	0.7	.	16.0122	0.80411	1.0:0.0:0.0:0.0	.	663	Q13523	PRP4B_HUMAN	S	663;649	ENSP00000337194:N663S;ENSP00000439331:N649S	ENSP00000337194:N663S	N	+	2	0	PRPF4B	3994301	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.144000	0.77357	2.190000	0.69967	0.482000	0.46254	AAC	PRPF4B	-	NULL	ENSG00000112739		0.408	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	110	0.90	1	A			4049302	4049302	+1	no_errors	ENST00000337659	ensembl	human	known	69_37n	missense	137	23.33	42	SNP	1.000	G
PRRX1	5396	genome.wustl.edu	37	1	170695530	170695530	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr1:170695530C>T	ENST00000239461.6	+	3	900	c.587C>T	c.(586-588)gCg>gTg	p.A196V	PRRX1_ENST00000497230.2_Missense_Mutation_p.A196V|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_Missense_Mutation_p.A196V	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	196					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.A196V(2)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGGGACAGCGTCTCCGTAC	0.572																																						dbGAP											2	Substitution - Missense(2)	breast(2)											98.0	89.0	92.0					1																	170695530		2203	4300	6503	-	-	-	SO:0001583	missense	0			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.587C>T	1.37:g.170695530C>T	ENSP00000239461:p.Ala196Val		B5BUM7|O60807	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.A196V	ENST00000239461.6	37	c.587	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423433	0.83559	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230;ENST00000476867;ENST00000495280	D;D;D;T	0.91843	-2.85;-2.92;-2.87;-1.24	5.39	5.39	0.77823	.	0.055492	0.64402	D	0.000001	D	0.87696	0.6242	L	0.51422	1.61	0.80722	D	1	P;D	0.54047	0.825;0.964	B;B	0.41510	0.142;0.359	D	0.89561	0.3806	10	0.62326	D	0.03	.	17.7361	0.88394	0.0:1.0:0.0:0.0	.	196;196	P54821;P54821-2	PRRX1_HUMAN;.	V	196;196;196;41;41	ENSP00000356734:A196V;ENSP00000239461:A196V;ENSP00000450762:A196V;ENSP00000451225:A41V	ENSP00000239461:A196V	A	+	2	0	PRRX1	168962154	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.164000	0.77533	2.533000	0.85409	0.650000	0.86243	GCG	PRRX1	-	NULL	ENSG00000116132		0.572	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	138	0.00	0	C	NM_006902		170695530	170695530	+1	no_errors	ENST00000239461	ensembl	human	known	69_37n	missense	210	25.27	71	SNP	1.000	T
RAPGEF4	11069	genome.wustl.edu	37	2	173891808	173891808	+	Splice_Site	SNP	G	G	C			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr2:173891808G>C	ENST00000397081.3	+	25	2522		c.e25-1		RAPGEF4_ENST00000540783.1_Splice_Site|RAPGEF4_ENST00000264111.6_Splice_Site|RAPGEF4_ENST00000409036.1_Splice_Site|RAPGEF4_ENST00000539331.1_Splice_Site|RAPGEF4_ENST00000535187.1_Splice_Site|RAPGEF4_ENST00000538974.1_Splice_Site|RAPGEF4_ENST00000397087.3_Splice_Site	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4						blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTATTTTCTAGCTGGAGCTAA	0.328																																						dbGAP											1	Unknown(1)	breast(1)											64.0	62.0	62.0					2																	173891808		1802	4063	5865	-	-	-	SO:0001630	splice_region_variant	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2380-1G>C	2.37:g.173891808G>C			B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Splice_Site	SNP	-	e25-1	ENST00000397081.3	37	c.2380-1	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051329	0.75960	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7321	0.96186	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAPGEF4	173600054	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.668000	0.90789	0.655000	0.94253	.	RAPGEF4	-	-	ENSG00000091428		0.328	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	124	0.00	0	G	NM_007023	Intron	173891808	173891808	+1	no_errors	ENST00000397081	ensembl	human	known	69_37n	splice_site	153	31.08	69	SNP	1.000	C
SACS	26278	genome.wustl.edu	37	13	23912580	23912580	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr13:23912580G>C	ENST00000382292.3	-	9	5708	c.5435C>G	c.(5434-5436)aCa>aGa	p.T1812R	SACS_ENST00000382298.3_Missense_Mutation_p.T1812R|SACS_ENST00000402364.1_Missense_Mutation_p.T1062R			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1812					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.T1812R(1)|p.T1665R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACACTCTACTGTTTTCTGTGA	0.473																																						dbGAP											2	Substitution - Missense(2)	breast(2)											130.0	127.0	128.0					13																	23912580		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5435C>G	13.37:g.23912580G>C	ENSP00000371729:p.Thr1812Arg		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.T1812R	ENST00000382292.3	37	c.5435	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478174	0.63849	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87650	-2.17;-2.28;-2.17	5.75	5.75	0.90469	.	0.053567	0.85682	D	0.000000	D	0.82825	0.5121	L	0.54323	1.7	0.39620	D	0.970016	P	0.38335	0.627	B	0.25614	0.062	T	0.82084	-0.0632	10	0.25106	T	0.35	.	19.9478	0.97189	0.0:0.0:1.0:0.0	.	1812	Q9NZJ4	SACS_HUMAN	R	1812;1062;1812	ENSP00000371729:T1812R;ENSP00000385844:T1062R;ENSP00000371735:T1812R	ENSP00000371729:T1812R	T	-	2	0	SACS	22810580	1.000000	0.71417	0.509000	0.27700	0.766000	0.43426	7.310000	0.78947	2.712000	0.92718	0.591000	0.81541	ACA	SACS	-	NULL	ENSG00000151835		0.473	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	249	0.00	0	G	NM_014363		23912580	23912580	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	176	29.88	75	SNP	1.000	C
SIPA1L2	57568	genome.wustl.edu	37	1	232651059	232651059	+	Missense_Mutation	SNP	T	T	G	rs371465485		TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr1:232651059T>G	ENST00000366630.1	-	2	385	c.27A>C	c.(25-27)gaA>gaC	p.E9D	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E9D			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	9					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.E9D(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGTGCTTCTCTTCTTGTGACT	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											50.0	50.0	50.0					1																	232651059		1888	4126	6014	-	-	-	SO:0001583	missense	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.27A>C	1.37:g.232651059T>G	ENSP00000355589:p.Glu9Asp		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E9D	ENST00000366630.1	37	c.27	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	T	9.492	1.100847	0.20552	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.79033	-1.23;-1.23	5.4	4.28	0.50868	.	0.488680	0.23263	N	0.050102	T	0.63640	0.2528	N	0.22421	0.69	0.24839	N	0.992475	B	0.02656	0.0	B	0.06405	0.002	T	0.51356	-0.8716	10	0.30078	T	0.28	-21.9117	11.1219	0.48296	0.0:0.0716:0.0:0.9284	.	9	Q9P2F8	SI1L2_HUMAN	D	9	ENSP00000355589:E9D;ENSP00000262861:E9D	ENSP00000262861:E9D	E	-	3	2	SIPA1L2	230717682	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.443000	0.21644	1.080000	0.41073	0.454000	0.30748	GAA	SIPA1L2	-	NULL	ENSG00000116991		0.453	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	181	0.00	0	T	XM_045839		232651059	232651059	-1	no_errors	ENST00000262861	ensembl	human	known	69_37n	missense	247	21.77	69	SNP	1.000	G
SLC17A7	57030	genome.wustl.edu	37	19	49938068	49938069	+	Frame_Shift_Ins	INS	-	-	A	rs200975299		TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr19:49938068_49938069insA	ENST00000221485.3	-	4	676_677	c.505_506insT	c.(505-507)tatfs	p.Y169fs	SLC17A7_ENST00000600601.1_Frame_Shift_Ins_p.Y102fs|SLC17A7_ENST00000543531.1_Frame_Shift_Ins_p.Y157fs	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	169					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.Y169fs*124(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GACACAGCCATAGTGGACGCGG	0.54																																						dbGAP											1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.506dupT	19.37:g.49938069_49938069dupA	ENSP00000221485:p.Tyr169fs		B4DFR9|B4DG46|Q6PCD0	Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Y169fs	ENST00000221485.3	37	c.506_505	CCDS12764.1	19																																																																																			SLC17A7	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000104888		0.540	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A7	HGNC	protein_coding	OTTHUMT00000465367.2	60	0.00	0	-			49938068	49938069	-1	no_errors	ENST00000221485	ensembl	human	known	69_37n	frame_shift_ins	38	35.59	21	INS	1.000:1.000	A
SPDYE2B	100310812	genome.wustl.edu	37	7	102294074	102294074	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr7:102294074T>C	ENST00000507450.1	+	3	811	c.337T>C	c.(337-339)Tcc>Ccc	p.S113P	SPDYE2B_ENST00000436228.2_Missense_Mutation_p.S113P|SPDYE2B_ENST00000455020.2_5'Flank|POLR2J2_ENST00000591000.1_Intron|POLR2J2_ENST00000476151.1_Intron|POLR2J2_ENST00000333432.6_Intron	NM_001166339.1	NP_001159811.1	A6NHP3	SPE2B_HUMAN	speedy/RINGO cell cycle regulator family member E2B	113																	GCGAGTGTCATCCATCCTCCC	0.542																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS59507.1	7q22.1	2013-05-08			ENSG00000173678	ENSG00000173678		"""Speedy homologs"""	48334	protein-coding gene	gene with protein product							Standard	NM_001166339		Approved			A6NHP3	OTTHUMG00000158393	ENST00000507450.1:c.337T>C	7.37:g.102294074T>C	ENSP00000424058:p.Ser113Pro		D6RBN0	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.S113P	ENST00000507450.1	37	c.337	CCDS59507.1	7	.	.	.	.	.	.	.	.	.	.	c	0	-2.811089	0.00074	.	.	ENSG00000173678	ENST00000540965;ENST00000507450;ENST00000436228	.	.	.	.	.	.	.	.	.	.	.	T	0.12732	0.0309	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	6	0.27082	T	0.32	.	.	.	.	.	113	A6NHP3	SPE2L_HUMAN	P	113	.	ENSP00000440393:S113P	S	+	1	0	RP11-577H5.4	102081310	0.724000	0.28038	0.002000	0.10522	0.002000	0.02628	-0.913000	0.04042	-1.655000	0.01497	-1.635000	0.00777	TCC	SPDYE6	-	NULL	ENSG00000173678		0.542	SPDYE2B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE6	HGNC	protein_coding	OTTHUMT00000350899.3	27	0.00	0	T			102294074	102294074	+1	no_errors	ENST00000436228	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	0.002	C
SYNE2	23224	genome.wustl.edu	37	14	64625506	64625506	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr14:64625506A>G	ENST00000344113.4	+	86	16168	c.15956A>G	c.(15955-15957)aAc>aGc	p.N5319S	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.N5236S|SYNE2_ENST00000357395.3_Missense_Mutation_p.N1704S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N1953S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N1704S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N5319S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5319					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.N5319S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGTGGAGAACCTTCAGGTA	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											95.0	88.0	90.0					14																	64625506		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15956A>G	14.37:g.64625506A>G	ENSP00000341781:p.Asn5319Ser		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.N5319S	ENST00000344113.4	37	c.15956	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	A	12.18	1.860840	0.32884	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.78	0.596	0.17496	.	0.846760	0.10421	N	0.676685	T	0.29061	0.0722	L	0.47716	1.5	0.53688	D	0.999978	B;B;B;B;B	0.20671	0.004;0.047;0.013;0.003;0.018	B;B;B;B;B	0.19391	0.008;0.025;0.004;0.002;0.011	T	0.06899	-1.0801	10	0.41790	T	0.15	.	6.4837	0.22077	0.4814:0.38:0.1386:0.0	.	1704;5242;5236;5319;5319	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	S	5319;1704;5319;5236;5242;1953;1704	ENSP00000350719:N5319S;ENSP00000349969:N1704S;ENSP00000341781:N5319S;ENSP00000452570:N5236S;ENSP00000450831:N1953S;ENSP00000378249:N1704S	ENSP00000261678:N5242S	N	+	2	0	SYNE2	63695259	0.457000	0.25752	0.631000	0.29282	0.966000	0.64601	-0.165000	0.09968	-0.060000	0.13132	-0.256000	0.11100	AAC	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.453	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	105	0.00	0	A	NM_182914		64625506	64625506	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	46	31.34	21	SNP	0.676	G
TBL1XR1	79718	genome.wustl.edu	37	3	176769296	176769297	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr3:176769296_176769297delTA	ENST00000430069.1	-	5	681_682	c.422_423delTA	c.(421-423)atafs	p.I141fs	TBL1XR1_ENST00000457928.2_Frame_Shift_Del_p.I141fs			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	141					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.I141fs*3(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GCTCACTTGCTATAGTATGTGC	0.396																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.422_423delTA	3.37:g.176769298_176769299delTA	ENSP00000405574:p.Ile141fs		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I141fs	ENST00000430069.1	37	c.423_422	CCDS46961.1	3																																																																																			TBL1XR1	-	NULL	ENSG00000177565		0.396	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	177	0.00	0	TA	NM_024665		176769296	176769297	-1	no_errors	ENST00000430069	ensembl	human	known	69_37n	frame_shift_del	171	23.68	54	DEL	1.000:1.000	-
TBL1XR1	79718	genome.wustl.edu	37	3	176769299	176769300	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr3:176769299_176769300insTG	ENST00000430069.1	-	5	678_679	c.419_420insCA	c.(418-420)actfs	p.T140fs	TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.T140fs			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	140					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A142fs*1(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CACTTGCTATAGTATGTGCTCC	0.401																																						dbGAP											1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.419_420insCA	3.37:g.176769299_176769300insTG	ENSP00000405574:p.Thr140fs		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A142fs	ENST00000430069.1	37	c.420_419	CCDS46961.1	3																																																																																			TBL1XR1	-	NULL	ENSG00000177565		0.401	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	176	0.00	0	-	NM_024665		176769299	176769300	-1	no_errors	ENST00000430069	ensembl	human	known	69_37n	frame_shift_ins	143	35.87	80	INS	0.264:0.288	TG
UBE4B	10277	genome.wustl.edu	37	1	10231364	10231364	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr1:10231364G>A	ENST00000253251.8	+	24	3954	c.3115G>A	c.(3115-3117)Gcg>Acg	p.A1039T	UBE4B_ENST00000343090.6_Missense_Mutation_p.A1168T|UBE4B_ENST00000377157.3_Missense_Mutation_p.A923T					ubiquitination factor E4B									p.A1168T(1)|p.A1039T(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCTCGGTTCGCGAAAGCCAT	0.478																																						dbGAP											2	Substitution - Missense(2)	breast(2)											102.0	99.0	100.0					1																	10231364		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3115G>A	1.37:g.10231364G>A	ENSP00000253251:p.Ala1039Thr			Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.A1168T	ENST00000253251.8	37	c.3502	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838031	0.91117	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.41065	1.01;1.01;1.01	5.91	5.91	0.95273	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.83275	0.996;0.879	T	0.64664	-0.6354	10	0.34782	T	0.22	-17.7665	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1168;1039	O95155;O95155-2	UBE4B_HUMAN;.	T	1039;923;1168	ENSP00000253251:A1039T;ENSP00000366362:A923T;ENSP00000343001:A1168T	ENSP00000253251:A1039T	A	+	1	0	UBE4B	10153951	1.000000	0.71417	0.693000	0.30195	0.238000	0.25445	7.993000	0.88291	2.793000	0.96121	0.655000	0.94253	GCG	UBE4B	-	pfam_Ub_conjug_fac_E4_core	ENSG00000130939		0.478	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	219	0.00	0	G	NM_006048		10231364	10231364	+1	no_errors	ENST00000343090	ensembl	human	known	69_37n	missense	188	28.52	75	SNP	1.000	A
UNC79	57578	genome.wustl.edu	37	14	94088964	94088964	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chr14:94088964G>T	ENST00000393151.2	+	30	5385	c.5385G>T	c.(5383-5385)gaG>gaT	p.E1795D	UNC79_ENST00000256339.4_Missense_Mutation_p.E1618D|UNC79_ENST00000555664.1_Missense_Mutation_p.E1795D|UNC79_ENST00000553484.1_Missense_Mutation_p.E1817D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1795					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1618D(1)|p.E1817D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGATGCAGAGAACCCCACAG	0.527																																						dbGAP											2	Substitution - Missense(2)	breast(2)											67.0	60.0	63.0					14																	94088964		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5385G>T	14.37:g.94088964G>T	ENSP00000376858:p.Glu1795Asp		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1817D	ENST00000393151.2	37	c.5451		14	.	.	.	.	.	.	.	.	.	.	G	7.322	0.617198	0.14129	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19669	2.15;2.13;2.15;2.15	5.57	4.68	0.58851	.	0.052258	0.85682	D	0.000000	T	0.12902	0.0313	L	0.27053	0.805	0.30104	N	0.807171	P	0.40794	0.729	B	0.38264	0.269	T	0.07731	-1.0757	10	0.27785	T	0.31	-22.941	6.7613	0.23542	0.2995:0.0:0.7005:0.0	.	1817	C9JQL1	.	D	1618;1795;1817;1795;1817	ENSP00000256339:E1618D;ENSP00000450868:E1795D;ENSP00000451360:E1817D;ENSP00000376858:E1795D	ENSP00000256339:E1618D	E	+	3	2	KIAA1409	93158717	1.000000	0.71417	0.856000	0.33681	0.198000	0.23893	2.180000	0.42537	1.367000	0.46095	0.484000	0.47621	GAG	UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.527	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	317	0.00	0	G	XM_028395		94088964	94088964	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	missense	286	32.39	137	SNP	1.000	T
WNK3	65267	genome.wustl.edu	37	X	54275401	54275401	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A096-01A-11W-A019-09	TCGA-A8-A096-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8a411a0a-ec66-4d9f-b0e4-f1c1f969d605	6fc71cee-3a74-4d03-ac3c-da56af94dab7	g.chrX:54275401A>G	ENST00000375159.2	-	16	3379	c.3380T>C	c.(3379-3381)aTc>aCc	p.I1127T	WNK3_ENST00000375169.3_Missense_Mutation_p.I1127T|WNK3_ENST00000354646.2_Missense_Mutation_p.I1127T			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1127					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I1127T(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GATGCTAGAGATGCTGTGCTC	0.438																																						dbGAP											1	Substitution - Missense(1)	breast(1)											130.0	125.0	126.0					X																	54275401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3380T>C	X.37:g.54275401A>G	ENSP00000364301:p.Ile1127Thr		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I1127T	ENST00000375159.2	37	c.3380	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	A	1.994	-0.431184	0.04669	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.69040	-0.35;-0.37;-0.37	5.19	1.45	0.22620	.	0.638499	0.15206	N	0.274705	T	0.39937	0.1097	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27088	-1.0084	10	0.02654	T	1	-0.0021	7.5169	0.27606	0.5243:0.0:0.4757:0.0	.	1127;1127	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	T	1127	ENSP00000364312:I1127T;ENSP00000346667:I1127T;ENSP00000364301:I1127T	ENSP00000346667:I1127T	I	-	2	0	WNK3	54292126	0.994000	0.37717	0.192000	0.23308	0.974000	0.67602	2.132000	0.42083	0.169000	0.19679	0.441000	0.28932	ATC	WNK3	-	NULL	ENSG00000196632		0.438	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	340	0.00	0	A	NM_020922		54275401	54275401	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	missense	301	27.64	115	SNP	0.260	G
