#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTR3B	57180	genome.wustl.edu	37	7	152550654	152550654	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr7:152550654G>A	ENST00000256001.8	+	11	1287	c.1153G>A	c.(1153-1155)Gcc>Acc	p.A385T	ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000397282.2_Missense_Mutation_p.A297T|ACTR3B_ENST00000537264.1_Missense_Mutation_p.A297T	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	385						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CTCCATGCTGGCCTCGACTGT	0.552																																						dbGAP											0													141.0	87.0	105.0					7																	152550654		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.1153G>A	7.37:g.152550654G>A	ENSP00000256001:p.Ala385Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.A385T	ENST00000256001.8	37	c.1153	CCDS5934.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.178873	0.94846	.	.	ENSG00000133627	ENST00000256001;ENST00000397282;ENST00000537264	D;D;D	0.97791	-4.54;-4.54;-4.54	4.76	4.76	0.60689	.	0.000000	0.56097	U	0.000026	D	0.97798	0.9277	M	0.88704	2.975	0.54753	D	0.999984	P	0.45011	0.848	P	0.44673	0.457	D	0.99007	1.0813	10	0.87932	D	0	-7.2881	15.3139	0.74059	0.0:0.0:1.0:0.0	.	385	Q9P1U1	ARP3B_HUMAN	T	385;297;297	ENSP00000256001:A385T;ENSP00000380452:A297T;ENSP00000446157:A297T	ENSP00000256001:A385T	A	+	1	0	ACTR3B	152181587	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	8.889000	0.92470	2.313000	0.78055	0.655000	0.94253	GCC	ACTR3B	-	pfam_Actin-like,smart_Actin-like	ENSG00000133627		0.552	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	21	0.00	0	G	NM_020445		152550654	152550654	+1	no_errors	ENST00000256001	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	A
ACTR3B	57180	genome.wustl.edu	37	7	152550654	152550654	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr7:152550654G>A	ENST00000256001.8	+	11	1287	c.1153G>A	c.(1153-1155)Gcc>Acc	p.A385T	ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000397282.2_Missense_Mutation_p.A297T|ACTR3B_ENST00000537264.1_Missense_Mutation_p.A297T	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	385						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CTCCATGCTGGCCTCGACTGT	0.552																																						dbGAP											0													141.0	87.0	105.0					7																	152550654		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.1153G>A	7.37:g.152550654G>A	ENSP00000256001:p.Ala385Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.A385T	ENST00000256001.8	37	c.1153	CCDS5934.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.178873	0.94846	.	.	ENSG00000133627	ENST00000256001;ENST00000397282;ENST00000537264	D;D;D	0.97791	-4.54;-4.54;-4.54	4.76	4.76	0.60689	.	0.000000	0.56097	U	0.000026	D	0.97798	0.9277	M	0.88704	2.975	0.54753	D	0.999984	P	0.45011	0.848	P	0.44673	0.457	D	0.99007	1.0813	10	0.87932	D	0	-7.2881	15.3139	0.74059	0.0:0.0:1.0:0.0	.	385	Q9P1U1	ARP3B_HUMAN	T	385;297;297	ENSP00000256001:A385T;ENSP00000380452:A297T;ENSP00000446157:A297T	ENSP00000256001:A385T	A	+	1	0	ACTR3B	152181587	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	8.889000	0.92470	2.313000	0.78055	0.655000	0.94253	GCC	ACTR3B	-	pfam_Actin-like,smart_Actin-like	ENSG00000133627		0.552	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	24	0.00	0	G	NM_020445		152550654	152550654	+1	no_errors	ENST00000256001	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	A
ANKRD20A4	728747	genome.wustl.edu	37	9	69421946	69421946	+	Silent	SNP	T	T	C	rs201965999	byFrequency	TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr9:69421946T>C	ENST00000357336.3	+	14	1691	c.1410T>C	c.(1408-1410)taT>taC	p.Y470Y		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	470										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGAAACAATATAAGAAAGAAG	0.303																																						dbGAP											0													1.0	2.0	1.0					9																	69421946		286	893	1179	-	-	-	SO:0001819	synonymous_variant	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1410T>C	9.37:g.69421946T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Y470	ENST00000357336.3	37	c.1410	CCDS43828.1	9																																																																																			ANKRD20A4	-	NULL	ENSG00000172014		0.303	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	8	0.00	0	T	NM_001098805		69421946	69421946	+1	no_errors	ENST00000357336	ensembl	human	known	69_37n	silent	11	38.89	7	SNP	0.129	C
APOA5	116519	genome.wustl.edu	37	11	116660880	116660881	+	In_Frame_Ins	INS	-	-	AGG			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr11:116660880_116660881insAGG	ENST00000227665.4	-	3	1098_1099	c.1064_1065insCCT	c.(1063-1065)ctt>ctCCTt	p.355_355L>LL	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_In_Frame_Ins_p.355_355L>LL			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	355					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCTGGTCATGAAGGCTGTGAGT	0.594																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.1062_1064dupCCT	11.37:g.116660881_116660883dupAGG	ENSP00000227665:p.Leu355dup	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	In_Frame_Ins	INS	pfam_ApoA1_A4_E	p.356in_frame_insL	ENST00000227665.4	37	c.1065_1064	CCDS8376.2	11																																																																																			APOA5	-	NULL	ENSG00000110243		0.594	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA5	HGNC	protein_coding	OTTHUMT00000106285.2	17	0.00	0	-			116660880	116660881	-1	no_errors	ENST00000227665	ensembl	human	known	69_37n	in_frame_ins	22	21.43	6	INS	0.726:0.838	AGG
APOA5	116519	genome.wustl.edu	37	11	116660880	116660881	+	In_Frame_Ins	INS	-	-	AGG			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr11:116660880_116660881insAGG	ENST00000227665.4	-	3	1098_1099	c.1064_1065insCCT	c.(1063-1065)ctt>ctCCTt	p.355_355L>LL	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_In_Frame_Ins_p.355_355L>LL			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	355					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCTGGTCATGAAGGCTGTGAGT	0.594																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.1062_1064dupCCT	11.37:g.116660881_116660883dupAGG	ENSP00000227665:p.Leu355dup	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	In_Frame_Ins	INS	pfam_ApoA1_A4_E	p.356in_frame_insL	ENST00000227665.4	37	c.1065_1064	CCDS8376.2	11																																																																																			APOA5	-	NULL	ENSG00000110243		0.594	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA5	HGNC	protein_coding	OTTHUMT00000106285.2	23	0.00	0	-			116660880	116660881	-1	no_errors	ENST00000227665	ensembl	human	known	69_37n	in_frame_ins	22	21.43	6	INS	0.726:0.838	AGG
BHLHE40	8553	genome.wustl.edu	37	3	5022090	5022091	+	Frame_Shift_Ins	INS	-	-	A	rs115823750	byFrequency	TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr3:5022090_5022091insA	ENST00000256495.3	+	3	858_859	c.255_256insA	c.(256-258)acafs	p.T86fs	BHLHE40-AS1_ENST00000434530.1_RNA|BHLHE40-AS1_ENST00000420832.1_RNA|BHLHE40-AS1_ENST00000441386.2_RNA	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	86	Essential for its interaction with ARNTL/BMAL1, E-box binding and repressor activity against the CLOCK-ARNTL/BMAL1 heterodimer.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L85L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						ATCTCAAACTTACAGTAAGTGA	0.579											OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.256dupA	3.37:g.5022091_5022091dupA	ENSP00000256495:p.Thr86fs	Somatic	623	WXS	Illumina GAIIx	Phase_IV	Q96TD3	Frame_Shift_Ins	INS	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd	p.T85fs	ENST00000256495.3	37	c.255_256	CCDS2565.1	3																																																																																			BHLHE40	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000134107		0.579	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE40	HGNC	protein_coding	OTTHUMT00000239244.2	47	0.00	0	-	NM_003670		5022090	5022091	+1	no_errors	ENST00000256495	ensembl	human	known	69_37n	frame_shift_ins	12	20.00	3	INS	1.000:1.000	A
BHLHE40	8553	genome.wustl.edu	37	3	5022090	5022091	+	Frame_Shift_Ins	INS	-	-	A	rs115823750	byFrequency	TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr3:5022090_5022091insA	ENST00000256495.3	+	3	858_859	c.255_256insA	c.(256-258)acafs	p.T86fs	BHLHE40-AS1_ENST00000434530.1_RNA|BHLHE40-AS1_ENST00000420832.1_RNA|BHLHE40-AS1_ENST00000441386.2_RNA	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	86	Essential for its interaction with ARNTL/BMAL1, E-box binding and repressor activity against the CLOCK-ARNTL/BMAL1 heterodimer.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L85L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						ATCTCAAACTTACAGTAAGTGA	0.579											OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.256dupA	3.37:g.5022091_5022091dupA	ENSP00000256495:p.Thr86fs	Somatic	623	WXS	Illumina GAIIx	Phase_IV	Q96TD3	Frame_Shift_Ins	INS	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd	p.T85fs	ENST00000256495.3	37	c.255_256	CCDS2565.1	3																																																																																			BHLHE40	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000134107		0.579	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE40	HGNC	protein_coding	OTTHUMT00000239244.2	16	0.00	0	-	NM_003670		5022090	5022091	+1	no_errors	ENST00000256495	ensembl	human	known	69_37n	frame_shift_ins	12	20.00	3	INS	1.000:1.000	A
C19orf57	79173	genome.wustl.edu	37	19	14000926	14000926	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr19:14000926delT	ENST00000586783.1	-	5	742	c.743delA	c.(742-744)gacfs	p.D248fs	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Frame_Shift_Del_p.D248fs|C19orf57_ENST00000454313.1_Frame_Shift_Del_p.D248fs			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	248					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCTCCTCTGTCTGGCTTCTC	0.637																																						dbGAP											0													80.0	75.0	77.0					19																	14000926		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.743delA	19.37:g.14000926delT	ENSP00000465822:p.Asp248fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13411|Q8N825|Q96D63|Q9BU49	Frame_Shift_Del	DEL	NULL	p.D248fs	ENST00000586783.1	37	c.743		19																																																																																			C19orf57	-	NULL	ENSG00000132016		0.637	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	41	0.00	0	T	NM_024323		14000926	14000926	-1	no_errors	ENST00000454313	ensembl	human	known	69_37n	frame_shift_del	35	82.45	202	DEL	0.022	-
C19orf57	79173	genome.wustl.edu	37	19	14000926	14000926	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr19:14000926delT	ENST00000586783.1	-	5	742	c.743delA	c.(742-744)gacfs	p.D248fs	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Frame_Shift_Del_p.D248fs|C19orf57_ENST00000454313.1_Frame_Shift_Del_p.D248fs			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	248					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCTCCTCTGTCTGGCTTCTC	0.637																																						dbGAP											0													80.0	75.0	77.0					19																	14000926		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.743delA	19.37:g.14000926delT	ENSP00000465822:p.Asp248fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13411|Q8N825|Q96D63|Q9BU49	Frame_Shift_Del	DEL	NULL	p.D248fs	ENST00000586783.1	37	c.743		19																																																																																			C19orf57	-	NULL	ENSG00000132016		0.637	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	8	0.00	0	T	NM_024323		14000926	14000926	-1	no_errors	ENST00000454313	ensembl	human	known	69_37n	frame_shift_del	35	82.45	202	DEL	0.022	-
CBX1	10951	genome.wustl.edu	37	17	46152423	46152423	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr17:46152423C>T	ENST00000393408.3	-	4	838	c.358G>A	c.(358-360)Gag>Aag	p.E120K	CBX1_ENST00000225603.4_Missense_Mutation_p.E120K|CBX1_ENST00000495350.1_Missense_Mutation_p.E120K	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	120	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						ATAATCCGCTCCGGCTCCAAA	0.463																																					NSCLC(136;694 2497 38792 39034)	dbGAP											0													109.0	112.0	111.0					17																	46152423		2203	4300	6503	-	-	-	SO:0001583	missense	0			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.358G>A	17.37:g.46152423C>T	ENSP00000377060:p.Glu120Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	P23197	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.E120K	ENST00000393408.3	37	c.358	CCDS11525.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.957008	0.97145	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583	.	.	.	5.66	5.66	0.87406	Chromo shadow (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo shadow, subgroup (1);	0.000000	0.64402	U	0.000001	T	0.73721	0.3623	M	0.78801	2.425	0.80722	D	1	D	0.58620	0.983	P	0.51385	0.668	T	0.74822	-0.3534	9	0.46703	T	0.11	-13.1855	18.9296	0.92560	0.0:1.0:0.0:0.0	.	120	P83916	CBX1_HUMAN	K	120;120;124	.	ENSP00000225603:E120K	E	-	1	0	CBX1	43507422	1.000000	0.71417	0.972000	0.41901	0.976000	0.68499	7.663000	0.83820	2.843000	0.97960	0.650000	0.86243	GAG	CBX1	-	pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000108468		0.463	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBX1	HGNC	protein_coding	OTTHUMT00000318016.1	188	0.00	0	C	NM_006807		46152423	46152423	-1	no_errors	ENST00000225603	ensembl	human	known	69_37n	missense	348	11.20	44	SNP	1.000	T
CBX1	10951	genome.wustl.edu	37	17	46152423	46152423	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr17:46152423C>T	ENST00000393408.3	-	4	838	c.358G>A	c.(358-360)Gag>Aag	p.E120K	CBX1_ENST00000225603.4_Missense_Mutation_p.E120K|CBX1_ENST00000495350.1_Missense_Mutation_p.E120K	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	120	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						ATAATCCGCTCCGGCTCCAAA	0.463																																					NSCLC(136;694 2497 38792 39034)	dbGAP											0													109.0	112.0	111.0					17																	46152423		2203	4300	6503	-	-	-	SO:0001583	missense	0			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.358G>A	17.37:g.46152423C>T	ENSP00000377060:p.Glu120Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	P23197	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.E120K	ENST00000393408.3	37	c.358	CCDS11525.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.957008	0.97145	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583	.	.	.	5.66	5.66	0.87406	Chromo shadow (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo shadow, subgroup (1);	0.000000	0.64402	U	0.000001	T	0.73721	0.3623	M	0.78801	2.425	0.80722	D	1	D	0.58620	0.983	P	0.51385	0.668	T	0.74822	-0.3534	9	0.46703	T	0.11	-13.1855	18.9296	0.92560	0.0:1.0:0.0:0.0	.	120	P83916	CBX1_HUMAN	K	120;120;124	.	ENSP00000225603:E120K	E	-	1	0	CBX1	43507422	1.000000	0.71417	0.972000	0.41901	0.976000	0.68499	7.663000	0.83820	2.843000	0.97960	0.650000	0.86243	GAG	CBX1	-	pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000108468		0.463	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBX1	HGNC	protein_coding	OTTHUMT00000318016.1	320	0.00	0	C	NM_006807		46152423	46152423	-1	no_errors	ENST00000225603	ensembl	human	known	69_37n	missense	348	11.20	44	SNP	1.000	T
CEP250	11190	genome.wustl.edu	37	20	34078523	34078524	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr20:34078523_34078524insA	ENST00000397527.1	+	21	3367_3368	c.2647_2648insA	c.(2647-2649)gaafs	p.E883fs	CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	883	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTAGAAAGGGAAAAAATGGAG	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2653dupA	20.37:g.34078529_34078529dupA	ENSP00000380661:p.Glu883fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Frame_Shift_Ins	INS	superfamily_Prefoldin	p.M885fs	ENST00000397527.1	37	c.2647_2648	CCDS13255.1	20																																																																																			CEP250	-	NULL	ENSG00000126001		0.545	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	41	0.00	0	-	NM_007186		34078523	34078524	+1	no_errors	ENST00000397527	ensembl	human	known	69_37n	frame_shift_ins	54	11.48	7	INS	0.960:0.967	A
CLCA2	9635	genome.wustl.edu	37	1	86904570	86904570	+	Silent	SNP	C	C	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr1:86904570C>A	ENST00000370565.4	+	7	1146	c.984C>A	c.(982-984)ctC>ctA	p.L328L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	328	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTGACAGACTCCTTCAACTAC	0.393																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	dbGAP											0													72.0	74.0	74.0					1																	86904570		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.984C>A	1.37:g.86904570C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2T3|Q9Y6N2	Silent	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.L328	ENST00000370565.4	37	c.984	CCDS708.1	1																																																																																			CLCA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	ENSG00000137975		0.393	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	158	0.00	0	C	NM_006536		86904570	86904570	+1	no_errors	ENST00000370565	ensembl	human	known	69_37n	silent	199	14.22	33	SNP	0.788	A
CLCA2	9635	genome.wustl.edu	37	1	86904570	86904570	+	Silent	SNP	C	C	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr1:86904570C>A	ENST00000370565.4	+	7	1146	c.984C>A	c.(982-984)ctC>ctA	p.L328L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	328	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTGACAGACTCCTTCAACTAC	0.393																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	dbGAP											0													72.0	74.0	74.0					1																	86904570		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.984C>A	1.37:g.86904570C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2T3|Q9Y6N2	Silent	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.L328	ENST00000370565.4	37	c.984	CCDS708.1	1																																																																																			CLCA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	ENSG00000137975		0.393	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	254	0.00	0	C	NM_006536		86904570	86904570	+1	no_errors	ENST00000370565	ensembl	human	known	69_37n	silent	199	14.22	33	SNP	0.788	A
CNTN4	152330	genome.wustl.edu	37	3	3084016	3084016	+	Silent	SNP	T	T	C			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr3:3084016T>C	ENST00000397461.1	+	20	2805	c.2421T>C	c.(2419-2421)agT>agC	p.S807S	CNTN4_ENST00000418658.1_Silent_p.S807S|CNTN4_ENST00000358480.3_Silent_p.S588S|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Silent_p.S807S|CNTN4_ENST00000397459.2_Silent_p.S479S|CNTN4_ENST00000448906.2_Silent_p.S479S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	807	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CACCAGCCAGTATCTTTGCCA	0.413																																						dbGAP											0													101.0	96.0	98.0					3																	3084016		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2421T>C	3.37:g.3084016T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S807	ENST00000397461.1	37	c.2421	CCDS43041.1	3																																																																																			CNTN4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144619		0.413	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	139	0.00	0	T			3084016	3084016	+1	no_errors	ENST00000397461	ensembl	human	known	69_37n	silent	114	15.56	21	SNP	0.929	C
CNTN4	152330	genome.wustl.edu	37	3	3084016	3084016	+	Silent	SNP	T	T	C			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr3:3084016T>C	ENST00000397461.1	+	20	2805	c.2421T>C	c.(2419-2421)agT>agC	p.S807S	CNTN4_ENST00000418658.1_Silent_p.S807S|CNTN4_ENST00000358480.3_Silent_p.S588S|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Silent_p.S807S|CNTN4_ENST00000397459.2_Silent_p.S479S|CNTN4_ENST00000448906.2_Silent_p.S479S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	807	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CACCAGCCAGTATCTTTGCCA	0.413																																						dbGAP											0													101.0	96.0	98.0					3																	3084016		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2421T>C	3.37:g.3084016T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S807	ENST00000397461.1	37	c.2421	CCDS43041.1	3																																																																																			CNTN4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144619		0.413	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	151	0.00	0	T			3084016	3084016	+1	no_errors	ENST00000397461	ensembl	human	known	69_37n	silent	114	15.56	21	SNP	0.929	C
CREM	1390	genome.wustl.edu	37	10	35500300	35500300	+	Intron	SNP	G	G	T			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr10:35500300G>T	ENST00000395895.2	+	10	1100				RP11-324I22.3_ENST00000602435.1_RNA|CREM_ENST00000342105.3_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000488741.1_Missense_Mutation_p.D95Y|CREM_ENST00000487763.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000439705.1_Missense_Mutation_p.D278Y|CREM_ENST00000395887.3_Intron|CREM_ENST00000474931.1_Missense_Mutation_p.D105Y|CREM_ENST00000484283.1_Intron|CREM_ENST00000374721.3_Missense_Mutation_p.D262Y|CREM_ENST00000473940.1_Missense_Mutation_p.D113Y|CREM_ENST00000344351.5_Missense_Mutation_p.D88Y|CREM_ENST00000463314.1_Intron|CREM_ENST00000468236.1_Intron|CREM_ENST00000460270.1_Missense_Mutation_p.D88Y|CREM_ENST00000333809.8_Missense_Mutation_p.D341Y|CREM_ENST00000354759.3_Missense_Mutation_p.D241Y|CREM_ENST00000490511.1_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000374734.3_Missense_Mutation_p.D229Y|CREM_ENST00000345491.3_Intron|CREM_ENST00000356917.5_Missense_Mutation_p.D101Y|CREM_ENST00000337656.4_Missense_Mutation_p.D292Y|CREM_ENST00000488328.1_Intron|CREM_ENST00000463960.1_Intron			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						GGCCCTCAAAGATCTTTATTG	0.413																																						dbGAP											0													100.0	88.0	92.0					10																	35500300		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.939-284G>T	10.37:g.35500300G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_Coactivator_CBP_pKID,pfam_bZIP_2,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.D341Y	ENST00000395895.2	37	c.1021		10	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562280	0.65538	.	.	ENSG00000095794	ENST00000460270;ENST00000354759;ENST00000333809;ENST00000439705;ENST00000374734;ENST00000337656;ENST00000462058;ENST00000374721;ENST00000473940;ENST00000356917;ENST00000488741;ENST00000474931;ENST00000344351	T;T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.985;1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	0.956;1.0;1.0;0.981;0.996;0.999;0.992	T	0.75584	-0.3267	10	0.87932	D	0	.	19.7263	0.96165	0.0:0.0:1.0:0.0	.	105;95;101;113;229;292;241	A8K014;A8K6A1;A8K3J7;Q5W1B2;A8MPQ2;E9PHM1;Q5W1B0	.;.;.;.;.;.;.	Y	88;241;341;278;229;292;262;325;113;101;95;105;88	ENSP00000420437:D88Y;ENSP00000346804:D241Y;ENSP00000333055:D341Y;ENSP00000409220:D278Y;ENSP00000363866:D229Y;ENSP00000337138:D292Y;ENSP00000420681:D113Y;ENSP00000349387:D101Y;ENSP00000419075:D95Y;ENSP00000417562:D105Y;ENSP00000344365:D88Y	ENSP00000333055:D341Y	D	+	1	0	CREM	35540306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.853000	0.86934	2.664000	0.90586	0.650000	0.86243	GAT	CREM	-	pfam_bZIP_1,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB	ENSG00000095794		0.413	CREM-203	KNOWN	basic|appris_principal	protein_coding	CREM	HGNC	protein_coding		51	0.00	0	G	NM_001881		35500300	35500300	+1	no_errors	ENST00000333809	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	1.000	T
CREM	1390	genome.wustl.edu	37	10	35500300	35500300	+	Intron	SNP	G	G	T			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr10:35500300G>T	ENST00000395895.2	+	10	1100				RP11-324I22.3_ENST00000602435.1_RNA|CREM_ENST00000342105.3_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000488741.1_Missense_Mutation_p.D95Y|CREM_ENST00000487763.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000439705.1_Missense_Mutation_p.D278Y|CREM_ENST00000395887.3_Intron|CREM_ENST00000474931.1_Missense_Mutation_p.D105Y|CREM_ENST00000484283.1_Intron|CREM_ENST00000374721.3_Missense_Mutation_p.D262Y|CREM_ENST00000473940.1_Missense_Mutation_p.D113Y|CREM_ENST00000344351.5_Missense_Mutation_p.D88Y|CREM_ENST00000463314.1_Intron|CREM_ENST00000468236.1_Intron|CREM_ENST00000460270.1_Missense_Mutation_p.D88Y|CREM_ENST00000333809.8_Missense_Mutation_p.D341Y|CREM_ENST00000354759.3_Missense_Mutation_p.D241Y|CREM_ENST00000490511.1_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000374734.3_Missense_Mutation_p.D229Y|CREM_ENST00000345491.3_Intron|CREM_ENST00000356917.5_Missense_Mutation_p.D101Y|CREM_ENST00000337656.4_Missense_Mutation_p.D292Y|CREM_ENST00000488328.1_Intron|CREM_ENST00000463960.1_Intron			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						GGCCCTCAAAGATCTTTATTG	0.413																																						dbGAP											0													100.0	88.0	92.0					10																	35500300		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.939-284G>T	10.37:g.35500300G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_Coactivator_CBP_pKID,pfam_bZIP_2,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.D341Y	ENST00000395895.2	37	c.1021		10	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562280	0.65538	.	.	ENSG00000095794	ENST00000460270;ENST00000354759;ENST00000333809;ENST00000439705;ENST00000374734;ENST00000337656;ENST00000462058;ENST00000374721;ENST00000473940;ENST00000356917;ENST00000488741;ENST00000474931;ENST00000344351	T;T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.985;1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	0.956;1.0;1.0;0.981;0.996;0.999;0.992	T	0.75584	-0.3267	10	0.87932	D	0	.	19.7263	0.96165	0.0:0.0:1.0:0.0	.	105;95;101;113;229;292;241	A8K014;A8K6A1;A8K3J7;Q5W1B2;A8MPQ2;E9PHM1;Q5W1B0	.;.;.;.;.;.;.	Y	88;241;341;278;229;292;262;325;113;101;95;105;88	ENSP00000420437:D88Y;ENSP00000346804:D241Y;ENSP00000333055:D341Y;ENSP00000409220:D278Y;ENSP00000363866:D229Y;ENSP00000337138:D292Y;ENSP00000420681:D113Y;ENSP00000349387:D101Y;ENSP00000419075:D95Y;ENSP00000417562:D105Y;ENSP00000344365:D88Y	ENSP00000333055:D341Y	D	+	1	0	CREM	35540306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.853000	0.86934	2.664000	0.90586	0.650000	0.86243	GAT	CREM	-	pfam_bZIP_1,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB	ENSG00000095794		0.413	CREM-203	KNOWN	basic|appris_principal	protein_coding	CREM	HGNC	protein_coding		79	0.00	0	G	NM_001881		35500300	35500300	+1	no_errors	ENST00000333809	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	1.000	T
DIP2A	23181	genome.wustl.edu	37	21	47978305	47978306	+	Splice_Site	INS	-	-	G			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr21:47978305_47978306insG	ENST00000417564.2	+	32	3989_3990	c.3968_3969insG	c.(3967-3972)cagggc>caGgggc	p.QG1323fs	DIP2A_ENST00000400274.1_Splice_Site_p.QG1319fs|DIP2A_ENST00000318711.7_Splice_Site_p.QG1324fs			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1323					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ATCTGCCTCCAGGTGAGGTGCC	0.609																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.3969+1->G	21.37:g.47978307_47978307dupG		Somatic		WXS	Illumina GAIIx	Phase_IV	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Frame_Shift_Ins	INS	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.T1326fs	ENST00000417564.2	37	c.3971_3972	CCDS46655.1	21																																																																																			DIP2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000160305		0.609	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	8	0.00	0	-	NM_015151	Frame_Shift_Ins	47978305	47978306	+1	no_errors	ENST00000318711	ensembl	human	known	69_37n	frame_shift_ins	5	37.50	3	INS	1.000:1.000	G
UGT1A6	54578	genome.wustl.edu	37	2	234652187	234652188	+	Intron	INS	-	-	C	rs544018510	byFrequency	TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr2:234652187_234652188insC	ENST00000305139.6	+	2	1000				UGT1A10_ENST00000373445.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	AGTTCCTCTGACCCCCCCAAAA	0.54													cccccc|CCCCCCC|CCCCCCCC|cryptic_indel	31	0.0061901	0.0212	0.0043	5008	,	,		16507	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23492->C	2.37:g.234652194_234652194dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKK6|B8K289|Q96TE7	RNA	INS	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			DNAJB3	-	-	ENSG00000227802		0.540	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB3	HGNC	protein_coding	OTTHUMT00000130988.1	66	0.00	0	-	NM_205862		234652187	234652188	-1	no_errors	ENST00000449667	ensembl	human	known	69_37n	rna	44	10.20	5	INS	0.050:0.014	C
FBN3	84467	genome.wustl.edu	37	19	8193948	8193949	+	Frame_Shift_Ins	INS	-	-	G	rs60853419		TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr19:8193948_8193949insG	ENST00000600128.1	-	18	2673_2674	c.2259_2260insC	c.(2257-2262)cccggcfs	p.G754fs	FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G754fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G754fs			Q75N90	FBN3_HUMAN	fibrillin 3	754	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGTGGAAGCCGGGGGGGCAGG	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2260dupC	19.37:g.8193955_8193955dupG	ENSP00000470498:p.Gly754fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.G753fs	ENST00000600128.1	37	c.2260_2259	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000142449		0.599	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	20	0.00	0	-	NM_032447		8193948	8193949	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	1.000:0.646	G
FBN3	84467	genome.wustl.edu	37	19	8193948	8193949	+	Frame_Shift_Ins	INS	-	-	G	rs60853419		TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr19:8193948_8193949insG	ENST00000600128.1	-	18	2673_2674	c.2259_2260insC	c.(2257-2262)cccggcfs	p.G754fs	FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G754fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G754fs			Q75N90	FBN3_HUMAN	fibrillin 3	754	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGTGGAAGCCGGGGGGGCAGG	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2260dupC	19.37:g.8193955_8193955dupG	ENSP00000470498:p.Gly754fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.G753fs	ENST00000600128.1	37	c.2260_2259	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000142449		0.599	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	20	0.00	0	-	NM_032447		8193948	8193949	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	1.000:0.646	G
FREM2	341640	genome.wustl.edu	37	13	39266380	39266380	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr13:39266380T>A	ENST00000280481.7	+	1	5115	c.4899T>A	c.(4897-4899)gaT>gaA	p.D1633E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1633					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTTTCCTGATACGGTGTTTG	0.463																																						dbGAP											0													92.0	93.0	93.0					13																	39266380		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4899T>A	13.37:g.39266380T>A	ENSP00000280481:p.Asp1633Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.D1633E	ENST00000280481.7	37	c.4899	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	T	6.257	0.415557	0.11870	.	.	ENSG00000150893	ENST00000280481	T	0.39997	1.05	5.71	-0.818	0.10833	.	0.203465	0.49305	D	0.000152	T	0.41511	0.1162	M	0.79123	2.44	0.50171	D	0.999852	P	0.34639	0.461	B	0.35770	0.21	T	0.38351	-0.9665	10	0.34782	T	0.22	.	11.9534	0.52968	0.0:0.4538:0.0:0.5462	.	1633	Q5SZK8	FREM2_HUMAN	E	1633	ENSP00000280481:D1633E	ENSP00000280481:D1633E	D	+	3	2	FREM2	38164380	0.044000	0.20184	0.595000	0.28798	0.144000	0.21451	-0.695000	0.05109	-0.092000	0.12417	0.460000	0.39030	GAT	FREM2	-	NULL	ENSG00000150893		0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	89	0.00	0	T	NM_207361		39266380	39266380	+1	no_errors	ENST00000280481	ensembl	human	known	69_37n	missense	79	34.17	41	SNP	0.986	A
FREM2	341640	genome.wustl.edu	37	13	39266380	39266380	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr13:39266380T>A	ENST00000280481.7	+	1	5115	c.4899T>A	c.(4897-4899)gaT>gaA	p.D1633E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1633					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTTTCCTGATACGGTGTTTG	0.463																																						dbGAP											0													92.0	93.0	93.0					13																	39266380		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4899T>A	13.37:g.39266380T>A	ENSP00000280481:p.Asp1633Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.D1633E	ENST00000280481.7	37	c.4899	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	T	6.257	0.415557	0.11870	.	.	ENSG00000150893	ENST00000280481	T	0.39997	1.05	5.71	-0.818	0.10833	.	0.203465	0.49305	D	0.000152	T	0.41511	0.1162	M	0.79123	2.44	0.50171	D	0.999852	P	0.34639	0.461	B	0.35770	0.21	T	0.38351	-0.9665	10	0.34782	T	0.22	.	11.9534	0.52968	0.0:0.4538:0.0:0.5462	.	1633	Q5SZK8	FREM2_HUMAN	E	1633	ENSP00000280481:D1633E	ENSP00000280481:D1633E	D	+	3	2	FREM2	38164380	0.044000	0.20184	0.595000	0.28798	0.144000	0.21451	-0.695000	0.05109	-0.092000	0.12417	0.460000	0.39030	GAT	FREM2	-	NULL	ENSG00000150893		0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	159	0.00	0	T	NM_207361		39266380	39266380	+1	no_errors	ENST00000280481	ensembl	human	known	69_37n	missense	79	34.17	41	SNP	0.986	A
HPS4	89781	genome.wustl.edu	37	22	26860722	26860722	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr22:26860722C>A	ENST00000398145.2	-	11	1490	c.874G>T	c.(874-876)Gcc>Tcc	p.A292S	HPS4_ENST00000398141.1_Missense_Mutation_p.A305S|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Missense_Mutation_p.A292S|HPS4_ENST00000402105.3_Missense_Mutation_p.A287S	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	292					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCTTTCAGGGCAGATGTGCTC	0.562									Hermansky-Pudlak syndrome																													dbGAP											0													107.0	88.0	94.0					22																	26860722		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.874G>T	22.37:g.26860722C>A	ENSP00000381213:p.Ala292Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.A305S	ENST00000398145.2	37	c.913	CCDS13835.1	22	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818754	0.32145	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;D;T;T;D	0.87887	1.4;-2.31;1.4;1.4;-2.31	4.66	-0.128	0.13506	.	0.616095	0.15614	N	0.253229	T	0.79082	0.4386	L	0.50333	1.59	0.09310	N	1	P;P;B;P;B;B	0.38677	0.642;0.642;0.386;0.573;0.047;0.386	B;B;B;B;B;B	0.38458	0.274;0.274;0.178;0.23;0.02;0.178	T	0.65656	-0.6115	10	0.23302	T	0.38	-5.2044	4.6539	0.12608	0.0:0.4476:0.3473:0.2051	.	292;292;292;292;305;287	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	S	292;305;287;292;310;310	ENSP00000381213:A292S;ENSP00000381210:A305S;ENSP00000384185:A287S;ENSP00000338457:A292S;ENSP00000415081:A310S	ENSP00000325840:A310S	A	-	1	0	HPS4	25190722	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.576000	0.23744	-0.078000	0.12730	0.655000	0.94253	GCC	HPS4	-	NULL	ENSG00000100099		0.562	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	84	0.00	0	C	NM_022081		26860722	26860722	-1	no_errors	ENST00000398141	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	0.000	A
HPS4	89781	genome.wustl.edu	37	22	26860722	26860722	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr22:26860722C>A	ENST00000398145.2	-	11	1490	c.874G>T	c.(874-876)Gcc>Tcc	p.A292S	HPS4_ENST00000398141.1_Missense_Mutation_p.A305S|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Missense_Mutation_p.A292S|HPS4_ENST00000402105.3_Missense_Mutation_p.A287S	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	292					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCTTTCAGGGCAGATGTGCTC	0.562									Hermansky-Pudlak syndrome																													dbGAP											0													107.0	88.0	94.0					22																	26860722		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.874G>T	22.37:g.26860722C>A	ENSP00000381213:p.Ala292Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.A305S	ENST00000398145.2	37	c.913	CCDS13835.1	22	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818754	0.32145	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;D;T;T;D	0.87887	1.4;-2.31;1.4;1.4;-2.31	4.66	-0.128	0.13506	.	0.616095	0.15614	N	0.253229	T	0.79082	0.4386	L	0.50333	1.59	0.09310	N	1	P;P;B;P;B;B	0.38677	0.642;0.642;0.386;0.573;0.047;0.386	B;B;B;B;B;B	0.38458	0.274;0.274;0.178;0.23;0.02;0.178	T	0.65656	-0.6115	10	0.23302	T	0.38	-5.2044	4.6539	0.12608	0.0:0.4476:0.3473:0.2051	.	292;292;292;292;305;287	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	S	292;305;287;292;310;310	ENSP00000381213:A292S;ENSP00000381210:A305S;ENSP00000384185:A287S;ENSP00000338457:A292S;ENSP00000415081:A310S	ENSP00000325840:A310S	A	-	1	0	HPS4	25190722	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.576000	0.23744	-0.078000	0.12730	0.655000	0.94253	GCC	HPS4	-	NULL	ENSG00000100099		0.562	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	64	0.00	0	C	NM_022081		26860722	26860722	-1	no_errors	ENST00000398141	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	0.000	A
IL27RA	9466	genome.wustl.edu	37	19	14162703	14162704	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr19:14162703_14162704insGC	ENST00000263379.2	+	13	1759_1760	c.1634_1635insGC	c.(1633-1638)ctaaggfs	p.R546fs		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	546					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGCTACCACCTAAGGCACAAAG	0.604																																					Colon(164;1849 1896 4443 37792 47834)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		Exception_encountered	19.37:g.14162703_14162704insGC	ENSP00000263379:p.Arg546fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0L1|O60624	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R546fs	ENST00000263379.2	37	c.1634_1635	CCDS12303.1	19																																																																																			IL27RA	-	NULL	ENSG00000104998		0.604	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	43	0.00	0	-	NM_004843		14162703	14162704	+1	no_errors	ENST00000263379	ensembl	human	known	69_37n	frame_shift_ins	33	28.26	13	INS	0.083:0.000	GC
IL27RA	9466	genome.wustl.edu	37	19	14162703	14162704	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr19:14162703_14162704insGC	ENST00000263379.2	+	13	1759_1760	c.1634_1635insGC	c.(1633-1638)ctaaggfs	p.R546fs		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	546					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGCTACCACCTAAGGCACAAAG	0.604																																					Colon(164;1849 1896 4443 37792 47834)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		Exception_encountered	19.37:g.14162703_14162704insGC	ENSP00000263379:p.Arg546fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0L1|O60624	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R546fs	ENST00000263379.2	37	c.1634_1635	CCDS12303.1	19																																																																																			IL27RA	-	NULL	ENSG00000104998		0.604	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	17	0.00	0	-	NM_004843		14162703	14162704	+1	no_errors	ENST00000263379	ensembl	human	known	69_37n	frame_shift_ins	33	28.26	13	INS	0.083:0.000	GC
LZTS2	84445	genome.wustl.edu	37	10	102766351	102766352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr10:102766351_102766352insT	ENST00000370220.1	+	4	4499_4500	c.1436_1437insT	c.(1435-1440)cgggagfs	p.E480fs	LZTS2_ENST00000370223.3_Frame_Shift_Ins_p.E480fs					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GTGGCGCTGCGGGAGGCCCGTG	0.673																																					Esophageal Squamous(8;38 437 13604 19902 37640)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	Exception_encountered	10.37:g.102766351_102766352insT	ENSP00000359240:p.Glu480fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Fez1	p.E480fs	ENST00000370220.1	37	c.1436_1437	CCDS7507.1	10																																																																																			LZTS2	-	pfam_Fez1	ENSG00000107816		0.673	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LZTS2	HGNC	protein_coding	OTTHUMT00000049872.1	10	0.00	0	-	XM_046743		102766351	102766352	+1	no_errors	ENST00000370220	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.992:0.983	T
MYCN	4613	genome.wustl.edu	37	2	16082313	16082314	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr2:16082313_16082314insC	ENST00000281043.3	+	2	424_425	c.127_128insC	c.(127-129)accfs	p.T43fs	MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000448719.1_RNA|MYCNOS_ENST00000439180.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	43					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCCCGACTCGACCCCCCCGGGG	0.658			A		neuroblastoma																																	dbGAP		Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	0																																										-	-	-	SO:0001589	frameshift_variant	0			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.134dupC	2.37:g.16082320_16082320dupC	ENSP00000281043:p.Thr43fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XS5|Q6LDT9	Frame_Shift_Ins	INS	pfam_Tscrpt_reg_Myc_N,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc	p.G47fs	ENST00000281043.3	37	c.127_128	CCDS1687.1	2																																																																																			MYCN	-	pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc	ENSG00000134323		0.658	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCN	HGNC	protein_coding	OTTHUMT00000095469.2	19	0.00	0	-	NM_005378		16082313	16082314	+1	no_errors	ENST00000281043	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:1.000	C
MYCN	4613	genome.wustl.edu	37	2	16082313	16082314	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr2:16082313_16082314insC	ENST00000281043.3	+	2	424_425	c.127_128insC	c.(127-129)accfs	p.T43fs	MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000448719.1_RNA|MYCNOS_ENST00000439180.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	43					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCCCGACTCGACCCCCCCGGGG	0.658			A		neuroblastoma																																	dbGAP		Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	0																																										-	-	-	SO:0001589	frameshift_variant	0			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.134dupC	2.37:g.16082320_16082320dupC	ENSP00000281043:p.Thr43fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XS5|Q6LDT9	Frame_Shift_Ins	INS	pfam_Tscrpt_reg_Myc_N,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc	p.G47fs	ENST00000281043.3	37	c.127_128	CCDS1687.1	2																																																																																			MYCN	-	pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc	ENSG00000134323		0.658	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCN	HGNC	protein_coding	OTTHUMT00000095469.2	10	0.00	0	-	NM_005378		16082313	16082314	+1	no_errors	ENST00000281043	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:1.000	C
NACA	4666	genome.wustl.edu	37	12	57111533	57111534	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr12:57111533_57111534insG	ENST00000454682.1	-	3	4061_4062	c.3780_3781insC	c.(3778-3783)cccaaafs	p.K1261fs	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1261	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGCCCCTTTGGGGGGTGGGG	0.649			T	BCL6	NHL																																	dbGAP		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3781dupC	12.37:g.57111539_57111539dupG	ENSP00000403817:p.Lys1261fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx	p.K1260fs	ENST00000454682.1	37	c.3781_3780		12																																																																																			NACA	-	NULL	ENSG00000196531		0.649	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		10	0.00	0	-	NM_005594		57111533	57111534	-1	no_errors	ENST00000454682	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.000:0.000	G
NOTCH2	4853	genome.wustl.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	GG	GG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P6fs	ENST00000256646.2	37	c.18_17	CCDS908.1	1																																																																																			NOTCH2	-	pirsf_Notch	ENSG00000134250		0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	10	0.00	0	GG	NM_024408		120612003	120612004	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.101:0.700	-
OPN1LW	5956	genome.wustl.edu	37	X	153421964	153421964	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chrX:153421964G>A	ENST00000369951.4	+	5	1000	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	314					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCAAAAGTGCCACTATCTA	0.537																																						dbGAP											0													292.0	264.0	274.0					X																	153421964		2194	4272	6466	-	-	-	SO:0001583	missense	0			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.940G>A	X.37:g.153421964G>A	ENSP00000358967:p.Ala314Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_red/grn,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.A314T	ENST00000369951.4	37	c.940	CCDS14742.1	X	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115560	0.77323	.	.	ENSG00000102076	ENST00000369951	T	0.36157	1.27	4.57	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.91038	3.17	0.53005	D	0.999969	D	0.71674	0.998	D	0.71414	0.973	T	0.70850	-0.4760	10	0.87932	D	0	.	10.1068	0.42539	0.0:0.0:0.6687:0.3313	.	314	P04000	OPSR_HUMAN	T	314	ENSP00000358967:A314T	ENSP00000358967:A314T	A	+	1	0	OPN1LW	153075158	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	1.208000	0.32345	1.989000	0.58080	0.436000	0.28706	GCC	OPN1LW	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000102076		0.537	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1LW	HGNC	protein_coding	OTTHUMT00000082839.2	218	0.00	0	G	NM_020061		153421964	153421964	+1	no_errors	ENST00000369951	ensembl	human	known	69_37n	missense	238	12.50	34	SNP	1.000	A
OPN1LW	5956	genome.wustl.edu	37	X	153421964	153421964	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chrX:153421964G>A	ENST00000369951.4	+	5	1000	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	314					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCAAAAGTGCCACTATCTA	0.537																																						dbGAP											0													292.0	264.0	274.0					X																	153421964		2194	4272	6466	-	-	-	SO:0001583	missense	0			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.940G>A	X.37:g.153421964G>A	ENSP00000358967:p.Ala314Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_red/grn,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.A314T	ENST00000369951.4	37	c.940	CCDS14742.1	X	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115560	0.77323	.	.	ENSG00000102076	ENST00000369951	T	0.36157	1.27	4.57	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.91038	3.17	0.53005	D	0.999969	D	0.71674	0.998	D	0.71414	0.973	T	0.70850	-0.4760	10	0.87932	D	0	.	10.1068	0.42539	0.0:0.0:0.6687:0.3313	.	314	P04000	OPSR_HUMAN	T	314	ENSP00000358967:A314T	ENSP00000358967:A314T	A	+	1	0	OPN1LW	153075158	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	1.208000	0.32345	1.989000	0.58080	0.436000	0.28706	GCC	OPN1LW	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000102076		0.537	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1LW	HGNC	protein_coding	OTTHUMT00000082839.2	228	0.00	0	G	NM_020061		153421964	153421964	+1	no_errors	ENST00000369951	ensembl	human	known	69_37n	missense	238	12.50	34	SNP	1.000	A
OR10G9	219870	genome.wustl.edu	37	11	123894588	123894588	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr11:123894588G>A	ENST00000375024.1	+	1	869	c.869G>A	c.(868-870)aGa>aAa	p.R290K		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R290I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TACACCCTGAGAAACAAGGAG	0.448																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											110.0	105.0	107.0					11																	123894588		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.869G>A	11.37:g.123894588G>A	ENSP00000364164:p.Arg290Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R290K	ENST00000375024.1	37	c.869	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	G	17.36	3.371146	0.61624	.	.	ENSG00000236981	ENST00000375024	T	0.39997	1.05	3.38	3.38	0.38709	.	0.000000	0.46758	D	0.000273	T	0.51736	0.1692	L	0.33792	1.035	0.32030	N	0.599706	D	0.69078	0.997	D	0.79108	0.992	T	0.61691	-0.7011	10	0.66056	D	0.02	.	14.028	0.64597	0.0:0.0:1.0:0.0	.	290	Q8NGN4	O10G9_HUMAN	K	290	ENSP00000364164:R290K	ENSP00000364164:R290K	R	+	2	0	OR10G9	123399798	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	4.356000	0.59430	1.884000	0.54569	0.585000	0.79938	AGA	OR10G9	-	prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000236981		0.448	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1	318	0.31	1	G	NM_001001953		123894588	123894588	+1	no_errors	ENST00000375024	ensembl	human	known	69_37n	missense	196	22.83	58	SNP	1.000	A
OR10G9	219870	genome.wustl.edu	37	11	123894588	123894588	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr11:123894588G>A	ENST00000375024.1	+	1	869	c.869G>A	c.(868-870)aGa>aAa	p.R290K		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R290I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TACACCCTGAGAAACAAGGAG	0.448																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											110.0	105.0	107.0					11																	123894588		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.869G>A	11.37:g.123894588G>A	ENSP00000364164:p.Arg290Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R290K	ENST00000375024.1	37	c.869	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	G	17.36	3.371146	0.61624	.	.	ENSG00000236981	ENST00000375024	T	0.39997	1.05	3.38	3.38	0.38709	.	0.000000	0.46758	D	0.000273	T	0.51736	0.1692	L	0.33792	1.035	0.32030	N	0.599706	D	0.69078	0.997	D	0.79108	0.992	T	0.61691	-0.7011	10	0.66056	D	0.02	.	14.028	0.64597	0.0:0.0:1.0:0.0	.	290	Q8NGN4	O10G9_HUMAN	K	290	ENSP00000364164:R290K	ENSP00000364164:R290K	R	+	2	0	OR10G9	123399798	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	4.356000	0.59430	1.884000	0.54569	0.585000	0.79938	AGA	OR10G9	-	prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000236981		0.448	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1	212	0.00	0	G	NM_001001953		123894588	123894588	+1	no_errors	ENST00000375024	ensembl	human	known	69_37n	missense	196	22.83	58	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.N345K(44)		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)	CCTACGTGAATGTAAATATTC	0.308		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"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	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.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	69	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	104	11.86	14	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.N345K(44)		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)	CCTACGTGAATGTAAATATTC	0.308		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"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	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.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	117	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	104	11.86	14	SNP	1.000	A
POM121	9883	genome.wustl.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765|rs148686669	byFrequency	TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr7:72413723_72413724insCTC	ENST00000434423.2	+	11	3191_3192	c.3191_3192insCTC	c.(3190-3195)ttcttc>ttCTCcttc	p.1064_1065FF>FSF	POM121_ENST00000446813.1_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000358357.3_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000257622.4_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000395270.1_In_Frame_Ins_p.799_800FF>FSF			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	Exception_encountered	7.37:g.72413723_72413724insCTC	ENSP00000405562:p.Phe1064_Phe1065insSer	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	In_Frame_Ins	INS	NULL	p.1065in_frame_insS	ENST00000434423.2	37	c.3191_3192		7																																																																																			POM121	-	NULL	ENSG00000196313		0.663	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	18	0.00	0	-			72413723	72413724	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	in_frame_ins	19	13.64	3	INS	0.980:0.870	CTC
PTCHD1	139411	genome.wustl.edu	37	X	23398006	23398006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chrX:23398006C>A	ENST00000379361.4	+	2	1510	c.650C>A	c.(649-651)tCa>tAa	p.S217*		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	217					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TACCTGCAGTCAATCAACAGT	0.522																																						dbGAP											0													178.0	166.0	170.0					X																	23398006		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.650C>A	X.37:g.23398006C>A	ENSP00000368666:p.Ser217*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQH0|Q0IJ60|Q6P6B8	Nonsense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.S217*	ENST00000379361.4	37	c.650	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	C	44	11.016810	0.99503	.	.	ENSG00000165186	ENST00000379361	.	.	.	4.86	4.86	0.63082	.	0.249621	0.38720	N	0.001599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.4049	0.87470	0.0:1.0:0.0:0.0	.	.	.	.	X	217	.	ENSP00000368666:S217X	S	+	2	0	PTCHD1	23307927	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.547000	0.53663	2.381000	0.81170	0.600000	0.82982	TCA	PTCHD1	-	pfam_Patched	ENSG00000165186		0.522	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	221	0.00	0	C	NM_173495		23398006	23398006	+1	no_errors	ENST00000379361	ensembl	human	known	69_37n	nonsense	237	13.50	37	SNP	1.000	A
PTCHD1	139411	genome.wustl.edu	37	X	23398006	23398006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chrX:23398006C>A	ENST00000379361.4	+	2	1510	c.650C>A	c.(649-651)tCa>tAa	p.S217*		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	217					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TACCTGCAGTCAATCAACAGT	0.522																																						dbGAP											0													178.0	166.0	170.0					X																	23398006		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.650C>A	X.37:g.23398006C>A	ENSP00000368666:p.Ser217*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQH0|Q0IJ60|Q6P6B8	Nonsense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.S217*	ENST00000379361.4	37	c.650	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	C	44	11.016810	0.99503	.	.	ENSG00000165186	ENST00000379361	.	.	.	4.86	4.86	0.63082	.	0.249621	0.38720	N	0.001599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.4049	0.87470	0.0:1.0:0.0:0.0	.	.	.	.	X	217	.	ENSP00000368666:S217X	S	+	2	0	PTCHD1	23307927	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.547000	0.53663	2.381000	0.81170	0.600000	0.82982	TCA	PTCHD1	-	pfam_Patched	ENSG00000165186		0.522	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	275	0.00	0	C	NM_173495		23398006	23398006	+1	no_errors	ENST00000379361	ensembl	human	known	69_37n	nonsense	237	13.50	37	SNP	1.000	A
SLC35B1	10237	genome.wustl.edu	37	17	47780313	47780313	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr17:47780313T>C	ENST00000240333.6	-	8	944	c.823A>G	c.(823-825)Act>Gct	p.T275A	SLC35B1_ENST00000415270.2_Missense_Mutation_p.T312A			P78383	S35B1_HUMAN	solute carrier family 35, member B1	275					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AACTTTCGAGTTGTAGTGATG	0.502																																						dbGAP											0													149.0	142.0	144.0					17																	47780313		2203	4300	6503	-	-	-	SO:0001583	missense	0			D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.823A>G	17.37:g.47780313T>C	ENSP00000240333:p.Thr275Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	pfam_UAA,pfam_DMT,pfam_DUF250	p.T312A	ENST00000240333.6	37	c.934	CCDS11552.1	17	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595894	0.86953	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.70164	-0.46;-0.46;1.48	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	M	0.89095	3.005	0.80722	D	1	D;D	0.60575	0.988;0.988	P;D	0.63877	0.893;0.919	D	0.86401	0.1742	10	0.66056	D	0.02	-8.0175	14.8245	0.70101	0.0:0.0:0.0:1.0	.	208;275	D3DTX1;P78383	.;S35B1_HUMAN	A	275;312;151;151;208	ENSP00000240333:T275A;ENSP00000409548:T312A;ENSP00000423323:T208A	ENSP00000240333:T275A	T	-	1	0	SLC35B1	45135312	1.000000	0.71417	0.962000	0.40283	0.886000	0.51366	7.645000	0.83430	2.153000	0.67306	0.533000	0.62120	ACT	SLC35B1	-	pfam_UAA,pfam_DMT,pfam_DUF250	ENSG00000121073		0.502	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B1	HGNC	protein_coding	OTTHUMT00000365564.2	103	0.00	0	T	NM_005827		47780313	47780313	-1	no_errors	ENST00000415270	ensembl	human	known	69_37n	missense	90	14.29	15	SNP	1.000	C
SLC35B1	10237	genome.wustl.edu	37	17	47780313	47780313	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr17:47780313T>C	ENST00000240333.6	-	8	944	c.823A>G	c.(823-825)Act>Gct	p.T275A	SLC35B1_ENST00000415270.2_Missense_Mutation_p.T312A			P78383	S35B1_HUMAN	solute carrier family 35, member B1	275					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AACTTTCGAGTTGTAGTGATG	0.502																																						dbGAP											0													149.0	142.0	144.0					17																	47780313		2203	4300	6503	-	-	-	SO:0001583	missense	0			D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.823A>G	17.37:g.47780313T>C	ENSP00000240333:p.Thr275Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	pfam_UAA,pfam_DMT,pfam_DUF250	p.T312A	ENST00000240333.6	37	c.934	CCDS11552.1	17	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595894	0.86953	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.70164	-0.46;-0.46;1.48	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	M	0.89095	3.005	0.80722	D	1	D;D	0.60575	0.988;0.988	P;D	0.63877	0.893;0.919	D	0.86401	0.1742	10	0.66056	D	0.02	-8.0175	14.8245	0.70101	0.0:0.0:0.0:1.0	.	208;275	D3DTX1;P78383	.;S35B1_HUMAN	A	275;312;151;151;208	ENSP00000240333:T275A;ENSP00000409548:T312A;ENSP00000423323:T208A	ENSP00000240333:T275A	T	-	1	0	SLC35B1	45135312	1.000000	0.71417	0.962000	0.40283	0.886000	0.51366	7.645000	0.83430	2.153000	0.67306	0.533000	0.62120	ACT	SLC35B1	-	pfam_UAA,pfam_DMT,pfam_DUF250	ENSG00000121073		0.502	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B1	HGNC	protein_coding	OTTHUMT00000365564.2	115	0.00	0	T	NM_005827		47780313	47780313	-1	no_errors	ENST00000415270	ensembl	human	known	69_37n	missense	90	14.29	15	SNP	1.000	C
SLC5A12	159963	genome.wustl.edu	37	11	26720081	26720081	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr11:26720081C>T	ENST00000396005.3	-	7	1132	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	SLC5A12_ENST00000280467.6_Splice_Site_p.A275T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	275					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAATACAAGGCACTAGAAAAG	0.438																																						dbGAP											0													105.0	95.0	99.0					11																	26720081		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.822-1G>A	11.37:g.26720081C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UC7	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.A275T	ENST00000396005.3	37	c.823	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445825	0.84101	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.89343	-2.5;-2.5;-2.5	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	M	0.64404	1.975	0.80722	D	1	D;D	0.69078	0.974;0.997	P;D	0.70227	0.901;0.968	D	0.93625	0.6951	10	0.87932	D	0	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	275;275	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	T	275;275;87	ENSP00000379326:A275T;ENSP00000280467:A275T;ENSP00000435053:A87T	ENSP00000280467:A275T	A	-	1	0	SLC5A12	26676657	1.000000	0.71417	0.974000	0.42286	0.600000	0.36913	5.952000	0.70282	2.890000	0.99128	0.650000	0.86243	GCC	SLC5A12	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000148942		0.438	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	80	0.00	0	C	NM_178498	Missense_Mutation	26720081	26720081	-1	no_errors	ENST00000396005	ensembl	human	known	69_37n	missense	161	12.90	24	SNP	0.999	T
SLC5A12	159963	genome.wustl.edu	37	11	26720081	26720081	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr11:26720081C>T	ENST00000396005.3	-	7	1132	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	SLC5A12_ENST00000280467.6_Splice_Site_p.A275T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	275					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAATACAAGGCACTAGAAAAG	0.438																																						dbGAP											0													105.0	95.0	99.0					11																	26720081		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.822-1G>A	11.37:g.26720081C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UC7	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.A275T	ENST00000396005.3	37	c.823	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445825	0.84101	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.89343	-2.5;-2.5;-2.5	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	M	0.64404	1.975	0.80722	D	1	D;D	0.69078	0.974;0.997	P;D	0.70227	0.901;0.968	D	0.93625	0.6951	10	0.87932	D	0	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	275;275	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	T	275;275;87	ENSP00000379326:A275T;ENSP00000280467:A275T;ENSP00000435053:A87T	ENSP00000280467:A275T	A	-	1	0	SLC5A12	26676657	1.000000	0.71417	0.974000	0.42286	0.600000	0.36913	5.952000	0.70282	2.890000	0.99128	0.650000	0.86243	GCC	SLC5A12	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000148942		0.438	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	196	0.51	1	C	NM_178498	Missense_Mutation	26720081	26720081	-1	no_errors	ENST00000396005	ensembl	human	known	69_37n	missense	161	12.90	24	SNP	0.999	T
STARD4	134429	genome.wustl.edu	37	5	110835685	110835685	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr5:110835685T>C	ENST00000296632.3	-	6	651	c.517A>G	c.(517-519)Att>Gtt	p.I173V	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	173	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TCTGTCTGAATATATCCTGTC	0.418																																						dbGAP											0													131.0	125.0	127.0					5																	110835685		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.517A>G	5.37:g.110835685T>C	ENSP00000296632:p.Ile173Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86TN9	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.I173V	ENST00000296632.3	37	c.517	CCDS4104.1	5	.	.	.	.	.	.	.	.	.	.	T	10.47	1.359800	0.24598	.	.	ENSG00000164211	ENST00000296632;ENST00000505803	T;T	0.78003	-1.14;-1.14	5.69	4.52	0.55395	Lipid-binding START (2);START-like domain (1);	0.133466	0.51477	D	0.000089	T	0.66839	0.2830	L	0.35723	1.085	0.80722	D	1	B	0.14805	0.011	B	0.17098	0.017	T	0.61128	-0.7125	10	0.20519	T	0.43	-15.4841	11.826	0.52267	0.0:0.0695:0.0:0.9305	.	173	Q96DR4	STAR4_HUMAN	V	173	ENSP00000296632:I173V;ENSP00000427478:I173V	ENSP00000296632:I173V	I	-	1	0	STARD4	110863584	1.000000	0.71417	0.997000	0.53966	0.843000	0.47879	4.546000	0.60705	2.176000	0.68965	0.533000	0.62120	ATT	STARD4	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	ENSG00000164211		0.418	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD4	HGNC	protein_coding	OTTHUMT00000250720.1	53	0.00	0	T	NM_139164		110835685	110835685	-1	no_errors	ENST00000296632	ensembl	human	known	69_37n	missense	89	29.92	38	SNP	1.000	C
STARD4	134429	genome.wustl.edu	37	5	110835685	110835685	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr5:110835685T>C	ENST00000296632.3	-	6	651	c.517A>G	c.(517-519)Att>Gtt	p.I173V	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	173	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TCTGTCTGAATATATCCTGTC	0.418																																						dbGAP											0													131.0	125.0	127.0					5																	110835685		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.517A>G	5.37:g.110835685T>C	ENSP00000296632:p.Ile173Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86TN9	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.I173V	ENST00000296632.3	37	c.517	CCDS4104.1	5	.	.	.	.	.	.	.	.	.	.	T	10.47	1.359800	0.24598	.	.	ENSG00000164211	ENST00000296632;ENST00000505803	T;T	0.78003	-1.14;-1.14	5.69	4.52	0.55395	Lipid-binding START (2);START-like domain (1);	0.133466	0.51477	D	0.000089	T	0.66839	0.2830	L	0.35723	1.085	0.80722	D	1	B	0.14805	0.011	B	0.17098	0.017	T	0.61128	-0.7125	10	0.20519	T	0.43	-15.4841	11.826	0.52267	0.0:0.0695:0.0:0.9305	.	173	Q96DR4	STAR4_HUMAN	V	173	ENSP00000296632:I173V;ENSP00000427478:I173V	ENSP00000296632:I173V	I	-	1	0	STARD4	110863584	1.000000	0.71417	0.997000	0.53966	0.843000	0.47879	4.546000	0.60705	2.176000	0.68965	0.533000	0.62120	ATT	STARD4	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	ENSG00000164211		0.418	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD4	HGNC	protein_coding	OTTHUMT00000250720.1	152	0.00	0	T	NM_139164		110835685	110835685	-1	no_errors	ENST00000296632	ensembl	human	known	69_37n	missense	89	29.92	38	SNP	1.000	C
TAOK2	9344	genome.wustl.edu	37	16	29998787	29998788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr16:29998787_29998788insG	ENST00000308893.4	+	16	4237_4238	c.3194_3195insG	c.(3193-3198)gcggggfs	p.AG1065fs	TAOK2_ENST00000416441.2_Frame_Shift_Ins_p.AG892fs|TAOK2_ENST00000543033.1_Frame_Shift_Ins_p.AG952fs|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1065					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTATGGCAGCGGGGGGCAGAT	0.688																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3200dupG	16.37:g.29998793_29998793dupG	ENSP00000310094:p.Ala1065fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Frame_Shift_Ins	INS	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.R1068fs	ENST00000308893.4	37	c.3194_3195	CCDS10663.1	16																																																																																			TAOK2	-	NULL	ENSG00000149930		0.688	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	39	0.00	0	-	NM_016151		29998787	29998788	+1	no_errors	ENST00000308893	ensembl	human	known	69_37n	frame_shift_ins	26	13.33	4	INS	1.000:0.997	G
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	45	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	35	26.53	13	SNP	0.994	A
TET3	200424	genome.wustl.edu	37	2	74328777	74328777	+	Frame_Shift_Del	DEL	C	C	-	rs569552456	byFrequency	TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr2:74328777delC	ENST00000409262.3	+	9	4457	c.4457delC	c.(4456-4458)gcgfs	p.A1486fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1486					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCAAGGGAGCGGTGAAGGAG	0.637																																						dbGAP											0													18.0	21.0	20.0					2																	74328777		1989	4155	6144	-	-	-	SO:0001589	frameshift_variant	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4457delC	2.37:g.74328777delC	ENSP00000386869:p.Ala1486fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Del	DEL	NULL	p.A1486fs	ENST00000409262.3	37	c.4457	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.637	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	52	0.00	0	C			74328777	74328777	+1	no_errors	ENST00000409262	ensembl	human	known	69_37n	frame_shift_del	23	40.00	16	DEL	0.000	-
TET3	200424	genome.wustl.edu	37	2	74328777	74328777	+	Frame_Shift_Del	DEL	C	C	-	rs569552456	byFrequency	TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	9fb162fe-879e-454a-a2ce-f1471ecaf3f7	g.chr2:74328777delC	ENST00000409262.3	+	9	4457	c.4457delC	c.(4456-4458)gcgfs	p.A1486fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1486					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCAAGGGAGCGGTGAAGGAG	0.637																																						dbGAP											0													18.0	21.0	20.0					2																	74328777		1989	4155	6144	-	-	-	SO:0001589	frameshift_variant	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4457delC	2.37:g.74328777delC	ENSP00000386869:p.Ala1486fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Del	DEL	NULL	p.A1486fs	ENST00000409262.3	37	c.4457	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.637	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	24	0.00	0	C			74328777	74328777	+1	no_errors	ENST00000409262	ensembl	human	known	69_37n	frame_shift_del	23	40.00	16	DEL	0.000	-
U2AF2	11338	genome.wustl.edu	37	19	56173905	56173906	+	Frame_Shift_Ins	INS	-	-	G	rs149491308		TCGA-BH-A0BJ-01A-11W-A071-09	TCGA-BH-A0BJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a774aaa7-e53e-4b05-8b5a-08e9949d5fb1	43287256-9ad4-437b-932d-a0e2aef9ae2b	g.chr19:56173905_56173906insG	ENST00000308924.4	+	6	564_565	c.524_525insG	c.(523-528)ctggggfs	p.LG175fs	CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Frame_Shift_Ins_p.LG175fs|U2AF2_ENST00000590551.1_Frame_Shift_Ins_p.LG11fs			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	175	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGATGCGCCTGGGGGGGCTGA	0.604																																						dbGAP											0									,	9,4255		0,9,2123					,	4.1	1.0			43	6,8248		0,6,4121	no	frameshift,frameshift	U2AF2	NM_007279.2,NM_001012478.1	,	0,15,6244	A1A1,A1R,RR		0.0727,0.2111,0.1198	,	,		15,12503				-	-	-	SO:0001589	frameshift_variant	0			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.531dupG	19.37:g.56173912_56173912dupG	ENSP00000307863:p.Leu175fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96HC5	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg	p.L178fs	ENST00000308924.4	37	c.524_525	CCDS12933.1	19																																																																																			U2AF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg	ENSG00000063244		0.604	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF2	HGNC	protein_coding	OTTHUMT00000453599.1	11	0.00	0	-	NM_007279		56173905	56173906	+1	no_errors	ENST00000308924	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	0.991:0.923	G
