#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ARID2	196528	genome.wustl.edu	37	12	46245859	46245860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr12:46245859_46245860insG	ENST00000334344.6	+	15	4125_4126	c.3953_3954insG	c.(3952-3957)cagtgcfs	p.C1319fs	ARID2_ENST00000444670.1_Frame_Shift_Ins_p.C929fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.C1170fs|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1319					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C1319fs*6(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAGACTAATCAGTGCTCACTAA	0.391			"""N, S, F"""		hepatocellular carcinoma																																	dbGAP		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3954dupG	12.37:g.46245860_46245860dupG	ENSP00000335044:p.Cys1319fs		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.C1319fs	ENST00000334344.6	37	c.3953_3954	CCDS31783.1	12																																																																																			ARID2	-	NULL	ENSG00000189079		0.391	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	72	0.00	0	-	XM_350875		46245859	46245860	+1	no_errors	ENST00000334344	ensembl	human	known	69_37n	frame_shift_ins	19	36.67	11	INS	1.000:1.000	G
ASPM	259266	genome.wustl.edu	37	1	197072768	197072769	+	In_Frame_Ins	INS	-	-	TAT			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr1:197072768_197072769insTAT	ENST00000367409.4	-	18	5868_5869	c.5612_5613insATA	c.(5611-5613)ttt>ttATAt	p.1871_1871F>LY	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1871					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTCTTCAAAAAATGTGTTCT	0.391																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5612_5613insATA	1.37:g.197072768_197072769insTAT	ENSP00000356379:p.Phe1871delinsLeuTyr		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	In_Frame_Ins	INS	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.F1871in_frame_insLY	ENST00000367409.4	37	c.5613_5612	CCDS1389.1	1																																																																																			ASPM	-	superfamily_ARM-type_fold	ENSG00000066279		0.391	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	145	0.00	0	-	NM_018136		197072768	197072769	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	in_frame_ins	37	13.95	6	INS	0.012:0.046	TAT
ASPM	259266	genome.wustl.edu	37	1	197072773	197072774	+	Frame_Shift_Ins	INS	-	-	ATTC			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr1:197072773_197072774insATTC	ENST00000367409.4	-	18	5863_5864	c.5607_5608insGAAT	c.(5605-5610)acacatfs	p.H1870fs	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1870					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCAAAAAATGTGTTCTTGTAT	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5607_5608insGAAT	1.37:g.197072773_197072774insATTC	ENSP00000356379:p.His1870fs		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Ins	INS	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.H1869fs	ENST00000367409.4	37	c.5608_5607	CCDS1389.1	1																																																																																			ASPM	-	superfamily_ARM-type_fold	ENSG00000066279		0.401	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	150	0.00	0	-	NM_018136		197072773	197072774	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	frame_shift_ins	39	11.36	5	INS	0.000:0.000	ATTC
ATP12A	479	genome.wustl.edu	37	13	25264568	25264568	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr13:25264568G>T	ENST00000381946.3	+	6	806	c.639G>T	c.(637-639)caG>caT	p.Q213H	ATP12A_ENST00000218548.6_Missense_Mutation_p.Q213H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	213					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.Q213H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GAGGAGACCAGATCCCTGCAG	0.577																																					Pancreas(156;1582 1935 18898 22665 26498)	dbGAP											1	Substitution - Missense(1)	breast(1)											95.0	88.0	91.0					13																	25264568		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.639G>T	13.37:g.25264568G>T	ENSP00000371372:p.Gln213His		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.Q213H	ENST00000381946.3	37	c.639	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216226	0.58452	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.90955	-2.76;-2.76	4.75	4.75	0.60458	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.755724	0.12204	N	0.490014	D	0.91253	0.7243	L	0.52759	1.655	0.28782	N	0.899763	P;P	0.42203	0.659;0.773	P;P	0.52267	0.694;0.58	D	0.86045	0.1522	10	0.87932	D	0	.	8.8031	0.34920	0.099:0.0:0.901:0.0	.	213;213	P54707-2;P54707	.;AT12A_HUMAN	H	213	ENSP00000218548:Q213H;ENSP00000371372:Q213H	ENSP00000218548:Q213H	Q	+	3	2	ATP12A	24162568	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.305000	0.33493	2.455000	0.83008	0.655000	0.94253	CAG	ATP12A	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000075673		0.577	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	75	0.00	0	G	NM_001676		25264568	25264568	+1	no_errors	ENST00000218548	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	1.000	T
BMX	660	genome.wustl.edu	37	X	15552336	15552337	+	Splice_Site	INS	-	-	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chrX:15552336_15552337insT	ENST00000357607.2	+	12	1209_1210	c.1021_1022insT	c.(1021-1023)gat>gTat	p.D341fs	BMX_ENST00000348343.6_Splice_Site_p.D341fs|BMX_ENST00000342014.6_Splice_Site_p.D341fs			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	341	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TGTTACTAGTGATAAAAAAGGA	0.302																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1020-1->T	X.37:g.15552336_15552337insT			A6NIH9|O60564|Q12871	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.D341fs	ENST00000357607.2	37	c.1021_1022	CCDS14168.1	X																																																																																			BMX	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000102010		0.302	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	194	0.00	0	-	NM_001721	Frame_Shift_Ins	15552336	15552337	+1	no_errors	ENST00000342014	ensembl	human	known	69_37n	frame_shift_ins	19	13.64	3	INS	1.000:0.999	T
BORA	79866	genome.wustl.edu	37	13	73319298	73319299	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr13:73319298_73319299insA	ENST00000390667.5	+	8	788_789	c.691_692insA	c.(691-693)gatfs	p.D231fs	BORA_ENST00000377815.3_Frame_Shift_Ins_p.D161fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	231	Ser-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										TTATTCAATAGATTTGTCTCCT	0.45																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.692dupA	13.37:g.73319299_73319299dupA	ENSP00000375082:p.Asp231fs		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Frame_Shift_Ins	INS	prints_Aurora_borealis_protien	p.D231fs	ENST00000390667.5	37	c.691_692	CCDS9446.1	13																																																																																			BORA	-	NULL	ENSG00000136122		0.450	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	85	0.00	0	-	NM_024808		73319298	73319299	+1	no_errors	ENST00000390667	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	1.000:1.000	A
C16orf62	57020	genome.wustl.edu	37	16	19656250	19656250	+	Missense_Mutation	SNP	G	G	C	rs182792252		TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr16:19656250G>C	ENST00000251143.5	+	23	1920	c.1908G>C	c.(1906-1908)ttG>ttC	p.L636F	C16orf62_ENST00000542263.1_Missense_Mutation_p.L658F|C16orf62_ENST00000448695.1_Missense_Mutation_p.L486F|C16orf62_ENST00000543152.1_Missense_Mutation_p.L385F|C16orf62_ENST00000438132.3_Missense_Mutation_p.L725F|C16orf62_ENST00000417362.2_Missense_Mutation_p.L569F			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	636						integral component of membrane (GO:0016021)		p.L636F(1)|p.L725F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTCATATTTGATTAATGGAT	0.318																																						dbGAP											2	Substitution - Missense(2)	breast(2)											96.0	101.0	99.0					16																	19656250		2196	4300	6496	-	-	-	SO:0001583	missense	0				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1908G>C	16.37:g.19656250G>C	ENSP00000251143:p.Leu636Phe		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	NULL	p.L725F	ENST00000251143.5	37	c.2175		16	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546217	0.65198	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.9	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	M	0.85945	2.785	0.80722	D	1	P;D	0.89917	0.518;1.0	B;D	0.85130	0.302;0.997	T	0.76948	-0.2770	9	.	.	.	-19.3839	10.5697	0.45194	0.083:0.1406:0.7764:0.0	.	658;636	F5H7K1;Q7Z3J2	.;CP062_HUMAN	F	725;658;636;569;486	ENSP00000400815:L725F;ENSP00000442468:L658F;ENSP00000251143:L636F;ENSP00000395973:L569F;ENSP00000398009:L486F	.	L	+	3	2	C16orf62	19563751	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.744000	0.47450	2.806000	0.96561	0.655000	0.94253	TTG	C16orf62	-	NULL	ENSG00000103544		0.318	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	HGNC	protein_coding		183	0.00	0	G	NM_020314		19656250	19656250	+1	no_errors	ENST00000438132	ensembl	human	known	69_37n	missense	125	16.11	24	SNP	0.999	C
CCDC178	374864	genome.wustl.edu	37	18	30803162	30803162	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr18:30803162G>C	ENST00000383096.3	-	18	2022	c.1840C>G	c.(1840-1842)Cag>Gag	p.Q614E	CCDC178_ENST00000403303.1_Missense_Mutation_p.Q614E|CCDC178_ENST00000402325.1_Missense_Mutation_p.Q614E|CCDC178_ENST00000406524.2_Missense_Mutation_p.Q614E|CCDC178_ENST00000583930.1_Missense_Mutation_p.Q614E|CCDC178_ENST00000579947.1_Missense_Mutation_p.Q614E|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Intron			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	614								p.Q614E(1)									AGATCTTTCTGATCAATTATA	0.323																																						dbGAP											1	Substitution - Missense(1)	breast(1)											73.0	69.0	70.0					18																	30803162		1798	4057	5855	-	-	-	SO:0001583	missense	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1840C>G	18.37:g.30803162G>C	ENSP00000372576:p.Gln614Glu		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.Q614E	ENST00000383096.3	37	c.1840	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	G	4.568	0.105527	0.08780	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000406524;ENST00000402325	T;T;T;T	0.17691	2.28;2.28;2.26;2.34	4.57	3.41	0.39046	.	.	.	.	.	T	0.11410	0.0278	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.18013	0.025;0.006;0.025;0.013	B;B;B;B	0.13407	0.009;0.009;0.009;0.009	T	0.28996	-1.0026	9	0.27082	T	0.32	-0.8172	9.5107	0.39076	0.0:0.0:0.1885:0.8115	.	614;614;614;614	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1	.;.;.;CR034_HUMAN	E	614	ENSP00000385591:Q614E;ENSP00000372576:Q614E;ENSP00000385867:Q614E;ENSP00000385234:Q614E	ENSP00000372576:Q614E	Q	-	1	0	C18orf34	29057160	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	1.233000	0.32648	0.853000	0.35312	-0.271000	0.10264	CAG	C18orf34	-	NULL	ENSG00000166960		0.323	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C18orf34	HGNC	protein_coding	OTTHUMT00000255373.2	265	0.00	0	G	NM_198995		30803162	30803162	-1	no_errors	ENST00000406524	ensembl	human	known	69_37n	missense	99	10.71	12	SNP	0.002	C
C3orf70	285382	genome.wustl.edu	37	3	184801097	184801097	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr3:184801097C>T	ENST00000335012.2	-	2	641	c.451G>A	c.(451-453)Gca>Aca	p.A151T		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	151								p.A151T(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GAATGTGGTGCCGGCTGCTTC	0.438																																						dbGAP											1	Substitution - Missense(1)	breast(1)											94.0	90.0	91.0					3																	184801097		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.451G>A	3.37:g.184801097C>T	ENSP00000334974:p.Ala151Thr		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.A151T	ENST00000335012.2	37	c.451	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	C	8.800	0.932570	0.18131	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.04	0.9	0.19278	.	0.702258	0.13679	N	0.370321	T	0.21921	0.0528	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22452	-1.0216	9	0.20046	T	0.44	.	7.7505	0.28894	0.0:0.3061:0.506:0.188	.	151	A6NLC5	CC070_HUMAN	T	151	.	ENSP00000334974:A151T	A	-	1	0	C3orf70	186283791	0.022000	0.18835	0.032000	0.17829	0.635000	0.38103	0.348000	0.20031	0.147000	0.19030	0.655000	0.94253	GCA	C3orf70	-	NULL	ENSG00000187068		0.438	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	144	0.00	0	C	NM_001025266		184801097	184801097	-1	no_errors	ENST00000335012	ensembl	human	known	69_37n	missense	45	13.21	7	SNP	0.001	T
CHD9	80205	genome.wustl.edu	37	16	53190160	53190161	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr16:53190160_53190161insTT	ENST00000398510.3	+	1	246_247	c.159_160insTT	c.(160-162)aacfs	p.N54fs	CHD9_ENST00000447540.1_Frame_Shift_Ins_p.N54fs|CHD9_ENST00000566029.1_Frame_Shift_Ins_p.N54fs|CHD9_ENST00000564845.1_Frame_Shift_Ins_p.N54fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	54					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TAGATTCACTGAACCATGTTCA	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		Exception_encountered	16.37:g.53190160_53190161insTT	ENSP00000381522:p.Asn54fs		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N53fs	ENST00000398510.3	37	c.159_160		16																																																																																			CHD9	-	NULL	ENSG00000177200		0.351	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	154	0.00	0	-	NM_025134		53190160	53190161	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	0.997:1.000	TT
CMYA5	202333	genome.wustl.edu	37	5	79025522	79025523	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr5:79025522_79025523insC	ENST00000446378.2	+	2	965_966	c.934_935insC	c.(934-936)gagfs	p.E312fs		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	312					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAAAGGATCAGAGTCCCTAACC	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	Exception_encountered	5.37:g.79025522_79025523insC	ENSP00000394770:p.Glu312fs		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E312fs	ENST00000446378.2	37	c.934_935	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.416	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	52	0.00	0	-	NM_153610		79025522	79025523	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.000:0.000	C
CNTNAP2	26047	genome.wustl.edu	37	7	147600781	147600782	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr7:147600781_147600782insA	ENST00000361727.3	+	14	2739_2740	c.2223_2224insA	c.(2224-2226)tacfs	p.Y742fs		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	742	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATCCCAAGTACTACTGTAACTG	0.554										HNSCC(39;0.1)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	Exception_encountered	7.37:g.147600781_147600782insA	ENSP00000354778:p.Tyr742fs		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Frame_Shift_Ins	INS	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Y741fs	ENST00000361727.3	37	c.2223_2224	CCDS5889.1	7																																																																																			CNTNAP2	-	NULL	ENSG00000174469		0.554	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	64	0.00	0	-			147600781	147600782	+1	no_errors	ENST00000361727	ensembl	human	known	69_37n	frame_shift_ins	7	36.36	4	INS	1.000:1.000	A
COL17A1	1308	genome.wustl.edu	37	10	105792444	105792444	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr10:105792444T>G	ENST00000353479.5	-	55	4716	c.4426A>C	c.(4426-4428)Aaa>Caa	p.K1476Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.K1394Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1476	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.K1476Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGTCTCCTTTTTCTCCCTTG	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											96.0	76.0	83.0					10																	105792444		2203	4300	6503	-	-	-	SO:0001583	missense	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.4426A>C	10.37:g.105792444T>G	ENSP00000340937:p.Lys1476Gln		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.K1476Q	ENST00000353479.5	37	c.4426	CCDS7554.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.978370|3.978370	0.74360|0.74360	.|.	.|.	ENSG00000065618|ENSG00000065618	ENST00000433822|ENST00000353479;ENST00000369733	.|D;D	.|0.93488	.|-3.23;-3.23	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|0.000000	0.49916|0.49916	D|D	0.000129|0.000129	D|D	0.93798|0.93798	0.8017|0.8017	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	.|D	.|0.60575	.|0.988	.|P	.|0.55749	.|0.783	D|D	0.92083|0.92083	0.5674|0.5674	6|10	.|0.23302	.|T	.|0.38	-7.9246|-7.9246	15.3933|15.3933	0.74767|0.74767	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1476	.|Q9UMD9	.|COHA1_HUMAN	N|Q	44|1476;1394	.|ENSP00000340937:K1476Q;ENSP00000358748:K1394Q	.|ENSP00000340937:K1476Q	K|K	-|-	3|1	2|0	COL17A1|COL17A1	105782434|105782434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.281000|6.281000	0.72632|0.72632	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAA|AAA	COL17A1	-	pfam_Collagen	ENSG00000065618		0.537	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	61	0.00	0	T	NM_130778, NM_000494		105792444	105792444	-1	no_errors	ENST00000353479	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	G
CUL3	8452	genome.wustl.edu	37	2	225368387	225368388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr2:225368387_225368388insT	ENST00000264414.4	-	9	1696_1697	c.1358_1359insA	c.(1357-1359)aacfs	p.N453fs	CUL3_ENST00000344951.4_Frame_Shift_Ins_p.N387fs|CUL3_ENST00000409777.1_Frame_Shift_Ins_p.N429fs|CUL3_ENST00000409096.1_Frame_Shift_Ins_p.N429fs	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	453					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TAGATATCATGTTTTTTTCAGA	0.317																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1359dupA	2.37:g.225368394_225368394dupT	ENSP00000264414:p.Asn453fs		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Frame_Shift_Ins	INS	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.N453fs	ENST00000264414.4	37	c.1359_1358	CCDS2462.1	2																																																																																			CUL3	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000036257		0.317	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	306	0.00	0	-			225368387	225368388	-1	no_errors	ENST00000264414	ensembl	human	known	69_37n	frame_shift_ins	116	26.11	41	INS	0.993:1.000	T
DIEXF	27042	genome.wustl.edu	37	1	210012200	210012201	+	Intron	INS	-	-	G			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr1:210012200_210012201insG	ENST00000491415.2	+	7	1119					NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)						multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GTTTCACCTCAAGATCCTGTTC	0.54																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1063-53->G	1.37:g.210012200_210012201insG			O75992|Q4VY00|Q63HL9	Frame_Shift_Ins	INS	pfam_Digest_organ_expansion_fac-prd	p.R17fs	ENST00000491415.2	37	c.51_52	CCDS1493.1	1																																																																																			DIEXF	-	NULL	ENSG00000117597		0.540	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	52	0.00	0	-	NM_014388		210012200	210012201	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000457820	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.000:0.000	G
DNAH8	1769	genome.wustl.edu	37	6	38834385	38834385	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr6:38834385C>T	ENST00000359357.3	+	44	6120	c.5866C>T	c.(5866-5868)Cgc>Tgc	p.R1956C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2173C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1956C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1956	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1956C(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATGCTGGGCGCCAGGAACT	0.328																																						dbGAP											2	Substitution - Missense(2)	breast(2)											63.0	64.0	63.0					6																	38834385		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5866C>T	6.37:g.38834385C>T	ENSP00000352312:p.Arg1956Cys		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R1956C	ENST00000359357.3	37	c.5866		6	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572626	0.86542	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.15256	2.44;2.44;2.44	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69591	-0.5104	10	0.87932	D	0	.	15.3179	0.74095	0.1398:0.8602:0.0:0.0	.	1956	Q96JB1	DYH8_HUMAN	C	2161;2161;1956;1956	ENSP00000333363:R2161C;ENSP00000352312:R1956C;ENSP00000402294:R1956C	ENSP00000333363:R2161C	R	+	1	0	DNAH8	38942363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.657000	0.61490	2.941000	0.99782	0.655000	0.94253	CGC	DNAH8	-	smart_AAA+_ATPase	ENSG00000124721		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	128	0.00	0	C	NM_001206927		38834385	38834385	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	35	42.62	26	SNP	1.000	T
DOCK10	55619	genome.wustl.edu	37	2	225702539	225702539	+	Silent	SNP	G	G	C	rs373071946		TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr2:225702539G>C	ENST00000258390.7	-	25	2857	c.2790C>G	c.(2788-2790)acC>acG	p.T930T	DOCK10_ENST00000409592.3_Silent_p.T924T	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	930					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCACAATGTCGGTCAGAACCC	0.453																																						dbGAP											0													71.0	70.0	71.0					2																	225702539		1928	4142	6070	-	-	-	SO:0001819	synonymous_variant	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2790C>G	2.37:g.225702539G>C			B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T930	ENST00000258390.7	37	c.2790	CCDS46528.1	2																																																																																			DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.453	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	89	0.00	0	G			225702539	225702539	-1	no_errors	ENST00000258390	ensembl	human	known	69_37n	silent	18	21.74	5	SNP	0.033	C
DSPP	1834	genome.wustl.edu	37	4	88536082	88536082	+	Silent	SNP	C	C	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr4:88536082C>T	ENST00000282478.7	+	4	2301	c.2268C>T	c.(2266-2268)agC>agT	p.S756S	DSPP_ENST00000399271.1_Silent_p.S756S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	756	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.S756S(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagtagcgatagcagtg	0.527																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											71.0	82.0	78.0					4																	88536082		1654	2971	4625	-	-	-	SO:0001819	synonymous_variant	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2268C>T	4.37:g.88536082C>T			A8MUI0|O95815	Silent	SNP	NULL	p.S756	ENST00000282478.7	37	c.2268	CCDS43248.1	4																																																																																			DSPP	-	NULL	ENSG00000152591		0.527	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	221	0.00	0	C	NM_014208		88536082	88536082	+1	no_errors	ENST00000282478	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	0.583	T
EHHADH	1962	genome.wustl.edu	37	3	184910162	184910162	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr3:184910162A>G	ENST00000231887.3	-	7	2099	c.2024T>C	c.(2023-2025)gTt>gCt	p.V675A	EHHADH_ENST00000456310.1_Missense_Mutation_p.V579A|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	675					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.V675A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TTTCTCTAGAACTGTGGGCAA	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											85.0	89.0	88.0					3																	184910162		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.2024T>C	3.37:g.184910162A>G	ENSP00000231887:p.Val675Ala		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.V675A	ENST00000231887.3	37	c.2024	CCDS33901.1	3	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010193	0.75046	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	D;D	0.90133	-2.62;-2.62	5.91	5.91	0.95273	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.121928	0.53938	D	0.000041	D	0.91583	0.7341	M	0.65975	2.015	0.80722	D	1	P	0.40050	0.7	P	0.44447	0.45	D	0.92016	0.5622	10	0.62326	D	0.03	-24.4221	16.3483	0.83171	1.0:0.0:0.0:0.0	.	675	Q08426	ECHP_HUMAN	A	675;579	ENSP00000231887:V675A;ENSP00000387746:V579A	ENSP00000231887:V675A	V	-	2	0	EHHADH	186392856	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	8.868000	0.92320	2.254000	0.74563	0.533000	0.62120	GTT	EHHADH	-	pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	ENSG00000113790		0.478	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHHADH	HGNC	protein_coding	OTTHUMT00000345326.1	129	0.00	0	A			184910162	184910162	-1	no_errors	ENST00000231887	ensembl	human	known	69_37n	missense	19	45.71	16	SNP	0.960	G
EIF4G3	8672	genome.wustl.edu	37	1	21267868	21267869	+	Intron	INS	-	-	A			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr1:21267868_21267869insA	ENST00000264211.8	-	8	1690				EIF4G3_ENST00000356916.3_3'UTR|EIF4G3_ENST00000602326.1_Intron|EIF4G3_ENST00000374937.3_Intron|EIF4G3_ENST00000400422.1_Intron|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000544689.1_Frame_Shift_Ins_p.K3fs|EIF4G3_ENST00000536266.1_Intron|EIF4G3_ENST00000374927.4_3'UTR|EIF4G3_ENST00000374933.3_5'UTR	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3						cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GACTAGGAATTTCAGCATTCAT	0.356																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1495+114->T	1.37:g.21267868_21267869insA			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Ins	INS	NULL	p.*631fs	ENST00000264211.8	37	c.1894_1893	CCDS214.1	1																																																																																			EIF4G3	-	NULL	ENSG00000075151		0.356	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	49	0.00	0	-	NM_003760		21267868	21267869	-1	no_errors	ENST00000356916	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.998:0.998	A
EMILIN2	84034	genome.wustl.edu	37	18	2891304	2891304	+	Silent	SNP	G	G	A			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr18:2891304G>A	ENST00000254528.3	+	4	1338	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	393					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.Q393Q(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTTCAGCCCAGGCAAATTGCT	0.488																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											45.0	49.0	47.0					18																	2891304		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1179G>A	18.37:g.2891304G>A			B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.Q393	ENST00000254528.3	37	c.1179	CCDS11828.1	18																																																																																			EMILIN2	-	NULL	ENSG00000132205		0.488	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	53	0.00	0	G	NM_032048		2891304	2891304	+1	no_errors	ENST00000254528	ensembl	human	known	69_37n	silent	23	45.24	19	SNP	0.000	A
FNIP1	96459	genome.wustl.edu	37	5	131014737	131014737	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr5:131014737T>C	ENST00000510461.1	-	12	1429	c.1334A>G	c.(1333-1335)aAt>aGt	p.N445S	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.N445S|FNIP1_ENST00000307954.8_Missense_Mutation_p.N400S|FNIP1_ENST00000307968.7_Missense_Mutation_p.N417S	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	445					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.N445S(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTTGGAAGCATTTTCCATTAG	0.353																																						dbGAP											1	Substitution - Missense(1)	breast(1)											48.0	46.0	47.0					5																	131014737		2203	4300	6503	-	-	-	SO:0001583	missense	0			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1334A>G	5.37:g.131014737T>C	ENSP00000421985:p.Asn445Ser		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	NULL	p.N445S	ENST00000510461.1	37	c.1334	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504317	0.64410	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.45	5.45	0.79879	.	.	.	.	.	T	0.12732	0.0309	N	0.03608	-0.345	0.41007	D	0.984976	P;B;P;B	0.36837	0.571;0.038;0.571;0.02	B;B;B;B	0.30855	0.121;0.036;0.121;0.037	T	0.19257	-1.0311	9	0.09338	T	0.73	-12.4161	15.7952	0.78404	0.0:0.0:0.0:1.0	.	445;445;417;445	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	S	417;400;205;445;445	ENSP00000309266:N417S;ENSP00000310453:N400S;ENSP00000421985:N445S;ENSP00000425619:N445S	ENSP00000310453:N400S	N	-	2	0	FNIP1	131042636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.185000	0.69588	0.533000	0.62120	AAT	FNIP1	-	NULL	ENSG00000217128		0.353	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1	92	0.00	0	T	NM_133372		131014737	131014737	-1	no_errors	ENST00000510461	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	1.000	C
FXR1	8087	genome.wustl.edu	37	3	180669241	180669241	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr3:180669241C>A	ENST00000357559.4	+	8	1170	c.786C>A	c.(784-786)ttC>ttA	p.F262L	FXR1_ENST00000468861.1_Missense_Mutation_p.F177L|FXR1_ENST00000491062.1_Missense_Mutation_p.F213L|FXR1_ENST00000305586.7_Missense_Mutation_p.F177L|FXR1_ENST00000445140.2_Missense_Mutation_p.F262L|FXR1_ENST00000480918.1_Missense_Mutation_p.F249L	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	262					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F262L(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTGGAACATTCAGAATCTACG	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											117.0	110.0	112.0					3																	180669241		2203	4300	6503	-	-	-	SO:0001583	missense	0			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.786C>A	3.37:g.180669241C>A	ENSP00000350170:p.Phe262Leu		A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1	p.F262L	ENST00000357559.4	37	c.786	CCDS3238.1	3	.	.	.	.	.	.	.	.	.	.	c	18.16	3.561956	0.65538	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	5.35	0.356	0.16074	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	M	0.91038	3.17	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.993	D;D;D;D;D;D	0.91635	0.995;0.997;0.997;0.994;0.999;0.974	T	0.60286	-0.7293	10	0.87932	D	0	-26.1375	8.9549	0.35812	0.0:0.4435:0.0:0.5565	.	249;213;177;177;262;262	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	L	262;177;213;177;262;249	ENSP00000350170:F262L;ENSP00000307633:F177L;ENSP00000420643:F213L;ENSP00000420515:F177L;ENSP00000388828:F262L;ENSP00000418097:F249L	ENSP00000307633:F177L	F	+	3	2	FXR1	182151935	1.000000	0.71417	0.999000	0.59377	0.722000	0.41435	1.652000	0.37313	0.035000	0.15519	-0.404000	0.06349	TTC	FXR1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000114416		0.413	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	140	0.00	0	C			180669241	180669241	+1	no_errors	ENST00000357559	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	1.000	A
GALNTL6	442117	genome.wustl.edu	37	4	172735562	172735562	+	Splice_Site	SNP	G	G	A			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr4:172735562G>A	ENST00000506823.1	+	2	488		c.e2-1		GALNTL6_ENST00000511251.1_Splice_Site	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6						protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTGTTCTGCAGATGGCCAACT	0.438																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.-169-1G>A	4.37:g.172735562G>A			Q2L4S6	Splice_Site	SNP	-	e1-1	ENST00000506823.1	37	c.1-1	CCDS34104.1	4																																																																																			GALNTL6	-	-	ENSG00000174473		0.438	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	41	0.00	0	G	NM_001034845	Intron	172735562	172735562	+1	no_errors	ENST00000506823	ensembl	human	known	69_37n	splice_site	33	19.51	8	SNP	1.000	A
GPR112	139378	genome.wustl.edu	37	X	135427084	135427085	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chrX:135427084_135427085insTT	ENST00000394143.1	+	6	1510_1511	c.1219_1220insTT	c.(1219-1221)attfs	p.I407fs	GPR112_ENST00000412101.1_Frame_Shift_Ins_p.I202fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.I202fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.I344fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.I407fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	407					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATTTTCAACTATTGAGTCAACA	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1220_1221dupTT	X.37:g.135427085_135427086dupTT	ENSP00000377699:p.Ile407fs		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Ins	INS	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E408fs	ENST00000394143.1	37	c.1219_1220	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.396	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	64	0.00	0	-			135427084	135427085	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.000:0.000	TT
HS6ST1	9394	genome.wustl.edu	37	2	129075877	129075877	+	Missense_Mutation	SNP	G	G	T	rs200979099		TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr2:129075877G>T	ENST00000259241.6	-	1	274	c.261C>A	c.(259-261)gaC>gaA	p.D87E	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	87					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AGACGATCACGTCGTCGCCCT	0.657																																						dbGAP											0													10.0	16.0	14.0					2																	129075877		1658	4004	5662	-	-	-	SO:0001583	missense	0			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.261C>A	2.37:g.129075877G>T	ENSP00000259241:p.Asp87Glu		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase	p.D87E	ENST00000259241.6	37	c.261	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	g	21.7	4.181914	0.78677	.	.	ENSG00000136720	ENST00000259241	T	0.74947	-0.89	3.69	2.78	0.32641	.	0.000000	0.85682	U	0.000000	D	0.84924	0.5580	M	0.88031	2.925	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.84908	0.0846	9	.	.	.	.	6.5213	0.22277	0.2434:0.0:0.7566:0.0	.	87	O60243	H6ST1_HUMAN	E	87	ENSP00000259241:D87E	.	D	-	3	2	HS6ST1	128792347	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.938000	0.40203	1.600000	0.50102	0.313000	0.20887	GAC	HS6ST1	-	pfam_Sulfotransferase	ENSG00000136720		0.657	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	8	0.00	0	G	NM_004807		129075877	129075877	-1	no_errors	ENST00000259241	ensembl	human	known	69_37n	missense	3	50.00	3	SNP	1.000	T
ICK	22858	genome.wustl.edu	37	6	52878680	52878680	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr6:52878680G>A	ENST00000350082.5	-	9	1278	c.932C>T	c.(931-933)gCa>gTa	p.A311V	ICK_ENST00000356971.3_Missense_Mutation_p.A311V	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	311					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.A311V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					AGGTGGGCCTGCCTTTTCCAG	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											147.0	121.0	130.0					6																	52878680		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.932C>T	6.37:g.52878680G>A	ENSP00000263043:p.Ala311Val		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A311V	ENST00000350082.5	37	c.932	CCDS4949.1	6	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169131	0.38315	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.72942	-0.7;-0.7	6.06	4.04	0.47022	Protein kinase-like domain (1);	0.904045	0.09583	N	0.782530	T	0.26195	0.0639	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.13124	-1.0521	10	0.31617	T	0.26	1.3597	4.5469	0.12085	0.1119:0.0:0.4879:0.4001	.	311	Q9UPZ9	ICK_HUMAN	V	311	ENSP00000263043:A311V;ENSP00000349458:A311V	ENSP00000263043:A311V	A	-	2	0	ICK	52986639	0.990000	0.36364	0.988000	0.46212	0.981000	0.71138	1.610000	0.36869	1.550000	0.49438	0.655000	0.94253	GCA	ICK	-	superfamily_Kinase-like_dom	ENSG00000112144		0.527	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	HGNC	protein_coding	OTTHUMT00000040952.1	250	0.00	0	G	NM_016513		52878680	52878680	-1	no_errors	ENST00000350082	ensembl	human	known	69_37n	missense	88	21.43	24	SNP	0.105	A
KIAA1109	84162	genome.wustl.edu	37	4	123260542	123260543	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr4:123260542_123260543insTC	ENST00000264501.4	+	72	12704_12705	c.12331_12332insTC	c.(12331-12333)gctfs	p.A4111fs	KIAA1109_ENST00000388738.3_Frame_Shift_Ins_p.A4111fs			Q2LD37	K1109_HUMAN	KIAA1109	4111	Ser-rich.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAGACTTCTGCTAGCAAAACT	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	Exception_encountered	4.37:g.123260542_123260543insTC	ENSP00000264501:p.Ala4111fs		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Ins	INS	pfam_Fragile_site-assoc_C	p.A4111fs	ENST00000264501.4	37	c.12331_12332	CCDS43267.1	4																																																																																			KIAA1109	-	NULL	ENSG00000138688		0.347	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	106	0.00	0	-	NM_020797		123260542	123260543	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	frame_shift_ins	11	21.43	3	INS	0.000:0.001	TC
LONRF2	164832	genome.wustl.edu	37	2	100910844	100910844	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr2:100910844G>T	ENST00000393437.3	-	9	2243	c.1604C>A	c.(1603-1605)aCc>aAc	p.T535N	LONRF2_ENST00000409647.1_Missense_Mutation_p.T292N	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	535	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.T535N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GACGTCTCTGGTCAGACTGCA	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											117.0	117.0	117.0					2																	100910844		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1604C>A	2.37:g.100910844G>T	ENSP00000377086:p.Thr535Asn		B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.T535N	ENST00000393437.3	37	c.1604	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	G	4.898	0.166886	0.09339	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.85013	-1.75;-1.93	4.07	4.07	0.47477	.	0.106321	0.64402	D	0.000010	T	0.63034	0.2477	N	0.02973	-0.45	0.34809	D	0.737499	B	0.23650	0.089	B	0.27887	0.084	T	0.63857	-0.6542	10	0.02654	T	1	-20.0769	10.444	0.44483	0.0:0.0:0.6532:0.3468	.	535	Q1L5Z9	LONF2_HUMAN	N	535;292	ENSP00000377086:T535N;ENSP00000386823:T292N	ENSP00000377086:T535N	T	-	2	0	LONRF2	100277276	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.812000	0.55628	1.960000	0.56953	0.650000	0.86243	ACC	LONRF2	-	NULL	ENSG00000170500		0.527	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	96	0.00	0	G	NM_198461		100910844	100910844	-1	no_errors	ENST00000393437	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151927054	151927054	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr7:151927054C>T	ENST00000262189.6	-	18	3148	c.2930G>A	c.(2929-2931)tGt>tAt	p.C977Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.C977Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	977					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACACTGAGAACAGGCAAGTAA	0.343																																						dbGAP											0													55.0	46.0	49.0					7																	151927054		1978	3906	5884	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2930G>A	7.37:g.151927054C>T	ENSP00000262189:p.Cys977Tyr		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.C977Y	ENST00000262189.6	37	c.2930	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284357	0.59867	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99947	-8.64;-8.64	4.67	4.67	0.58626	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.45126	U	0.000386	D	0.99935	0.9971	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.94936	0.8087	10	0.87932	D	0	.	17.9348	0.89009	0.0:1.0:0.0:0.0	.	977;38	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	Y	977	ENSP00000262189:C977Y;ENSP00000347325:C977Y	ENSP00000262189:C977Y	C	-	2	0	MLL3	151557987	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.772000	0.85439	2.303000	0.77524	0.460000	0.39030	TGT	MLL3	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger	ENSG00000055609		0.343	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	317	0.00	0	C			151927054	151927054	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	69	13.75	11	SNP	1.000	T
RNF123	63891	genome.wustl.edu	37	3	49726070	49726070	+	5'Flank	SNP	G	G	A	rs587776366|rs62262686		TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr3:49726070G>A	ENST00000327697.6	+	0	0				MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_5'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.P19S|MST1_ENST00000545762.1_Missense_Mutation_p.P5S|RNF123_ENST00000432042.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AGCAGGAGTGGGAGCCACCCC	0.612																																						dbGAP											0													25.0	25.0	25.0					3																	49726070		2201	4296	6497	-	-	-	SO:0001631	upstream_gene_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49726070G>A	Exception_encountered		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P19S	ENST00000327697.6	37	c.55	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	G	9.725	1.160641	0.21454	.	.	ENSG00000173531	ENST00000449682;ENST00000545762	D;T	0.86769	-2.17;0.86	3.75	-0.229	0.13094	.	0.413025	0.17820	N	0.160900	D	0.84215	0.5423	L	0.54323	1.7	0.22266	N	0.99924	D;P	0.58268	0.982;0.911	P;P	0.52554	0.702;0.555	T	0.73688	-0.3904	10	0.33940	T	0.23	.	3.5806	0.07950	0.3392:0.1931:0.4677:0.0	rs62262686	5;19	B7Z538;G3XAK1	.;.	S	19;5	ENSP00000414287:P19S;ENSP00000437535:P5S	ENSP00000411117:P19S	P	-	1	0	MST1	49701074	0.838000	0.29461	0.907000	0.35723	0.425000	0.31504	1.045000	0.30341	-0.051000	0.13334	-0.258000	0.10820	CCA	MST1	-	NULL	ENSG00000173531		0.612	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346475.2	35	0.00	0	G	NM_022064		49726070	49726070	-1	no_errors	ENST00000449682	ensembl	human	known	69_37n	missense	13	18.75	3	SNP	0.908	A
MYCT1	80177	genome.wustl.edu	37	6	153043015	153043015	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr6:153043015C>A	ENST00000367245.5	+	2	343	c.335C>A	c.(334-336)tCt>tAt	p.S112Y	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	112						nucleus (GO:0005634)		p.S112Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGCAGGAGATCTAGGTCTTCT	0.522																																						dbGAP											1	Substitution - Missense(1)	breast(1)											148.0	136.0	140.0					6																	153043015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.335C>A	6.37:g.153043015C>A	ENSP00000356214:p.Ser112Tyr		Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	NULL	p.S112Y	ENST00000367245.5	37	c.335	CCDS5239.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.12|14.12	2.439581|2.439581	0.43326|0.43326	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000532295|ENST00000367245	.|T	.|0.33654	.|1.4	5.77|5.77	4.9|4.9	0.64082|0.64082	.|.	.|0.484807	.|0.25017	.|N	.|0.033785	T|T	0.19805|0.19805	0.0476|0.0476	L|L	0.60455|0.60455	1.87|1.87	0.52501|0.52501	D|D	0.999959|0.999959	.|P	.|0.38440	.|0.631	.|B	.|0.33521	.|0.165	T|T	0.05402|0.05402	-1.0887|-1.0887	5|10	.|0.52906	.|T	.|0.07	-1.5289|-1.5289	11.6148|11.6148	0.51083|0.51083	0.0:0.8577:0.0:0.1423|0.0:0.8577:0.0:0.1423	.|.	.|112	.|Q8N699	.|MYCT1_HUMAN	I|Y	93|112	.|ENSP00000356214:S112Y	.|ENSP00000356214:S112Y	L|S	+|+	1|2	2|0	MYCT1|MYCT1	153084708|153084708	0.078000|0.078000	0.21339|0.21339	0.007000|0.007000	0.13788|0.13788	0.964000|0.964000	0.63967|0.63967	2.872000|2.872000	0.48467|0.48467	1.432000|1.432000	0.47375|0.47375	0.573000|0.573000	0.79308|0.79308	CTA|TCT	MYCT1	-	NULL	ENSG00000120279		0.522	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCT1	HGNC	protein_coding	OTTHUMT00000042750.2	124	0.00	0	C	NM_025107		153043015	153043015	+1	no_errors	ENST00000367245	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	0.083	A
NBEA	26960	genome.wustl.edu	37	13	35644134	35644135	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr13:35644134_35644135delTG	ENST00000400445.3	+	9	1863_1864	c.1329_1330delTG	c.(1327-1332)attgccfs	p.A444fs	NBEA_ENST00000540320.1_Frame_Shift_Del_p.A444fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.A444fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.A444fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	444					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAAGTAGCATTGCCTTTACATA	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1329_1330delTG	13.37:g.35644134_35644135delTG	ENSP00000383295:p.Ala444fs		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Del	DEL	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.A444fs	ENST00000400445.3	37	c.1329_1330	CCDS45026.1	13																																																																																			NBEA	-	NULL	ENSG00000172915		0.376	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		142	0.00	0	TG	NM_015678		35644134	35644135	+1	no_errors	ENST00000310336	ensembl	human	known	69_37n	frame_shift_del	10	33.33	5	DEL	0.510:1.000	-
PADI4	23569	genome.wustl.edu	37	1	17682605	17682605	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr1:17682605C>A	ENST00000375448.4	+	12	1464	c.1438C>A	c.(1438-1440)Cca>Aca	p.P480T	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	480					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAGCTTTGTGCCAGCACCCGA	0.607																																						dbGAP											0													51.0	50.0	51.0					1																	17682605		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1438C>A	1.37:g.17682605C>A	ENSP00000364597:p.Pro480Thr		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.P480T	ENST00000375448.4	37	c.1438	CCDS180.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235913	0.79800	.	.	ENSG00000159339	ENST00000375448	T	0.39997	1.05	4.96	4.96	0.65561	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75895	0.3912	H	0.96269	3.795	0.48395	D	0.999643	D	0.89917	1.0	D	0.97110	1.0	D	0.84778	0.0771	10	0.87932	D	0	-15.1795	16.7904	0.85588	0.0:1.0:0.0:0.0	.	480	Q9UM07	PADI4_HUMAN	T	480	ENSP00000364597:P480T	ENSP00000364597:P480T	P	+	1	0	PADI4	17555192	1.000000	0.71417	0.407000	0.26434	0.107000	0.19398	7.084000	0.76866	2.287000	0.76781	0.655000	0.94253	CCA	PADI4	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000159339		0.607	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	HGNC	protein_coding	OTTHUMT00000006799.1	65	0.00	0	C	NM_012387		17682605	17682605	+1	no_errors	ENST00000375448	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	0.999	A
PKD2L1	9033	genome.wustl.edu	37	10	102049824	102049824	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr10:102049824G>C	ENST00000318222.3	-	14	2580	c.2198C>G	c.(2197-2199)tCa>tGa	p.S733*	PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.S658*|PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.S733*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	733	Required for protein homotrimerization.				cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.S733*(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TTTCAGCTTTGAGCCTACAGC	0.557																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											101.0	92.0	95.0					10																	102049824		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2198C>G	10.37:g.102049824G>C	ENSP00000325296:p.Ser733*		O75972|Q5W039|Q9UP35|Q9UPA2	Nonsense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.S733*	ENST00000318222.3	37	c.2198	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.739600	0.96873	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	.	.	.	5.49	3.59	0.41128	.	0.713668	0.13299	N	0.398356	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-0.5733	6.0084	0.19559	0.1617:0.298:0.5404:0.0	.	.	.	.	X	658;733;733;731	.	ENSP00000325296:S733X	S	-	2	0	PKD2L1	102039814	0.021000	0.18746	0.428000	0.26697	0.052000	0.14988	0.448000	0.21726	0.658000	0.30925	0.305000	0.20034	TCA	PKD2L1	-	NULL	ENSG00000107593		0.557	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	54	0.00	0	G	NM_016112		102049824	102049824	-1	no_errors	ENST00000318222	ensembl	human	known	69_37n	nonsense	21	32.26	10	SNP	0.391	C
POTEJ	653781	genome.wustl.edu	37	2	131390121	131390121	+	Missense_Mutation	SNP	G	G	C	rs202134345		TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr2:131390121G>C	ENST00000409602.1	+	9	1242	c.1190G>C	c.(1189-1191)aGt>aCt	p.S397T		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	397					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						GAAAACCTGAGTAATGGTGTC	0.368																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.1190G>C	2.37:g.131390121G>C	ENSP00000387176:p.Ser397Thr			Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.S397T	ENST00000409602.1	37	c.1190	CCDS59432.1	2	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.281453	0.00020	.	.	ENSG00000222038	ENST00000409602	T	0.13420	2.59	0.427	-0.854	0.10705	.	.	.	.	.	T	0.02649	0.0080	N	0.01168	-0.975	0.09310	N	1	.	.	.	.	.	.	T	0.30995	-0.9959	6	0.02654	T	1	.	.	.	.	.	.	.	.	T	397	ENSP00000387176:S397T	ENSP00000387176:S397T	S	+	2	0	POTEJ	131106591	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.945000	0.01537	-1.807000	0.01236	-1.041000	0.02371	AGT	POTEJ	-	NULL	ENSG00000222038		0.368	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEJ	HGNC	protein_coding	OTTHUMT00000333665.1	28	0.00	0	G	XM_929706		131390121	131390121	+1	no_errors	ENST00000409602	ensembl	human	novel	69_37n	missense	7	30.00	3	SNP	0.000	C
RHBDD1	84236	genome.wustl.edu	37	2	227731981	227731981	+	Silent	SNP	G	G	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr2:227731981G>T	ENST00000341329.3	+	3	755	c.513G>T	c.(511-513)ccG>ccT	p.P171P	RHBDD1_ENST00000392062.2_Silent_p.P171P	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	171					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.P171P(3)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTCCTGTACCGAACAGATTTG	0.398																																						dbGAP											3	Substitution - coding silent(3)	lung(2)|breast(1)											252.0	241.0	245.0					2																	227731981		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.513G>T	2.37:g.227731981G>T			Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Silent	SNP	pfam_Peptidase_S54_rhomboid_dom	p.P171	ENST00000341329.3	37	c.513	CCDS2464.1	2																																																																																			RHBDD1	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000144468		0.398	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD1	HGNC	protein_coding	OTTHUMT00000256885.2	349	0.00	0	G			227731981	227731981	+1	no_errors	ENST00000341329	ensembl	human	known	69_37n	silent	139	16.27	27	SNP	0.979	T
RIPK1	8737	genome.wustl.edu	37	6	3077011	3077012	+	5'UTR	INS	-	-	G	rs375497021|rs202096237|rs368197023	byFrequency	TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr6:3077011_3077012insG	ENST00000259808.4	+	0	252_253				RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000541791.1_5'Flank|RIPK1_ENST00000380409.2_5'Flank			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACAGCTCTGCCGGGGGGGGAAA	0.391																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.-46->G	6.37:g.3077019_3077019dupG			A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	RNA	INS	-	NULL	ENST00000259808.4	37	NULL	CCDS4482.1	6																																																																																			RIPK1	-	-	ENSG00000137275		0.391	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	33	0.00	0	-	NM_003804		3077011	3077012	+1	no_errors	ENST00000490396	ensembl	human	known	69_37n	rna	30	26.83	11	INS	0.000:0.000	G
RPE65	6121	genome.wustl.edu	37	1	68895560	68895561	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr1:68895560_68895561insT	ENST00000262340.5	-	14	1553_1554	c.1500_1501insA	c.(1498-1503)gcttatfs	p.Y501fs		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	501					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATCAGGAGATAAGCAGGCTTTT	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1500_1501insA	1.37:g.68895560_68895561insT	ENSP00000262340:p.Tyr501fs		A8K1L0|Q5T9U3	Frame_Shift_Ins	INS	pfam_Carotenoid_Oase	p.Y500fs	ENST00000262340.5	37	c.1501_1500	CCDS643.1	1																																																																																			RPE65	-	pfam_Carotenoid_Oase	ENSG00000116745		0.436	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	61	0.00	0	-	NM_000329		68895560	68895561	-1	no_errors	ENST00000262340	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	1.000:0.658	T
SELL	6402	genome.wustl.edu	37	1	169679648	169679648	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr1:169679648C>T	ENST00000236147.4	-	2	213	c.53G>A	c.(52-54)tGg>tAg	p.W18*	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	5					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.W5*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CTGACATTTCCATGGAAATAT	0.353																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											57.0	53.0	55.0					1																	169679648		1824	4074	5898	-	-	-	SO:0001587	stop_gained	0			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.53G>A	1.37:g.169679648C>T	ENSP00000236147:p.Trp18*		B2R6Q8|P15023|Q9UJ43	Nonsense_Mutation	SNP	pirsf_L-selectin,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EGF-like,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.W18*	ENST00000236147.4	37	c.53	CCDS53427.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.086978	0.94100	.	.	ENSG00000188404	ENST00000236147	.	.	.	4.75	4.75	0.60458	.	0.581867	0.15668	N	0.250540	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8047	13.4316	0.61059	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000236147:W18X	W	-	2	0	SELL	167946272	0.848000	0.29623	0.377000	0.26055	0.046000	0.14306	1.936000	0.40183	2.630000	0.89119	0.555000	0.69702	TGG	SELL	-	pirsf_L-selectin	ENSG00000188404		0.353	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1	150	0.00	0	C	NM_000655		169679648	169679648	-1	no_errors	ENST00000236147	ensembl	human	known	69_37n	nonsense	43	10.42	5	SNP	0.622	T
SLITRK6	84189	genome.wustl.edu	37	13	86369964	86369965	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr13:86369964_86369965insT	ENST00000400286.2	-	2	1277_1278	c.679_680insA	c.(679-681)ttgfs	p.L227fs		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	227	LRRCT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTTAACTGCAATAAGTCACAA	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.679_680insA	13.37:g.86369964_86369965insT	ENSP00000383143:p.Leu227fs		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L227fs	ENST00000400286.2	37	c.680_679	CCDS41903.1	13																																																																																			SLITRK6	-	smart_Cys-rich_flank_reg_C	ENSG00000184564		0.396	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	86	0.00	0	-	NM_032229		86369964	86369965	-1	no_errors	ENST00000400286	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.096:0.000	T
TP53	7157	genome.wustl.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACTCGGATAAGATGCTGAGG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)											97.0	87.0	90.0					17																	7578268		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L194R	ENST00000269305.4	37	c.581	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	144	0.00	0	A	NM_000546		7578268	7578268	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	59	45.37	49	SNP	0.996	C
TTN	7273	genome.wustl.edu	37	2	179593823	179593823	+	Silent	SNP	G	G	A	rs572285982		TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr2:179593823G>A	ENST00000591111.1	-	63	18215	c.17991C>T	c.(17989-17991)acC>acT	p.T5997T	TTN_ENST00000589042.1_Silent_p.T6314T|TTN_ENST00000342992.6_Silent_p.T5070T|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12789	Ig-like 41.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T5070T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTGCCACGGTACTCTGAA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		21621	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	breast(1)											57.0	57.0	57.0					2																	179593823		1824	4079	5903	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17991C>T	2.37:g.179593823G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T5070	ENST00000591111.1	37	c.15210		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	161	0.00	0	G	NM_133378		179593823	179593823	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	31	13.89	5	SNP	0.002	A
TTN	7273	genome.wustl.edu	37	2	179650411	179650411	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr2:179650411C>T	ENST00000591111.1	-	15	2653	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	TTN_ENST00000589042.1_Missense_Mutation_p.R810H|TTN_ENST00000342992.6_Missense_Mutation_p.R810H|TTN_ENST00000360870.5_Missense_Mutation_p.R810H|TTN_ENST00000342175.6_Missense_Mutation_p.R764H|TTN_ENST00000359218.5_Missense_Mutation_p.R764H|TTN_ENST00000460472.2_Missense_Mutation_p.R764H			Q8WZ42	TITIN_HUMAN	titin	33641					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R764H(3)|p.R810H(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTAGCTGTGCGGGGGCGTTT	0.383																																						dbGAP											6	Substitution - Missense(6)	breast(6)											185.0	179.0	181.0					2																	179650411		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2429G>A	2.37:g.179650411C>T	ENSP00000465570:p.Arg810His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R810H	ENST00000591111.1	37	c.2429		2	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482182	0.44147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66638	-0.22;0.03;0.03;0.02;0.15	5.51	5.51	0.81932	Ribonuclease H-like (1);	.	.	.	.	T	0.57417	0.2052	L	0.27053	0.805	0.25058	N	0.991082	B;B;B;B;P	0.51057	0.032;0.032;0.032;0.032;0.941	B;B;B;B;B	0.42030	0.005;0.005;0.005;0.008;0.373	T	0.58364	-0.7649	9	0.87932	D	0	.	15.2885	0.73849	0.0:0.8604:0.1396:0.0	.	764;764;764;810;810	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	810;764;764;764;764;810	ENSP00000343764:R810H;ENSP00000434586:R764H;ENSP00000340554:R764H;ENSP00000352154:R764H;ENSP00000354117:R810H	ENSP00000340554:R764H	R	-	2	0	TTN	179358656	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.554000	0.36266	2.738000	0.93877	0.655000	0.94253	CGC	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	269	0.00	0	C	NM_133378		179650411	179650411	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	T
VWA3A	146177	genome.wustl.edu	37	16	22126692	22126692	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr16:22126692delA	ENST00000389398.5	+	9	810	c.714delA	c.(712-714)gtafs	p.V238fs	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	238						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGCTCTGGGTAAAGACGCTGC	0.443																																						dbGAP											0													35.0	36.0	36.0					16																	22126692		1900	4123	6023	-	-	-	SO:0001589	frameshift_variant	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.714delA	16.37:g.22126692delA	ENSP00000374049:p.Val238fs		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Frame_Shift_Del	DEL	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.K239fs	ENST00000389398.5	37	c.714	CCDS45441.1	16																																																																																			VWA3A	-	NULL	ENSG00000175267		0.443	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	47	0.00	0	A			22126692	22126692	+1	no_errors	ENST00000389398	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	0.052	-
ZBTB38	253461	genome.wustl.edu	37	3	141164487	141164488	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr3:141164487_141164488insA	ENST00000514251.1	+	4	3536_3537	c.3257_3258insA	c.(3256-3261)agaatcfs	p.I1087fs	ZBTB38_ENST00000321464.5_Frame_Shift_Ins_p.I1088fs|ZBTB38_ENST00000441582.2_Frame_Shift_Ins_p.I1087fs					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATCCATGAAAGAATCCATACTG	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3259dupA	3.37:g.141164489_141164489dupA	ENSP00000426387:p.Ile1087fs			Frame_Shift_Ins	INS	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I1088fs	ENST00000514251.1	37	c.3260_3261	CCDS43157.1	3																																																																																			ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177311		0.446	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	65	0.00	0	-			141164487	141164488	+1	no_errors	ENST00000321464	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	0.434:0.417	A
ZNF200	7752	genome.wustl.edu	37	16	3274374	3274374	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr16:3274374C>G	ENST00000431561.3	-	5	1318	c.706G>C	c.(706-708)Gac>Cac	p.D236H	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Missense_Mutation_p.D235H|ZNF200_ENST00000396870.4_Missense_Mutation_p.D235H|ZNF200_ENST00000414144.2_Missense_Mutation_p.D236H|ZNF200_ENST00000396871.4_Missense_Mutation_p.D235H|ZNF200_ENST00000396868.3_Missense_Mutation_p.D235H	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D236H(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ATACTGATGTCTACATATTTT	0.378																																						dbGAP											1	Substitution - Missense(1)	breast(1)											136.0	126.0	129.0					16																	3274374		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.706G>C	16.37:g.3274374C>G	ENSP00000395723:p.Asp236His		D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D236H	ENST00000431561.3	37	c.706	CCDS10497.1	16	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568349	0.28003	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.07688	3.17;3.18;3.22	5.17	5.17	0.71159	.	0.000000	0.43747	D	0.000526	T	0.15652	0.0377	L	0.27053	0.805	0.26106	N	0.980759	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.70935	0.936;0.936;0.971	T	0.02983	-1.1086	10	0.66056	D	0.02	-10.3544	11.1326	0.48356	0.184:0.816:0.0:0.0	.	235;236;235	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	H	236;235;235;235;236	ENSP00000380077:D235H;ENSP00000380080:D235H;ENSP00000395723:D236H	ENSP00000380077:D235H	D	-	1	0	ZNF200	3214375	0.969000	0.33509	0.958000	0.39756	0.309000	0.27889	1.323000	0.33701	2.691000	0.91804	0.455000	0.32223	GAC	ZNF200	-	NULL	ENSG00000010539		0.378	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF200	HGNC	protein_coding	OTTHUMT00000437545.1	172	0.00	0	C			3274374	3274374	-1	no_errors	ENST00000414144	ensembl	human	known	69_37n	missense	98	16.95	20	SNP	0.985	G
ZNF28	7576	genome.wustl.edu	37	19	53304396	53304396	+	Silent	SNP	C	C	T			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr19:53304396C>T	ENST00000457749.2	-	4	821	c.702G>A	c.(700-702)caG>caA	p.Q234Q	ZNF28_ENST00000438150.2_Silent_p.Q181Q|ZNF28_ENST00000360272.4_Silent_p.Q181Q|ZNF28_ENST00000414252.2_Silent_p.Q181Q	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q181Q(2)|p.Q234Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGTGGGTTATCTGATGTTTTT	0.348																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											117.0	108.0	111.0					19																	53304396		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.702G>A	19.37:g.53304396C>T			A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q234	ENST00000457749.2	37	c.702	CCDS33093.2	19																																																																																			ZNF28	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198538		0.348	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	HGNC	protein_coding	OTTHUMT00000336038.2	209	0.00	0	C	NM_006969		53304396	53304396	-1	no_errors	ENST00000457749	ensembl	human	known	69_37n	silent	130	18.24	29	SNP	0.054	T
ZNF583	147949	genome.wustl.edu	37	19	56934755	56934756	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr19:56934755_56934756insAA	ENST00000333201.9	+	5	938_939	c.728_729insAA	c.(727-732)gttgaafs	p.E244fs	ZNF583_ENST00000291598.7_Frame_Shift_Ins_p.E244fs|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TATGCATGTGTTGAATGTGGGA	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	Exception_encountered	19.37:g.56934755_56934756insAA	ENSP00000388502:p.Glu244fs		O14850|Q2NKK3	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E244fs	ENST00000333201.9	37	c.728_729	CCDS12943.1	19																																																																																			ZNF583	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198440		0.396	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1	59	0.00	0	-	NM_152478		56934755	56934756	+1	no_errors	ENST00000291598	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	0.000:0.000	AA
ZNF737	100129842	genome.wustl.edu	37	19	20727402	20727403	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AR-A0U0-01A-11D-A10G-09	TCGA-AR-A0U0-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	79e2c073-7727-4c34-ac28-5d7895144743	4300938a-51ef-4124-b665-cf8cbebeeb0e	g.chr19:20727402_20727403insGG	ENST00000427401.4	-	4	1700_1701	c.1606_1607insCC	c.(1606-1608)ctafs	p.L536fs		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCACATTTATAGTTTCTCTCCA	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1606_1607insCC	19.37:g.20727402_20727403insGG	ENSP00000395733:p.Leu536fs		C9JHM3	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L536fs	ENST00000427401.4	37	c.1607_1606	CCDS54238.1	19																																																																																			ZNF737	-	pfscan_Znf_C2H2	ENSG00000237440		0.376	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	73	0.00	0	-	NM_145289		20727402	20727403	-1	no_errors	ENST00000427401	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	0.161:0.990	GG
