#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_CAF	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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
KIAA2022	340533	genome.wustl.edu	37	X	73960473	73960473	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chrX:73960473C>T	ENST00000055682.6	-	3	4530	c.3919G>A	c.(3919-3921)Gat>Aat	p.D1307N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1307					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGTCATCATCCAGAAGGCTG	0.522																																							0											0													123.0	113.0	117.0					X																	73960473		2203	4300	6503	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3919G>A	X.37:g.73960473C>T	ENSP00000055682:p.Asp1307Asn		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.D1307N	ENST00000055682.6	37	c.3919	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797904	0.50208	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.28069	1.63;1.63	5.55	5.55	0.83447	.	0.234665	0.43747	D	0.000521	T	0.30008	0.0751	N	0.19112	0.55	0.45366	D	0.998355	P	0.37370	0.592	B	0.42959	0.403	T	0.12091	-1.0561	10	0.62326	D	0.03	-6.2997	18.525	0.90968	0.0:1.0:0.0:0.0	.	1307	Q5QGS0	K2022_HUMAN	N	1307	ENSP00000362567:D1307N;ENSP00000055682:D1307N	ENSP00000055682:D1307N	D	-	1	0	KIAA2022	73877198	0.997000	0.39634	0.986000	0.45419	0.874000	0.50279	3.567000	0.53813	2.317000	0.78254	0.544000	0.68410	GAT	0	NULL		0.522	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	87	183	0	0.00	0	0	C	NM_001008537	0	0		73960473	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	66	122	17.5	21.29	14	33	SNP	1	T
KIAA2022	340533	genome.wustl.edu	37	X	73961545	73961545	+	Silent	SNP	C	C	A			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chrX:73961545C>A	ENST00000055682.6	-	3	3458	c.2847G>T	c.(2845-2847)ctG>ctT	p.L949L		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	949					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGAGTCATACAGGACCTTGT	0.443																																							0											0													175.0	150.0	158.0					X																	73961545		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2847G>T	X.37:g.73961545C>A			A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.L949	ENST00000055682.6	37	c.2847	CCDS35337.1	X																																																																																			0	NULL		0.443	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	130	281	0	0.00	0	0	C	NM_001008537	0	0		73961545	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	silent	73	187	33.03	28.90	36	76	SNP	0.658	A
DCAF12L2	340578	genome.wustl.edu	37	X	125299320	125299320	+	Missense_Mutation	SNP	C	C	A			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chrX:125299320C>A	ENST00000360028.2	-	1	614	c.588G>T	c.(586-588)tgG>tgT	p.W196C	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.W196C			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	196										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGCGAAGATCCAGTCCTTGT	0.652																																							0											0													43.0	47.0	46.0					X																	125299320		2203	4299	6502	SO:0001583	missense	0			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.588G>T	X.37:g.125299320C>A	ENSP00000353128:p.Trp196Cys		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W196C	ENST00000360028.2	37	c.588	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117867	0.56505	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.60548	0.18;0.18	3.87	3.87	0.44632	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.31290	N	0.007916	T	0.76154	0.3948	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.80355	-0.1417	10	0.66056	D	0.02	.	12.7615	0.57367	0.0:1.0:0.0:0.0	.	196	Q5VW00	DC122_HUMAN	C	196	ENSP00000441489:W196C;ENSP00000353128:W196C	ENSP00000353128:W196C	W	-	3	0	DCAF12L2	125127001	1.000000	0.71417	0.978000	0.43139	0.674000	0.39518	4.975000	0.63777	2.167000	0.68274	0.544000	0.68410	TGG	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.652	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	protein_coding	OTTHUMT00000058181.1	134	10	0	0.00	0	0	C	NM_001013628	0	0		125299320	-1	no_errors	ENST00000360028	ensembl	human	known	74_37	missense	87	4	38.3	44.44	54	4	SNP	1	A
H6PD	9563	genome.wustl.edu	37	1	9324428	9324428	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr1:9324428C>T	ENST00000377403.2	+	5	2178	c.1876C>T	c.(1876-1878)Ctc>Ttc	p.L626F	H6PD_ENST00000602477.1_Missense_Mutation_p.L637F	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	626	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CTGCGTCCCACTCTCAGACCC	0.667																																							0											0													22.0	24.0	24.0					1																	9324428		2201	4296	6497	SO:0001583	missense	0			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1876C>T	1.37:g.9324428C>T	ENSP00000366620:p.Leu626Phe		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.L626F	ENST00000377403.2	37	c.1876	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	C	9.124	1.009778	0.19277	.	.	ENSG00000049239	ENST00000377403	T	0.44083	0.93	5.16	5.16	0.70880	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.259719	0.39274	N	0.001410	T	0.36413	0.0966	L	0.41124	1.26	0.27420	N	0.954326	B	0.22541	0.071	B	0.29663	0.105	T	0.32079	-0.9920	10	0.51188	T	0.08	-29.7041	11.1621	0.48522	0.0:0.9165:0.0:0.0835	.	626	O95479	G6PE_HUMAN	F	626	ENSP00000366620:L626F	ENSP00000366620:L626F	L	+	1	0	H6PD	9247015	0.930000	0.31532	0.088000	0.20740	0.340000	0.28889	3.577000	0.53885	2.420000	0.82092	0.561000	0.74099	CTC	0	tigrfam_6-phosphogluconolactonase_DevB		0.667	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	protein_coding	OTTHUMT00000004928.2	21	77	0	0.00	0	0	C	NM_004285	0	0		9324428	1	no_errors	ENST00000377403	ensembl	human	known	74_37	missense	16	50	30.43	19.35	7	12	SNP	0.389	T
CSMD2	114784	genome.wustl.edu	37	1	34164385	34164385	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr1:34164385C>T	ENST00000373380.1	-	3	732	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1298Q			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1258	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCCAGGTCCGGCGCTCTCC	0.602																																							0											0													69.0	69.0	69.0					1																	34164385		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.512G>A	1.37:g.34164385C>T	ENSP00000362478:p.Arg171Gln		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R1298Q	ENST00000373380.1	37	c.3893		1	.	.	.	.	.	.	.	.	.	.	C	37	6.247612	0.97412	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.64438	-0.1;-0.1	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	M	0.63208	1.945	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.997;0.986;0.975	T	0.72357	-0.4318	10	0.31617	T	0.26	.	19.3155	0.94211	0.0:1.0:0.0:0.0	.	171;1258;1298	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	Q	1298;171	ENSP00000362479:R1298Q;ENSP00000362478:R171Q	ENSP00000241312:R1258Q	R	-	2	0	CSMD2	33936972	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.776000	0.85560	2.879000	0.98667	0.650000	0.86243	CGG	0	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.602	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000030635.4	37	76	0	0.00	0	0	C	NM_052896	0	0		34164385	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	35	75	32.69	23.47	17	23	SNP	1	T
TTN	7273	genome.wustl.edu	37	2	179417841	179417841	+	Missense_Mutation	SNP	T	T	G			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr2:179417841T>G	ENST00000591111.1	-	285	85087	c.84863A>C	c.(84862-84864)aAa>aCa	p.K28288T	TTN_ENST00000359218.5_Missense_Mutation_p.K20989T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K20864T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K21056T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K27361T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K29929T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28288					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)			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)			GTCAAGCACTTTAACACTCAC	0.428																																							0											0													99.0	96.0	97.0					2																	179417841		1909	4126	6035	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.84863A>C	2.37:g.179417841T>G	ENSP00000465570:p.Lys28288Thr		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_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_dom,pfscan_Ig-like_dom	p.K27361T	ENST00000591111.1	37	c.82082		2	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092789	0.56075	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.39	5.39	0.77823	Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75191	0.3816	L	0.37507	1.11	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.87578	0.998;0.994;0.994;0.998	T	0.78160	-0.2312	9	0.87932	D	0	.	15.708	0.77602	0.0:0.0:0.0:1.0	.	20864;20989;21056;28288	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	27361;20864;21056;20989;20861	ENSP00000343764:K27361T;ENSP00000434586:K20864T;ENSP00000340554:K21056T;ENSP00000352154:K20989T	ENSP00000340554:K21056T	K	-	2	0	TTN	179126087	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	5.154000	0.64894	2.163000	0.67991	0.533000	0.62120	AAA	0	pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	50	249	0	0.00	0	0	T	NM_133378	0	0		179417841	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	47	203	20.34	27.56	12	78	SNP	1	G
TTN	7273	genome.wustl.edu	37	2	179605611	179605611	+	Missense_Mutation	SNP	T	T	C			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr2:179605611T>C	ENST00000591111.1	-	46	11622	c.11398A>G	c.(11398-11400)Att>Gtt	p.I3800V	TTN_ENST00000359218.5_Missense_Mutation_p.I3879V|TTN_ENST00000460472.2_Missense_Mutation_p.I3754V|TTN_ENST00000342175.6_Missense_Mutation_p.I3946V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I4117V|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33478					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)			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)			TGCTCCAAAATGGATTGCAAT	0.423																																							0											0													128.0	124.0	125.0					2																	179605611		1905	4116	6021	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.11398A>G	2.37:g.179605611T>C	ENSP00000465570:p.Ile3800Val		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_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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_dom,pfscan_Ig-like_dom	p.I3946V	ENST00000591111.1	37	c.11836		2	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216854	0.39201	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59772	0.26;0.24;0.24	5.52	3.11	0.35812	.	.	.	.	.	T	0.29976	0.0750	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.22208	-1.0223	9	0.87932	D	0	.	6.0613	0.19839	0.0:0.0866:0.164:0.7494	.	3754;3879;3946	D3DPF9;E7EQE6;E7ET18	.;.;.	V	3754;3946;3879;3754	ENSP00000434586:I3754V;ENSP00000340554:I3946V;ENSP00000352154:I3879V	ENSP00000340554:I3946V	I	-	1	0	TTN	179313856	0.032000	0.19561	0.123000	0.21794	0.639000	0.38242	-0.095000	0.11077	0.369000	0.24510	0.533000	0.62120	ATT	0	superfamily_RNaseH-like_dom		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	28	173	0	0.57	0	1	T	NM_133378	0	0		179605611	-1	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	22	151	24.14	12.21	7	21	SNP	0.067	C
TTN	7273	genome.wustl.edu	37	2	179605613	179605613	+	Missense_Mutation	SNP	G	G	A			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr2:179605613G>A	ENST00000591111.1	-	46	11620	c.11396C>T	c.(11395-11397)tCc>tTc	p.S3799F	TTN_ENST00000359218.5_Missense_Mutation_p.S3878F|TTN_ENST00000460472.2_Missense_Mutation_p.S3753F|TTN_ENST00000342175.6_Missense_Mutation_p.S3945F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S4116F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33477			S -> Y (in CMD1G). {ECO:0000269|PubMed:11846417}.		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)			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)			CTCCAAAATGGATTGCAATTC	0.428																																							0											0			GRCh37	CM022259	ttntvn2b	M							127.0	124.0	125.0					2																	179605613		1907	4115	6022	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.11396C>T	2.37:g.179605613G>A	ENSP00000465570:p.Ser3799Phe		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_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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_dom,pfscan_Ig-like_dom	p.S3945F	ENST00000591111.1	37	c.11834		2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588977	0.46110	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.62788	0.12;0.01;0.0	5.52	5.52	0.82312	.	.	.	.	.	T	0.50480	0.1618	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29805	0.087;0.087;0.257	B;B;B	0.26310	0.068;0.068;0.068	T	0.52578	-0.8557	9	0.87932	D	0	.	16.3752	0.83383	0.0:0.0:1.0:0.0	.	3753;3878;3945	D3DPF9;E7EQE6;E7ET18	.;.;.	F	3753;3945;3878;3753	ENSP00000434586:S3753F;ENSP00000340554:S3945F;ENSP00000352154:S3878F	ENSP00000340554:S3945F	S	-	2	0	TTN	179313858	0.815000	0.29118	0.321000	0.25320	0.654000	0.38779	1.567000	0.36407	2.581000	0.87130	0.655000	0.94253	TCC	0	superfamily_RNaseH-like_dom		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	29	173	0	0.00	0	0	G	NM_133378	0	0		179605613	-1	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	21	148	25	12.87	7	22	SNP	0.318	A
KIF9	64147	genome.wustl.edu	37	3	47286394	47286394	+	Silent	SNP	A	A	G			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr3:47286394A>G	ENST00000265529.3	-	16	2081	c.1401T>C	c.(1399-1401)gaT>gaC	p.D467D	KIF9_ENST00000352910.4_Silent_p.D374D|KIF9_ENST00000444589.2_Silent_p.D467D|KIF9_ENST00000452770.2_Silent_p.D467D|KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000335044.2_Silent_p.D467D			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	467					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTAGGTGGCCATCAACATCCA	0.527																																					Colon(44;962 1147 15977 24541)		0											0													73.0	68.0	70.0					3																	47286394		2203	4300	6503	SO:0001819	synonymous_variant	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1401T>C	3.37:g.47286394A>G			Q86Z28|Q9H8A4	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D467	ENST00000265529.3	37	c.1401	CCDS2752.1	3																																																																																			0	NULL		0.527	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	protein_coding	OTTHUMT00000257475.2	66	156	0	0.00	0	0	A		0	0		47286394	-1	no_errors	ENST00000265529	ensembl	human	known	74_37	silent	38	123	26.92	29.31	14	51	SNP	0.057	G
SH3TC1	54436	genome.wustl.edu	37	4	8229317	8229317	+	Silent	SNP	G	G	A			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr4:8229317G>A	ENST00000245105.3	+	12	1963	c.1896G>A	c.(1894-1896)ctG>ctA	p.L632L	SH3TC1_ENST00000539824.1_Silent_p.L556L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	632										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCTGCTCCTGGGGACGCCTG	0.677																																					NSCLC(145;2298 2623 35616 37297)		0											0													31.0	31.0	31.0					4																	8229317		2017	3996	6013	SO:0001819	synonymous_variant	0			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1896G>A	4.37:g.8229317G>A			Q4W5G5	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.L632	ENST00000245105.3	37	c.1896	CCDS3399.1	4																																																																																			0	smart_TPR_repeat		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	protein_coding	OTTHUMT00000206991.2	56	52	0	0.00	0	0	G	NM_018986	0	0		8229317	1	no_errors	ENST00000245105	ensembl	human	known	74_37	silent	48	59	21.31	27.16	13	22	SNP	1	A
FGG	2266	genome.wustl.edu	37	4	155531219	155531219	+	Splice_Site	SNP	C	C	G			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr4:155531219C>G	ENST00000336098.3	-	5	570	c.532G>C	c.(532-534)Gat>Cat	p.D178H	FGG_ENST00000405164.1_Splice_Site_p.V178L|FGG_ENST00000404648.3_Splice_Site_p.D178H|FGG_ENST00000407946.1_Splice_Site_p.V178L	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	178	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CATCAGTTACCTTTCCCAGTG	0.393																																							0											0													184.0	166.0	172.0					4																	155531219		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.532+1G>C	4.37:g.155531219C>G			A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.D178H	ENST00000336098.3	37	c.532	CCDS3788.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.06|12.06	1.825462|1.825462	0.32237|0.32237	.|.	.|.	ENSG00000171557|ENSG00000171557	ENST00000404648;ENST00000336098;ENST00000443553;ENST00000393846|ENST00000405164;ENST00000407946	D;D;T;T|T;T	0.98192|0.56444	-4.78;-4.78;1.6;1.6|0.47;0.46	5.48|5.48	5.48|5.48	0.80851|0.80851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64114|0.64114	0.2569|0.2569	M|M	0.90977|0.90977	3.165|3.165	0.37507|0.37507	D|D	0.916998|0.916998	D;D|B;B	0.89917|0.22800	1.0;1.0|0.075;0.043	D;D|B;B	0.97110|0.21917	1.0;1.0|0.037;0.037	T|T	0.66787|0.66787	-0.5835|-0.5835	10|9	0.54805|0.23302	T|T	0.06|0.38	.|.	19.7024|19.7024	0.96060|0.96060	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	178;178|178;178	P02679;P02679-2|C9JC84;C9JEU5	FIBG_HUMAN;.|.;.	H|L	178;178;75;75|178	ENSP00000384860:D178H;ENSP00000336829:D178H;ENSP00000407562:D75H;ENSP00000377429:D75H|ENSP00000384101:V178L;ENSP00000384552:V178L	ENSP00000336829:D178H|ENSP00000384101:V178L	D|V	-|-	1|1	0|0	FGG|FGG	155750669|155750669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.572000|0.572000	0.35998|0.35998	7.124000|7.124000	0.77185|0.77185	2.724000|2.724000	0.93272|0.93272	0.655000|0.655000	0.94253|0.94253	GAT|GTA	0	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.393	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	protein_coding	OTTHUMT00000317581.1	87	280	0	0.36	0	1	C	NM_021870	0	0	Missense_Mutation	155531219	-1	no_errors	ENST00000336098	ensembl	human	known	74_37	missense	89	220	23.28	23.08	27	66	SNP	1	G
DHX16	8449	genome.wustl.edu	37	6	30633356	30633356	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr6:30633356C>T	ENST00000376442.3	-	5	1016	c.821G>A	c.(820-822)cGg>cAg	p.R274Q		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	274					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R274Q(1)		kidney(2)|ovary(2)	4						CCGCACTCGCCGCTTATATTT	0.627																																							0											1	Substitution - Missense(1)	endometrium(1)											65.0	66.0	66.0					6																	30633356		1511	2709	4220	SO:0001583	missense	0			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.821G>A	6.37:g.30633356C>T	ENSP00000365625:p.Arg274Gln		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R274Q	ENST00000376442.3	37	c.821	CCDS4685.1	6	.	.	.	.	.	.	.	.	.	.	c	15.81	2.944569	0.53079	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.54675	0.56;0.56	5.12	2.88	0.33553	.	0.349077	0.29830	N	0.011095	T	0.20292	0.0488	L	0.31476	0.935	0.42214	D	0.991828	B;B	0.28880	0.222;0.226	B;B	0.19391	0.019;0.025	T	0.07366	-1.0776	10	0.40728	T	0.16	.	9.5581	0.39351	0.0:0.7592:0.0:0.2408	.	214;274	B4DZ28;O60231	.;DHX16_HUMAN	Q	274;214	ENSP00000365625:R274Q;ENSP00000399101:R214Q	ENSP00000365625:R274Q	R	-	2	0	DHX16	30741335	0.897000	0.30589	0.998000	0.56505	0.922000	0.55478	2.491000	0.45303	1.123000	0.41961	0.586000	0.80456	CGG	0	NULL		0.627	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	protein_coding	OTTHUMT00000076076.2	46	102	0	0.00	0	0	C	NM_003587	0	0		30633356	-1	no_errors	ENST00000376442	ensembl	human	known	74_37	missense	44	63	24.14	24.71	14	21	SNP	0.691	T
PRDM1	639	genome.wustl.edu	37	6	106552868	106552868	+	Missense_Mutation	SNP	A	A	G			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr6:106552868A>G	ENST00000369096.4	+	5	1067	c.833A>G	c.(832-834)aAg>aGg	p.K278R	PRDM1_ENST00000369089.3_Missense_Mutation_p.K144R|PRDM1_ENST00000369091.2_Missense_Mutation_p.K242R	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	278					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACATCAGAAAAGGACCTCGAT	0.498			"""D, N, Mis, F, S"""		DLBCL																																		0		Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	0													195.0	213.0	207.0					6																	106552868		2203	4300	6503	SO:0001583	missense	0				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.833A>G	6.37:g.106552868A>G	ENSP00000358092:p.Lys278Arg		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.K278R	ENST00000369096.4	37	c.833	CCDS5054.2	6	.	.	.	.	.	.	.	.	.	.	A	8.129	0.782573	0.16189	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;T;T	0.58060	3.24;3.23;0.36;3.24	5.73	3.38	0.38709	.	0.260679	0.43579	N	0.000550	T	0.17109	0.0411	N	0.22421	0.69	0.38628	D	0.951319	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.05886	-1.0858	10	0.17832	T	0.49	-24.1333	9.7115	0.40247	0.8606:0.0:0.1394:0.0	.	144;278	Q86WM7;O75626	.;PRDM1_HUMAN	R	242;278;242;157;144	ENSP00000358087:K242R;ENSP00000358092:K278R;ENSP00000399772:K157R;ENSP00000358085:K144R	ENSP00000358085:K144R	K	+	2	0	PRDM1	106659561	1.000000	0.71417	0.995000	0.50966	0.394000	0.30568	3.553000	0.53713	1.005000	0.39183	0.533000	0.62120	AAG	0	pirsf_Znf_PRDM1		0.498	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	protein_coding	OTTHUMT00000041661.3	54	277	0	0.00	0	0	A		0	0		106552868	1	no_errors	ENST00000369096	ensembl	human	known	74_37	missense	58	235	27.5	22.70	22	69	SNP	0.999	G
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	304	134	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	231	72	28.92	31.78	94	34	SNP	1	A
TNPO3	23534	genome.wustl.edu	37	7	128610261	128610261	+	Missense_Mutation	SNP	G	G	C			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr7:128610261G>C	ENST00000265388.5	-	20	2682	c.2539C>G	c.(2539-2541)Ccc>Gcc	p.P847A	TNPO3_ENST00000471234.1_Missense_Mutation_p.P783A|RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000393245.1_Missense_Mutation_p.P881A|TNPO3_ENST00000482320.1_Missense_Mutation_p.P781A|TNPO3_ENST00000471166.1_Missense_Mutation_p.P881A			Q9Y5L0	TNPO3_HUMAN	transportin 3	847					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGGGTATAGGGGGGGAGGCAA	0.488																																					Pancreas(147;583 2585 39696 52331)		0											0													159.0	159.0	159.0					7																	128610261		2203	4300	6503	SO:0001583	missense	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2539C>G	7.37:g.128610261G>C	ENSP00000265388:p.Pro847Ala		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.P881A	ENST00000265388.5	37	c.2641	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	G	9.572	1.121199	0.20877	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.79	5.79	0.91817	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.30973	0.302;0.068;0.04;0.011	B;B;B;B	0.24006	0.05;0.018;0.041;0.018	T	0.42172	-0.9467	10	0.09590	T	0.72	.	17.5092	0.87755	0.0:0.0:1.0:0.0	.	783;881;847;847	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	A	881;847;781;783;881	ENSP00000376936:P881A;ENSP00000265388:P847A;ENSP00000420089:P781A;ENSP00000418646:P783A;ENSP00000418267:P881A	ENSP00000265388:P847A	P	-	1	0	TNPO3	128397497	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	6.527000	0.73803	2.737000	0.93849	0.650000	0.86243	CCC	0	NULL		0.488	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	protein_coding	OTTHUMT00000350929.1	58	120	0	0.00	0	0	G	NM_012470	0	0		128610261	-1	no_errors	ENST00000393245	ensembl	human	known	74_37	missense	34	88	19.05	27.87	8	34	SNP	1	C
GOT1L1	137362	genome.wustl.edu	37	8	37795248	37795248	+	Missense_Mutation	SNP	A	A	G			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr8:37795248A>G	ENST00000307599.4	-	3	416	c.317T>C	c.(316-318)gTt>gCt	p.V106A	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	106					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ACTGTCACCAACAGTGTGTAC	0.507																																							0											0													61.0	62.0	62.0					8																	37795248		2021	4171	6192	SO:0001583	missense	0			BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.317T>C	8.37:g.37795248A>G	ENSP00000303077:p.Val106Ala		A8MWL4	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans	p.V106A	ENST00000307599.4	37	c.317	CCDS47839.1	8	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990801	0.54041	.	.	ENSG00000169154	ENST00000307599;ENST00000524298	D;T	0.90324	-2.65;2.0	4.56	4.56	0.56223	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.508271	0.18605	N	0.136338	D	0.88500	0.6453	M	0.69823	2.125	0.80722	D	1	P	0.43231	0.801	B	0.37780	0.258	D	0.89238	0.3582	10	0.87932	D	0	-8.6513	10.2795	0.43530	1.0:0.0:0.0:0.0	.	106	Q8NHS2	AATC2_HUMAN	A	106;138	ENSP00000303077:V106A;ENSP00000430453:V138A	ENSP00000303077:V106A	V	-	2	0	GOT1L1	37914405	0.751000	0.28327	0.449000	0.26957	0.983000	0.72400	5.841000	0.69409	1.935000	0.56089	0.449000	0.29647	GTT	0	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.507	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT1L1	protein_coding	OTTHUMT00000376823.1	28	90	0	0.00	0	0	A	NM_152413	0	0		37795248	-1	no_errors	ENST00000307599	ensembl	human	known	74_37	missense	22	72	37.14	29.41	13	30	SNP	0.461	G
SNTG1	54212	genome.wustl.edu	37	8	51314864	51314864	+	Missense_Mutation	SNP	A	A	T			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr8:51314864A>T	ENST00000522124.1	+	4	783	c.122A>T	c.(121-123)cAg>cTg	p.Q41L	SNTG1_ENST00000517473.1_Missense_Mutation_p.Q41L|SNTG1_ENST00000518864.1_Missense_Mutation_p.Q41L|SNTG1_ENST00000276467.5_Missense_Mutation_p.Q41L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	41					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATCCAGGAACAGGATGTGATA	0.388																																							0											0													238.0	233.0	234.0					8																	51314864		2203	4300	6503	SO:0001583	missense	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.122A>T	8.37:g.51314864A>T	ENSP00000429842:p.Gln41Leu		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.Q41L	ENST00000522124.1	37	c.122	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	A	13.40	2.224786	0.39300	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000523085;ENST00000276467	T;T;T;T	0.31247	1.5;1.5;2.24;2.24	4.96	4.96	0.65561	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	L	0.61387	1.9	0.80722	D	1	P;P	0.45126	0.454;0.851	B;P	0.58391	0.211;0.838	T	0.37430	-0.9706	10	0.34782	T	0.22	.	13.8229	0.63333	1.0:0.0:0.0:0.0	.	41;41	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	L	41	ENSP00000429276:Q41L;ENSP00000429842:Q41L;ENSP00000431123:Q41L;ENSP00000276467:Q41L	ENSP00000276467:Q41L	Q	+	2	0	SNTG1	51477417	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.234000	0.89801	1.875000	0.54330	0.533000	0.62120	CAG	0	superfamily_PDZ		0.388	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	protein_coding	OTTHUMT00000377964.1	61	249	0	0.00	0	0	A		0	0		51314864	1	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	58	142	18.06	28.50	13	57	SNP	1	T
AGO2	27161	genome.wustl.edu	37	8	141572626	141572626	+	Silent	SNP	T	T	C	rs147392710		TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr8:141572626T>C	ENST00000220592.5	-	4	556	c.444A>G	c.(442-444)tcA>tcG	p.S148S	AGO2_ENST00000519980.1_Silent_p.S148S	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	148					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										GCAGCCGCCCTGAAAGTGCAT	0.607																																							0											0													148.0	124.0	132.0					8																	141572626		2203	4300	6503	SO:0001819	synonymous_variant	0			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.444A>G	8.37:g.141572626T>C			Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.S148	ENST00000220592.5	37	c.444	CCDS6380.1	8																																																																																			0	superfamily_PAZ_dom		0.607	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO2	protein_coding	OTTHUMT00000377866.4	32	65	0	0.00	0	0	T		0	0		141572626	-1	no_errors	ENST00000220592	ensembl	human	known	74_37	silent	23	57	34.29	28.75	12	23	SNP	0.925	C
IFNK	56832	genome.wustl.edu	37	9	27524943	27524943	+	Silent	SNP	A	A	G			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr9:27524943A>G	ENST00000276943.2	+	1	632	c.609A>G	c.(607-609)ctA>ctG	p.L203L	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	203					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		TTACAGCTCTATTCAGGAGGA	0.353																																							0											0													27.0	30.0	29.0					9																	27524943		2202	4299	6501	SO:0001819	synonymous_variant	0			AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"""Interferons"""	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.609A>G	9.37:g.27524943A>G			Q5T166	Silent	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L203	ENST00000276943.2	37	c.609	CCDS6521.1	9																																																																																			0	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core		0.353	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNK	protein_coding	OTTHUMT00000051968.1	71	268	0	0.00	0	0	A	NM_020124	0	0		27524943	1	no_errors	ENST00000276943	ensembl	human	known	74_37	silent	42	195	31.15	25.00	19	65	SNP	0.012	G
ABCC2	1244	genome.wustl.edu	37	10	101578955	101578955	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr10:101578955C>T	ENST00000370449.4	+	19	2662	c.2549C>T	c.(2548-2550)gCc>gTc	p.A850V		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	850	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCTCTCCTGGCCAAAAAAGGA	0.428																																							0											0													98.0	101.0	100.0					10																	101578955		2203	4300	6503	SO:0001583	missense	0			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2549C>T	10.37:g.101578955C>T	ENSP00000359478:p.Ala850Val		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.A850V	ENST00000370449.4	37	c.2549	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388053	0.25118	.	.	ENSG00000023839	ENST00000370449	T	0.78595	-1.19	5.45	4.52	0.55395	ABC transporter-like (1);	0.048372	0.85682	D	0.000000	T	0.64405	0.2595	L	0.41824	1.3	0.80722	D	1	P	0.41475	0.751	B	0.29524	0.103	T	0.66110	-0.6005	10	0.49607	T	0.09	-9.349	11.6198	0.51111	0.1399:0.7254:0.1347:0.0	.	850	Q92887	MRP2_HUMAN	V	850	ENSP00000359478:A850V	ENSP00000359478:A850V	A	+	2	0	ABCC2	101568945	0.991000	0.36638	0.978000	0.43139	0.014000	0.08584	1.284000	0.33249	1.220000	0.43490	0.561000	0.74099	GCC	0	pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.428	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	protein_coding	OTTHUMT00000049825.1	30	241	0	0.00	0	0	C	NM_000392	0	0		101578955	1	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	22	167	26.67	23.04	8	50	SNP	1	T
SCYL2	55681	genome.wustl.edu	37	12	100732436	100732436	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr12:100732436C>T	ENST00000360820.2	+	18	2713	c.2276C>T	c.(2275-2277)tCt>tTt	p.S759F		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	759	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ATGATGTTTTCTACACCAACT	0.393																																							0											0													103.0	96.0	99.0					12																	100732436		2203	4300	6503	SO:0001583	missense	0			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2276C>T	12.37:g.100732436C>T	ENSP00000354061:p.Ser759Phe		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.S759F	ENST00000360820.2	37	c.2276	CCDS9076.1	12	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386340	0.61956	.	.	ENSG00000136021	ENST00000360820	T	0.36157	1.27	5.67	5.67	0.87782	.	0.195628	0.47455	D	0.000236	T	0.35799	0.0944	L	0.27053	0.805	0.45594	D	0.998536	P	0.47350	0.894	P	0.45037	0.467	T	0.10613	-1.0622	10	0.56958	D	0.05	.	20.1204	0.97958	0.0:1.0:0.0:0.0	.	759	Q6P3W7	SCYL2_HUMAN	F	759	ENSP00000354061:S759F	ENSP00000354061:S759F	S	+	2	0	SCYL2	99256567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.136000	0.50554	2.832000	0.97577	0.585000	0.79938	TCT	0	NULL		0.393	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL2	protein_coding	OTTHUMT00000408493.2	70	166	0	0.00	0	0	C	NM_017988	0	0		100732436	1	no_errors	ENST00000360820	ensembl	human	known	74_37	missense	44	155	26.67	28.24	16	61	SNP	1	T
RIPK3	11035	genome.wustl.edu	37	14	24807633	24807633	+	Silent	SNP	G	G	A			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr14:24807633G>A	ENST00000216274.5	-	4	830	c.612C>T	c.(610-612)gtC>gtT	p.V204V	RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|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)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CTTACCTGTAGACGTCACTGG	0.577																																					Pancreas(58;918 1191 4668 13304 15331)		0											0													146.0	154.0	152.0					14																	24807633		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.612C>T	14.37:g.24807633G>A			B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Silent	SNP	pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V204	ENST00000216274.5	37	c.612	CCDS9628.1	14																																																																																			0	pfam_Prot_kinase_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_dom		0.577	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK3	protein_coding	OTTHUMT00000073203.4	63	231	0	0.00	0	0	G	NM_006871	0	0		24807633	-1	no_errors	ENST00000216274	ensembl	human	known	74_37	silent	41	153	30.51	30.45	18	67	SNP	0.994	A
PSEN1	5663	genome.wustl.edu	37	14	73640274	73640274	+	Splice_Site	SNP	A	A	C			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr14:73640274A>C	ENST00000324501.5	+	5	611	c.339A>C	c.(337-339)ctA>ctC	p.L113L	PSEN1_ENST00000261970.3_Splice_Site_p.L113L|PSEN1_ENST00000344094.3_Splice_Site_p.L113L|PSEN1_ENST00000394157.3_Splice_Site_p.L113L|PSEN1_ENST00000394164.1_Splice_Site_p.L109L|PSEN1_ENST00000357710.4_Splice_Site_p.L109L|PSEN1_ENST00000557511.1_Splice_Site_p.L113L|PSEN1_ENST00000406768.1_Splice_Site_p.L21L	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	113			L -> P (in frontotemporal dementia). {ECO:0000269|PubMed:11094121}.		activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TTTATTGTAGAATCTATACCC	0.408																																							0											0													132.0	129.0	130.0					14																	73640274		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.339-1A>C	14.37:g.73640274A>C			B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Silent	SNP	pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.L113	ENST00000324501.5	37	c.339	CCDS9812.1	14																																																																																			0	pfam_Peptidase_A22A		0.408	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	protein_coding	OTTHUMT00000280500.2	73	245	0	0.00	0	0	A		0	0	Silent	73640274	1	no_errors	ENST00000324501	ensembl	human	known	74_37	silent	92	230	25.81	19.30	32	55	SNP	1	C
AC019294.1	0	genome.wustl.edu	37	15	76030437	76030438	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G|C	G|C	G|C	A|G	G|C	G|C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr15:76030437_76030438GC>AG	ENST00000543887.1	+	1	127_128	c.61_62GC>AG	c.(61-63)GCc>AGc	p.A21S	DNM1P35_ENST00000501931.1_RNA																							TGGGGCGGCCGCCAAGAGTGAA	0.609																																							0											0																																										SO:0001583	missense	0																														Exception_encountered	15.37:g.76030437_76030438delinsAG	ENSP00000439560:p.Ala21Ser			Missense_Mutation	SNP	NULL	p.A21T|p.A21G	ENST00000543887.1	37	c.61|c.62		15																																																																																			0	NULL		0.609	AC019294.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000256530	protein_coding		51	85|84	0	0.00	0	0	G|C		0	0		76030437|76030438	1	no_errors	ENST00000543887	ensembl	human	novel	74_37	missense	44	75|74	16.98	28.30|27.88	9	30|29	SNP	0.884|0.894	A|G
CRYM	1428	genome.wustl.edu	37	16	21289563	21289563	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr16:21289563C>T	ENST00000219599.3	-	3	275	c.10G>A	c.(10-12)Gta>Ata	p.V4I	CRYM_ENST00000396023.2_Missense_Mutation_p.V4I|CRYM_ENST00000543948.1_Missense_Mutation_p.V4I|CRYM_ENST00000574787.1_5'Flank|CRYM_ENST00000415987.2_5'UTR	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	4					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		AACGCTGGTACCCGGCTCATC	0.662											OREG0023670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													28.0	25.0	26.0					16																	21289563		2195	4296	6491	SO:0001583	missense	0				CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.10G>A	16.37:g.21289563C>T	ENSP00000219599:p.Val4Ile	747	D5MNX0|Q5HYB7	Missense_Mutation	SNP	pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd	p.V4I	ENST00000219599.3	37	c.10	CCDS10597.1	16	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023894	0.19433	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023	T;T;T	0.76448	-1.02;-1.02;-1.02	4.7	2.6	0.31112	.	0.696787	0.13995	N	0.348530	T	0.50463	0.1617	N	0.03608	-0.345	0.20307	N	0.999917	B	0.02656	0.0	B	0.01281	0.0	T	0.35051	-0.9804	10	0.36615	T	0.2	-22.4742	3.8133	0.08805	0.0:0.5676:0.205:0.2273	.	4	Q14894	CRYM_HUMAN	I	4	ENSP00000440227:V4I;ENSP00000219599:V4I;ENSP00000379341:V4I	ENSP00000219599:V4I	V	-	1	0	CRYM	21197064	0.000000	0.05858	0.373000	0.26003	0.408000	0.30992	0.061000	0.14366	1.183000	0.42943	0.563000	0.77884	GTA	0	NULL		0.662	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYM	protein_coding	OTTHUMT00000207398.1	108	67	0	0.00	0	0	C		0	0		21289563	-1	no_errors	ENST00000219599	ensembl	human	known	74_37	missense	95	36	25.78	32.08	33	17	SNP	0.053	T
SLC22A31	146429	genome.wustl.edu	37	16	89265865	89265865	+	Missense_Mutation	SNP	T	T	G			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr16:89265865T>G	ENST00000562855.2	-	4	568	c.569A>C	c.(568-570)cAc>cCc	p.H190P				A6NKX4	S22AV_HUMAN	solute carrier family 22, member 31	190					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)										TGTGCCCCCGTGGAGTAGGCG	0.697																																							0											0																																										SO:0001583	missense	0				CCDS73927.1	16q24.3	2014-02-12	2011-07-12		ENSG00000259803	ENSG00000259803		"""Solute carriers"""	27091	protein-coding gene	gene with protein product							Standard	NM_001242757		Approved		uc021tmr.1	A6NKX4	OTTHUMG00000175615	ENST00000562855.2:c.569A>C	16.37:g.89265865T>G	ENSP00000474621:p.His190Pro			Missense_Mutation	SNP	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.H190P	ENST00000562855.2	37	c.569		16																																																																																			0	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.697	SLC22A31-006	NOVEL	basic|appris_principal	protein_coding	SLC22A31	protein_coding	OTTHUMT00000469767.1	83	72	0	0.00	0	0	T	NM_001242757	0	0		89265865	-1	no_errors	ENST00000562855	ensembl	human	novel	74_37	missense	59	68	14.49	13.92	10	11	SNP	0	G
H3F3B	3021	genome.wustl.edu	37	17	73775230	73775230	+	Missense_Mutation	SNP	C	C	A			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr17:73775230C>A	ENST00000254810.4	-	2	158	c.26G>T	c.(25-27)cGt>cTt	p.R9L	H3F3B_ENST00000587560.1_Missense_Mutation_p.R9L|H3F3B_ENST00000589599.1_Missense_Mutation_p.R9L|H3F3B_ENST00000592643.1_Missense_Mutation_p.R9L|H3F3B_ENST00000591890.1_Missense_Mutation_p.R9L|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000586607.1_Missense_Mutation_p.R9L	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	9				R -> L (in Ref. 7; AAH81561). {ECO:0000305}.	blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTGGACTTACGAGCAGTCTG	0.647											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													27.0	28.0	27.0					17																	73775230		2203	4300	6503	SO:0001583	missense	0			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.26G>T	17.37:g.73775230C>A	ENSP00000254810:p.Arg9Leu	1147	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R9L	ENST00000254810.4	37	c.26	CCDS11729.1	17	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615455	0.46631	.	.	ENSG00000132475	ENST00000254810	T	0.44482	0.92	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000012	T	0.71375	0.3332	M	0.90252	3.1	0.58432	D	0.999996	.	.	.	.	.	.	T	0.77496	-0.2566	8	0.62326	D	0.03	.	18.6647	0.91485	0.0:1.0:0.0:0.0	.	.	.	.	L	9	ENSP00000254810:R9L	ENSP00000254810:R9L	R	-	2	0	H3F3B	71286825	1.000000	0.71417	0.211000	0.23655	0.984000	0.73092	7.262000	0.78410	2.639000	0.89480	0.655000	0.94253	CGT	0	superfamily_Histone-fold,prints_Histone_H3		0.647	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	protein_coding	OTTHUMT00000448499.1	118	56	0	0.00	0	0	C	NM_005324	0	0		73775230	-1	no_errors	ENST00000254810	ensembl	human	known	74_37	missense	75	32	24.75	23.81	25	10	SNP	1	A
OR7D4	125958	genome.wustl.edu	37	19	9325421	9325421	+	Silent	SNP	G	G	A	rs142183744		TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr19:9325421G>A	ENST00000308682.2	-	1	121	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACATGGACAGGAACAGCCCAA	0.522																																							0											0								G		2,4404	2.1+/-5.4	0,2,2201	72.0	70.0	71.0		93	-2.3	0.3	19	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	OR7D4	NM_001005191.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		31/313	9325421	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.93C>T	19.37:g.9325421G>A			A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F31	ENST00000308682.2	37	c.93	CCDS32901.1	19																																																																																			0	prints_GPCR_Rhodpsn		0.522	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	protein_coding	OTTHUMT00000449004.1	42	72	0	0.00	0	0	G		rs142183744	G->A		9325421	-1	no_errors	ENST00000308682	ensembl	human	known	74_37	silent	31	51	24.39	26.09	10	18	SNP	0.422	A
EPB41L1	2036	genome.wustl.edu	37	20	34761684	34761684	+	Splice_Site	SNP	A	A	G			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr20:34761684A>G	ENST00000338074.2	+	2	147		c.e2-1		EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_5'Flank|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000373950.2_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1						cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ATGCCAATGCAGGCGTGCTGG	0.602																																							0											0													43.0	44.0	44.0					20																	34761684		2203	4300	6503	SO:0001630	splice_region_variant	0			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.-14-1A>G	20.37:g.34761684A>G			O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Splice_Site	SNP	0	e1-2	ENST00000338074.2	37	c.1-2	CCDS13271.1	20																																																																																			0	0		0.602	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	protein_coding	OTTHUMT00000078978.3	49	104	0	0.00	0	0	A	NM_012156	0	0	Intron	34761684	1	no_errors	ENST00000338074	ensembl	human	known	74_37	splice_site	19	74	17.39	22.11	4	21	SNP	1	G
ATP6V1E1	529	genome.wustl.edu	37	22	18096014	18096014	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr22:18096014C>T	ENST00000253413.5	-	3	354	c.172G>A	c.(172-174)Gag>Aag	p.E58K	ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.E36K|ATP6V1E1_ENST00000478963.1_5'UTR|ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.E58K	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	58					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		TCTTTCTTCTCATAATATTCC	0.373																																							0											0													151.0	146.0	148.0					22																	18096014		2203	4300	6503	SO:0001583	missense	0			X76228	CCDS13745.1, CCDS42977.1, CCDS42978.1	22q11.2	2010-04-21	2006-01-13	2002-06-21	ENSG00000131100	ENSG00000131100	3.6.3.14	"""ATPases / V-type"""	857	protein-coding gene	gene with protein product		108746	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1"""	ATP6E, ATP6V1E		8004105, 8250920	Standard	NM_001696		Approved	P31, Vma4, ATP6E2	uc002zmr.1	P36543	OTTHUMG00000059320	ENST00000253413.5:c.172G>A	22.37:g.18096014C>T	ENSP00000253413:p.Glu58Lys		A8MUE4|A8MUN4	Missense_Mutation	SNP	pfam_ATPase_V1/A1-cplx_esu	p.E58K	ENST00000253413.5	37	c.172	CCDS13745.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.743589	0.96873	.	.	ENSG00000131100	ENST00000253413;ENST00000399796;ENST00000399798;ENST00000413576	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83041	0.5168	M	0.85041	2.73	0.80722	D	1	P;D;P	0.59767	0.933;0.986;0.933	P;D;P	0.65573	0.864;0.936;0.794	D	0.86236	0.1640	9	0.87932	D	0	-20.9163	17.3723	0.87382	0.0:1.0:0.0:0.0	.	36;58;58	A8MUE4;A8MUN4;P36543	.;.;VATE1_HUMAN	K	58;58;36;59	.	ENSP00000253413:E58K	E	-	1	0	ATP6V1E1	16476014	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.406000	0.80017	2.381000	0.81170	0.655000	0.94253	GAG	0	pfam_ATPase_V1/A1-cplx_esu		0.373	ATP6V1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1E1	protein_coding	OTTHUMT00000131790.3	43	72	0	0.00	0	0	C	NM_001696	0	0		18096014	-1	no_errors	ENST00000253413	ensembl	human	known	74_37	missense	32	50	31.91	31.51	15	23	SNP	1	T
SLC24A1	9187	genome.wustl.edu	37	15	65936780	65936782	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	AGA	AGA	AGA	-	AGA	AGA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr15:65936780_65936782delAGA	ENST00000261892.6	+	5	2356_2358	c.2069_2071delAGA	c.(2068-2073)gagaag>gag	p.K691del	SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_In_Frame_Del_p.K673del|SLC24A1_ENST00000544319.2_Intron|SLC24A1_ENST00000537259.1_In_Frame_Del_p.K673del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.K691del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.K673del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	691					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTGCCAAGGAGAAGGAGGAGGA	0.532																																							0											0																																										SO:0001651	inframe_deletion	0			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2069_2071delAGA	15.37:g.65936780_65936782delAGA	ENSP00000261892:p.Lys691del		O43485|O75184|Q17RM9	In_Frame_Del	DEL	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	p.K691in_frame_del	ENST00000261892.6	37	c.2069_2071	CCDS45284.1	15																																																																																			0	tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger		0.532	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	protein_coding	OTTHUMT00000397304.1	30	145	0	0.00	0	0	AGA	NM_004727	0	0		65936782	1	no_errors	ENST00000261892	ensembl	human	known	74_37	in_frame_del	25	133	16.67	18.90	5	31	DEL	0.997:0.994:0.997	0
EEF1A1	1915	genome.wustl.edu	37	6	74227391	74227391	+	3'UTR	SNP	T	T	G			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr6:74227391T>G	ENST00000316292.9	-	0	2522				EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_3'UTR|EEF1A1_ENST00000331523.2_3'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1						cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CATTCTCCTTTCCTTCTGAAG	0.333																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.*142A>C	6.37:g.74227391T>G			P04719|P04720|Q6IQ15	RNA	SNP	0	NULL	ENST00000316292.9	37	NULL	CCDS4980.1	6																																																																																			0	0		0.333	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	protein_coding	OTTHUMT00000041210.2	19	3	0	0.00	0	0	T	NM_001402	0	0		74227391	-1	no_errors	ENST00000491404	ensembl	human	known	74_37	rna	25	2	19.35	0.00	6	0	SNP	1	G
TCEB3B	51224	genome.wustl.edu	37	18	44561386	44561386	+	Missense_Mutation	SNP	G	G	C	rs199546236		TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr18:44561386G>C	ENST00000332567.4	-	1	602	c.250C>G	c.(250-252)Cgg>Ggg	p.R84G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	84					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCCAGGCCGGGTGTTTCGG	0.642																																							0											0													33.0	35.0	34.0					18																	44561386		2203	4299	6502	SO:0001583	missense	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.250C>G	18.37:g.44561386G>C	ENSP00000331302:p.Arg84Gly		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.R84G	ENST00000332567.4	37	c.250	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	C	3.920	-0.018359	0.07681	.	.	ENSG00000206181	ENST00000332567	T	0.06849	3.25	2.84	1.04	0.20106	Transcription factor IIS, N-terminal (2);	1.286690	0.05975	N	0.643084	T	0.03915	0.0110	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43782	-0.9370	10	0.31617	T	0.26	-9.8483	5.2986	0.15766	0.0:0.4749:0.4036:0.1216	.	84	Q8IYF1	ELOA2_HUMAN	G	84	ENSP00000331302:R84G	ENSP00000331302:R84G	R	-	1	2	TCEB3B	42815384	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.297000	0.08276	0.006000	0.14734	-2.819000	0.00109	CGG	0	superfamily_TFIIS_N		0.642	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	protein_coding	OTTHUMT00000255900.1	10	9	9.09	0.00	1	0	G	NM_016427	rs199546236	G->C		44561386	-1	no_errors	ENST00000332567	ensembl	human	known	74_37	missense	19	8	9.52	0.00	2	0	SNP	0	C
NFE2L3	9603	genome.wustl.edu	37	7	26192571	26192571	+	Frame_Shift_Del	DEL	G	G	-			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr7:26192571delG	ENST00000056233.3	+	1	712	c.453delG	c.(451-453)cagfs	p.Q151fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	151					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGGCTGTGCAGGGGGGCGGCG	0.791																																							0											0													1.0	1.0	1.0					7																	26192571		509	1269	1778	SO:0001589	frameshift_variant	0			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.453delG	7.37:g.26192571delG	ENSP00000056233:p.Gln151fs		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Del	DEL	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.G153fs	ENST00000056233.3	37	c.453	CCDS5396.1	7																																																																																			0	NULL		0.791	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	protein_coding	OTTHUMT00000214088.1	11	6	0	0.00	0	0	G		0	0		26192571	1	no_errors	ENST00000056233	ensembl	human	known	74_37	frame_shift_del	14	3	12.5	0.00	2	0	DEL	0	0
CEBPA	1050	genome.wustl.edu	37	19	33793008	33793010	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr19:33793008_33793010delCGC	ENST00000498907.2	-	1	460_462	c.311_313delGCG	c.(310-315)ggcgac>gac	p.G104del	CTD-2540B15.11_ENST00000589932.1_RNA|CTD-2540B15.9_ENST00000593041.1_lincRNA|CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	104	Poly-Gly.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G104del(3)|p.Q87fs*32(2)|p.G96fs*56(2)|p.D105>GD(1)|p.L78_A174del(1)|p.G102_G104del(1)|p.Y7_G130del(1)|p.P97fs*55(1)|p.D105fs*56(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					TAGTCAAAGTcgccgccgccgcc	0.793			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																														0		Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	13	Deletion - In frame(6)|Deletion - Frameshift(5)|Complex - frameshift(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(13)								3,787		1,1,393				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		3.0	1.0		dbSNP_133	1	3,1639		1,1,819	no	coding	CEBPA	NM_004364.3		2,2,1212	A1A1,A1R,RR		0.1827,0.3797,0.2467				6,2426				SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.311_313delGCG	19.37:g.33793017_33793019delCGC	ENSP00000427514:p.Gly104del		A7LNP2|P78319|Q05CA4	In_Frame_Del	DEL	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.G104in_frame_del	ENST00000498907.2	37	c.313_311	CCDS54243.1	19																																																																																			0	pirsf_CCAAT/enhancer-binding		0.793	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	13	1	0	0.00	0	0	CGC	NM_004364	0	0		33793010	-1	no_errors	ENST00000498907	ensembl	human	known	74_37	in_frame_del	1	0	66.67	0.00	2	0	DEL	0.998:0.995:1.000	0
