#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ALOX12B	242	genome.wustl.edu	37	17	7989371	7989371	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr17:7989371C>T	ENST00000319144.4	-	2	575	c.315G>A	c.(313-315)atG>atA	p.M105I	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	105	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CGTAGCCATCCATCCACTGGT	0.612										Multiple Myeloma(8;0.094)																												dbGAP											0													109.0	95.0	100.0					17																	7989371		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.315G>A	17.37:g.7989371C>T	ENSP00000315167:p.Met105Ile			Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C,prints_LipOase_mml	p.M105I	ENST00000319144.4	37	c.315	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	C	2.925	-0.222261	0.06061	.	.	ENSG00000179477	ENST00000319144	T	0.72835	-0.69	4.63	0.193	0.15139	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.185008	0.64402	N	0.000015	T	0.30978	0.0782	N	0.01640	-0.785	0.27771	N	0.943497	B	0.02656	0.0	B	0.09377	0.004	T	0.37731	-0.9693	10	0.02654	T	1	-27.5192	5.48	0.16719	0.0:0.4913:0.2662:0.2425	.	105	O75342	LX12B_HUMAN	I	105	ENSP00000315167:M105I	ENSP00000315167:M105I	M	-	3	0	ALOX12B	7930096	0.474000	0.25886	1.000000	0.80357	0.997000	0.91878	-0.429000	0.06982	0.195000	0.20347	0.555000	0.69702	ATG	ALOX12B	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	ENSG00000179477		0.612	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	66	0.00	0	C			7989371	7989371	-1	no_errors	ENST00000319144	ensembl	human	known	69_37n	missense	30	31.82	14	SNP	0.947	T
ALOX12B	242	genome.wustl.edu	37	17	7989371	7989371	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr17:7989371C>T	ENST00000319144.4	-	2	575	c.315G>A	c.(313-315)atG>atA	p.M105I	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	105	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CGTAGCCATCCATCCACTGGT	0.612										Multiple Myeloma(8;0.094)																												dbGAP											0													109.0	95.0	100.0					17																	7989371		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.315G>A	17.37:g.7989371C>T	ENSP00000315167:p.Met105Ile			Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C,prints_LipOase_mml	p.M105I	ENST00000319144.4	37	c.315	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	C	2.925	-0.222261	0.06061	.	.	ENSG00000179477	ENST00000319144	T	0.72835	-0.69	4.63	0.193	0.15139	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.185008	0.64402	N	0.000015	T	0.30978	0.0782	N	0.01640	-0.785	0.27771	N	0.943497	B	0.02656	0.0	B	0.09377	0.004	T	0.37731	-0.9693	10	0.02654	T	1	-27.5192	5.48	0.16719	0.0:0.4913:0.2662:0.2425	.	105	O75342	LX12B_HUMAN	I	105	ENSP00000315167:M105I	ENSP00000315167:M105I	M	-	3	0	ALOX12B	7930096	0.474000	0.25886	1.000000	0.80357	0.997000	0.91878	-0.429000	0.06982	0.195000	0.20347	0.555000	0.69702	ATG	ALOX12B	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	ENSG00000179477		0.612	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	115	0.00	0	C			7989371	7989371	-1	no_errors	ENST00000319144	ensembl	human	known	69_37n	missense	30	31.82	14	SNP	0.947	T
AMICA1	120425	genome.wustl.edu	37	11	118081378	118081378	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr11:118081378C>T	ENST00000356289.5	-	4	421	c.248G>A	c.(247-249)cGc>cAc	p.R83H	AMICA1_ENST00000292067.7_Missense_Mutation_p.R73H|AMICA1_ENST00000533261.1_Missense_Mutation_p.R83H|AMICA1_ENST00000526620.1_Missense_Mutation_p.R44H	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	83	Ig-like V-type 1.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTTCTGGAAGCGCCCAATAGG	0.493																																						dbGAP											0													133.0	122.0	126.0					11																	118081378		2200	4296	6496	-	-	-	SO:0001583	missense	0			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.248G>A	11.37:g.118081378C>T	ENSP00000348635:p.Arg83His		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.R83H	ENST00000356289.5	37	c.248	CCDS41723.1	11	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293295	0.23564	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867;ENST00000524477;ENST00000525565	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.14	3.14	0.36123	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123330	0.37906	N	0.001890	T	0.49150	0.1540	L	0.42581	1.335	0.35000	D	0.75585	P;P;P;P;P	0.45634	0.53;0.863;0.53;0.53;0.474	B;B;B;B;B	0.36030	0.062;0.216;0.062;0.062;0.037	T	0.57997	-0.7714	10	0.30854	T	0.27	-13.2096	6.3736	0.21495	0.0:0.779:0.0:0.221	.	83;44;83;83;73	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	H	83;73;83;44;44;44;83	ENSP00000348635:R83H;ENSP00000292067:R73H;ENSP00000436117:R83H;ENSP00000431218:R44H;ENSP00000432769:R44H;ENSP00000431791:R83H	ENSP00000292067:R73H	R	-	2	0	AMICA1	117586588	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	0.973000	0.29422	1.401000	0.46761	0.655000	0.94253	CGC	AMICA1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000160593		0.493	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	HGNC	protein_coding	OTTHUMT00000392105.2	138	0.00	0	C	NM_153206		118081378	118081378	-1	no_errors	ENST00000356289	ensembl	human	known	69_37n	missense	25	46.81	22	SNP	1.000	T
AMICA1	120425	genome.wustl.edu	37	11	118081378	118081378	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr11:118081378C>T	ENST00000356289.5	-	4	421	c.248G>A	c.(247-249)cGc>cAc	p.R83H	AMICA1_ENST00000292067.7_Missense_Mutation_p.R73H|AMICA1_ENST00000533261.1_Missense_Mutation_p.R83H|AMICA1_ENST00000526620.1_Missense_Mutation_p.R44H	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	83	Ig-like V-type 1.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTTCTGGAAGCGCCCAATAGG	0.493																																						dbGAP											0													133.0	122.0	126.0					11																	118081378		2200	4296	6496	-	-	-	SO:0001583	missense	0			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.248G>A	11.37:g.118081378C>T	ENSP00000348635:p.Arg83His		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.R83H	ENST00000356289.5	37	c.248	CCDS41723.1	11	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293295	0.23564	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867;ENST00000524477;ENST00000525565	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.14	3.14	0.36123	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123330	0.37906	N	0.001890	T	0.49150	0.1540	L	0.42581	1.335	0.35000	D	0.75585	P;P;P;P;P	0.45634	0.53;0.863;0.53;0.53;0.474	B;B;B;B;B	0.36030	0.062;0.216;0.062;0.062;0.037	T	0.57997	-0.7714	10	0.30854	T	0.27	-13.2096	6.3736	0.21495	0.0:0.779:0.0:0.221	.	83;44;83;83;73	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	H	83;73;83;44;44;44;83	ENSP00000348635:R83H;ENSP00000292067:R73H;ENSP00000436117:R83H;ENSP00000431218:R44H;ENSP00000432769:R44H;ENSP00000431791:R83H	ENSP00000292067:R73H	R	-	2	0	AMICA1	117586588	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	0.973000	0.29422	1.401000	0.46761	0.655000	0.94253	CGC	AMICA1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000160593		0.493	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	HGNC	protein_coding	OTTHUMT00000392105.2	180	0.00	0	C	NM_153206		118081378	118081378	-1	no_errors	ENST00000356289	ensembl	human	known	69_37n	missense	25	46.81	22	SNP	1.000	T
ATAD2B	54454	genome.wustl.edu	37	2	24118722	24118722	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr2:24118722C>A	ENST00000238789.5	-	2	678	c.335G>T	c.(334-336)cGa>cTa	p.R112L		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	112						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTCCTCTCGCTGACCAGT	0.398																																						dbGAP											0													118.0	110.0	112.0					2																	24118722		1915	4141	6056	-	-	-	SO:0001583	missense	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.335G>T	2.37:g.24118722C>A	ENSP00000238789:p.Arg112Leu		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R112L	ENST00000238789.5	37	c.335	CCDS46227.1	2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747432	0.89663	.	.	ENSG00000119778	ENST00000238789;ENST00000439915	D;T	0.94613	-3.47;0.26	5.03	5.03	0.67393	.	.	.	.	.	D	0.93390	0.7892	N	0.08118	0	0.48395	D	0.99964	D;D	0.89917	1.0;0.987	D;D	0.87578	0.998;0.931	D	0.92539	0.6040	9	0.23302	T	0.38	.	18.7496	0.91809	0.0:1.0:0.0:0.0	.	112;112	C9JG15;Q9ULI0	.;ATD2B_HUMAN	L	112	ENSP00000238789:R112L;ENSP00000403177:R112L	ENSP00000238789:R112L	R	-	2	0	ATAD2B	23972226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.247000	0.65416	2.513000	0.84729	0.655000	0.94253	CGA	ATAD2B	-	NULL	ENSG00000119778		0.398	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1	308	0.32	1	C	NM_017552		24118722	24118722	-1	no_errors	ENST00000238789	ensembl	human	known	69_37n	missense	131	28.65	53	SNP	1.000	A
CCNB1	891	genome.wustl.edu	37	5	68470891	68470891	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr5:68470891G>T	ENST00000256442.5	+	6	1146	c.893G>T	c.(892-894)gGt>gTt	p.G298V	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	298					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTTGGTCTGGGTCGGCCTCTA	0.433																																						dbGAP											0													131.0	135.0	134.0					5																	68470891		2203	4300	6503	-	-	-	SO:0001583	missense	0			U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.893G>T	5.37:g.68470891G>T	ENSP00000256442:p.Gly298Val		A8K066|Q5TZP9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.G298V	ENST00000256442.5	37	c.893	CCDS3997.1	5	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945037	0.73672	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000505500;ENST00000507798	T;T;T;T	0.32023	2.62;2.62;2.38;1.47	6.17	5.3	0.74995	Cyclin-like (2);	0.046390	0.85682	D	0.000000	T	0.68961	0.3058	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;0.979;0.999	D;D;D	0.85130	0.997;0.914;0.99	T	0.80621	-0.1301	10	0.72032	D	0.01	.	15.9944	0.80230	0.0:0.0:0.8642:0.1358	.	298;298;298	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	V	298;298;298;114	ENSP00000256442:G298V;ENSP00000423387:G298V;ENSP00000424588:G298V;ENSP00000426230:G114V	ENSP00000256442:G298V	G	+	2	0	CCNB1	68506647	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.667000	0.74451	1.615000	0.50252	-0.169000	0.13324	GGT	CCNB1	-	superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000134057		0.433	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB1	HGNC	protein_coding	OTTHUMT00000215084.1	230	0.86	2	G	NM_031966		68470891	68470891	+1	no_errors	ENST00000256442	ensembl	human	known	69_37n	missense	74	37.29	44	SNP	0.999	T
CCNB1	891	genome.wustl.edu	37	5	68470891	68470891	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr5:68470891G>T	ENST00000256442.5	+	6	1146	c.893G>T	c.(892-894)gGt>gTt	p.G298V	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	298					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTTGGTCTGGGTCGGCCTCTA	0.433																																						dbGAP											0													131.0	135.0	134.0					5																	68470891		2203	4300	6503	-	-	-	SO:0001583	missense	0			U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.893G>T	5.37:g.68470891G>T	ENSP00000256442:p.Gly298Val		A8K066|Q5TZP9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.G298V	ENST00000256442.5	37	c.893	CCDS3997.1	5	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945037	0.73672	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000505500;ENST00000507798	T;T;T;T	0.32023	2.62;2.62;2.38;1.47	6.17	5.3	0.74995	Cyclin-like (2);	0.046390	0.85682	D	0.000000	T	0.68961	0.3058	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;0.979;0.999	D;D;D	0.85130	0.997;0.914;0.99	T	0.80621	-0.1301	10	0.72032	D	0.01	.	15.9944	0.80230	0.0:0.0:0.8642:0.1358	.	298;298;298	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	V	298;298;298;114	ENSP00000256442:G298V;ENSP00000423387:G298V;ENSP00000424588:G298V;ENSP00000426230:G114V	ENSP00000256442:G298V	G	+	2	0	CCNB1	68506647	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.667000	0.74451	1.615000	0.50252	-0.169000	0.13324	GGT	CCNB1	-	superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000134057		0.433	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB1	HGNC	protein_coding	OTTHUMT00000215084.1	162	0.00	0	G	NM_031966		68470891	68470891	+1	no_errors	ENST00000256442	ensembl	human	known	69_37n	missense	74	37.29	44	SNP	0.999	T
CRTAP	10491	genome.wustl.edu	37	3	33175699	33175699	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr3:33175699C>T	ENST00000320954.6	+	6	1193	c.1094C>T	c.(1093-1095)aCc>aTc	p.T365I	CRTAP_ENST00000449224.1_Missense_Mutation_p.T322I	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	365					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TTTAATGTGACCACACTCCAG	0.423																																						dbGAP											0													163.0	148.0	153.0					3																	33175699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.1094C>T	3.37:g.33175699C>T	ENSP00000323696:p.Thr365Ile		B2RBL6	Missense_Mutation	SNP	NULL	p.T365I	ENST00000320954.6	37	c.1094	CCDS2657.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266747	0.80358	.	.	ENSG00000170275	ENST00000320954;ENST00000539684;ENST00000449224	T;T	0.59638	0.34;0.25	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.68973	-0.5268	10	0.25106	T	0.35	-6.2918	18.5767	0.91157	0.0:1.0:0.0:0.0	.	322;365	C9JP16;O75718	.;CRTAP_HUMAN	I	365;352;322	ENSP00000323696:T365I;ENSP00000409997:T322I	ENSP00000323696:T365I	T	+	2	0	CRTAP	33150703	1.000000	0.71417	0.929000	0.37066	0.882000	0.50991	7.053000	0.76641	2.469000	0.83416	0.462000	0.41574	ACC	CRTAP	-	NULL	ENSG00000170275		0.423	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAP	HGNC	protein_coding	OTTHUMT00000253246.3	425	0.70	3	C			33175699	33175699	+1	no_errors	ENST00000320954	ensembl	human	known	69_37n	missense	146	34.08	76	SNP	1.000	T
CRTAP	10491	genome.wustl.edu	37	3	33175699	33175699	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr3:33175699C>T	ENST00000320954.6	+	6	1193	c.1094C>T	c.(1093-1095)aCc>aTc	p.T365I	CRTAP_ENST00000449224.1_Missense_Mutation_p.T322I	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	365					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TTTAATGTGACCACACTCCAG	0.423																																						dbGAP											0													163.0	148.0	153.0					3																	33175699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.1094C>T	3.37:g.33175699C>T	ENSP00000323696:p.Thr365Ile		B2RBL6	Missense_Mutation	SNP	NULL	p.T365I	ENST00000320954.6	37	c.1094	CCDS2657.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266747	0.80358	.	.	ENSG00000170275	ENST00000320954;ENST00000539684;ENST00000449224	T;T	0.59638	0.34;0.25	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.68973	-0.5268	10	0.25106	T	0.35	-6.2918	18.5767	0.91157	0.0:1.0:0.0:0.0	.	322;365	C9JP16;O75718	.;CRTAP_HUMAN	I	365;352;322	ENSP00000323696:T365I;ENSP00000409997:T322I	ENSP00000323696:T365I	T	+	2	0	CRTAP	33150703	1.000000	0.71417	0.929000	0.37066	0.882000	0.50991	7.053000	0.76641	2.469000	0.83416	0.462000	0.41574	ACC	CRTAP	-	NULL	ENSG00000170275		0.423	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAP	HGNC	protein_coding	OTTHUMT00000253246.3	389	0.00	0	C			33175699	33175699	+1	no_errors	ENST00000320954	ensembl	human	known	69_37n	missense	146	34.08	76	SNP	1.000	T
CTNNAL1	8727	genome.wustl.edu	37	9	111735100	111735100	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr9:111735100G>T	ENST00000325551.4	-	9	1288	c.1202C>A	c.(1201-1203)gCg>gAg	p.A401E	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.A401E|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	401					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAGCTGTGTCGCTGTACTATG	0.433																																						dbGAP											0													50.0	49.0	49.0					9																	111735100		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1202C>A	9.37:g.111735100G>T	ENSP00000320434:p.Ala401Glu		B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.A401E	ENST00000325551.4	37	c.1202	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.198385	0.94997	.	.	ENSG00000119326	ENST00000374595;ENST00000325551	T;T	0.37058	1.22;1.22	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.993;0.999	T	0.58797	-0.7573	10	0.38643	T	0.18	-14.0562	18.0604	0.89375	0.0:0.0:1.0:0.0	.	401;401;401	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	E	401	ENSP00000363723:A401E;ENSP00000320434:A401E	ENSP00000320434:A401E	A	-	2	0	CTNNAL1	110774921	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	9.244000	0.95423	2.854000	0.98071	0.655000	0.94253	GCG	CTNNAL1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000119326		0.433	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	84	0.00	0	G	NM_003798		111735100	111735100	-1	no_errors	ENST00000325551	ensembl	human	known	69_37n	missense	31	45.61	26	SNP	1.000	T
CTNNAL1	8727	genome.wustl.edu	37	9	111735100	111735100	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr9:111735100G>T	ENST00000325551.4	-	9	1288	c.1202C>A	c.(1201-1203)gCg>gAg	p.A401E	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.A401E|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	401					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAGCTGTGTCGCTGTACTATG	0.433																																						dbGAP											0													50.0	49.0	49.0					9																	111735100		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1202C>A	9.37:g.111735100G>T	ENSP00000320434:p.Ala401Glu		B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.A401E	ENST00000325551.4	37	c.1202	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.198385	0.94997	.	.	ENSG00000119326	ENST00000374595;ENST00000325551	T;T	0.37058	1.22;1.22	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.993;0.999	T	0.58797	-0.7573	10	0.38643	T	0.18	-14.0562	18.0604	0.89375	0.0:0.0:1.0:0.0	.	401;401;401	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	E	401	ENSP00000363723:A401E;ENSP00000320434:A401E	ENSP00000320434:A401E	A	-	2	0	CTNNAL1	110774921	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	9.244000	0.95423	2.854000	0.98071	0.655000	0.94253	GCG	CTNNAL1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000119326		0.433	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	81	0.00	0	G	NM_003798		111735100	111735100	-1	no_errors	ENST00000325551	ensembl	human	known	69_37n	missense	31	45.61	26	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	32591673	32591673	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chrX:32591673T>G	ENST00000357033.4	-	15	1992	c.1786A>C	c.(1786-1788)Atg>Ctg	p.M596L	DMD_ENST00000378677.2_Missense_Mutation_p.M592L|DMD_ENST00000288447.4_Missense_Mutation_p.M588L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	596					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTGATAACATTTCATTTTGA	0.333																																						dbGAP											0													102.0	93.0	96.0					X																	32591673		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1786A>C	X.37:g.32591673T>G	ENSP00000354923:p.Met596Leu		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.M596L	ENST00000357033.4	37	c.1786	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	0.059	-1.227796	0.01518	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.26957	1.7;1.7;1.7	4.97	3.8	0.43715	.	0.000000	0.42172	U	0.000745	T	0.16471	0.0396	L	0.39245	1.2	0.80722	D	1	B;B;B;B	0.24721	0.02;0.021;0.11;0.012	B;B;B;B	0.20384	0.004;0.016;0.029;0.007	T	0.07597	-1.0764	10	0.02654	T	1	.	9.7818	0.40653	0.0:0.0831:0.0:0.9169	.	588;588;596;592	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	L	588;592;596;596;473;588	ENSP00000367948:M592L;ENSP00000354923:M596L;ENSP00000288447:M588L	ENSP00000288447:M588L	M	-	1	0	DMD	32501594	1.000000	0.71417	0.794000	0.32065	0.152000	0.21847	3.678000	0.54627	0.575000	0.29434	0.437000	0.28790	ATG	DMD	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.333	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	330	0.00	0	T	NM_004006		32591673	32591673	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	123	21.66	34	SNP	1.000	G
DMD	1756	genome.wustl.edu	37	X	32591673	32591673	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chrX:32591673T>G	ENST00000357033.4	-	15	1992	c.1786A>C	c.(1786-1788)Atg>Ctg	p.M596L	DMD_ENST00000378677.2_Missense_Mutation_p.M592L|DMD_ENST00000288447.4_Missense_Mutation_p.M588L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	596					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTGATAACATTTCATTTTGA	0.333																																						dbGAP											0													102.0	93.0	96.0					X																	32591673		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1786A>C	X.37:g.32591673T>G	ENSP00000354923:p.Met596Leu		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.M596L	ENST00000357033.4	37	c.1786	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	0.059	-1.227796	0.01518	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.26957	1.7;1.7;1.7	4.97	3.8	0.43715	.	0.000000	0.42172	U	0.000745	T	0.16471	0.0396	L	0.39245	1.2	0.80722	D	1	B;B;B;B	0.24721	0.02;0.021;0.11;0.012	B;B;B;B	0.20384	0.004;0.016;0.029;0.007	T	0.07597	-1.0764	10	0.02654	T	1	.	9.7818	0.40653	0.0:0.0831:0.0:0.9169	.	588;588;596;592	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	L	588;592;596;596;473;588	ENSP00000367948:M592L;ENSP00000354923:M596L;ENSP00000288447:M588L	ENSP00000288447:M588L	M	-	1	0	DMD	32501594	1.000000	0.71417	0.794000	0.32065	0.152000	0.21847	3.678000	0.54627	0.575000	0.29434	0.437000	0.28790	ATG	DMD	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.333	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	204	0.00	0	T	NM_004006		32591673	32591673	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	123	21.66	34	SNP	1.000	G
DNAH5	1767	genome.wustl.edu	37	5	13759060	13759060	+	Silent	SNP	G	G	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr5:13759060G>A	ENST00000265104.4	-	61	10418	c.10314C>T	c.(10312-10314)ctC>ctT	p.L3438L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3438	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATGGCCAGGAGATGGCGAT	0.542									Kartagener syndrome																													dbGAP											0													183.0	164.0	171.0					5																	13759060		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10314C>T	5.37:g.13759060G>A			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3438	ENST00000265104.4	37	c.10314	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.542	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	95	0.00	0	G	NM_001369		13759060	13759060	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	silent	40	41.18	28	SNP	0.005	A
DNAH5	1767	genome.wustl.edu	37	5	13759060	13759060	+	Silent	SNP	G	G	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr5:13759060G>A	ENST00000265104.4	-	61	10418	c.10314C>T	c.(10312-10314)ctC>ctT	p.L3438L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3438	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATGGCCAGGAGATGGCGAT	0.542									Kartagener syndrome																													dbGAP											0													183.0	164.0	171.0					5																	13759060		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10314C>T	5.37:g.13759060G>A			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3438	ENST00000265104.4	37	c.10314	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.542	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	184	0.00	0	G	NM_001369		13759060	13759060	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	silent	40	41.18	28	SNP	0.005	A
DOT1L	84444	genome.wustl.edu	37	19	2213589	2213589	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr19:2213589C>G	ENST00000398665.3	+	17	1645	c.1609C>G	c.(1609-1611)Cag>Gag	p.Q537E	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	537					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCACTGCCAGGCCCAGAA	0.622																																						dbGAP											0													53.0	58.0	56.0					19																	2213589		2021	4167	6188	-	-	-	SO:0001583	missense	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1609C>G	19.37:g.2213589C>G	ENSP00000381657:p.Gln537Glu		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.Q537E	ENST00000398665.3	37	c.1609	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195147	0.58017	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.23147	1.92	4.76	4.76	0.60689	.	0.058919	0.64402	D	0.000001	T	0.31857	0.0810	M	0.66939	2.045	0.41965	D	0.990722	B	0.13145	0.007	B	0.13407	0.009	T	0.21211	-1.0252	10	0.87932	D	0	-21.1905	16.771	0.85537	0.0:1.0:0.0:0.0	.	537	Q8TEK3-2	.	E	537	ENSP00000381657:Q537E	ENSP00000221482:Q537E	Q	+	1	0	DOT1L	2164589	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.815000	0.75242	2.185000	0.69588	0.561000	0.74099	CAG	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.622	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	113	0.00	0	C	NM_032482		2213589	2213589	+1	no_errors	ENST00000398665	ensembl	human	known	69_37n	missense	61	37.76	37	SNP	1.000	G
DOT1L	84444	genome.wustl.edu	37	19	2213589	2213589	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr19:2213589C>G	ENST00000398665.3	+	17	1645	c.1609C>G	c.(1609-1611)Cag>Gag	p.Q537E	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	537					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCACTGCCAGGCCCAGAA	0.622																																						dbGAP											0													53.0	58.0	56.0					19																	2213589		2021	4167	6188	-	-	-	SO:0001583	missense	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1609C>G	19.37:g.2213589C>G	ENSP00000381657:p.Gln537Glu		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.Q537E	ENST00000398665.3	37	c.1609	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195147	0.58017	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.23147	1.92	4.76	4.76	0.60689	.	0.058919	0.64402	D	0.000001	T	0.31857	0.0810	M	0.66939	2.045	0.41965	D	0.990722	B	0.13145	0.007	B	0.13407	0.009	T	0.21211	-1.0252	10	0.87932	D	0	-21.1905	16.771	0.85537	0.0:1.0:0.0:0.0	.	537	Q8TEK3-2	.	E	537	ENSP00000381657:Q537E	ENSP00000221482:Q537E	Q	+	1	0	DOT1L	2164589	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.815000	0.75242	2.185000	0.69588	0.561000	0.74099	CAG	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.622	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	167	0.60	1	C	NM_032482		2213589	2213589	+1	no_errors	ENST00000398665	ensembl	human	known	69_37n	missense	61	37.76	37	SNP	1.000	G
DSCAM	1826	genome.wustl.edu	37	21	41719610	41719610	+	Silent	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr21:41719610C>T	ENST00000400454.1	-	6	1674	c.1197G>A	c.(1195-1197)caG>caA	p.Q399Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	399	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAGGACCACCTGCACATAGT	0.507																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													176.0	159.0	165.0					21																	41719610		1983	4171	6154	-	-	-	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1197G>A	21.37:g.41719610C>T			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q399	ENST00000400454.1	37	c.1197	CCDS42929.1	21																																																																																			DSCAM	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000171587		0.507	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	176	0.56	1	C	NM_001389		41719610	41719610	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	silent	77	35.29	42	SNP	0.996	T
DSCAM	1826	genome.wustl.edu	37	21	41719610	41719610	+	Silent	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr21:41719610C>T	ENST00000400454.1	-	6	1674	c.1197G>A	c.(1195-1197)caG>caA	p.Q399Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	399	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAGGACCACCTGCACATAGT	0.507																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													176.0	159.0	165.0					21																	41719610		1983	4171	6154	-	-	-	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1197G>A	21.37:g.41719610C>T			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q399	ENST00000400454.1	37	c.1197	CCDS42929.1	21																																																																																			DSCAM	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000171587		0.507	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	228	0.00	0	C	NM_001389		41719610	41719610	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	silent	77	35.29	42	SNP	0.996	T
ELAC2	60528	genome.wustl.edu	37	17	12913975	12913975	+	Silent	SNP	T	T	C			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr17:12913975T>C	ENST00000338034.4	-	8	932	c.693A>G	c.(691-693)agA>agG	p.R231R	ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000395962.2_Silent_p.R212R|ELAC2_ENST00000426905.3_Silent_p.R191R	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	231					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TGACCCCTCTTCTCTGGCTAA	0.473																																						dbGAP											0													75.0	66.0	69.0					17																	12913975		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.693A>G	17.37:g.12913975T>C			B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	NULL	p.K8E	ENST00000338034.4	37	c.22	CCDS11164.1	17	.	.	.	.	.	.	.	.	.	.	T	7.096	0.573071	0.13623	.	.	ENSG00000006744	ENST00000446899	.	.	.	4.28	-1.65	0.08291	.	.	.	.	.	T	0.31734	0.0806	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33624	-0.9861	4	.	.	.	-0.1435	8.708	0.34367	0.0:0.4841:0.0:0.5159	.	.	.	.	E	8	.	.	K	-	1	0	ELAC2	12854700	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.641000	0.05434	-0.363000	0.08101	0.533000	0.62120	AAG	ELAC2	-	NULL	ENSG00000006744		0.473	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC2	HGNC	protein_coding	OTTHUMT00000129934.5	127	0.00	0	T			12913975	12913975	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000446899	ensembl	human	putative	69_37n	missense	34	43.33	26	SNP	0.000	C
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA				RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	115	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	145	14.71	25	INS	0.033:0.036	GCA
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA				RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	152	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	145	14.71	25	INS	0.033:0.036	GCA
FGFR2	2263	genome.wustl.edu	37	10	123258034	123258034	+	Missense_Mutation	SNP	A	A	T	rs121913476		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr10:123258034A>T	ENST00000358487.5	-	12	1919	c.1647T>A	c.(1645-1647)aaT>aaA	p.N549K	FGFR2_ENST00000357555.5_Missense_Mutation_p.N460K|FGFR2_ENST00000369056.1_Missense_Mutation_p.N550K|FGFR2_ENST00000346997.2_Missense_Mutation_p.N547K|FGFR2_ENST00000478859.1_Missense_Mutation_p.N321K|FGFR2_ENST00000369060.4_Missense_Mutation_p.N433K|FGFR2_ENST00000369061.4_Missense_Mutation_p.N437K|FGFR2_ENST00000457416.2_Missense_Mutation_p.N550K|FGFR2_ENST00000351936.6_Missense_Mutation_p.N547K|FGFR2_ENST00000356226.4_Missense_Mutation_p.N432K|FGFR2_ENST00000360144.3_Missense_Mutation_p.N461K|FGFR2_ENST00000369059.1_Missense_Mutation_p.N435K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> H (in CS; constitutive kinase activity). {ECO:0000269|PubMed:11781872}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.N549K(21)|p.N547K(4)|p.N460K(4)|p.N550K(4)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CTCCAAGAAGATTTATGATAT	0.423	N549K(AN3CA_ENDOMETRIUM)|N549K(MFE296_ENDOMETRIUM)	5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													dbGAP		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	33	Substitution - Missense(33)	endometrium(33)											169.0	151.0	157.0					10																	123258034		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1647T>A	10.37:g.123258034A>T	ENSP00000351276:p.Asn549Lys		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N550K	ENST00000358487.5	37	c.1650	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713491	0.68730	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.02	2.67	0.31697	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87382	0.6163	N	0.04880	-0.145	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.999;1.0;1.0;1.0;0.999;1.0;1.0	D	0.85769	0.1354	10	0.87932	D	0	.	7.515	0.27596	0.7605:0.0:0.2395:0.0	.	566;548;460;432;549;461;550;452	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	K	460;550;437;549;432;433;435;141;547;550;547;461;550;550;458	ENSP00000350166:N460K;ENSP00000358057:N437K;ENSP00000351276:N549K;ENSP00000348559:N432K;ENSP00000358056:N433K;ENSP00000358055:N435K;ENSP00000404219:N141K;ENSP00000263451:N547K;ENSP00000410294:N550K;ENSP00000309878:N547K;ENSP00000353262:N461K;ENSP00000358052:N550K;ENSP00000358054:N550K;ENSP00000337665:N458K	ENSP00000337665:N458K	N	-	3	2	FGFR2	123248024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.247000	0.32815	0.269000	0.21961	0.482000	0.46254	AAT	FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000066468		0.423	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	456	0.00	0	A	NM_022976, NM_000141		123258034	123258034	-1	no_errors	ENST00000457416	ensembl	human	known	69_37n	missense	156	35.00	84	SNP	1.000	T
FGFR2	2263	genome.wustl.edu	37	10	123258034	123258034	+	Missense_Mutation	SNP	A	A	T	rs121913476		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr10:123258034A>T	ENST00000358487.5	-	12	1919	c.1647T>A	c.(1645-1647)aaT>aaA	p.N549K	FGFR2_ENST00000357555.5_Missense_Mutation_p.N460K|FGFR2_ENST00000369056.1_Missense_Mutation_p.N550K|FGFR2_ENST00000346997.2_Missense_Mutation_p.N547K|FGFR2_ENST00000478859.1_Missense_Mutation_p.N321K|FGFR2_ENST00000369060.4_Missense_Mutation_p.N433K|FGFR2_ENST00000369061.4_Missense_Mutation_p.N437K|FGFR2_ENST00000457416.2_Missense_Mutation_p.N550K|FGFR2_ENST00000351936.6_Missense_Mutation_p.N547K|FGFR2_ENST00000356226.4_Missense_Mutation_p.N432K|FGFR2_ENST00000360144.3_Missense_Mutation_p.N461K|FGFR2_ENST00000369059.1_Missense_Mutation_p.N435K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> H (in CS; constitutive kinase activity). {ECO:0000269|PubMed:11781872}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.N549K(21)|p.N547K(4)|p.N460K(4)|p.N550K(4)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CTCCAAGAAGATTTATGATAT	0.423	N549K(AN3CA_ENDOMETRIUM)|N549K(MFE296_ENDOMETRIUM)	5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													dbGAP		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	33	Substitution - Missense(33)	endometrium(33)											169.0	151.0	157.0					10																	123258034		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1647T>A	10.37:g.123258034A>T	ENSP00000351276:p.Asn549Lys		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N550K	ENST00000358487.5	37	c.1650	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713491	0.68730	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.02	2.67	0.31697	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87382	0.6163	N	0.04880	-0.145	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.999;1.0;1.0;1.0;0.999;1.0;1.0	D	0.85769	0.1354	10	0.87932	D	0	.	7.515	0.27596	0.7605:0.0:0.2395:0.0	.	566;548;460;432;549;461;550;452	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	K	460;550;437;549;432;433;435;141;547;550;547;461;550;550;458	ENSP00000350166:N460K;ENSP00000358057:N437K;ENSP00000351276:N549K;ENSP00000348559:N432K;ENSP00000358056:N433K;ENSP00000358055:N435K;ENSP00000404219:N141K;ENSP00000263451:N547K;ENSP00000410294:N550K;ENSP00000309878:N547K;ENSP00000353262:N461K;ENSP00000358052:N550K;ENSP00000358054:N550K;ENSP00000337665:N458K	ENSP00000337665:N458K	N	-	3	2	FGFR2	123248024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.247000	0.32815	0.269000	0.21961	0.482000	0.46254	AAT	FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000066468		0.423	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	463	0.00	0	A	NM_022976, NM_000141		123258034	123258034	-1	no_errors	ENST00000457416	ensembl	human	known	69_37n	missense	156	35.00	84	SNP	1.000	T
FMN2	56776	genome.wustl.edu	37	1	240370374	240370374	+	Silent	SNP	G	G	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr1:240370374G>A	ENST00000319653.9	+	5	2492	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	754					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGGCGGGGTGCTGACACTGC	0.537																																						dbGAP											0													44.0	42.0	43.0					1																	240370374		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2262G>A	1.37:g.240370374G>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.V754	ENST00000319653.9	37	c.2262	CCDS31069.2	1																																																																																			FMN2	-	NULL	ENSG00000155816		0.537	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	48	0.00	0	G	XM_371352		240370374	240370374	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	silent	48	15.79	9	SNP	0.000	A
FMN2	56776	genome.wustl.edu	37	1	240370374	240370374	+	Silent	SNP	G	G	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr1:240370374G>A	ENST00000319653.9	+	5	2492	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	754					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGGCGGGGTGCTGACACTGC	0.537																																						dbGAP											0													44.0	42.0	43.0					1																	240370374		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2262G>A	1.37:g.240370374G>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.V754	ENST00000319653.9	37	c.2262	CCDS31069.2	1																																																																																			FMN2	-	NULL	ENSG00000155816		0.537	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	63	0.00	0	G	XM_371352		240370374	240370374	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	silent	48	15.79	9	SNP	0.000	A
FN1	2335	genome.wustl.edu	37	2	216288147	216288147	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr2:216288147C>A	ENST00000359671.1	-	9	1584	c.1319G>T	c.(1318-1320)aGa>aTa	p.R440I	FN1_ENST00000443816.1_Missense_Mutation_p.R440I|FN1_ENST00000354785.4_Missense_Mutation_p.R440I|FN1_ENST00000356005.4_Missense_Mutation_p.R440I|FN1_ENST00000357009.2_Missense_Mutation_p.R440I|FN1_ENST00000323926.6_Missense_Mutation_p.R440I|FN1_ENST00000432072.2_Missense_Mutation_p.R440I|FN1_ENST00000426059.1_Missense_Mutation_p.R440I|FN1_ENST00000336916.4_Missense_Mutation_p.R440I|FN1_ENST00000346544.3_Missense_Mutation_p.R440I|FN1_ENST00000421182.1_Missense_Mutation_p.R440I|FN1_ENST00000345488.5_Missense_Mutation_p.R440I|FN1_ENST00000357867.4_Missense_Mutation_p.R440I|FN1_ENST00000446046.1_Missense_Mutation_p.R440I			P02751	FINC_HUMAN	fibronectin 1	440	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CATGTTGTCTCTTCTGCCCTC	0.498																																						dbGAP											0													150.0	131.0	137.0					2																	216288147		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1319G>T	2.37:g.216288147C>A	ENSP00000352696:p.Arg440Ile		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.R440I	ENST00000359671.1	37	c.1319		2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017500	0.93404	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	T	0.64571	0.2610	L	0.43923	1.385	0.80722	D	1	P;D;P;P;D;D;D;D;D;D;D	0.76494	0.906;0.993;0.903;0.91;0.997;0.998;0.999;0.997;0.997;0.997;0.988	P;D;P;B;P;D;D;D;P;P;D	0.72625	0.742;0.963;0.648;0.311;0.887;0.932;0.929;0.978;0.887;0.887;0.972	T	0.63359	-0.6655	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	440;440;440;440;440;440;440;440;440;440;440	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	I	440	ENSP00000394423:R440I;ENSP00000323534:R440I;ENSP00000338200:R440I;ENSP00000350534:R440I;ENSP00000346839:R440I;ENSP00000352696:R440I;ENSP00000265312:R440I;ENSP00000273049:R440I;ENSP00000349509:R440I;ENSP00000410422:R440I;ENSP00000415018:R440I;ENSP00000399538:R440I;ENSP00000348285:R440I;ENSP00000398907:R440I	ENSP00000265313:R440I	R	-	2	0	FN1	215996392	0.714000	0.27936	0.993000	0.49108	0.969000	0.65631	3.916000	0.56416	2.882000	0.98803	0.655000	0.94253	AGA	FN1	-	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000115414		0.498	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		261	0.00	0	C	NM_212476		216288147	216288147	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	missense	85	43.33	65	SNP	0.999	A
GCN1L1	10985	genome.wustl.edu	37	12	120602272	120602272	+	Silent	SNP	C	C	A	rs372774785		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr12:120602272C>A	ENST00000300648.6	-	18	1728	c.1716G>T	c.(1714-1716)gtG>gtT	p.V572V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	572					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTCAGGAGCACCGCCACCA	0.642																																						dbGAP											0													42.0	47.0	46.0					12																	120602272		1984	4151	6135	-	-	-	SO:0001819	synonymous_variant	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1716G>T	12.37:g.120602272C>A			A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V572	ENST00000300648.6	37	c.1716	CCDS41847.1	12																																																																																			GCN1L1	-	pfam_DUF3554,superfamily_ARM-type_fold	ENSG00000089154		0.642	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	38	0.00	0	C			120602272	120602272	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	silent	27	40.00	18	SNP	0.963	A
GCN1L1	10985	genome.wustl.edu	37	12	120602272	120602272	+	Silent	SNP	C	C	A	rs372774785		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr12:120602272C>A	ENST00000300648.6	-	18	1728	c.1716G>T	c.(1714-1716)gtG>gtT	p.V572V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	572					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTCAGGAGCACCGCCACCA	0.642																																						dbGAP											0													42.0	47.0	46.0					12																	120602272		1984	4151	6135	-	-	-	SO:0001819	synonymous_variant	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1716G>T	12.37:g.120602272C>A			A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V572	ENST00000300648.6	37	c.1716	CCDS41847.1	12																																																																																			GCN1L1	-	pfam_DUF3554,superfamily_ARM-type_fold	ENSG00000089154		0.642	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	56	0.00	0	C			120602272	120602272	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	silent	27	40.00	18	SNP	0.963	A
IPO13	9670	genome.wustl.edu	37	1	44426575	44426575	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr1:44426575G>T	ENST00000372343.3	+	13	2799	c.2137G>T	c.(2137-2139)Gtt>Ttt	p.V713F		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	713					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGAAGTCTGTTAAGACGCT	0.577																																						dbGAP											0													145.0	124.0	131.0					1																	44426575		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2137G>T	1.37:g.44426575G>T	ENSP00000361418:p.Val713Phe		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.V713F	ENST00000372343.3	37	c.2137	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820524	0.90873	.	.	ENSG00000117408	ENST00000372343	T	0.68624	-0.34	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	L	0.56769	1.78	0.80722	D	1	P	0.42649	0.786	B	0.36244	0.22	T	0.60464	-0.7258	10	0.17832	T	0.49	-17.477	19.6787	0.95950	0.0:0.0:1.0:0.0	.	713	O94829	IPO13_HUMAN	F	713	ENSP00000361418:V713F	ENSP00000361418:V713F	V	+	1	0	IPO13	44199162	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	9.523000	0.98034	2.884000	0.98904	0.655000	0.94253	GTT	IPO13	-	superfamily_ARM-type_fold	ENSG00000117408		0.577	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	89	0.00	0	G	NM_014652		44426575	44426575	+1	no_errors	ENST00000372343	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	1.000	T
IPO13	9670	genome.wustl.edu	37	1	44426575	44426575	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr1:44426575G>T	ENST00000372343.3	+	13	2799	c.2137G>T	c.(2137-2139)Gtt>Ttt	p.V713F		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	713					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGAAGTCTGTTAAGACGCT	0.577																																						dbGAP											0													145.0	124.0	131.0					1																	44426575		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2137G>T	1.37:g.44426575G>T	ENSP00000361418:p.Val713Phe		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.V713F	ENST00000372343.3	37	c.2137	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820524	0.90873	.	.	ENSG00000117408	ENST00000372343	T	0.68624	-0.34	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	L	0.56769	1.78	0.80722	D	1	P	0.42649	0.786	B	0.36244	0.22	T	0.60464	-0.7258	10	0.17832	T	0.49	-17.477	19.6787	0.95950	0.0:0.0:1.0:0.0	.	713	O94829	IPO13_HUMAN	F	713	ENSP00000361418:V713F	ENSP00000361418:V713F	V	+	1	0	IPO13	44199162	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	9.523000	0.98034	2.884000	0.98904	0.655000	0.94253	GTT	IPO13	-	superfamily_ARM-type_fold	ENSG00000117408		0.577	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	121	0.00	0	G	NM_014652		44426575	44426575	+1	no_errors	ENST00000372343	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	1.000	T
KRT82	3888	genome.wustl.edu	37	12	52797575	52797575	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr12:52797575C>T	ENST00000257974.2	-	2	607	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	177	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CAGCTGCCGCCGAAGGGCGCT	0.582																																						dbGAP											0													59.0	62.0	61.0					12																	52797575		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.530G>A	12.37:g.52797575C>T	ENSP00000257974:p.Arg177Gln			Missense_Mutation	SNP	pfam_F,prints_Keratin_II,prints_Keratin_I	p.R177Q	ENST00000257974.2	37	c.530	CCDS8826.1	12	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341104	0.60963	.	.	ENSG00000161850	ENST00000257974	D	0.92595	-3.07	5.14	3.28	0.37604	Filament (1);	0.000000	0.47455	D	0.000239	D	0.90130	0.6916	M	0.75447	2.3	0.33500	D	0.589816	B	0.34214	0.442	B	0.30029	0.11	D	0.92873	0.6316	10	0.62326	D	0.03	.	12.5514	0.56229	0.0:0.8548:0.0:0.1452	.	177	Q9NSB4	KRT82_HUMAN	Q	177	ENSP00000257974:R177Q	ENSP00000257974:R177Q	R	-	2	0	KRT82	51083842	0.046000	0.20272	0.713000	0.30519	0.403000	0.30841	2.536000	0.45693	1.310000	0.45006	0.462000	0.41574	CGG	KRT82	-	pfam_F	ENSG00000161850		0.582	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	HGNC	protein_coding	OTTHUMT00000405189.1	21	0.00	0	C	NM_033033		52797575	52797575	-1	no_errors	ENST00000257974	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	T
KRT82	3888	genome.wustl.edu	37	12	52797575	52797575	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr12:52797575C>T	ENST00000257974.2	-	2	607	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	177	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CAGCTGCCGCCGAAGGGCGCT	0.582																																						dbGAP											0													59.0	62.0	61.0					12																	52797575		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.530G>A	12.37:g.52797575C>T	ENSP00000257974:p.Arg177Gln			Missense_Mutation	SNP	pfam_F,prints_Keratin_II,prints_Keratin_I	p.R177Q	ENST00000257974.2	37	c.530	CCDS8826.1	12	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341104	0.60963	.	.	ENSG00000161850	ENST00000257974	D	0.92595	-3.07	5.14	3.28	0.37604	Filament (1);	0.000000	0.47455	D	0.000239	D	0.90130	0.6916	M	0.75447	2.3	0.33500	D	0.589816	B	0.34214	0.442	B	0.30029	0.11	D	0.92873	0.6316	10	0.62326	D	0.03	.	12.5514	0.56229	0.0:0.8548:0.0:0.1452	.	177	Q9NSB4	KRT82_HUMAN	Q	177	ENSP00000257974:R177Q	ENSP00000257974:R177Q	R	-	2	0	KRT82	51083842	0.046000	0.20272	0.713000	0.30519	0.403000	0.30841	2.536000	0.45693	1.310000	0.45006	0.462000	0.41574	CGG	KRT82	-	pfam_F	ENSG00000161850		0.582	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	HGNC	protein_coding	OTTHUMT00000405189.1	37	0.00	0	C	NM_033033		52797575	52797575	-1	no_errors	ENST00000257974	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	T
L3MBTL3	84456	genome.wustl.edu	37	6	130407393	130407393	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr6:130407393A>G	ENST00000529410.1	+	18	1995	c.1516A>G	c.(1516-1518)Aaa>Gaa	p.K506E	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.K506E|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.K481E|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.K481E|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.K481E|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.K506E			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	506					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCACCGGGTAAAAGTAAGTGT	0.373																																						dbGAP											0													192.0	216.0	208.0					6																	130407393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1516A>G	6.37:g.130407393A>G	ENSP00000431962:p.Lys506Glu		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.K506E	ENST00000529410.1	37	c.1516	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887418	0.72410	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.36	5.36	0.76844	.	0.096318	0.64402	D	0.000001	T	0.50326	0.1609	M	0.78637	2.42	0.53688	D	0.999979	D;D	0.69078	0.997;0.981	P;P	0.57548	0.8;0.823	T	0.58769	-0.7578	10	0.66056	D	0.02	.	12.8807	0.58015	1.0:0.0:0.0:0.0	.	481;506	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	E	506;481;506;481;481;506	ENSP00000431962:K506E;ENSP00000437185:K481E;ENSP00000354526:K506E;ENSP00000357121:K481E;ENSP00000436706:K481E;ENSP00000357118:K506E	ENSP00000354526:K506E	K	+	1	0	L3MBTL3	130449086	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	8.120000	0.89581	2.044000	0.60594	0.455000	0.32223	AAA	L3MBTL3	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000198945		0.373	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	284	0.00	0	A	XM_027074		130407393	130407393	+1	no_errors	ENST00000361794	ensembl	human	known	69_37n	missense	102	42.70	76	SNP	1.000	G
LGALS4	3960	genome.wustl.edu	37	19	39292540	39292540	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr19:39292540C>T	ENST00000307751.4	-	10	1313	c.836G>A	c.(835-837)cGc>cAc	p.R279H		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	279	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAAGCCACAGCGAATGGACAG	0.562																																						dbGAP											0													94.0	84.0	88.0					19																	39292540		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.836G>A	19.37:g.39292540C>T	ENSP00000302100:p.Arg279His			Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.R279H	ENST00000307751.4	37	c.836	CCDS12521.1	19	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193202	0.78902	.	.	ENSG00000171747	ENST00000307751	T	0.11821	2.74	5.14	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.181349	0.48286	N	0.000194	T	0.31734	0.0806	M	0.70842	2.15	0.47094	D	0.999311	D	0.89917	1.0	D	0.77557	0.99	T	0.09997	-1.0649	10	0.16420	T	0.52	-21.1339	12.3008	0.54874	0.0:0.9153:0.0:0.0847	.	279	P56470	LEG4_HUMAN	H	279	ENSP00000302100:R279H	ENSP00000302100:R279H	R	-	2	0	LGALS4	43984380	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	1.873000	0.39558	1.156000	0.42514	0.491000	0.48974	CGC	LGALS4	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000171747		0.562	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS4	HGNC	protein_coding	OTTHUMT00000462641.1	93	0.00	0	C	NM_006149		39292540	39292540	-1	no_errors	ENST00000307751	ensembl	human	known	69_37n	missense	40	29.82	17	SNP	1.000	T
LGALS4	3960	genome.wustl.edu	37	19	39292540	39292540	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr19:39292540C>T	ENST00000307751.4	-	10	1313	c.836G>A	c.(835-837)cGc>cAc	p.R279H		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	279	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAAGCCACAGCGAATGGACAG	0.562																																						dbGAP											0													94.0	84.0	88.0					19																	39292540		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.836G>A	19.37:g.39292540C>T	ENSP00000302100:p.Arg279His			Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.R279H	ENST00000307751.4	37	c.836	CCDS12521.1	19	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193202	0.78902	.	.	ENSG00000171747	ENST00000307751	T	0.11821	2.74	5.14	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.181349	0.48286	N	0.000194	T	0.31734	0.0806	M	0.70842	2.15	0.47094	D	0.999311	D	0.89917	1.0	D	0.77557	0.99	T	0.09997	-1.0649	10	0.16420	T	0.52	-21.1339	12.3008	0.54874	0.0:0.9153:0.0:0.0847	.	279	P56470	LEG4_HUMAN	H	279	ENSP00000302100:R279H	ENSP00000302100:R279H	R	-	2	0	LGALS4	43984380	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	1.873000	0.39558	1.156000	0.42514	0.491000	0.48974	CGC	LGALS4	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000171747		0.562	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS4	HGNC	protein_coding	OTTHUMT00000462641.1	116	0.00	0	C	NM_006149		39292540	39292540	-1	no_errors	ENST00000307751	ensembl	human	known	69_37n	missense	40	29.82	17	SNP	1.000	T
MAGI1	9223	genome.wustl.edu	37	3	65346921	65346921	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr3:65346921C>T	ENST00000497477.2	-	21	3385	c.3386G>A	c.(3385-3387)aGa>aAa	p.R1129K	MAGI1_ENST00000402939.2_Missense_Mutation_p.R1196K|MAGI1_ENST00000330909.8_Missense_Mutation_p.R1224K|RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000483466.1_Missense_Mutation_p.R1225K			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1225	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CAGACGAACTCTGCGGCCACC	0.443																																						dbGAP											0													141.0	130.0	134.0					3																	65346921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3386G>A	3.37:g.65346921C>T	ENSP00000424369:p.Arg1129Lys		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1196K	ENST00000497477.2	37	c.3587		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.83|11.83	1.756396|1.756396	0.31137|0.31137	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.23147	.|1.92;1.92;1.92;1.92;1.92;1.92	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.047700	.|0.85682	.|D	.|0.000000	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.02665|0.02665	-0.54|-0.54	0.47905|0.47905	D|D	0.99954|0.99954	.|B;B;B;B	.|0.13594	.|0.002;0.002;0.008;0.004	.|B;B;B;B	.|0.22601	.|0.04;0.004;0.018;0.011	T|T	0.28586|0.28586	-1.0039|-1.0039	5|10	.|0.12430	.|T	.|0.62	-26.8987|-26.8987	12.7298|12.7298	0.57191|0.57191	0.0:0.8829:0.0:0.1171|0.0:0.8829:0.0:0.1171	.|.	.|1129;1225;1196;1224	.|Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.	K|K	1105|1196;1224;1120;1100;1225;1129;983	.|ENSP00000385450:R1196K;ENSP00000331157:R1224K;ENSP00000418177:R1100K;ENSP00000420323:R1225K;ENSP00000424369:R1129K;ENSP00000420796:R983K	.|ENSP00000331157:R1224K	E|R	-|-	1|2	0|0	MAGI1|MAGI1	65321961|65321961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.065000|4.065000	0.57513|0.57513	2.717000|2.717000	0.92951|0.92951	0.650000|0.650000	0.86243|0.86243	GAG|AGA	MAGI1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000151276		0.443	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	271	0.37	1	C	NM_004742		65346921	65346921	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	100	33.55	51	SNP	1.000	T
MAGI1	9223	genome.wustl.edu	37	3	65346921	65346921	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr3:65346921C>T	ENST00000497477.2	-	21	3385	c.3386G>A	c.(3385-3387)aGa>aAa	p.R1129K	MAGI1_ENST00000402939.2_Missense_Mutation_p.R1196K|MAGI1_ENST00000330909.8_Missense_Mutation_p.R1224K|RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000483466.1_Missense_Mutation_p.R1225K			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1225	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CAGACGAACTCTGCGGCCACC	0.443																																						dbGAP											0													141.0	130.0	134.0					3																	65346921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3386G>A	3.37:g.65346921C>T	ENSP00000424369:p.Arg1129Lys		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1196K	ENST00000497477.2	37	c.3587		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.83|11.83	1.756396|1.756396	0.31137|0.31137	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.23147	.|1.92;1.92;1.92;1.92;1.92;1.92	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.047700	.|0.85682	.|D	.|0.000000	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.02665|0.02665	-0.54|-0.54	0.47905|0.47905	D|D	0.99954|0.99954	.|B;B;B;B	.|0.13594	.|0.002;0.002;0.008;0.004	.|B;B;B;B	.|0.22601	.|0.04;0.004;0.018;0.011	T|T	0.28586|0.28586	-1.0039|-1.0039	5|10	.|0.12430	.|T	.|0.62	-26.8987|-26.8987	12.7298|12.7298	0.57191|0.57191	0.0:0.8829:0.0:0.1171|0.0:0.8829:0.0:0.1171	.|.	.|1129;1225;1196;1224	.|Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.	K|K	1105|1196;1224;1120;1100;1225;1129;983	.|ENSP00000385450:R1196K;ENSP00000331157:R1224K;ENSP00000418177:R1100K;ENSP00000420323:R1225K;ENSP00000424369:R1129K;ENSP00000420796:R983K	.|ENSP00000331157:R1224K	E|R	-|-	1|2	0|0	MAGI1|MAGI1	65321961|65321961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.065000|4.065000	0.57513|0.57513	2.717000|2.717000	0.92951|0.92951	0.650000|0.650000	0.86243|0.86243	GAG|AGA	MAGI1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000151276		0.443	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	277	0.00	0	C	NM_004742		65346921	65346921	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	100	33.55	51	SNP	1.000	T
MAZ	4150	genome.wustl.edu	37	16	29821425	29821425	+	Missense_Mutation	SNP	C	C	T	rs530039776|rs370462022	byFrequency	TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr16:29821425C>T	ENST00000322945.6	+	5	1472	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V	AC009133.20_ENST00000569039.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000562337.1_Missense_Mutation_p.A131V|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568544.1_Missense_Mutation_p.A37V|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Missense_Mutation_p.A413V|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000566906.2_Intron|PRRT2_ENST00000358758.7_5'Flank|PRRT2_ENST00000567659.1_5'Flank	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	436	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CCAATggcggcggcagcggca	0.667																																					Colon(72;875 1167 15364 30899 37091)	dbGAP											0													23.0	29.0	27.0					16																	29821425		2127	4221	6348	-	-	-	SO:0001583	missense	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1307C>T	16.37:g.29821425C>T	ENSP00000313362:p.Ala436Val		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A436V	ENST00000322945.6	37	c.1307	CCDS42143.1	16	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485146	0.26598	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000544343	T;T	0.10288	2.96;2.89	3.89	3.89	0.44902	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.80722	D	1	P;D;P	0.76494	0.663;0.999;0.663	B;D;B	0.71184	0.082;0.972;0.082	T	0.29731	-1.0002	9	0.26408	T	0.33	.	11.5853	0.50914	0.0:1.0:0.0:0.0	.	413;211;436	C6G496;F5H7A6;P56270	.;.;MAZ_HUMAN	V	413;436;211	ENSP00000443956:A413V;ENSP00000313362:A436V	ENSP00000313362:A436V	A	+	2	0	MAZ	29728926	0.306000	0.24490	0.877000	0.34402	0.127000	0.20565	0.972000	0.29409	2.189000	0.69895	0.455000	0.32223	GCG	MAZ	-	NULL	ENSG00000103495		0.667	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	9	0.00	0	C	NM_002383		29821425	29821425	+1	no_errors	ENST00000322945	ensembl	human	known	69_37n	missense	11	64.52	20	SNP	0.930	T
MAZ	4150	genome.wustl.edu	37	16	29821425	29821425	+	Missense_Mutation	SNP	C	C	T	rs530039776|rs370462022	byFrequency	TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr16:29821425C>T	ENST00000322945.6	+	5	1472	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V	AC009133.20_ENST00000569039.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000562337.1_Missense_Mutation_p.A131V|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568544.1_Missense_Mutation_p.A37V|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Missense_Mutation_p.A413V|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000566906.2_Intron|PRRT2_ENST00000358758.7_5'Flank|PRRT2_ENST00000567659.1_5'Flank	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	436	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CCAATggcggcggcagcggca	0.667																																					Colon(72;875 1167 15364 30899 37091)	dbGAP											0													23.0	29.0	27.0					16																	29821425		2127	4221	6348	-	-	-	SO:0001583	missense	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1307C>T	16.37:g.29821425C>T	ENSP00000313362:p.Ala436Val		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A436V	ENST00000322945.6	37	c.1307	CCDS42143.1	16	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485146	0.26598	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000544343	T;T	0.10288	2.96;2.89	3.89	3.89	0.44902	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.80722	D	1	P;D;P	0.76494	0.663;0.999;0.663	B;D;B	0.71184	0.082;0.972;0.082	T	0.29731	-1.0002	9	0.26408	T	0.33	.	11.5853	0.50914	0.0:1.0:0.0:0.0	.	413;211;436	C6G496;F5H7A6;P56270	.;.;MAZ_HUMAN	V	413;436;211	ENSP00000443956:A413V;ENSP00000313362:A436V	ENSP00000313362:A436V	A	+	2	0	MAZ	29728926	0.306000	0.24490	0.877000	0.34402	0.127000	0.20565	0.972000	0.29409	2.189000	0.69895	0.455000	0.32223	GCG	MAZ	-	NULL	ENSG00000103495		0.667	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	23	0.00	0	C	NM_002383		29821425	29821425	+1	no_errors	ENST00000322945	ensembl	human	known	69_37n	missense	11	64.52	20	SNP	0.930	T
MBD1	4152	genome.wustl.edu	37	18	47802228	47802228	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr18:47802228G>A	ENST00000591416.1	-	7	1071	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	MBD1_ENST00000457839.2_Missense_Mutation_p.R214C|MBD1_ENST00000349085.2_Missense_Mutation_p.R214C|MBD1_ENST00000382948.5_Missense_Mutation_p.R214C|MBD1_ENST00000339998.6_Missense_Mutation_p.R214C|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000585595.1_Missense_Mutation_p.R214C|MBD1_ENST00000347968.3_Missense_Mutation_p.R214C|MBD1_ENST00000398488.1_Missense_Mutation_p.R214C|MBD1_ENST00000398493.1_Missense_Mutation_p.R214C|MBD1_ENST00000398495.2_Missense_Mutation_p.R214C|MBD1_ENST00000424334.2_Missense_Mutation_p.R240C|MBD1_ENST00000587605.1_Missense_Mutation_p.R214C|MBD1_ENST00000269471.5_Missense_Mutation_p.R214C|MBD1_ENST00000436910.1_Missense_Mutation_p.R214C|MBD1_ENST00000588937.1_Missense_Mutation_p.R214C|MBD1_ENST00000590208.1_Missense_Mutation_p.R214C|MBD1_ENST00000269468.5_Missense_Mutation_p.R214C|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000591535.1_Missense_Mutation_p.R214C			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	214					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CGGAGGCAGCGTCTCCGTTCA	0.627																																						dbGAP											0													108.0	97.0	101.0					18																	47802228		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.640C>T	18.37:g.47802228G>A	ENSP00000467017:p.Arg214Cys		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.R240C	ENST00000591416.1	37	c.718	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412537	0.62511	.	.	ENSG00000141644	ENST00000382948;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.96619	-4.07;-3.96;-4.07;-3.97;-4.01;-4.0;-4.07;-4.04;-4.01;-4.04;-3.97;-3.96	4.53	3.58	0.41010	Zinc finger, CXXC-type (2);	0.000000	0.53938	D	0.000059	D	0.96815	0.8960	L	0.52573	1.65	0.41643	D	0.989085	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.996;0.998;0.997;0.997;0.995;0.998;0.999	D	0.96490	0.9363	10	0.87932	D	0	-16.9469	11.8121	0.52189	0.0:0.0:0.8244:0.1756	.	214;240;214;214;214;214;214;214;214	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-4;Q9UIS9;Q9UIS9-7	.;.;.;.;.;.;.;MBD1_HUMAN;.	C	214;214;214;214;214;214;240;214;214;214;214;214	ENSP00000372407:R214C;ENSP00000342531:R214C;ENSP00000269468:R214C;ENSP00000285102:R214C;ENSP00000409561:R214C;ENSP00000269471:R214C;ENSP00000408846:R240C;ENSP00000339546:R214C;ENSP00000381508:R214C;ENSP00000405268:R214C;ENSP00000381506:R214C;ENSP00000381502:R214C	ENSP00000269468:R214C	R	-	1	0	MBD1	46056226	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.051000	0.49885	2.499000	0.84300	0.655000	0.94253	CGC	MBD1	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000141644		0.627	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3	100	0.00	0	G	NM_015846		47802228	47802228	-1	no_errors	ENST00000424334	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	1.000	A
MBD1	4152	genome.wustl.edu	37	18	47802228	47802228	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr18:47802228G>A	ENST00000591416.1	-	7	1071	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	MBD1_ENST00000457839.2_Missense_Mutation_p.R214C|MBD1_ENST00000349085.2_Missense_Mutation_p.R214C|MBD1_ENST00000382948.5_Missense_Mutation_p.R214C|MBD1_ENST00000339998.6_Missense_Mutation_p.R214C|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000585595.1_Missense_Mutation_p.R214C|MBD1_ENST00000347968.3_Missense_Mutation_p.R214C|MBD1_ENST00000398488.1_Missense_Mutation_p.R214C|MBD1_ENST00000398493.1_Missense_Mutation_p.R214C|MBD1_ENST00000398495.2_Missense_Mutation_p.R214C|MBD1_ENST00000424334.2_Missense_Mutation_p.R240C|MBD1_ENST00000587605.1_Missense_Mutation_p.R214C|MBD1_ENST00000269471.5_Missense_Mutation_p.R214C|MBD1_ENST00000436910.1_Missense_Mutation_p.R214C|MBD1_ENST00000588937.1_Missense_Mutation_p.R214C|MBD1_ENST00000590208.1_Missense_Mutation_p.R214C|MBD1_ENST00000269468.5_Missense_Mutation_p.R214C|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000591535.1_Missense_Mutation_p.R214C			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	214					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CGGAGGCAGCGTCTCCGTTCA	0.627																																						dbGAP											0													108.0	97.0	101.0					18																	47802228		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.640C>T	18.37:g.47802228G>A	ENSP00000467017:p.Arg214Cys		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.R240C	ENST00000591416.1	37	c.718	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412537	0.62511	.	.	ENSG00000141644	ENST00000382948;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.96619	-4.07;-3.96;-4.07;-3.97;-4.01;-4.0;-4.07;-4.04;-4.01;-4.04;-3.97;-3.96	4.53	3.58	0.41010	Zinc finger, CXXC-type (2);	0.000000	0.53938	D	0.000059	D	0.96815	0.8960	L	0.52573	1.65	0.41643	D	0.989085	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.996;0.998;0.997;0.997;0.995;0.998;0.999	D	0.96490	0.9363	10	0.87932	D	0	-16.9469	11.8121	0.52189	0.0:0.0:0.8244:0.1756	.	214;240;214;214;214;214;214;214;214	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-4;Q9UIS9;Q9UIS9-7	.;.;.;.;.;.;.;MBD1_HUMAN;.	C	214;214;214;214;214;214;240;214;214;214;214;214	ENSP00000372407:R214C;ENSP00000342531:R214C;ENSP00000269468:R214C;ENSP00000285102:R214C;ENSP00000409561:R214C;ENSP00000269471:R214C;ENSP00000408846:R240C;ENSP00000339546:R214C;ENSP00000381508:R214C;ENSP00000405268:R214C;ENSP00000381506:R214C;ENSP00000381502:R214C	ENSP00000269468:R214C	R	-	1	0	MBD1	46056226	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.051000	0.49885	2.499000	0.84300	0.655000	0.94253	CGC	MBD1	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000141644		0.627	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3	184	0.00	0	G	NM_015846		47802228	47802228	-1	no_errors	ENST00000424334	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	1.000	A
MLIP	90523	genome.wustl.edu	37	6	53883886	53883886	+	Silent	SNP	G	G	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr6:53883886G>T	ENST00000274897.5	+	1	173	c.60G>T	c.(58-60)ctG>ctT	p.L20L	MLIP_ENST00000370877.2_Silent_p.L20L|MLIP_ENST00000509997.1_Silent_p.L20L|MLIP_ENST00000514921.1_Silent_p.L20L	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	20	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGAGAAACTGACGGTAAGAC	0.378																																						dbGAP											0													72.0	75.0	74.0					6																	53883886		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.60G>T	6.37:g.53883886G>T			B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	NULL	p.L20	ENST00000274897.5	37	c.60	CCDS4954.1	6																																																																																			MLIP	-	NULL	ENSG00000146147		0.378	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	320	0.62	2	G	NM_138569		53883886	53883886	+1	no_errors	ENST00000274897	ensembl	human	known	69_37n	silent	90	38.36	56	SNP	0.793	T
MLIP	90523	genome.wustl.edu	37	6	53883886	53883886	+	Silent	SNP	G	G	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr6:53883886G>T	ENST00000274897.5	+	1	173	c.60G>T	c.(58-60)ctG>ctT	p.L20L	MLIP_ENST00000370877.2_Silent_p.L20L|MLIP_ENST00000509997.1_Silent_p.L20L|MLIP_ENST00000514921.1_Silent_p.L20L	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	20	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGAGAAACTGACGGTAAGAC	0.378																																						dbGAP											0													72.0	75.0	74.0					6																	53883886		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.60G>T	6.37:g.53883886G>T			B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	NULL	p.L20	ENST00000274897.5	37	c.60	CCDS4954.1	6																																																																																			MLIP	-	NULL	ENSG00000146147		0.378	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	200	0.00	0	G	NM_138569		53883886	53883886	+1	no_errors	ENST00000274897	ensembl	human	known	69_37n	silent	90	38.36	56	SNP	0.793	T
MUC12	10071	genome.wustl.edu	37	7	100641723	100641723	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr7:100641723C>T	ENST00000379442.3	+	5	8308	c.8308C>T	c.(8308-8310)Cgt>Tgt	p.R2770C	MUC12_ENST00000536621.1_Missense_Mutation_p.R2627C			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2770	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AACCTCAGGTCGTGGAGAATC	0.517																																						dbGAP											0													1.0	1.0	1.0					7																	100641723		165	441	606	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.8308C>T	7.37:g.100641723C>T	ENSP00000368755:p.Arg2770Cys		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R2770C	ENST00000379442.3	37	c.8308		7	.	.	.	.	.	.	.	.	.	.	c	4.916	0.170193	0.09339	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13901	2.55;2.55	0.646	-0.671	0.11381	.	.	.	.	.	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.36359	-0.9751	6	0.56958	D	0.05	.	.	.	.	.	.	.	.	C	2770;2627	ENSP00000368755:R2770C;ENSP00000441929:R2627C	ENSP00000368755:R2770C	R	+	1	0	MUC12	100428443	0.002000	0.14202	0.000000	0.03702	0.072000	0.16883	1.093000	0.30939	-0.233000	0.09797	0.089000	0.15464	CGT	MUC12	-	NULL	ENSG00000205277		0.517	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	79	0.00	0	C	XM_379904		100641723	100641723	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100641723	100641723	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr7:100641723C>T	ENST00000379442.3	+	5	8308	c.8308C>T	c.(8308-8310)Cgt>Tgt	p.R2770C	MUC12_ENST00000536621.1_Missense_Mutation_p.R2627C			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2770	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AACCTCAGGTCGTGGAGAATC	0.517																																						dbGAP											0													1.0	1.0	1.0					7																	100641723		165	441	606	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.8308C>T	7.37:g.100641723C>T	ENSP00000368755:p.Arg2770Cys		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R2770C	ENST00000379442.3	37	c.8308		7	.	.	.	.	.	.	.	.	.	.	c	4.916	0.170193	0.09339	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13901	2.55;2.55	0.646	-0.671	0.11381	.	.	.	.	.	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.36359	-0.9751	6	0.56958	D	0.05	.	.	.	.	.	.	.	.	C	2770;2627	ENSP00000368755:R2770C;ENSP00000441929:R2627C	ENSP00000368755:R2770C	R	+	1	0	MUC12	100428443	0.002000	0.14202	0.000000	0.03702	0.072000	0.16883	1.093000	0.30939	-0.233000	0.09797	0.089000	0.15464	CGT	MUC12	-	NULL	ENSG00000205277		0.517	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	108	0.00	0	C	XM_379904		100641723	100641723	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.000	T
MYH10	4628	genome.wustl.edu	37	17	8415888	8415888	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr17:8415888C>G	ENST00000269243.4	-	22	2878	c.2740G>C	c.(2740-2742)Gct>Cct	p.A914P	MYH10_ENST00000360416.3_Missense_Mutation_p.A945P|MYH10_ENST00000396239.1_Missense_Mutation_p.A935P|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_Missense_Mutation_p.A930P	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	914					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTTTAGCAGCAAGTCTTGCC	0.388																																						dbGAP											0													100.0	93.0	95.0					17																	8415888		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2740G>C	17.37:g.8415888C>G	ENSP00000269243:p.Ala914Pro		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A935P	ENST00000269243.4	37	c.2803	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575396	0.86645	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.46	5.46	0.80206	.	0.118512	0.56097	D	0.000027	D	0.86372	0.5917	M	0.85945	2.785	0.41063	D	0.985397	P;P;P	0.44690	0.712;0.81;0.841	P;P;P	0.55455	0.602;0.776;0.677	D	0.87821	0.2638	10	0.87932	D	0	.	19.5125	0.95148	0.0:1.0:0.0:0.0	.	923;945;914	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	P	914;945;935;930	ENSP00000269243:A914P;ENSP00000353590:A945P;ENSP00000379539:A935P;ENSP00000369315:A930P	ENSP00000269243:A914P	A	-	1	0	MYH10	8356613	0.994000	0.37717	0.997000	0.53966	0.998000	0.95712	3.269000	0.51592	2.840000	0.97914	0.655000	0.94253	GCT	MYH10	-	NULL	ENSG00000133026		0.388	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	240	0.00	0	C			8415888	8415888	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	83	25.23	28	SNP	1.000	G
MYH10	4628	genome.wustl.edu	37	17	8415888	8415888	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr17:8415888C>G	ENST00000269243.4	-	22	2878	c.2740G>C	c.(2740-2742)Gct>Cct	p.A914P	MYH10_ENST00000360416.3_Missense_Mutation_p.A945P|MYH10_ENST00000396239.1_Missense_Mutation_p.A935P|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_Missense_Mutation_p.A930P	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	914					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTTTAGCAGCAAGTCTTGCC	0.388																																						dbGAP											0													100.0	93.0	95.0					17																	8415888		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2740G>C	17.37:g.8415888C>G	ENSP00000269243:p.Ala914Pro		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A935P	ENST00000269243.4	37	c.2803	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575396	0.86645	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.46	5.46	0.80206	.	0.118512	0.56097	D	0.000027	D	0.86372	0.5917	M	0.85945	2.785	0.41063	D	0.985397	P;P;P	0.44690	0.712;0.81;0.841	P;P;P	0.55455	0.602;0.776;0.677	D	0.87821	0.2638	10	0.87932	D	0	.	19.5125	0.95148	0.0:1.0:0.0:0.0	.	923;945;914	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	P	914;945;935;930	ENSP00000269243:A914P;ENSP00000353590:A945P;ENSP00000379539:A935P;ENSP00000369315:A930P	ENSP00000269243:A914P	A	-	1	0	MYH10	8356613	0.994000	0.37717	0.997000	0.53966	0.998000	0.95712	3.269000	0.51592	2.840000	0.97914	0.655000	0.94253	GCT	MYH10	-	NULL	ENSG00000133026		0.388	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	205	0.00	0	C			8415888	8415888	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	83	25.23	28	SNP	1.000	G
NAALADL2	254827	genome.wustl.edu	37	3	175189546	175189546	+	Splice_Site	SNP	G	G	T	rs560066521		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr3:175189546G>T	ENST00000454872.1	+	9	1781	c.1653G>T	c.(1651-1653)gaG>gaT	p.E551D	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	551						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGGTAGTAGAGGTAAGACAAA	0.353																																						dbGAP											0													66.0	60.0	62.0					3																	175189546		1871	4103	5974	-	-	-	SO:0001630	splice_region_variant	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1653+1G>T	3.37:g.175189546G>T			Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.E551D	ENST00000454872.1	37	c.1653	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830459	0.50845	.	.	ENSG00000177694	ENST00000454872	T	0.39997	1.05	5.36	5.36	0.76844	Peptidase M28 (1);	0.372017	0.24467	N	0.038264	T	0.55194	0.1905	L	0.46670	1.46	0.28893	N	0.893736	D	0.89917	1.0	D	0.87578	0.998	T	0.49312	-0.8953	10	0.31617	T	0.26	-13.8109	12.7749	0.57441	0.0755:0.0:0.9245:0.0	.	551	Q58DX5	NADL2_HUMAN	D	551	ENSP00000404705:E551D	ENSP00000404705:E551D	E	+	3	2	NAALADL2	176672240	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	3.677000	0.54619	2.668000	0.90789	0.460000	0.39030	GAG	NAALADL2	-	NULL	ENSG00000177694		0.353	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	225	0.44	1	G	NM_207015	Missense_Mutation	175189546	175189546	+1	no_errors	ENST00000454872	ensembl	human	known	69_37n	missense	66	30.53	29	SNP	1.000	T
NAALADL2	254827	genome.wustl.edu	37	3	175189546	175189546	+	Splice_Site	SNP	G	G	T	rs560066521		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr3:175189546G>T	ENST00000454872.1	+	9	1781	c.1653G>T	c.(1651-1653)gaG>gaT	p.E551D	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	551						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGGTAGTAGAGGTAAGACAAA	0.353																																						dbGAP											0													66.0	60.0	62.0					3																	175189546		1871	4103	5974	-	-	-	SO:0001630	splice_region_variant	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1653+1G>T	3.37:g.175189546G>T			Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.E551D	ENST00000454872.1	37	c.1653	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830459	0.50845	.	.	ENSG00000177694	ENST00000454872	T	0.39997	1.05	5.36	5.36	0.76844	Peptidase M28 (1);	0.372017	0.24467	N	0.038264	T	0.55194	0.1905	L	0.46670	1.46	0.28893	N	0.893736	D	0.89917	1.0	D	0.87578	0.998	T	0.49312	-0.8953	10	0.31617	T	0.26	-13.8109	12.7749	0.57441	0.0755:0.0:0.9245:0.0	.	551	Q58DX5	NADL2_HUMAN	D	551	ENSP00000404705:E551D	ENSP00000404705:E551D	E	+	3	2	NAALADL2	176672240	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	3.677000	0.54619	2.668000	0.90789	0.460000	0.39030	GAG	NAALADL2	-	NULL	ENSG00000177694		0.353	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	138	0.00	0	G	NM_207015	Missense_Mutation	175189546	175189546	+1	no_errors	ENST00000454872	ensembl	human	known	69_37n	missense	66	30.53	29	SNP	1.000	T
NFATC4	4776	genome.wustl.edu	37	14	24845738	24845738	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr14:24845738delC	ENST00000250373.4	+	9	2436	c.2295delC	c.(2293-2295)ttcfs	p.F765fs	NFATC4_ENST00000557767.1_Frame_Shift_Del_p.F53fs|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.F778fs|NFATC4_ENST00000413692.2_Frame_Shift_Del_p.F828fs|NFATC4_ENST00000557451.1_Frame_Shift_Del_p.F695fs|NFATC4_ENST00000554661.1_Frame_Shift_Del_p.F695fs|NFATC4_ENST00000554344.1_Frame_Shift_Del_p.F695fs|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.F797fs|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.F778fs|NFATC4_ENST00000555802.1_Frame_Shift_Del_p.F53fs|NFATC4_ENST00000553879.1_Frame_Shift_Del_p.F695fs|NFATC4_ENST00000556169.1_Frame_Shift_Del_p.F753fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.F797fs|NFATC4_ENST00000554050.1_Frame_Shift_Del_p.F765fs|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.F765fs|NFATC4_ENST00000554591.1_Frame_Shift_Del_p.F828fs|NFATC4_ENST00000553469.1_Frame_Shift_Del_p.F797fs|NFATC4_ENST00000554473.1_Frame_Shift_Del_p.F300fs|NFATC4_ENST00000556759.1_Frame_Shift_Del_p.F300fs|NFATC4_ENST00000555453.1_Frame_Shift_Del_p.F753fs|NFATC4_ENST00000555393.1_Frame_Shift_Del_p.F53fs|NFATC4_ENST00000422617.3_Frame_Shift_Del_p.F753fs|NFATC4_ENST00000555167.1_Frame_Shift_Del_p.F300fs|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.F778fs	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	765	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGCGGATGTTCCCTGAGACTA	0.622																																						dbGAP											0													48.0	52.0	51.0					14																	24845738		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2295delC	14.37:g.24845738delC	ENSP00000250373:p.Phe765fs		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Frame_Shift_Del	DEL	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P829fs	ENST00000250373.4	37	c.2484	CCDS9629.1	14																																																																																			NFATC4	-	NULL	ENSG00000100968		0.622	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	98	0.00	0	C	NM_004554		24845738	24845738	+1	no_errors	ENST00000413692	ensembl	human	known	69_37n	frame_shift_del	45	43.21	35	DEL	1.000	-
OR51E2	81285	genome.wustl.edu	37	11	4703745	4703745	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr11:4703745G>C	ENST00000396950.3	-	2	436	c.197C>G	c.(196-198)gCa>gGa	p.A66G		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	66					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTCAATGGCTGCAAGCATGCA	0.502																																						dbGAP											0													110.0	91.0	98.0					11																	4703745		2201	4298	6499	-	-	-	SO:0001583	missense	0			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.197C>G	11.37:g.4703745G>C	ENSP00000380153:p.Ala66Gly		B2RA63|Q6IF94	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A66G	ENST00000396950.3	37	c.197	CCDS7751.1	11	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844887	0.71603	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.03124	4.04;4.04	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000305	T	0.10852	0.0265	M	0.85945	2.785	0.38521	D	0.94873	P	0.43231	0.801	B	0.42062	0.374	T	0.02698	-1.1122	10	0.66056	D	0.02	.	17.0368	0.86478	0.0:0.0:1.0:0.0	.	66	Q9H255	O51E2_HUMAN	G	66	ENSP00000380153:A66G;ENSP00000432644:A66G	ENSP00000380153:A66G	A	-	2	0	OR51E2	4660321	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.066000	0.64351	2.613000	0.88420	0.655000	0.94253	GCA	OR51E2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000167332		0.502	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E2	HGNC	protein_coding	OTTHUMT00000257198.1	132	0.00	0	G	NM_030774		4703745	4703745	-1	no_errors	ENST00000396950	ensembl	human	known	69_37n	missense	44	30.16	19	SNP	0.998	C
OR8D1	283159	genome.wustl.edu	37	11	124180566	124180566	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr11:124180566C>T	ENST00000357821.2	-	1	167	c.97G>A	c.(97-99)Gga>Aga	p.G33R		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACATAGATTCCCAGGAACAGG	0.483																																						dbGAP											0													106.0	107.0	107.0					11																	124180566		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.97G>A	11.37:g.124180566C>T	ENSP00000350474:p.Gly33Arg		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G33R	ENST00000357821.2	37	c.97	CCDS31706.1	11	.	.	.	.	.	.	.	.	.	.	c	10.24	1.294405	0.23564	.	.	ENSG00000196341	ENST00000357821	T	0.00441	7.41	4.29	3.29	0.37713	.	0.475041	0.14951	U	0.288883	T	0.00496	0.0016	M	0.83312	2.635	0.09310	N	1	P	0.45044	0.849	B	0.42188	0.379	T	0.47433	-0.9118	10	0.25106	T	0.35	.	6.8533	0.24026	0.2681:0.6351:0.0:0.0967	.	33	Q8WZ84	OR8D1_HUMAN	R	33	ENSP00000350474:G33R	ENSP00000350474:G33R	G	-	1	0	OR8D1	123685776	0.000000	0.05858	0.023000	0.16930	0.016000	0.09150	-0.988000	0.03739	2.236000	0.73375	0.508000	0.49915	GGA	OR8D1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000196341		0.483	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	235	0.00	0	C	NM_001002917		124180566	124180566	-1	no_errors	ENST00000357821	ensembl	human	known	69_37n	missense	20	58.33	28	SNP	0.000	T
OR8D1	283159	genome.wustl.edu	37	11	124180566	124180566	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr11:124180566C>T	ENST00000357821.2	-	1	167	c.97G>A	c.(97-99)Gga>Aga	p.G33R		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACATAGATTCCCAGGAACAGG	0.483																																						dbGAP											0													106.0	107.0	107.0					11																	124180566		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.97G>A	11.37:g.124180566C>T	ENSP00000350474:p.Gly33Arg		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G33R	ENST00000357821.2	37	c.97	CCDS31706.1	11	.	.	.	.	.	.	.	.	.	.	c	10.24	1.294405	0.23564	.	.	ENSG00000196341	ENST00000357821	T	0.00441	7.41	4.29	3.29	0.37713	.	0.475041	0.14951	U	0.288883	T	0.00496	0.0016	M	0.83312	2.635	0.09310	N	1	P	0.45044	0.849	B	0.42188	0.379	T	0.47433	-0.9118	10	0.25106	T	0.35	.	6.8533	0.24026	0.2681:0.6351:0.0:0.0967	.	33	Q8WZ84	OR8D1_HUMAN	R	33	ENSP00000350474:G33R	ENSP00000350474:G33R	G	-	1	0	OR8D1	123685776	0.000000	0.05858	0.023000	0.16930	0.016000	0.09150	-0.988000	0.03739	2.236000	0.73375	0.508000	0.49915	GGA	OR8D1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000196341		0.483	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	138	0.00	0	C	NM_001002917		124180566	124180566	-1	no_errors	ENST00000357821	ensembl	human	known	69_37n	missense	20	58.33	28	SNP	0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	203	0.49	1	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	71	35.14	39	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	158	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	71	35.14	39	SNP	1.000	G
PIK3R3	8503	genome.wustl.edu	37	1	46512262	46512262	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr1:46512262A>C	ENST00000262741.5	-	8	1666	c.977T>G	c.(976-978)cTg>cGg	p.L326R	PIK3R3_ENST00000340332.6_Missense_Mutation_p.L231R|PIK3R3_ENST00000372006.1_Missense_Mutation_p.L326R|RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000423209.1_Missense_Mutation_p.L267R|PIK3R3_ENST00000540385.1_Missense_Mutation_p.L372R|PIK3R3_ENST00000420542.1_Missense_Mutation_p.L326R|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Missense_Mutation_p.L267R	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	326					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CCAGACATTCAGGCGTTTCTG	0.443																																						dbGAP											0													178.0	168.0	171.0					1																	46512262		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.977T>G	1.37:g.46512262A>C	ENSP00000262741:p.Leu326Arg		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.L372R	ENST00000262741.5	37	c.1115	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274740	0.59649	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;T;D;T;T	0.86297	1.44;1.44;1.44;-1.49;-2.1;1.44;-1.49	5.1	5.1	0.69264	.	0.175293	0.46758	D	0.000270	D	0.85965	0.5820	L	0.40543	1.245	0.29382	N	0.863246	B;B;B;B	0.32862	0.387;0.099;0.004;0.019	B;B;B;B	0.41723	0.365;0.145;0.017;0.024	D	0.84845	0.0810	10	0.87932	D	0	-8.2857	15.3632	0.74499	1.0:0.0:0.0:0.0	.	372;359;267;326	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	R	326;326;326;267;231;372;267	ENSP00000361075:L326R;ENSP00000262741:L326R;ENSP00000412546:L326R;ENSP00000346188:L267R;ENSP00000342484:L231R;ENSP00000439913:L372R;ENSP00000391431:L267R	ENSP00000262741:L326R	L	-	2	0	PIK3R3	46284849	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.139000	0.94554	2.279000	0.76181	0.533000	0.62120	CTG	PIK3R3	-	prints_PI3kinase_P85	ENSG00000117461		0.443	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	351	0.85	3	A	NM_003629		46512262	46512262	-1	no_errors	ENST00000540385	ensembl	human	known	69_37n	missense	114	31.74	53	SNP	1.000	C
PIK3R3	8503	genome.wustl.edu	37	1	46512262	46512262	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr1:46512262A>C	ENST00000262741.5	-	8	1666	c.977T>G	c.(976-978)cTg>cGg	p.L326R	PIK3R3_ENST00000340332.6_Missense_Mutation_p.L231R|PIK3R3_ENST00000372006.1_Missense_Mutation_p.L326R|RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000423209.1_Missense_Mutation_p.L267R|PIK3R3_ENST00000540385.1_Missense_Mutation_p.L372R|PIK3R3_ENST00000420542.1_Missense_Mutation_p.L326R|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Missense_Mutation_p.L267R	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	326					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CCAGACATTCAGGCGTTTCTG	0.443																																						dbGAP											0													178.0	168.0	171.0					1																	46512262		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.977T>G	1.37:g.46512262A>C	ENSP00000262741:p.Leu326Arg		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.L372R	ENST00000262741.5	37	c.1115	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274740	0.59649	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;T;D;T;T	0.86297	1.44;1.44;1.44;-1.49;-2.1;1.44;-1.49	5.1	5.1	0.69264	.	0.175293	0.46758	D	0.000270	D	0.85965	0.5820	L	0.40543	1.245	0.29382	N	0.863246	B;B;B;B	0.32862	0.387;0.099;0.004;0.019	B;B;B;B	0.41723	0.365;0.145;0.017;0.024	D	0.84845	0.0810	10	0.87932	D	0	-8.2857	15.3632	0.74499	1.0:0.0:0.0:0.0	.	372;359;267;326	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	R	326;326;326;267;231;372;267	ENSP00000361075:L326R;ENSP00000262741:L326R;ENSP00000412546:L326R;ENSP00000346188:L267R;ENSP00000342484:L231R;ENSP00000439913:L372R;ENSP00000391431:L267R	ENSP00000262741:L326R	L	-	2	0	PIK3R3	46284849	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.139000	0.94554	2.279000	0.76181	0.533000	0.62120	CTG	PIK3R3	-	prints_PI3kinase_P85	ENSG00000117461		0.443	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	299	0.00	0	A	NM_003629		46512262	46512262	-1	no_errors	ENST00000540385	ensembl	human	known	69_37n	missense	114	31.74	53	SNP	1.000	C
PIWIL2	55124	genome.wustl.edu	37	8	22146119	22146120	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr8:22146119_22146120insA	ENST00000454009.2	+	8	1435_1436	c.926_927insA	c.(925-930)acaaagfs	p.TK309fs	PIWIL2_ENST00000356766.6_Frame_Shift_Ins_p.TK309fs|PIWIL2_ENST00000521356.1_Frame_Shift_Ins_p.TK309fs	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	309					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTCAGATGACAAAGATCCTGG	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.929dupA	8.37:g.22146122_22146122dupA	ENSP00000406956:p.Thr309fs		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Frame_Shift_Ins	INS	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.I311fs	ENST00000454009.2	37	c.926_927	CCDS6029.1	8																																																																																			PIWIL2	-	superfamily_PAZ	ENSG00000197181		0.391	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	300	0.66	2	-			22146119	22146120	+1	no_errors	ENST00000356766	ensembl	human	known	69_37n	frame_shift_ins	54	46.00	46	INS	1.000:0.988	A
PIWIL2	55124	genome.wustl.edu	37	8	22146119	22146120	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr8:22146119_22146120insA	ENST00000454009.2	+	8	1435_1436	c.926_927insA	c.(925-930)acaaagfs	p.TK309fs	PIWIL2_ENST00000356766.6_Frame_Shift_Ins_p.TK309fs|PIWIL2_ENST00000521356.1_Frame_Shift_Ins_p.TK309fs	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	309					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTCAGATGACAAAGATCCTGG	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.929dupA	8.37:g.22146122_22146122dupA	ENSP00000406956:p.Thr309fs		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Frame_Shift_Ins	INS	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.I311fs	ENST00000454009.2	37	c.926_927	CCDS6029.1	8																																																																																			PIWIL2	-	superfamily_PAZ	ENSG00000197181		0.391	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	264	0.00	0	-			22146119	22146120	+1	no_errors	ENST00000356766	ensembl	human	known	69_37n	frame_shift_ins	54	46.00	46	INS	1.000:0.988	A
SLC16A1	6566	genome.wustl.edu	37	1	113456766	113456766	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr1:113456766C>T	ENST00000538576.1	-	5	2081	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	SLC16A1_ENST00000369626.3_Missense_Mutation_p.G417E	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	417					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TTTGTAGTCTCCATACATGTC	0.383																																						dbGAP											0													98.0	93.0	95.0					1																	113456766		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1250G>A	1.37:g.113456766C>T	ENSP00000441065:p.Gly417Glu		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.G417E	ENST00000538576.1	37	c.1250	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953146	0.73902	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229	D;D;D	0.87029	-2.2;-2.2;-2.2	5.73	5.73	0.89815	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.155442	0.56097	D	0.000024	D	0.90356	0.6982	M	0.78637	2.42	0.80722	D	1	P	0.38535	0.635	P	0.48982	0.597	D	0.90669	0.4596	10	0.66056	D	0.02	.	19.4945	0.95067	0.0:1.0:0.0:0.0	.	417	P53985	MOT1_HUMAN	E	417	ENSP00000358640:G417E;ENSP00000441065:G417E;ENSP00000416167:G417E	ENSP00000358640:G417E	G	-	2	0	SLC16A1	113258289	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.742000	0.62103	2.703000	0.92315	0.650000	0.86243	GGA	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.383	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	145	0.68	1	C	NM_003051		113456766	113456766	-1	no_errors	ENST00000369626	ensembl	human	known	69_37n	missense	55	27.63	21	SNP	1.000	T
SLC16A1	6566	genome.wustl.edu	37	1	113456766	113456766	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr1:113456766C>T	ENST00000538576.1	-	5	2081	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	SLC16A1_ENST00000369626.3_Missense_Mutation_p.G417E	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	417					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TTTGTAGTCTCCATACATGTC	0.383																																						dbGAP											0													98.0	93.0	95.0					1																	113456766		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1250G>A	1.37:g.113456766C>T	ENSP00000441065:p.Gly417Glu		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.G417E	ENST00000538576.1	37	c.1250	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953146	0.73902	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229	D;D;D	0.87029	-2.2;-2.2;-2.2	5.73	5.73	0.89815	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.155442	0.56097	D	0.000024	D	0.90356	0.6982	M	0.78637	2.42	0.80722	D	1	P	0.38535	0.635	P	0.48982	0.597	D	0.90669	0.4596	10	0.66056	D	0.02	.	19.4945	0.95067	0.0:1.0:0.0:0.0	.	417	P53985	MOT1_HUMAN	E	417	ENSP00000358640:G417E;ENSP00000441065:G417E;ENSP00000416167:G417E	ENSP00000358640:G417E	G	-	2	0	SLC16A1	113258289	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.742000	0.62103	2.703000	0.92315	0.650000	0.86243	GGA	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.383	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	127	0.00	0	C	NM_003051		113456766	113456766	-1	no_errors	ENST00000369626	ensembl	human	known	69_37n	missense	55	27.63	21	SNP	1.000	T
SSX3	10214	genome.wustl.edu	37	X	48214616	48214616	+	Splice_Site	SNP	C	C	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chrX:48214616C>A	ENST00000298396.2	-	2	121	c.69G>T	c.(67-69)aaG>aaT	p.K23N	SSX3_ENST00000376893.3_Splice_Site_p.K23N|SSX3_ENST00000376895.1_5'Flank	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	23	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						GTCACCTCACCTTTTGTATCT	0.537																																					Colon(37;227 826 19399 40970 48007)	dbGAP											0													263.0	200.0	221.0					X																	48214616		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.69+1G>T	X.37:g.48214616C>A			O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.K23N	ENST00000298396.2	37	c.69	CCDS14291.1	X	.	.	.	.	.	.	.	.	.	.	c	14.15	2.449764	0.43531	.	.	ENSG00000165584	ENST00000298396;ENST00000376893	T;T	0.00808	5.67;5.67	1.73	1.73	0.24493	Krueppel-associated box (2);Krueppel-associated box-related (1);	0.142736	0.32563	N	0.005925	T	0.03608	0.0103	M	0.76002	2.32	0.09310	N	1	D;D	0.89917	1.0;0.992	D;D	0.91635	0.999;0.955	T	0.17137	-1.0379	9	.	.	.	.	6.3279	0.21255	0.0:1.0:0.0:0.0	.	23;23	Q9BRW7;Q99909	.;SSX3_HUMAN	N	23	ENSP00000298396:K23N;ENSP00000366090:K23N	.	K	-	3	2	SSX3	48099560	0.985000	0.35326	0.038000	0.18304	0.324000	0.28378	2.463000	0.45058	1.152000	0.42452	0.181000	0.17075	AAG	SSX3	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	ENSG00000165584		0.537	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX3	HGNC	protein_coding	OTTHUMT00000056486.1	922	0.22	2	C	NM_021014	Missense_Mutation	48214616	48214616	-1	no_errors	ENST00000298396	ensembl	human	known	69_37n	missense	377	33.04	186	SNP	0.036	A
SSX3	10214	genome.wustl.edu	37	X	48214616	48214616	+	Splice_Site	SNP	C	C	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chrX:48214616C>A	ENST00000298396.2	-	2	121	c.69G>T	c.(67-69)aaG>aaT	p.K23N	SSX3_ENST00000376893.3_Splice_Site_p.K23N|SSX3_ENST00000376895.1_5'Flank	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	23	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						GTCACCTCACCTTTTGTATCT	0.537																																					Colon(37;227 826 19399 40970 48007)	dbGAP											0													263.0	200.0	221.0					X																	48214616		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.69+1G>T	X.37:g.48214616C>A			O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.K23N	ENST00000298396.2	37	c.69	CCDS14291.1	X	.	.	.	.	.	.	.	.	.	.	c	14.15	2.449764	0.43531	.	.	ENSG00000165584	ENST00000298396;ENST00000376893	T;T	0.00808	5.67;5.67	1.73	1.73	0.24493	Krueppel-associated box (2);Krueppel-associated box-related (1);	0.142736	0.32563	N	0.005925	T	0.03608	0.0103	M	0.76002	2.32	0.09310	N	1	D;D	0.89917	1.0;0.992	D;D	0.91635	0.999;0.955	T	0.17137	-1.0379	9	.	.	.	.	6.3279	0.21255	0.0:1.0:0.0:0.0	.	23;23	Q9BRW7;Q99909	.;SSX3_HUMAN	N	23	ENSP00000298396:K23N;ENSP00000366090:K23N	.	K	-	3	2	SSX3	48099560	0.985000	0.35326	0.038000	0.18304	0.324000	0.28378	2.463000	0.45058	1.152000	0.42452	0.181000	0.17075	AAG	SSX3	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	ENSG00000165584		0.537	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX3	HGNC	protein_coding	OTTHUMT00000056486.1	884	0.00	0	C	NM_021014	Missense_Mutation	48214616	48214616	-1	no_errors	ENST00000298396	ensembl	human	known	69_37n	missense	377	33.04	186	SNP	0.036	A
TIMP3	7078	genome.wustl.edu	37	22	33245467	33245467	+	Silent	SNP	G	G	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr22:33245467G>A	ENST00000266085.6	+	2	451	c.150G>A	c.(148-150)aaG>aaA	p.K50K	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	50	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TGGGGAAGAAGCTGGTAAAGG	0.542																																						dbGAP											0													96.0	79.0	85.0					22																	33245467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.150G>A	22.37:g.33245467G>A			B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Silent	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.K50	ENST00000266085.6	37	c.150	CCDS13911.1	22																																																																																			TIMP3	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	ENSG00000100234		0.542	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	HGNC	protein_coding	OTTHUMT00000075672.2	226	0.44	1	G	NM_000362		33245467	33245467	+1	no_errors	ENST00000266085	ensembl	human	known	69_37n	silent	83	32.26	40	SNP	1.000	A
TIMP3	7078	genome.wustl.edu	37	22	33245467	33245467	+	Silent	SNP	G	G	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr22:33245467G>A	ENST00000266085.6	+	2	451	c.150G>A	c.(148-150)aaG>aaA	p.K50K	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	50	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TGGGGAAGAAGCTGGTAAAGG	0.542																																						dbGAP											0													96.0	79.0	85.0					22																	33245467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.150G>A	22.37:g.33245467G>A			B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Silent	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.K50	ENST00000266085.6	37	c.150	CCDS13911.1	22																																																																																			TIMP3	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	ENSG00000100234		0.542	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	HGNC	protein_coding	OTTHUMT00000075672.2	288	0.00	0	G	NM_000362		33245467	33245467	+1	no_errors	ENST00000266085	ensembl	human	known	69_37n	silent	83	32.26	40	SNP	1.000	A
TRAK1	22906	genome.wustl.edu	37	3	42230525	42230525	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr3:42230525C>T	ENST00000327628.5	+	6	999	c.599C>T	c.(598-600)tCg>tTg	p.S200L	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S142L|TRAK1_ENST00000449246.1_Missense_Mutation_p.S126L|TRAK1_ENST00000341421.3_Missense_Mutation_p.S142L	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	200	HAP1 N-terminal.|Poly-Ser.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGAATGAGTCGTCCTCCTCA	0.483																																					GBM(44;195 884 22595 31865 41850)	dbGAP											0													110.0	96.0	101.0					3																	42230525		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.599C>T	3.37:g.42230525C>T	ENSP00000328998:p.Ser200Leu		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.S142L	ENST00000327628.5	37	c.425	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642962	0.67244	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421	T;T;D;D	0.88975	2.14;2.14;-2.45;-2.45	5.6	5.6	0.85130	.	0.073229	0.56097	D	0.000026	D	0.87649	0.6230	L	0.43646	1.37	0.43959	D	0.996639	P;P;P;P;P;P	0.46987	0.856;0.856;0.884;0.826;0.888;0.522	B;B;B;B;P;B	0.44561	0.227;0.227;0.381;0.204;0.453;0.081	D	0.87645	0.2524	10	0.45353	T	0.12	.	18.6088	0.91276	0.0:1.0:0.0:0.0	.	126;142;200;142;126;200	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	L	200;200;126;142;142	ENSP00000328998:S200L;ENSP00000410717:S126L;ENSP00000379478:S142L;ENSP00000340702:S142L	ENSP00000328998:S200L	S	+	2	0	TRAK1	42205529	1.000000	0.71417	0.963000	0.40424	0.993000	0.82548	6.698000	0.74608	2.624000	0.88883	0.643000	0.83706	TCG	TRAK1	-	pfam_HAP1_N	ENSG00000182606		0.483	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	182	0.55	1	C	NM_014965		42230525	42230525	+1	no_errors	ENST00000396175	ensembl	human	known	69_37n	missense	65	33.67	33	SNP	0.993	T
UBC	7316	genome.wustl.edu	37	12	125396731	125396731	+	Silent	SNP	A	A	G	rs71458875		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr12:125396731A>G	ENST00000536769.1	-	1	3163	c.1587T>C	c.(1585-1587)ctT>ctC	p.L529L	UBC_ENST00000339647.5_Silent_p.L529L|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.L453L|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	529	Ubiquitin-like 7. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTAAGACGGAGCA	0.522																																						dbGAP											0													4.0	3.0	3.0					12																	125396731		1183	2003	3186	-	-	-	SO:0001819	synonymous_variant	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1587T>C	12.37:g.125396731A>G			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.L529	ENST00000536769.1	37	c.1587	CCDS9260.1	12																																																																																			UBC	-	pfam_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	20	0.00	0	A	NM_021009		125396731	125396731	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	silent	10	23.08	3	SNP	0.760	G
ZNF675	171392	genome.wustl.edu	37	19	23837311	23837311	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr19:23837311T>A	ENST00000359788.4	-	4	592	c.424A>T	c.(424-426)Aaa>Taa	p.K142*	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	142					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGAAACATTTTGCTCTGCATA	0.289																																						dbGAP											0													78.0	78.0	78.0					19																	23837311		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.424A>T	19.37:g.23837311T>A	ENSP00000352836:p.Lys142*		Q8N211	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K142*	ENST00000359788.4	37	c.424	CCDS32981.1	19	.	.	.	.	.	.	.	.	.	.	.	14.61	2.585413	0.46110	.	.	ENSG00000197372	ENST00000359788	.	.	.	0.916	0.916	0.19373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.595	0.17321	0.0:0.0:0.0:1.0	.	.	.	.	X	142	.	ENSP00000352836:K142X	K	-	1	0	ZNF675	23629151	0.877000	0.30153	0.025000	0.17156	0.025000	0.11179	1.280000	0.33202	0.257000	0.21650	0.254000	0.18369	AAA	ZNF675	-	NULL	ENSG00000197372		0.289	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	212	0.00	0	T	NM_138330		23837311	23837311	-1	no_errors	ENST00000359788	ensembl	human	known	69_37n	nonsense	123	38.50	77	SNP	0.319	A
ZNF829	374899	genome.wustl.edu	37	19	37382643	37382645	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr19:37382643_37382645delCTT	ENST00000391711.3	-	6	1412_1414	c.1048_1050delAAG	c.(1048-1050)aagdel	p.K350del	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_In_Frame_Del_p.K431del	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCATAGAGCTTCTCACCAGCA	0.379																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1048_1050delAAG	19.37:g.37382643_37382645delCTT	ENSP00000429266:p.Lys350del		Q3KNS7|Q6ZNN0|Q7Z657	In_Frame_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K431in_frame_del	ENST00000391711.3	37	c.1293_1291	CCDS42557.1	19																																																																																			ZNF829	-	pfscan_Znf_C2H2	ENSG00000185869		0.379	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	399	0.00	0	CTT	NM_001037232		37382643	37382645	-1	no_errors	ENST00000520965	ensembl	human	known	69_37n	in_frame_del	99	30.28	43	DEL	0.992:1.000:1.000	-
ZNF829	374899	genome.wustl.edu	37	19	37382643	37382645	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr19:37382643_37382645delCTT	ENST00000391711.3	-	6	1412_1414	c.1048_1050delAAG	c.(1048-1050)aagdel	p.K350del	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_In_Frame_Del_p.K431del	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCATAGAGCTTCTCACCAGCA	0.379																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1048_1050delAAG	19.37:g.37382643_37382645delCTT	ENSP00000429266:p.Lys350del		Q3KNS7|Q6ZNN0|Q7Z657	In_Frame_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K431in_frame_del	ENST00000391711.3	37	c.1293_1291	CCDS42557.1	19																																																																																			ZNF829	-	pfscan_Znf_C2H2	ENSG00000185869		0.379	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	256	0.00	0	CTT	NM_001037232		37382643	37382645	-1	no_errors	ENST00000520965	ensembl	human	known	69_37n	in_frame_del	99	30.28	43	DEL	0.992:1.000:1.000	-
ZSCAN2	54993	genome.wustl.edu	37	15	85164438	85164438	+	Missense_Mutation	SNP	G	G	A	rs200321461		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr15:85164438G>A	ENST00000448803.2	+	3	1304	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E338K|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E188K|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E337K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	338					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CTCGTGCCCCGAGTGTGGAAA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		16114	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													106.0	103.0	104.0					15																	85164438		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1012G>A	15.37:g.85164438G>A	ENSP00000410198:p.Glu338Lys		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E338K	ENST00000448803.2	37	c.1012	CCDS10329.2	15	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.70	1.423528	0.25639	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.78	2.74	0.32292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.108348	0.41294	D	0.000912	T	0.18800	0.0451	N	0.16478	0.41	0.58432	D	0.999993	B;B	0.18013	0.025;0.003	B;B	0.12837	0.008;0.001	T	0.05616	-1.0874	9	.	.	.	-25.8347	7.8734	0.29580	0.0936:0.1636:0.7428:0.0	.	338;338	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	K	338;338;188;337;319	ENSP00000410198:E338K;ENSP00000445451:E338K;ENSP00000351257:E188K;ENSP00000325123:E337K	.	E	+	1	0	ZSCAN2	82965442	0.000000	0.05858	0.940000	0.37924	0.353000	0.29299	-0.191000	0.09601	1.137000	0.42214	0.655000	0.94253	GAG	ZSCAN2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176371		0.552	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	HGNC	protein_coding	OTTHUMT00000396956.1	128	0.78	1	G	NM_017894		85164438	85164438	+1	no_errors	ENST00000448803	ensembl	human	known	69_37n	missense	48	36.00	27	SNP	0.726	A
ZSCAN2	54993	genome.wustl.edu	37	15	85164438	85164438	+	Missense_Mutation	SNP	G	G	A	rs200321461		TCGA-E2-A15K-01A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	351253e5-486b-44c3-9399-38a7e367a0e0	26163687-7ede-43be-aeb7-21ad33133d45	g.chr15:85164438G>A	ENST00000448803.2	+	3	1304	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E338K|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E188K|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E337K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	338					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CTCGTGCCCCGAGTGTGGAAA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		16114	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													106.0	103.0	104.0					15																	85164438		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1012G>A	15.37:g.85164438G>A	ENSP00000410198:p.Glu338Lys		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E338K	ENST00000448803.2	37	c.1012	CCDS10329.2	15	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.70	1.423528	0.25639	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.78	2.74	0.32292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.108348	0.41294	D	0.000912	T	0.18800	0.0451	N	0.16478	0.41	0.58432	D	0.999993	B;B	0.18013	0.025;0.003	B;B	0.12837	0.008;0.001	T	0.05616	-1.0874	9	.	.	.	-25.8347	7.8734	0.29580	0.0936:0.1636:0.7428:0.0	.	338;338	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	K	338;338;188;337;319	ENSP00000410198:E338K;ENSP00000445451:E338K;ENSP00000351257:E188K;ENSP00000325123:E337K	.	E	+	1	0	ZSCAN2	82965442	0.000000	0.05858	0.940000	0.37924	0.353000	0.29299	-0.191000	0.09601	1.137000	0.42214	0.655000	0.94253	GAG	ZSCAN2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176371		0.552	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	HGNC	protein_coding	OTTHUMT00000396956.1	85	0.00	0	G	NM_017894		85164438	85164438	+1	no_errors	ENST00000448803	ensembl	human	known	69_37n	missense	48	36.00	27	SNP	0.726	A
