#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
ADAM21P1	145241	genome.wustl.edu	37	14	70714162	70714162	+	RNA	SNP	A	A	G	rs386778594|rs4899340	byFrequency	TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr14:70714162A>G	ENST00000530196.1	-	0	356					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		TATGAACAACATGTTTCTGGT	0.522													G|||	4179	0.834465	0.6959	0.8804	5008	,	,		17345	0.9038		0.827	False		,,,				2504	0.9254					dbGAP											0																																										-	-	-			0					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714162A>G				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-	ENSG00000235812		0.522	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	49	0.00	0	A	NG_002467		70714162	70714162	-1	no_errors	ENST00000530196	ensembl	human	known	69_37n	rna	90	14.29	15	SNP	0.000	G
ADAMTSL3	57188	genome.wustl.edu	37	15	84506850	84506850	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr15:84506850T>A	ENST00000286744.5	+	7	834	c.610T>A	c.(610-612)Tgc>Agc	p.C204S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.C204S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	204						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCAGTGGGCTGCGATCGGCA	0.562																																						dbGAP											0													69.0	65.0	66.0					15																	84506850		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.610T>A	15.37:g.84506850T>A	ENSP00000286744:p.Cys204Ser		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.C204S	ENST00000286744.5	37	c.610	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593252	0.86953	.	.	ENSG00000156218	ENST00000286744	T	0.72615	-0.67	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.92996	0.6419	10	0.87932	D	0	.	15.905	0.79419	0.0:0.0:0.0:1.0	.	204;204	P82987-2;P82987	.;ATL3_HUMAN	S	204	ENSP00000286744:C204S	ENSP00000286744:C204S	C	+	1	0	ADAMTSL3	82297854	1.000000	0.71417	0.997000	0.53966	0.748000	0.42578	7.446000	0.80609	2.207000	0.71202	0.528000	0.53228	TGC	ADAMTSL3	-	prints_Peptidase_M12B_ADAM-TS	ENSG00000156218		0.562	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	20	0.00	0	T	NM_207517		84506850	84506850	+1	no_errors	ENST00000286744	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	A
ALMS1P	200420	genome.wustl.edu	37	2	73912256	73912256	+	RNA	SNP	G	G	A	rs368610477		TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr2:73912256G>A	ENST00000450720.1	+	0	1154					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												GCCTGGGAAGGTTTTCTAATC	0.507																																						dbGAP											0													16.0	17.0	16.0					2																	73912256		692	1591	2283	-	-	-			0			BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73912256G>A				RNA	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			ALMS1P	-	-	ENSG00000163016		0.507	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1	17	0.00	0	G	NR_003683		73912256	73912256	+1	no_errors	ENST00000450720	ensembl	human	known	69_37n	rna	28	20.00	7	SNP	0.001	A
CLEC16A	23274	genome.wustl.edu	37	16	11154805	11154805	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr16:11154805G>A	ENST00000409790.1	+	19	2272	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R663Q	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGCAATTGCGAGGGGAGCCT	0.542																																						dbGAP											1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											174.0	188.0	183.0					16																	11154805		2196	4300	6496	-	-	-	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2042G>A	16.37:g.11154805G>A	ENSP00000387122:p.Arg681Gln			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.R681Q	ENST00000409790.1	37	c.2042	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329346	0.24167	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.41400	1.0	5.52	2.54	0.30619	.	0.184638	0.49305	N	0.000143	T	0.19725	0.0474	N	0.11756	0.17	0.80722	D	1	B;B	0.19817	0.039;0.03	B;B	0.08055	0.002;0.003	T	0.06127	-1.0844	10	0.13108	T	0.6	-0.6663	7.6422	0.28300	0.2628:0.0:0.7372:0.0	.	681;663	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	Q	681;681;663	ENSP00000387122:R681Q	ENSP00000386495:R663Q	R	+	2	0	CLEC16A	11062306	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	2.821000	0.48065	0.398000	0.25338	0.563000	0.77884	CGA	CLEC16A	-	NULL	ENSG00000038532		0.542	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	49	0.00	0	G	NM_015226		11154805	11154805	+1	no_errors	ENST00000409790	ensembl	human	known	69_37n	missense	104	20.45	27	SNP	1.000	A
CMIP	80790	genome.wustl.edu	37	16	81737574	81737574	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr16:81737574G>T	ENST00000537098.3	+	18	2047	c.1975G>T	c.(1975-1977)Ggc>Tgc	p.G659C	CMIP_ENST00000539778.2_Missense_Mutation_p.G565C|CMIP_ENST00000398040.4_Missense_Mutation_p.G506C|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	659						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						GCTGAGCTCCGGCTCCTTCGG	0.612																																						dbGAP											0													39.0	47.0	45.0					16																	81737574		2188	4285	6473	-	-	-	SO:0001583	missense	0			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1975G>T	16.37:g.81737574G>T	ENSP00000446100:p.Gly659Cys		Q9C0G9	Missense_Mutation	SNP	NULL	p.G659C	ENST00000537098.3	37	c.1975	CCDS54044.1	16	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545891	0.86022	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.54071	0.59;0.59	5.26	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.66724	-0.5851	10	0.87932	D	0	.	15.9032	0.79400	0.0:0.1356:0.8644:0.0	.	506;565;659	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	C	659;565;565;472	ENSP00000446100:G659C;ENSP00000440401:G565C	ENSP00000381120:G565C	G	+	1	0	CMIP	80295075	1.000000	0.71417	0.934000	0.37439	0.991000	0.79684	9.424000	0.97464	1.208000	0.43306	0.549000	0.68633	GGC	CMIP	-	NULL	ENSG00000153815		0.612	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMIP	HGNC	protein_coding	OTTHUMT00000432399.2	27	0.00	0	G	NM_030629		81737574	81737574	+1	no_errors	ENST00000537098	ensembl	human	known	69_37n	missense	31	34.04	16	SNP	0.998	T
COLEC11	78989	genome.wustl.edu	37	2	3691463	3691463	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr2:3691463G>A	ENST00000349077.4	+	7	674	c.571G>A	c.(571-573)Gca>Aca	p.A191T	COLEC11_ENST00000382062.2_Missense_Mutation_p.A167T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A117T|COLEC11_ENST00000402922.1_Missense_Mutation_p.A141T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A188T|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000403096.3_Missense_Mutation_p.A165T|COLEC11_ENST00000418971.2_Missense_Mutation_p.A205T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A141T	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	191	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.A205T(1)|p.A188T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCTGATGGCCGCATACCTGGC	0.672																																						dbGAP											2	Substitution - Missense(2)	kidney(2)											36.0	40.0	39.0					2																	3691463		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.571G>A	2.37:g.3691463G>A	ENSP00000339168:p.Ala191Thr		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.A205T	ENST00000349077.4	37	c.613	CCDS1649.1	2	.	.	.	.	.	.	.	.	.	.	G	7.354	0.623376	0.14193	.	.	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.2	-0.861	0.10676	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.695666	0.15318	N	0.268725	T	0.07413	0.0187	N	0.11313	0.125	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.22211	0.009;0.002;0.008;0.002;0.002;0.001;0.002;0.006;0.066	B;B;B;B;B;B;B;B;B	0.16289	0.003;0.002;0.002;0.002;0.002;0.002;0.003;0.015;0.007	T	0.26360	-1.0105	10	0.42905	T	0.14	-5.3795	6.5381	0.22365	0.1754:0.0:0.3207:0.5039	.	117;141;141;165;143;167;167;191;188	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	T	167;188;191;205;165;141;117;141	ENSP00000371494:A167T;ENSP00000236693:A188T;ENSP00000339168:A191T;ENSP00000411770:A205T;ENSP00000385130:A165T;ENSP00000384882:A141T;ENSP00000385827:A117T;ENSP00000385653:A141T	ENSP00000236693:A188T	A	+	1	0	COLEC11	3669338	0.628000	0.27138	0.350000	0.25708	0.027000	0.11550	2.152000	0.42272	-0.402000	0.07633	-0.444000	0.05651	GCA	COLEC11	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000118004		0.672	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC11	HGNC	protein_coding	OTTHUMT00000206666.1	20	0.00	0	G	NM_024027		3691463	3691463	+1	no_errors	ENST00000418971	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	0.255	A
DGCR14	8220	genome.wustl.edu	37	22	19127488	19127488	+	Silent	SNP	G	G	C	rs138980683		TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr22:19127488G>C	ENST00000252137.6	-	4	493	c.450C>G	c.(448-450)gtC>gtG	p.V150V		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	150					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGCTCAGGAAGACATCTAGGC	0.607																																						dbGAP											0													120.0	118.0	118.0					22																	19127488		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.450C>G	22.37:g.19127488G>C			Q49AH7|Q9BTZ4	Silent	SNP	pfam_Nuclear_protein_DGCR14	p.V150	ENST00000252137.6	37	c.450	CCDS13756.1	22																																																																																			DGCR14	-	pfam_Nuclear_protein_DGCR14	ENSG00000100056		0.607	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	29	0.00	0	G			19127488	19127488	-1	no_errors	ENST00000252137	ensembl	human	known	69_37n	silent	48	26.15	17	SNP	0.997	C
HSF4	3299	genome.wustl.edu	37	16	67201760	67201760	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr16:67201760delC	ENST00000521374.1	+	9	992	c.992delC	c.(991-993)gccfs	p.A331fs	HSF4_ENST00000264009.8_Frame_Shift_Del_p.A331fs|HSF4_ENST00000421453.1_Frame_Shift_Del_p.A301fs|HSF4_ENST00000584272.1_Frame_Shift_Del_p.A301fs|NOL3_ENST00000564053.1_5'Flank|NOL3_ENST00000432069.2_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	331					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GTGGTGCAGGCCATCCTGGAA	0.667																																						dbGAP											0													14.0	21.0	19.0					16																	67201760		1929	4109	6038	-	-	-	SO:0001589	frameshift_variant	0			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.992delC	16.37:g.67201760delC	ENSP00000430947:p.Ala331fs		Q99472|Q9ULV6	Frame_Shift_Del	DEL	pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.I332fs	ENST00000521374.1	37	c.992	CCDS42175.1	16																																																																																			HSF4	-	NULL	ENSG00000102878		0.667	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF4	HGNC	protein_coding	OTTHUMT00000375080.1	15	0.00	0	C	NM_001538		67201760	67201760	+1	no_errors	ENST00000264009	ensembl	human	known	69_37n	frame_shift_del	28	24.32	9	DEL	1.000	-
IGHM	3507	genome.wustl.edu	37	14	106322075	106322075	+	RNA	SNP	G	G	A			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr14:106322075G>A	ENST00000390559.2	-	0	248				AL122127.4_ENST00000581720.1_RNA|AL122127.5_ENST00000582202.1_RNA|hsa-mir-4538_ENST00000581318.1_RNA|AL122127.1_ENST00000581354.1_RNA|AL122127.2_ENST00000581918.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCACGTGTTCGTCTGTGCCCT	0.622																																						dbGAP											0													111.0	113.0	112.0					14																	106322075		2080	4193	6273	-	-	-			0			X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106322075G>A			P20769	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_C1-set,pfscan_Ig-like	p.D83	ENST00000390559.2	37	c.249		14																																																																																			IGHM	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000211899		0.622	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHM	HGNC	IG_C_gene	OTTHUMT00000326272.1	56	0.00	0	G	NG_001019		106322075	106322075	-1	no_start_codon	ENST00000390559	ensembl	human	known	69_37n	silent	105	11.02	13	SNP	0.000	A
MACF1	23499	genome.wustl.edu	37	1	39798985	39798985	+	Missense_Mutation	SNP	A	A	G	rs536543417		TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr1:39798985A>G	ENST00000372915.3	+	36	6827	c.6740A>G	c.(6739-6741)gAa>gGa	p.E2247G	MACF1_ENST00000564288.1_Missense_Mutation_p.E2242G|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E682G|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E2279G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2247					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCATAAAGAAAGTCAAGAA	0.383													A|||	1	0.000199681	0.0	0.0014	5008	,	,		22021	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													90.0	89.0	89.0					1																	39798985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6740A>G	1.37:g.39798985A>G	ENSP00000362006:p.Glu2247Gly		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E2279G	ENST00000372915.3	37	c.6836		1	.	.	.	.	.	.	.	.	.	.	A	1.090	-0.664437	0.03428	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.62498	0.02;1.12	5.85	3.37	0.38596	.	0.556047	0.16182	N	0.225783	T	0.38480	0.1042	N	0.08118	0	0.23003	N	0.998448	B	0.19817	0.039	B	0.15870	0.014	T	0.21415	-1.0246	10	0.36615	T	0.2	.	8.3389	0.32232	0.6349:0.2441:0.0:0.121	.	2247	Q9UPN3	MACF1_HUMAN	G	2247;682	ENSP00000362006:E2247G;ENSP00000289893:E682G	ENSP00000289893:E682G	E	+	2	0	MACF1	39571572	0.879000	0.30193	1.000000	0.80357	0.117000	0.20001	2.455000	0.44988	1.007000	0.39238	0.460000	0.39030	GAA	MACF1	-	superfamily_RNaseH-like_dom	ENSG00000127603		0.383	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	36	0.00	0	A	NM_033044		39798985	39798985	+1	no_errors	ENST00000567887	ensembl	human	putative	69_37n	missense	52	26.76	19	SNP	0.234	G
MRPS25	64432	genome.wustl.edu	37	3	15094988	15094988	+	Intron	SNP	G	G	C			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr3:15094988G>C	ENST00000253686.2	-	3	382				MRPS25_ENST00000444840.2_Intron|MRPS25_ENST00000449354.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25							mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						GAAACGGAAAGCACGGGGCAG	0.438																																						dbGAP											0													79.0	73.0	75.0					3																	15094988		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"""Mitochondrial ribosomal proteins / small subunits"""	14511	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S25"""	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.242-14C>G	3.37:g.15094988G>C			B4DFJ5|B4DQG6|Q9H7P5	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.K193N	ENST00000253686.2	37	c.579	CCDS2622.1	3	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347734	0.24426	.	.	ENSG00000177463	ENST00000439011;ENST00000413194	D;D	0.95918	-3.85;-2.01	4.05	1.26	0.21427	.	.	.	.	.	D	0.92948	0.7756	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.85578	0.1238	6	0.40728	T	0.16	.	7.0399	0.25015	0.1692:0.1434:0.6874:0.0	.	.	.	.	N	193;144	ENSP00000412473:K193N;ENSP00000413438:K144N	ENSP00000413438:K144N	K	+	3	2	NR2C2	15069992	0.174000	0.23070	0.000000	0.03702	0.008000	0.06430	1.089000	0.30890	0.264000	0.21851	-0.216000	0.12614	AAG	NR2C2	-	NULL	ENSG00000177463		0.438	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000252076.2	73	0.00	0	G	NM_022497		15094988	15094988	+1	no_start_codon	ENST00000439011	ensembl	human	putative	69_37n	missense	114	21.77	32	SNP	0.001	C
PIK3C2G	5288	genome.wustl.edu	37	12	18443835	18443835	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr12:18443835A>C	ENST00000266497.5	+	3	846	c.808A>C	c.(808-810)Aag>Cag	p.K270Q	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.K270Q|PIK3C2G_ENST00000536967.1_3'UTR|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.K270Q|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.K270Q			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	270					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAATTCTGGGAAGATCTGGAG	0.333																																						dbGAP											0													82.0	74.0	76.0					12																	18443835		1831	4081	5912	-	-	-	SO:0001583	missense	0			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.808A>C	12.37:g.18443835A>C	ENSP00000266497:p.Lys270Gln		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.K270Q	ENST00000266497.5	37	c.808	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	A	12.07	1.827802	0.32329	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.07	4.07	0.47477	.	0.266959	0.27004	N	0.021402	T	0.38054	0.1026	L	0.34521	1.04	0.23602	N	0.997312	P;P;P	0.51537	0.911;0.946;0.739	B;P;B	0.49853	0.42;0.624;0.301	T	0.15235	-1.0444	10	0.39692	T	0.17	-2.7579	9.7871	0.40684	1.0:0.0:0.0:0.0	.	269;270;270	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	Q	270	ENSP00000443850:K270Q;ENSP00000404845:K270Q;ENSP00000266497:K270Q;ENSP00000445381:K270Q	ENSP00000266497:K270Q	K	+	1	0	PIK3C2G	18335102	1.000000	0.71417	0.999000	0.59377	0.433000	0.31745	4.536000	0.60636	2.093000	0.63338	0.524000	0.50904	AAG	PIK3C2G	-	NULL	ENSG00000139144		0.333	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	79	0.00	0	A	NM_004570		18443835	18443835	+1	no_errors	ENST00000538779	ensembl	human	known	69_37n	missense	128	18.87	30	SNP	1.000	C
PTP4A2	8073	genome.wustl.edu	37	1	32384627	32384627	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr1:32384627T>A	ENST00000602725.1	-	1	457	c.40A>T	c.(40-42)Atg>Ttg	p.M14L	PTP4A2_ENST00000356536.3_Missense_Mutation_p.M14L|PTP4A2_ENST00000344035.6_Missense_Mutation_p.M14L|PTP4A2_ENST00000470404.1_Missense_Mutation_p.M14L|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000526960.1_5'Flank|PTP4A2_ENST00000457805.2_Missense_Mutation_p.M14L			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	14					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				AGAAAACGCATGTTCTCATAG	0.418																																						dbGAP											0													133.0	120.0	125.0					1																	32384627		2203	4300	6503	-	-	-	SO:0001583	missense	0			L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.40A>T	1.37:g.32384627T>A	ENSP00000473259:p.Met14Leu		A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.M14L	ENST00000602725.1	37	c.40	CCDS348.1	1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.166781	0.57476	.	.	ENSG00000184007	ENST00000344035;ENST00000356536;ENST00000457805;ENST00000470404;ENST00000468531;ENST00000534796	D;D	0.95001	-3.51;-3.58	4.8	4.8	0.61643	.	0.039656	0.85682	D	0.000000	D	0.93363	0.7884	M	0.72894	2.215	0.80722	D	1	B;B;B	0.15719	0.003;0.014;0.003	B;B;B	0.23150	0.029;0.044;0.025	D	0.91190	0.4983	10	0.40728	T	0.16	-9.6031	14.2896	0.66268	0.0:0.0:0.0:1.0	.	14;14;14	E9PGJ6;Q12974-2;Q12974	.;.;TP4A2_HUMAN	L	14	ENSP00000344909:M14L;ENSP00000409260:M14L	ENSP00000344909:M14L	M	-	1	0	PTP4A2	32157214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.252000	0.72447	1.919000	0.55581	0.528000	0.53228	ATG	PTP4A2	-	NULL	ENSG00000184007		0.418	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	PTP4A2	HGNC	protein_coding	OTTHUMT00000468092.1	95	0.00	0	T	NM_080391		32384627	32384627	-1	no_errors	ENST00000344035	ensembl	human	known	69_37n	missense	152	24.00	48	SNP	1.000	A
RASGEF1A	221002	genome.wustl.edu	37	10	43696327	43696327	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr10:43696327T>A	ENST00000395809.1	-	5	2975	c.469A>T	c.(469-471)Aca>Tca	p.T157S	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.T157S|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.T165S			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	157	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TTCTTCACTGTGCCATTCTCC	0.612																																						dbGAP											0													93.0	90.0	91.0					10																	43696327		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.469A>T	10.37:g.43696327T>A	ENSP00000379154:p.Thr157Ser		Q8TBF1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.T157S	ENST00000395809.1	37	c.469	CCDS7202.2	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.92|14.92	2.680413|2.680413	0.47886|0.47886	.|.	.|.	ENSG00000198915|ENSG00000198915	ENST00000374455|ENST00000374459;ENST00000395810;ENST00000395809	.|T;T;T	.|0.28666	.|1.6;1.6;1.6	5.18|5.18	5.18|5.18	0.71444|0.71444	.|Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.23727|0.23727	0.0574|0.0574	L|L	0.34521|0.34521	1.04|1.04	0.47862|0.47862	D|D	0.999539|0.999539	.|B;B	.|0.28208	.|0.129;0.203	.|B;B	.|0.25506	.|0.017;0.061	T|T	0.04752|0.04752	-1.0929|-1.0929	5|10	.|0.18276	.|T	.|0.48	.|.	15.0454|15.0454	0.71825|0.71825	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|157;165	.|Q8N9B8;Q8N9B8-2	.|RGF1A_HUMAN;.	L|S	58|165;157;157	.|ENSP00000363583:T165S;ENSP00000379155:T157S;ENSP00000379154:T157S	.|ENSP00000363583:T165S	H|T	-|-	2|1	0|0	RASGEF1A|RASGEF1A	43016333|43016333	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.987000|0.987000	0.75469|0.75469	3.165000|3.165000	0.50778|0.50778	1.950000|1.950000	0.56595|0.56595	0.459000|0.459000	0.35465|0.35465	CAC|ACA	RASGEF1A	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000198915		0.612	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	RASGEF1A	HGNC	protein_coding	OTTHUMT00000313989.1	49	0.00	0	T	NM_145313		43696327	43696327	-1	no_errors	ENST00000395809	ensembl	human	known	69_37n	missense	70	19.54	17	SNP	1.000	A
RPGRIP1L	23322	genome.wustl.edu	37	16	53706824	53706824	+	Silent	SNP	T	T	C			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr16:53706824T>C	ENST00000379925.3	-	8	1037	c.987A>G	c.(985-987)aaA>aaG	p.K329K	RPGRIP1L_ENST00000563746.1_Silent_p.K329K|RPGRIP1L_ENST00000262135.4_Silent_p.K329K|RPGRIP1L_ENST00000564374.1_Silent_p.K329K	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	329					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AATGTAATTGTTTCTCAAGAC	0.373																																						dbGAP											0													77.0	75.0	76.0					16																	53706824		2198	4299	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.987A>G	16.37:g.53706824T>C			A0PJ88|Q9Y2K8	Silent	SNP	pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.K329	ENST00000379925.3	37	c.987	CCDS32447.1	16																																																																																			RPGRIP1L	-	NULL	ENSG00000103494		0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	78	0.00	0	T	NM_015272		53706824	53706824	-1	no_errors	ENST00000379925	ensembl	human	known	69_37n	silent	82	20.39	21	SNP	0.921	C
SETD2	29072	genome.wustl.edu	37	3	47058736	47058737	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr3:47058736_47058737insT	ENST00000409792.3	-	21	7583_7584	c.7541_7542insA	c.(7540-7542)cacfs	p.H2514fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2514	Interaction with POLR2A.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCATAACACCGTGAGTCAGCTG	0.475			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7542dupA	3.37:g.47058737_47058737dupT	ENSP00000386759:p.His2514fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.H2514fs	ENST00000409792.3	37	c.7542_7541	CCDS2749.2	3																																																																																			SETD2	-	pfam_SRI	ENSG00000181555		0.475	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	131	0.00	0	-	NM_014159		47058736	47058737	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	frame_shift_ins	179	10.05	20	INS	0.914:1.000	T
SLC9A1	6548	genome.wustl.edu	37	1	27427750	27427750	+	Missense_Mutation	SNP	G	G	T	rs140853773		TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr1:27427750G>T	ENST00000263980.3	-	11	2629	c.2054C>A	c.(2053-2055)aCg>aAg	p.T685K	SLC9A1_ENST00000545949.1_Missense_Mutation_p.T346K|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	685					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGCTGGCACCGTCAGGTAGTT	0.652																																						dbGAP											0													59.0	62.0	61.0					1																	27427750		2203	4300	6503	-	-	-	SO:0001583	missense	0			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2054C>A	1.37:g.27427750G>T	ENSP00000263980:p.Thr685Lys		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.T685K	ENST00000263980.3	37	c.2054	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.214204	0.95104	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949;ENST00000447808	T;T	0.53423	0.62;0.62	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	M	0.68952	2.095	0.80722	D	1	B	0.24043	0.096	B	0.22880	0.042	T	0.46048	-0.9219	10	0.39692	T	0.17	.	19.1301	0.93402	0.0:0.0:1.0:0.0	.	685	P19634	SL9A1_HUMAN	K	685;189;346;106	ENSP00000263980:T685K;ENSP00000445520:T346K	ENSP00000263980:T685K	T	-	2	0	SLC9A1	27300337	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	8.602000	0.90868	2.767000	0.95098	0.655000	0.94253	ACG	SLC9A1	-	NULL	ENSG00000090020		0.652	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	31	0.00	0	G	NM_003047		27427750	27427750	-1	no_errors	ENST00000263980	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	1.000	T
ZDHHC11	79844	genome.wustl.edu	37	5	843815	843815	+	Silent	SNP	C	C	T	rs71591190	byFrequency	TCGA-E2-A1IK-01A-11D-A17G-09	TCGA-E2-A1IK-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8577ac01-1274-4bd5-ab04-380eaa78d95b	867338db-8269-4f32-b4f2-1c4b9d2566f2	g.chr5:843815C>T	ENST00000283441.8	-	4	911	c.528G>A	c.(526-528)tcG>tcA	p.S176S	ZDHHC11_ENST00000503758.2_5'Flank|ZDHHC11_ENST00000424784.2_Silent_p.S176S|ZDHHC11_ENST00000511539.1_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	176						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CAGCTGTGGCCGAGGCCACAG	0.667																																						dbGAP											0													27.0	22.0	23.0					5																	843815		2199	4276	6475	-	-	-	SO:0001819	synonymous_variant	0			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.528G>A	5.37:g.843815C>T			Q6UWR9	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S176	ENST00000283441.8	37	c.528	CCDS3857.1	5																																																																																			ZDHHC11	-	pfam_Znf_DHHC_palmitoyltrfase	ENSG00000188818		0.667	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	HGNC	protein_coding	OTTHUMT00000206681.3	15	0.00	0	C	NM_024786		843815	843815	-1	no_errors	ENST00000283441	ensembl	human	known	69_37n	silent	34	26.09	12	SNP	0.590	T
