#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
AJAP1	55966	genome.wustl.edu	37	1	4771985	4771985	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr1:4771985C>G	ENST00000378191.4	+	2	436	c.55C>G	c.(55-57)Cgc>Ggc	p.R19G	AJAP1_ENST00000378190.3_Missense_Mutation_p.R19G|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	19					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGGCCGGGCCGCCCCCTCGG	0.697																																						dbGAP											0													85.0	111.0	102.0					1																	4771985		2191	4284	6475	-	-	-	SO:0001583	missense	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.55C>G	1.37:g.4771985C>G	ENSP00000367433:p.Arg19Gly		Q9Y229	Missense_Mutation	SNP	NULL	p.R19G	ENST00000378191.4	37	c.55	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	C	8.929	0.963035	0.18583	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.43294	0.95;0.95	4.91	2.55	0.30701	.	0.890396	0.09815	N	0.752305	T	0.20577	0.0495	N	0.08118	0	0.27259	N	0.958675	B	0.02656	0.0	B	0.04013	0.001	T	0.27606	-1.0069	10	0.23302	T	0.38	-1.8125	5.0606	0.14555	0.0:0.3895:0.0:0.6105	.	19	Q9UKB5	AJAP1_HUMAN	G	19	ENSP00000367432:R19G;ENSP00000367433:R19G	ENSP00000367432:R19G	R	+	1	0	AJAP1	4671845	0.968000	0.33430	0.997000	0.53966	0.839000	0.47603	-0.034000	0.12225	0.208000	0.20626	-0.471000	0.05019	CGC	AJAP1	-	NULL	ENSG00000196581		0.697	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	32	0.00	0	C	NM_018836		4771985	4771985	+1	no_errors	ENST00000378190	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	0.990	G
ASB9	140462	genome.wustl.edu	37	X	15272920	15272920	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chrX:15272920T>C	ENST00000380488.4	-	3	494	c.221A>G	c.(220-222)cAt>cGt	p.H74R	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.H74R|ASB9_ENST00000380483.3_Missense_Mutation_p.H74R|ASB9_ENST00000546332.1_Missense_Mutation_p.H74R	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	74					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					ACAGGCTTCATGGAGTGGGGA	0.493																																						dbGAP											0													144.0	137.0	139.0					X																	15272920		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.221A>G	X.37:g.15272920T>C	ENSP00000369855:p.His74Arg		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.H74R	ENST00000380488.4	37	c.221	CCDS35208.1	X	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825775	0.71143	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.71341	-0.56;-0.54;-0.54;-0.54	5.93	5.93	0.95920	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.87638	0.2520	9	.	.	.	-27.3685	14.368	0.66820	0.0:0.0:0.0:1.0	.	74;74;74;74	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	R	74	ENSP00000369850:H74R;ENSP00000369852:H74R;ENSP00000369855:H74R;ENSP00000438943:H74R	.	H	-	2	0	ASB9	15182841	1.000000	0.71417	0.959000	0.39883	0.737000	0.42083	6.198000	0.72106	1.992000	0.58205	0.486000	0.48141	CAT	ASB9	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000102048		0.493	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB9	HGNC	protein_coding	OTTHUMT00000055844.1	266	0.37	1	T			15272920	15272920	-1	no_errors	ENST00000380488	ensembl	human	known	69_37n	missense	240	41.61	171	SNP	1.000	C
ATP10D	57205	genome.wustl.edu	37	4	47574191	47574191	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr4:47574191A>G	ENST00000273859.3	+	17	3453	c.3184A>G	c.(3184-3186)Agc>Ggc	p.S1062G		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1062					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAATGATGTTAGCATGATACA	0.468																																						dbGAP											0													277.0	237.0	251.0					4																	47574191		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3184A>G	4.37:g.47574191A>G	ENSP00000273859:p.Ser1062Gly		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S1062G	ENST00000273859.3	37	c.3184	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	A	27.4	4.826900	0.90955	.	.	ENSG00000145246	ENST00000273859	T	0.68479	-0.33	5.77	5.77	0.91146	HAD-like domain (2);	0.092642	0.85682	D	0.000000	T	0.76751	0.4031	L	0.46885	1.475	0.80722	D	1	D	0.59767	0.986	D	0.69824	0.966	T	0.78745	-0.2084	10	0.72032	D	0.01	-6.2546	15.2606	0.73617	1.0:0.0:0.0:0.0	.	1062	Q9P241	AT10D_HUMAN	G	1062	ENSP00000273859:S1062G	ENSP00000273859:S1062G	S	+	1	0	ATP10D	47268948	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.301000	0.96167	2.199000	0.70637	0.482000	0.46254	AGC	ATP10D	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000145246		0.468	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	177	0.00	0	A	NM_020453		47574191	47574191	+1	no_errors	ENST00000273859	ensembl	human	known	69_37n	missense	186	13.82	30	SNP	1.000	G
BCAR3	8412	genome.wustl.edu	37	1	94140474	94140474	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr1:94140474T>G	ENST00000370244.1	-	4	301	c.13A>C	c.(13-15)Aaa>Caa	p.K5Q	BCAR3_ENST00000260502.6_Missense_Mutation_p.K5Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.K5Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	5					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTTGCAAATTTTCCTGCAGCC	0.473																																						dbGAP											0													37.0	41.0	39.0					1																	94140474		2203	4299	6502	-	-	-	SO:0001583	missense	0			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.13A>C	1.37:g.94140474T>G	ENSP00000359264:p.Lys5Gln		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.K5Q	ENST00000370244.1	37	c.13	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.592206	0.86953	.	.	ENSG00000137936	ENST00000260502;ENST00000370244;ENST00000370243	T;T;T	0.25414	1.8;1.8;1.8	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.25938	0.0632	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.57425	0.82	T	0.03384	-1.1042	10	0.72032	D	0.01	-1.8972	15.9507	0.79835	0.0:0.0:0.0:1.0	.	5	O75815	BCAR3_HUMAN	Q	5	ENSP00000260502:K5Q;ENSP00000359264:K5Q;ENSP00000359263:K5Q	ENSP00000260502:K5Q	K	-	1	0	BCAR3	93913062	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.181000	0.71988	2.178000	0.69098	0.454000	0.30748	AAA	BCAR3	-	NULL	ENSG00000137936		0.473	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	43	0.00	0	T			94140474	94140474	-1	no_errors	ENST00000260502	ensembl	human	known	69_37n	missense	42	27.59	16	SNP	1.000	G
CDH23	64072	genome.wustl.edu	37	10	73439160	73439160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr10:73439160delC	ENST00000224721.6	+	16	1789	c.1784delC	c.(1783-1785)tccfs	p.S595fs	CDH23_ENST00000299366.7_Frame_Shift_Del_p.S635fs	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	590	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GATGAAGACTCCCCTCCCAAC	0.587																																						dbGAP											0													68.0	72.0	71.0					10																	73439160		2012	4172	6184	-	-	-	SO:0001589	frameshift_variant	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1784delC	10.37:g.73439160delC	ENSP00000224721:p.Ser595fs		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P594fs	ENST00000224721.6	37	c.1778		10																																																																																			CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	12	0.00	0	C	NM_052836		73439160	73439160	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000	-
CHD1L	9557	genome.wustl.edu	37	1	146766140	146766140	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr1:146766140G>C	ENST00000369258.4	+	22	2576	c.2556G>C	c.(2554-2556)tgG>tgC	p.W852C	CHD1L_ENST00000361293.5_Missense_Mutation_p.W571C|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.W758C|CHD1L_ENST00000369259.3_Missense_Mutation_p.W648C	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	852	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GTTTTAACTGGTATGGTACTG	0.418																																						dbGAP											0													274.0	240.0	251.0					1																	146766140		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2556G>C	1.37:g.146766140G>C	ENSP00000358262:p.Trp852Cys		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.W852C	ENST00000369258.4	37	c.2556	CCDS927.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144533	0.77888	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.7	5.7	0.88788	Appr-1-p processing (1);	0.060363	0.64402	D	0.000001	T	0.80788	0.4690	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.982	D	0.83433	0.0039	10	0.87932	D	0	.	15.3248	0.74150	0.0:0.0:1.0:0.0	.	758;648;852	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	C	758;648;852;571	ENSP00000389031:W758C;ENSP00000358263:W648C;ENSP00000358262:W852C;ENSP00000355100:W571C	ENSP00000355100:W571C	W	+	3	0	CHD1L	145232764	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.464000	0.90380	2.696000	0.92011	0.655000	0.94253	TGG	CHD1L	-	pfscan_A1pp	ENSG00000131778		0.418	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1L	HGNC	protein_coding	OTTHUMT00000040377.1	432	0.23	1	G	NM_004284		146766140	146766140	+1	no_errors	ENST00000369258	ensembl	human	known	69_37n	missense	543	19.79	134	SNP	1.000	C
CHRNB4	1143	genome.wustl.edu	37	15	78921528	78921528	+	Silent	SNP	G	G	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr15:78921528G>A	ENST00000261751.3	-	5	1230	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	373					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	TGGAGGTGGCGGTGGCCTCGG	0.642																																						dbGAP											0													48.0	50.0	50.0					15																	78921528		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1119C>T	15.37:g.78921528G>A			A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T373	ENST00000261751.3	37	c.1119	CCDS10306.1	15																																																																																			CHRNB4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000117971		0.642	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	HGNC	protein_coding	OTTHUMT00000290108.1	49	0.00	0	G			78921528	78921528	-1	no_errors	ENST00000261751	ensembl	human	known	69_37n	silent	24	50.00	24	SNP	0.000	A
CHST11	50515	genome.wustl.edu	37	12	105151386	105151386	+	Silent	SNP	C	C	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr12:105151386C>T	ENST00000303694.5	+	3	1303	c.864C>T	c.(862-864)taC>taT	p.Y288Y	CHST11_ENST00000549260.1_Silent_p.Y283Y	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	288					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ATTCTAATTACGTCCTGCAGC	0.502																																						dbGAP											0													117.0	101.0	106.0					12																	105151386		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.864C>T	12.37:g.105151386C>T			A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	pfam_Sulfotransferase	p.Y288	ENST00000303694.5	37	c.864	CCDS9099.1	12																																																																																			CHST11	-	pfam_Sulfotransferase	ENSG00000171310		0.502	CHST11-001	KNOWN	basic|CCDS	protein_coding	CHST11	HGNC	protein_coding	OTTHUMT00000405960.2	168	0.00	0	C	NM_018413		105151386	105151386	+1	no_errors	ENST00000303694	ensembl	human	known	69_37n	silent	120	19.46	29	SNP	1.000	T
CKAP5	9793	genome.wustl.edu	37	11	46839992	46839992	+	Silent	SNP	A	A	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr11:46839992A>G	ENST00000529230.1	-	3	166	c.120T>C	c.(118-120)gaT>gaC	p.D40D	CKAP5_ENST00000415402.1_Silent_p.D40D|CKAP5_ENST00000354558.3_Silent_p.D40D|CKAP5_ENST00000312055.5_Silent_p.D40D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	40					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGCTCTTTTCATCCTTTATTT	0.358																																					Ovarian(4;85 273 2202 4844 13323)	dbGAP											0													139.0	154.0	149.0					11																	46839992		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.120T>C	11.37:g.46839992A>G			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D40	ENST00000529230.1	37	c.120	CCDS31477.1	11																																																																																			CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.358	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	242	0.00	0	A	NM_014756		46839992	46839992	-1	no_errors	ENST00000415402	ensembl	human	known	69_37n	silent	162	35.18	89	SNP	1.000	G
CLEC16A	23274	genome.wustl.edu	37	16	11076751	11076751	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr16:11076751A>T	ENST00000409790.1	+	10	1204	c.974A>T	c.(973-975)cAt>cTt	p.H325L	CLEC16A_ENST00000409552.3_Missense_Mutation_p.H323L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											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						TTAATTATACATCATGCACCG	0.438																																						dbGAP											0													102.0	95.0	97.0					16																	11076751		1874	4116	5990	-	-	-	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.974A>T	16.37:g.11076751A>T	ENSP00000387122:p.His325Leu			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.H325L	ENST00000409790.1	37	c.974	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532080	0.85812	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.46063	0.88	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.991;0.994	T	0.51545	-0.8692	10	0.30854	T	0.27	-16.2167	15.283	0.73801	1.0:0.0:0.0:0.0	.	325;323	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	L	325;325;323	ENSP00000387122:H325L	ENSP00000386495:H323L	H	+	2	0	CLEC16A	10984252	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.783000	0.85696	2.254000	0.74563	0.533000	0.62120	CAT	CLEC16A	-	NULL	ENSG00000038532		0.438	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	45	0.00	0	A	NM_015226		11076751	11076751	+1	no_errors	ENST00000409790	ensembl	human	known	69_37n	missense	28	45.10	23	SNP	1.000	T
DICER1	23405	genome.wustl.edu	37	14	95574771	95574771	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr14:95574771C>A	ENST00000526495.1	-	17	2617	c.2326G>T	c.(2326-2328)Gtt>Ttt	p.V776F	DICER1_ENST00000541352.1_Missense_Mutation_p.V776F|DICER1_ENST00000343455.3_Missense_Mutation_p.V776F|DICER1_ENST00000393063.1_Missense_Mutation_p.V776F|DICER1_ENST00000527414.1_Missense_Mutation_p.V776F|DICER1_ENST00000556045.1_5'Flank			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	776					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTAGTTAAAACCATTCCTATC	0.433			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													dbGAP	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													149.0	135.0	140.0					14																	95574771		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2326G>T	14.37:g.95574771C>A	ENSP00000437256:p.Val776Phe		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.V776F	ENST00000526495.1	37	c.2326	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.193543	0.94960	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.63	5.65	5.65	0.86999	.	0.055904	0.64402	D	0.000001	T	0.70378	0.3217	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.65084	-0.6254	10	0.33940	T	0.23	-17.017	20.0965	0.97849	0.0:1.0:0.0:0.0	.	776	Q9UPY3	DICER_HUMAN	F	776	ENSP00000343745:V776F;ENSP00000437256:V776F;ENSP00000376783:V776F;ENSP00000435681:V776F;ENSP00000444719:V776F	ENSP00000343745:V776F	V	-	1	0	DICER1	94644524	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.556000	0.82233	2.824000	0.97209	0.655000	0.94253	GTT	DICER1	-	NULL	ENSG00000100697		0.433	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	189	0.00	0	C			95574771	95574771	-1	no_errors	ENST00000343455	ensembl	human	known	69_37n	missense	147	20.54	38	SNP	1.000	A
DMBT1	1755	genome.wustl.edu	37	10	124402730	124402730	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr10:124402730T>A	ENST00000338354.3	+	53	7164	c.7058T>A	c.(7057-7059)tTc>tAc	p.F2353Y	DMBT1_ENST00000368956.2_Missense_Mutation_p.F1725Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.F2343Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.F1073Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.F2343Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.F2353Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.F1725Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2353	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGAACCGCTTCCCCTCCGTG	0.582																																					Ovarian(182;93 2026 18125 22222 38972)	dbGAP											0													126.0	132.0	130.0					10																	124402730		2069	4215	6284	-	-	-	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7058T>A	10.37:g.124402730T>A	ENSP00000342210:p.Phe2353Tyr		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt	p.F2482Y	ENST00000338354.3	37	c.7445		10	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477927	0.26511	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.28	-0.309	0.12769	Zona pellucida sperm-binding protein (3);	0.614226	0.13431	U	0.388388	T	0.56906	0.2017	N	0.04260	-0.245	0.09310	N	1	B;P;B;B;B;B;B	0.49559	0.42;0.925;0.063;0.1;0.138;0.1;0.122	B;B;B;B;B;B;B	0.43478	0.061;0.421;0.022;0.061;0.033;0.061;0.1	T	0.53968	-0.8363	10	0.27082	T	0.32	.	6.0732	0.19901	0.4951:0.083:0.0:0.4219	.	1073;2333;1602;2482;1725;2343;2353	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	Y	2353;2482;2353;2353;2353;2352;1725;2343;1725;1725;2353;2343;1725;499;1073	ENSP00000342210:F2353Y;ENSP00000343175:F2343Y;ENSP00000327747:F1725Y;ENSP00000357905:F2353Y;ENSP00000357951:F2343Y;ENSP00000357952:F1725Y;ENSP00000352593:F1073Y	ENSP00000331522:F1725Y	F	+	2	0	DMBT1	124392720	0.000000	0.05858	1.000000	0.80357	0.813000	0.45954	0.768000	0.26590	0.325000	0.23359	-0.250000	0.11733	TTC	DMBT1	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000187908		0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	89	0.00	0	T	NM_004406		124402730	124402730	+1	no_errors	ENST00000368915	ensembl	human	known	69_37n	missense	81	15.62	15	SNP	0.051	A
ERBB2	2064	genome.wustl.edu	37	17	37868205	37868205	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr17:37868205G>C	ENST00000269571.5	+	8	1085	c.926G>C	c.(925-927)gGa>gCa	p.G309A	ERBB2_ENST00000540042.1_Missense_Mutation_p.G279A|ERBB2_ENST00000584450.1_Missense_Mutation_p.G309A|ERBB2_ENST00000578199.1_Missense_Mutation_p.G279A|ERBB2_ENST00000541774.1_Missense_Mutation_p.G294A|ERBB2_ENST00000445658.2_Missense_Mutation_p.G33A|ERBB2_ENST00000584601.1_Missense_Mutation_p.G279A|ERBB2_ENST00000406381.2_Missense_Mutation_p.G279A|ERBB2_ENST00000540147.1_Missense_Mutation_p.G279A			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	309					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.G309E(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ACGGACGTGGGATCCTGCACC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												dbGAP		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	1	Substitution - Missense(1)	breast(1)											258.0	210.0	226.0					17																	37868205		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.926G>C	17.37:g.37868205G>C	ENSP00000269571:p.Gly309Ala		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G309A	ENST00000269571.5	37	c.926	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907330	0.33628	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.80518	0.4638	L	0.59912	1.85	0.45867	D	0.998727	D;D;B;D;D	0.89917	0.996;1.0;0.246;0.998;0.982	D;D;B;D;D	0.85130	0.973;0.997;0.046;0.995;0.931	T	0.80839	-0.1203	9	0.72032	D	0.01	.	18.8848	0.92372	0.0:0.0:1.0:0.0	.	33;279;294;309;309	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	A	279;294;33;309;279;279	ENSP00000385185:G279A;ENSP00000446466:G294A;ENSP00000404047:G33A;ENSP00000269571:G309A;ENSP00000443562:G279A;ENSP00000446382:G279A	ENSP00000269571:G309A	G	+	2	0	ERBB2	35121731	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	6.669000	0.74462	2.766000	0.95052	0.491000	0.48974	GGA	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt	ENSG00000141736		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	136	0.00	0	G			37868205	37868205	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	79	13.19	12	SNP	1.000	C
DNAH17	8632	genome.wustl.edu	37	17	76459120	76459120	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr17:76459120C>T	ENST00000585328.1	-	57	9089	c.8965G>A	c.(8965-8967)Gtg>Atg	p.V2989M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V2980M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2980	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGGTGTGCACGTAGGACATG	0.522																																						dbGAP											0													146.0	111.0	123.0					17																	76459120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8965G>A	17.37:g.76459120C>T	ENSP00000465516:p.Val2989Met		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.V2980M	ENST00000585328.1	37	c.8938		17	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453714	0.84209	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.56611	0.45	4.91	4.91	0.64330	.	0.291939	0.24532	N	0.037706	T	0.68531	0.3011	M	0.73319	2.225	0.45284	D	0.998281	.	.	.	.	.	.	T	0.70132	-0.4956	8	0.48119	T	0.1	.	17.6869	0.88258	0.0:1.0:0.0:0.0	.	.	.	.	M	2989;2980	ENSP00000374490:V2980M	ENSP00000300671:V2989M	V	-	1	0	DNAH17	73970715	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.387000	0.79785	2.277000	0.76020	0.555000	0.69702	GTG	DNAH17	-	NULL	ENSG00000187775		0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	50	0.00	0	C	NM_173628		76459120	76459120	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	1.000	T
FAM169A	26049	genome.wustl.edu	37	5	74096704	74096704	+	Splice_Site	SNP	C	C	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr5:74096704C>G	ENST00000389156.4	-	10	1194		c.e10+1		FAM169A_ENST00000510496.1_Splice_Site|FAM169A_ENST00000380515.3_Splice_Site	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A							membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						caatTATTTACTTGTTTATTG	0.264																																						dbGAP											0													85.0	77.0	80.0					5																	74096704		1787	4066	5853	-	-	-	SO:0001630	splice_region_variant	0				CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1103+1G>C	5.37:g.74096704C>G			A8K1T9|Q6MZT0|Q9H989	Splice_Site	SNP	-	e9+1	ENST00000389156.4	37	c.1103+1	CCDS43330.1	5	.	.	.	.	.	.	.	.	.	.	C	9.162	1.019009	0.19355	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	.	.	.	5.52	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3698	0.32408	0.154:0.7665:0.0:0.0795	.	.	.	.	.	-1	.	.	.	-	.	.	FAM169A	74132460	1.000000	0.71417	0.986000	0.45419	0.206000	0.24218	2.852000	0.48310	1.452000	0.47756	0.655000	0.94253	.	FAM169A	-	-	ENSG00000198780		0.264	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169A	HGNC	protein_coding	OTTHUMT00000371092.2	268	0.37	1	C		Intron	74096704	74096704	-1	no_errors	ENST00000389156	ensembl	human	known	69_37n	splice_site	214	25.69	74	SNP	1.000	G
FRMPD4	9758	genome.wustl.edu	37	X	12627986	12627986	+	Missense_Mutation	SNP	G	G	A	rs34403445		TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chrX:12627986G>A	ENST00000380682.1	+	3	811	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	102	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTGGTCGTTCGCTCAGTAACA	0.522																																						dbGAP											0													116.0	97.0	104.0					X																	12627986		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.305G>A	X.37:g.12627986G>A	ENSP00000370057:p.Arg102His		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.R102H	ENST00000380682.1	37	c.305	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275577	0.80580	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.27104	1.69	5.11	4.24	0.50183	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	M	0.75777	2.31	0.48341	D	0.999634	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	T	0.55798	-0.8084	10	0.66056	D	0.02	.	14.9156	0.70795	0.0:0.14:0.86:0.0	.	94;102	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	H	102;93;91	ENSP00000370057:R102H	ENSP00000304583:R91H	R	+	2	0	FRMPD4	12537907	1.000000	0.71417	0.907000	0.35723	0.904000	0.53231	9.216000	0.95154	0.935000	0.37341	0.600000	0.82982	CGC	FRMPD4	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000169933		0.522	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	99	0.00	0	G	XM_045712		12627986	12627986	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	123	37.56	74	SNP	1.000	A
GLT8D1	55830	genome.wustl.edu	37	3	52729266	52729266	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr3:52729266G>C	ENST00000407584.3	-	10	1715	c.865C>G	c.(865-867)Ctt>Gtt	p.L289V	GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000491606.1_Missense_Mutation_p.L289V|GLT8D1_ENST00000266014.5_Missense_Mutation_p.L289V|SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000478968.2_Missense_Mutation_p.L289V|GLT8D1_ENST00000394783.3_Missense_Mutation_p.L289V	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	289						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AATACGATAAGCAGAGGAGGT	0.423																																						dbGAP											0													232.0	218.0	223.0					3																	52729266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.865C>G	3.37:g.52729266G>C	ENSP00000385730:p.Leu289Val		Q7Z4D1|Q8N2J6|Q9P0I5	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.L289V	ENST00000407584.3	37	c.865	CCDS2862.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018053	0.75275	.	.	ENSG00000016864	ENST00000478968;ENST00000394783;ENST00000407584;ENST00000266014;ENST00000491606;ENST00000394786	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.65	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	M	0.84156	2.68	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.58691	-0.7592	10	0.87932	D	0	-12.2929	15.0734	0.72056	0.0685:0.0:0.9315:0.0	.	289	Q68CQ7	GL8D1_HUMAN	V	289;289;289;289;289;120	ENSP00000419612:L289V;ENSP00000378263:L289V;ENSP00000385730:L289V;ENSP00000266014:L289V;ENSP00000418853:L289V	ENSP00000266014:L289V	L	-	1	0	GLT8D1	52704306	1.000000	0.71417	0.679000	0.29978	0.992000	0.81027	4.558000	0.60789	1.526000	0.49068	0.655000	0.94253	CTT	GLT8D1	-	pfam_Glyco_trans_8	ENSG00000016864		0.423	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D1	HGNC	protein_coding	OTTHUMT00000352065.3	173	0.00	0	G	NM_152932		52729266	52729266	-1	no_errors	ENST00000266014	ensembl	human	known	69_37n	missense	24	80.65	100	SNP	1.000	C
GPHB5	122876	genome.wustl.edu	37	14	63784514	63784514	+	RNA	SNP	G	G	C			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr14:63784514G>C	ENST00000539258.1	-	0	106							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		GCCATAGCCAGCCAGAAGGAG	0.587																																						dbGAP											0													42.0	46.0	45.0					14																	63784514		2029	4171	6200	-	-	-			0			AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784514G>C			Q6NTD0|Q8NFW2	RNA	SNP	-	NULL	ENST00000539258.1	37	NULL		14																																																																																			GPHB5	-	-	ENSG00000179600		0.587	GPHB5-001	KNOWN	basic	processed_transcript	GPHB5	HGNC	processed_transcript	OTTHUMT00000400582.1	58	0.00	0	G	NM_145171		63784514	63784514	-1	no_errors	ENST00000314140	ensembl	human	known	69_37n	rna	46	28.12	18	SNP	0.909	C
GPR50	9248	genome.wustl.edu	37	X	150348636	150348636	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chrX:150348636G>T	ENST00000218316.3	+	2	650	c.581G>T	c.(580-582)tGc>tTc	p.C194F	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	194					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATCGTCTGCATCCACTTC	0.547																																						dbGAP											0													254.0	229.0	238.0					X																	150348636		2168	4244	6412	-	-	-	SO:0001583	missense	0			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.581G>T	X.37:g.150348636G>T	ENSP00000218316:p.Cys194Phe		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mel_rcpt_1X,prints_7TM_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.C194F	ENST00000218316.3	37	c.581	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368940	0.24771	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.70516	-0.49	3.89	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.241672	0.41001	D	0.000966	T	0.44787	0.1310	N	0.05124	-0.11	0.42291	D	0.992131	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.39921	-0.9590	10	0.37606	T	0.19	-17.137	7.4772	0.27382	0.0:0.0:0.5974:0.4026	.	147;194	F5H1S3;Q13585	.;MTR1L_HUMAN	F	147;194	ENSP00000218316:C194F	ENSP00000218316:C194F	C	+	2	0	GPR50	150099294	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.493000	0.60341	1.898000	0.54952	0.523000	0.50628	TGC	GPR50	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Melatonin_rcpt	ENSG00000102195		0.547	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	303	0.00	0	G	NM_004224		150348636	150348636	+1	no_errors	ENST00000218316	ensembl	human	known	69_37n	missense	189	46.00	161	SNP	1.000	T
GRHL2	79977	genome.wustl.edu	37	8	102570972	102570972	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr8:102570972C>T	ENST00000251808.3	+	4	948	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	GRHL2_ENST00000395927.1_Missense_Mutation_p.L188F	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	204					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAGCGCCTATCTCAAAGACGA	0.592																																						dbGAP											0													44.0	39.0	41.0					8																	102570972		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.610C>T	8.37:g.102570972C>T	ENSP00000251808:p.Leu204Phe		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.L204F	ENST00000251808.3	37	c.610	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535193	0.27475	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12774	2.65;2.66	5.33	4.46	0.54185	.	0.330232	0.32190	N	0.006452	T	0.19287	0.0463	L	0.36672	1.1	0.35957	D	0.834353	D;P	0.57899	0.981;0.69	P;B	0.55161	0.77;0.321	T	0.12811	-1.0533	10	0.48119	T	0.1	-13.6416	10.1699	0.42904	0.0:0.7882:0.1374:0.0744	.	204;204	B4DL28;Q6ISB3	.;GRHL2_HUMAN	F	204;188;204	ENSP00000251808:L204F;ENSP00000379260:L188F	ENSP00000251808:L204F	L	+	1	0	GRHL2	102640148	1.000000	0.71417	0.995000	0.50966	0.301000	0.27625	2.449000	0.44935	1.235000	0.43724	0.643000	0.83706	CTC	GRHL2	-	NULL	ENSG00000083307		0.592	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	76	0.00	0	C	NM_024915		102570972	102570972	+1	no_errors	ENST00000251808	ensembl	human	known	69_37n	missense	88	63.71	158	SNP	0.998	T
GRIN2A	2903	genome.wustl.edu	37	16	9858117	9858117	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr16:9858117G>T	ENST00000396573.2	-	14	3593	c.3284C>A	c.(3283-3285)cCc>cAc	p.P1095H	GRIN2A_ENST00000535259.1_Missense_Mutation_p.P938H|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1095H|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1095H|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1095H|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1095H	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1095					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACAGTCCTTGGGGTATTTGGA	0.488																																						dbGAP											0													143.0	132.0	136.0					16																	9858117		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3284C>A	16.37:g.9858117G>T	ENSP00000379818:p.Pro1095His		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P1095H	ENST00000396573.2	37	c.3284	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456885	0.63401	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12879	2.64;2.64;2.65;2.64;2.64	5.34	5.34	0.76211	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.097212	0.64402	D	0.000001	T	0.37404	0.1002	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.957;0.974;0.999	T	0.03043	-1.1079	9	.	.	.	.	18.039	0.89313	0.0:0.0:1.0:0.0	.	938;1095;1095	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	H	1095;1095;938;1095;1095	ENSP00000379818:P1095H;ENSP00000385872:P1095H;ENSP00000441572:P938H;ENSP00000332549:P1095H;ENSP00000379820:P1095H	.	P	-	2	0	GRIN2A	9765618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.239000	0.72356	2.500000	0.84329	0.591000	0.81541	CCC	GRIN2A	-	pfam_NMDAR2_C	ENSG00000183454		0.488	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	227	0.00	0	G			9858117	9858117	-1	no_errors	ENST00000330684	ensembl	human	known	69_37n	missense	282	24.93	94	SNP	1.000	T
GRIN2B	2904	genome.wustl.edu	37	12	13906251	13906251	+	Splice_Site	SNP	C	C	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr12:13906251C>G	ENST00000609686.1	-	3	1219	c.1010G>C	c.(1009-1011)aGg>aCg	p.R337T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	337					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCACACTCACCTATTTAGCAT	0.483																																						dbGAP											0													199.0	168.0	179.0					12																	13906251		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1010+1G>C	12.37:g.13906251C>G			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R337T	ENST00000609686.1	37	c.1010	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139165	0.77775	.	.	ENSG00000150086	ENST00000279593	D	0.86230	-2.09	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.89701	0.6791	M	0.80616	2.505	0.80722	D	1	P	0.51147	0.942	P	0.44860	0.462	D	0.89993	0.4109	9	.	.	.	.	19.6034	0.95572	0.0:1.0:0.0:0.0	.	337	Q13224	NMDE2_HUMAN	T	337	ENSP00000279593:R337T	.	R	-	2	0	GRIN2B	13797518	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.365000	0.52335	2.645000	0.89757	0.655000	0.94253	AGG	GRIN2B	-	NULL	ENSG00000150086		0.483	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	347	0.00	0	C		Missense_Mutation	13906251	13906251	-1	no_errors	ENST00000279593	ensembl	human	known	69_37n	missense	347	26.48	125	SNP	1.000	G
HDAC5	10014	genome.wustl.edu	37	17	42157800	42157801	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr17:42157800_42157801insG	ENST00000393622.2	-	22	3124_3125	c.2793_2794insC	c.(2791-2796)cccattfs	p.I932fs	HDAC5_ENST00000336057.5_Frame_Shift_Ins_p.I847fs|HDAC5_ENST00000225983.6_Frame_Shift_Ins_p.I933fs|HDAC5_ENST00000586802.1_Frame_Shift_Ins_p.I932fs	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	932	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACGTCTCCAATGGGGGGGTCCA	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2794dupC	17.37:g.42157807_42157807dupG	ENSP00000377244:p.Ile932fs		C9JFV9|O60340|O60528|Q96DY4	Frame_Shift_Ins	INS	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.I932fs	ENST00000393622.2	37	c.2797_2796	CCDS45696.1	17																																																																																			HDAC5	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000108840		0.609	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1	48	0.00	0	-	NM_001015053		42157800	42157801	-1	no_errors	ENST00000225983	ensembl	human	known	69_37n	frame_shift_ins	53	10.17	6	INS	1.000:0.974	G
HUWE1	10075	genome.wustl.edu	37	X	53573461	53573461	+	Silent	SNP	G	G	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chrX:53573461G>A	ENST00000342160.3	-	69	11308	c.10851C>T	c.(10849-10851)gaC>gaT	p.D3617D	HUWE1_ENST00000262854.6_Silent_p.D3617D|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3617					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGAGAACAGTGTCCCGGGTCC	0.493																																						dbGAP											0													56.0	51.0	53.0					X																	53573461		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10851C>T	X.37:g.53573461G>A			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_HECT,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.H2651Y	ENST00000342160.3	37	c.7951	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302030	0.23736	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	T	0.73931	0.3650	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72858	-0.4165	4	.	.	.	.	17.2899	0.87153	0.0:0.0:1.0:0.0	.	.	.	.	Y	2651;455	.	.	H	-	1	0	HUWE1	53590186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.079000	0.57613	2.349000	0.79799	0.600000	0.82982	CAC	HUWE1	-	NULL	ENSG00000086758		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	90	0.00	0	G	XM_497119		53573461	53573461	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427052	ensembl	human	known	69_37n	missense	88	41.72	63	SNP	1.000	A
KIRREL2	84063	genome.wustl.edu	37	19	36357208	36357208	+	Silent	SNP	C	C	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr19:36357208C>T	ENST00000360202.5	+	15	2139	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G	APLP1_ENST00000221891.4_5'Flank|KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.G612G|APLP1_ENST00000537454.2_5'Flank|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	647	Pro-rich.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACACCTGGGCATGGTCCCCC	0.622																																						dbGAP											0													81.0	83.0	83.0					19																	36357208		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1941C>T	19.37:g.36357208C>T			C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G647	ENST00000360202.5	37	c.1941	CCDS12481.1	19																																																																																			KIRREL2	-	NULL	ENSG00000126259		0.622	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL2	HGNC	protein_coding	OTTHUMT00000452561.1	81	0.00	0	C	NM_032123		36357208	36357208	+1	no_errors	ENST00000360202	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	0.121	T
KITLG	4254	genome.wustl.edu	37	12	88939581	88939581	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr12:88939581T>C	ENST00000228280.5	-	2	259	c.77A>G	c.(76-78)gAa>gGa	p.E26G	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000347404.5_Missense_Mutation_p.E26G	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	26					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GCAGATCCCTTCAGTTTTGAC	0.383									Testicular Cancer, Familial Clustering of																													dbGAP											0													91.0	84.0	86.0					12																	88939581		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.77A>G	12.37:g.88939581T>C	ENSP00000228280:p.Glu26Gly		A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF	p.E26G	ENST00000228280.5	37	c.77	CCDS31868.1	12	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742899	0.30865	.	.	ENSG00000049130	ENST00000228280;ENST00000347404	T;T	0.63580	-0.05;-0.05	5.66	3.26	0.37387	.	0.579646	0.20119	N	0.098845	T	0.37433	0.1003	N	0.08118	0	0.23813	N	0.996778	B;B	0.27625	0.152;0.183	B;B	0.25506	0.05;0.061	T	0.17107	-1.0380	10	0.13470	T	0.59	-0.79	11.1904	0.48681	0.0:0.0:0.3267:0.6733	.	26;26	P21583-2;P21583	.;SCF_HUMAN	G	26	ENSP00000228280:E26G;ENSP00000054216:E26G	ENSP00000228280:E26G	E	-	2	0	KITLG	87463712	1.000000	0.71417	0.832000	0.32986	0.941000	0.58515	2.140000	0.42159	0.480000	0.27534	0.533000	0.62120	GAA	KITLG	-	pfam_SCF,pirsf_SCF	ENSG00000049130		0.383	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KITLG	HGNC	protein_coding	OTTHUMT00000406424.2	86	0.00	0	T	NM_003994		88939581	88939581	-1	no_errors	ENST00000228280	ensembl	human	known	69_37n	missense	115	16.06	22	SNP	0.937	C
MEI1	150365	genome.wustl.edu	37	22	42166957	42166957	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr22:42166957A>C	ENST00000401548.3	+	20	2576	c.2536A>C	c.(2536-2538)Atc>Ctc	p.I846L	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Missense_Mutation_p.I164L|MEI1_ENST00000400107.1_Missense_Mutation_p.I214L	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCCTGCTCATCTTGCTGGT	0.537																																						dbGAP											0													153.0	147.0	149.0					22																	42166957		2011	4179	6190	-	-	-	SO:0001583	missense	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2536A>C	22.37:g.42166957A>C	ENSP00000384115:p.Ile846Leu			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I846L	ENST00000401548.3	37	c.2536	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	A	16.37	3.105287	0.56291	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000540880	T;T;T	0.62941	0.01;-0.01;1.53	4.81	4.81	0.61882	.	0.056569	0.64402	D	0.000002	T	0.62672	0.2447	M	0.61703	1.905	0.80722	D	1	P;P;P;B	0.52316	0.952;0.713;0.713;0.194	P;B;B;B	0.45639	0.488;0.424;0.424;0.107	T	0.67492	-0.5657	10	0.59425	D	0.04	-5.8337	11.9016	0.52687	1.0:0.0:0.0:0.0	.	214;89;214;846	Q5TIA1-3;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;MEI1_HUMAN	L	846;214;164	ENSP00000384115:I846L;ENSP00000382978:I214L;ENSP00000437436:I164L	ENSP00000382978:I214L	I	+	1	0	MEI1	40496903	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	3.649000	0.54417	1.808000	0.52836	0.533000	0.62120	ATC	MEI1	-	superfamily_ARM-type_fold	ENSG00000167077		0.537	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	299	0.33	1	A	NM_152513		42166957	42166957	+1	no_errors	ENST00000401548	ensembl	human	known	69_37n	missense	324	10.74	39	SNP	1.000	C
MUC20P1	651714	genome.wustl.edu	37	3	195345582	195345582	+	IGR	SNP	G	G	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr3:195345582G>A								APOD (34506 upstream) : RP11-141C7.4 (21278 downstream)																							GGGCCACGCCGCTCTGGAAAC	0.597																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															3.37:g.195345582G>A				Missense_Mutation	SNP	NULL	p.A19T		37	c.55		3	.	.	.	.	.	.	.	.	.	.	.	1.701	-0.501439	0.04261	.	.	ENSG00000176945	ENST00000381954	.	.	.	0.492	-0.984	0.10259	.	.	.	.	.	T	0.08492	0.0211	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22521	-1.0214	4	0.05721	T	0.95	.	.	.	.	.	.	.	.	T	19	.	ENSP00000371380:A19T	A	+	1	0	MUC20	196826871	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.997000	0.01470	-2.352000	0.00616	-1.385000	0.01166	GCT	MUC20	-	NULL	ENSG00000176945	0	0.597					MUC20	HGNC			25	0.00	0	G			195345582	195345582	+1	no_errors	ENST00000381954	ensembl	human	known	69_37n	missense	48	14.29	8	SNP	0.003	A
MYH2	4620	genome.wustl.edu	37	17	10436645	10436645	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr17:10436645C>A	ENST00000245503.5	-	21	2782	c.2398G>T	c.(2398-2400)Ggg>Tgg	p.G800W	MYH2_ENST00000397183.2_Missense_Mutation_p.G800W|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	800	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCAAGAACCCTCTGCACCTG	0.458																																						dbGAP											0													95.0	95.0	95.0					17																	10436645		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2398G>T	17.37:g.10436645C>A	ENSP00000245503:p.Gly800Trp		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G800W	ENST00000245503.5	37	c.2398	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850065	0.91277	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.93488	-3.23;-3.23	5.17	5.17	0.71159	.	0.000000	0.40064	U	0.001189	D	0.97663	0.9234	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98183	1.0458	10	0.62326	D	0.03	.	18.8686	0.92303	0.0:1.0:0.0:0.0	.	800	Q9UKX2	MYH2_HUMAN	W	800	ENSP00000245503:G800W;ENSP00000380367:G800W	ENSP00000245503:G800W	G	-	1	0	MYH2	10377370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.642000	0.83385	2.692000	0.91855	0.591000	0.81541	GGG	MYH2	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000125414		0.458	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	271	0.37	1	C	NM_017534		10436645	10436645	-1	no_errors	ENST00000245503	ensembl	human	known	69_37n	missense	332	19.42	80	SNP	1.000	A
NLRP10	338322	genome.wustl.edu	37	11	7982171	7982171	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr11:7982171C>A	ENST00000328600.2	-	2	1149	c.988G>T	c.(988-990)Gat>Tat	p.D330Y		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	330	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCTTCTCATCCGTGAAATAG	0.502																																						dbGAP											0													112.0	107.0	108.0					11																	7982171		2201	4296	6497	-	-	-	SO:0001583	missense	0			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.988G>T	11.37:g.7982171C>A	ENSP00000327763:p.Asp330Tyr		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D330Y	ENST00000328600.2	37	c.988	CCDS7784.1	11	.	.	.	.	.	.	.	.	.	.	C	9.616	1.132527	0.21041	.	.	ENSG00000182261	ENST00000328600	T	0.80480	-1.38	5.11	1.09	0.20402	NACHT nucleoside triphosphatase (1);	0.185639	0.26499	N	0.024025	D	0.87402	0.6168	M	0.83012	2.62	0.18873	N	0.999982	D	0.67145	0.996	D	0.72982	0.979	T	0.77807	-0.2450	10	0.87932	D	0	.	7.8482	0.29437	0.0:0.6325:0.0:0.3675	.	330	Q86W26	NAL10_HUMAN	Y	330	ENSP00000327763:D330Y	ENSP00000327763:D330Y	D	-	1	0	NLRP10	7938747	0.035000	0.19736	0.010000	0.14722	0.003000	0.03518	1.722000	0.38042	0.281000	0.22233	-0.136000	0.14681	GAT	NLRP10	-	pfscan_NACHT_NTPase	ENSG00000182261		0.502	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	HGNC	protein_coding	OTTHUMT00000385705.1	159	0.00	0	C	NM_176821		7982171	7982171	-1	no_errors	ENST00000328600	ensembl	human	known	69_37n	missense	158	17.62	34	SNP	0.117	A
NRP2	8828	genome.wustl.edu	37	2	206659554	206659554	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr2:206659554G>C	ENST00000357785.5	+	17	2584	c.2553G>C	c.(2551-2553)aaG>aaC	p.K851N	NRP2_ENST00000540841.1_Missense_Mutation_p.K834N|NRP2_ENST00000540178.1_Missense_Mutation_p.K851N|NRP2_ENST00000412873.2_Missense_Mutation_p.K834N|NRP2_ENST00000360409.3_Missense_Mutation_p.K856N			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.K856N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACAAAGAAAAGAGCTGGCTGT	0.552																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											92.0	82.0	86.0					2																	206659554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2553G>C	2.37:g.206659554G>C	ENSP00000350432:p.Lys851Asn		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.K856N	ENST00000357785.5	37	c.2568	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	G	4.064	0.009645	0.07912	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.87491	-2.22;-2.19;-2.2;-2.26;-2.26	5.93	4.13	0.48395	.	0.410884	0.30043	N	0.010553	T	0.70072	0.3182	N	0.03115	-0.41	0.80722	D	1	B;B;B	0.16396	0.017;0.007;0.009	B;B;B	0.15052	0.01;0.007;0.012	T	0.64837	-0.6313	10	0.31617	T	0.26	-26.2896	9.4105	0.38489	0.2795:0.0:0.7205:0.0	.	834;851;856	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	N	856;851;834;851;834	ENSP00000353582:K856N;ENSP00000439658:K851N;ENSP00000439261:K834N;ENSP00000350432:K851N;ENSP00000407626:K834N	ENSP00000350432:K851N	K	+	3	2	NRP2	206367799	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	2.242000	0.43106	1.533000	0.49186	0.655000	0.94253	AAG	NRP2	-	pirsf_Neuropilin	ENSG00000118257		0.552	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	110	0.00	0	G			206659554	206659554	+1	no_errors	ENST00000360409	ensembl	human	known	69_37n	missense	48	43.53	37	SNP	1.000	C
OR5H1	26341	genome.wustl.edu	37	3	97851850	97851850	+	Silent	SNP	G	G	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr3:97851850G>A	ENST00000354565.2	+	1	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S103S(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGTTTTTTTCGTTTGCAATCA	0.388																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											194.0	187.0	190.0					3																	97851850		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.309G>A	3.37:g.97851850G>A				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S103	ENST00000354565.2	37	c.309	CCDS33797.1	3																																																																																			OR5H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000231192		0.388	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	675	0.00	0	G	NM_001005338		97851850	97851850	+1	no_errors	ENST00000354565	ensembl	human	known	69_37n	silent	500	44.22	398	SNP	0.000	A
PARP11	57097	genome.wustl.edu	37	12	3939170	3939170	+	Silent	SNP	T	T	C			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr12:3939170T>C	ENST00000228820.4	-	2	177	c.33A>G	c.(31-33)aaA>aaG	p.K11K	PARP11_ENST00000447133.3_5'UTR|PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000397096.2_Silent_p.K4K	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	4							NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			ATTCTTCTGCTTTGTGAAACA	0.363																																						dbGAP											0													103.0	95.0	98.0					12																	3939170		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.33A>G	12.37:g.3939170T>C			B4DRQ0|Q68DS1|Q8N5Y9	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.K11	ENST00000228820.4	37	c.33	CCDS8523.2	12																																																																																			PARP11	-	NULL	ENSG00000111224		0.363	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP11	HGNC	protein_coding	OTTHUMT00000344213.1	106	0.00	0	T			3939170	3939170	-1	no_errors	ENST00000228820	ensembl	human	known	69_37n	silent	111	12.60	16	SNP	0.995	C
PIPSL	266971	genome.wustl.edu	37	10	95721155	95721155	+	RNA	SNP	G	G	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr10:95721155G>A	ENST00000480546.1	-	0	142					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										AGATGCCATGGGACTCTTGAT	0.552																																						dbGAP											0																																										-	-	-			0			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95721155G>A			Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.552	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	153	0.00	0	G	NR_002319		95721155	95721155	-1	no_errors	ENST00000480546	ensembl	human	putative	69_37n	rna	139	13.12	21	SNP	0.416	A
PLCB2	5330	genome.wustl.edu	37	15	40599840	40599841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr15:40599840_40599841insG	ENST00000260402.3	-	1	282_283	c.33_34insC	c.(31-36)cccaagfs	p.K12fs	PLCB2_ENST00000456256.2_Frame_Shift_Ins_p.K12fs|PLCB2_ENST00000543785.2_Frame_Shift_Ins_p.K12fs|PLCB2_ENST00000557821.1_Frame_Shift_Ins_p.K12fs	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	12					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCTTCACCTTGGGGGGCAGCA	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.34dupC	15.37:g.40599846_40599846dupG	ENSP00000260402:p.Lys12fs		A8K6J2|B9EGH5	Frame_Shift_Ins	INS	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.K11fs	ENST00000260402.3	37	c.34_33	CCDS42020.1	15																																																																																			PLCB2	-	pirsf_PLC-beta	ENSG00000137841		0.609	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	27	0.00	0	-			40599840	40599841	-1	no_errors	ENST00000260402	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.060:0.002	G
PLCZ1	89869	genome.wustl.edu	37	12	18854640	18854640	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr12:18854640C>G	ENST00000538330.1	-	5	539	c.158G>C	c.(157-159)gGt>gCt	p.G53A	PLCZ1_ENST00000266505.7_Missense_Mutation_p.G312A|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G119A|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G117A|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.G175A|PLCZ1_ENST00000447925.2_Missense_Mutation_p.G310A					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTATCAGAACCTTTTCTTTC	0.418																																						dbGAP											0													103.0	96.0	99.0					12																	18854640		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.158G>C	12.37:g.18854640C>G	ENSP00000445880:p.Gly53Ala			Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G312A	ENST00000538330.1	37	c.935		12	.	.	.	.	.	.	.	.	.	.	C	4.269	0.049000	0.08243	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242;ENST00000539072	T;T;T;T;T;T;T;T;T	0.63255	3.22;0.7;0.7;-0.03;0.7;-0.03;-0.03;0.7;-0.03	5.35	3.52	0.40303	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.251240	0.38326	N	0.001725	T	0.63943	0.2554	L	0.57536	1.79	0.09310	N	1	P;D	0.67145	0.635;0.996	B;P	0.57283	0.362;0.817	T	0.54669	-0.8259	10	0.08837	T	0.75	.	8.4762	0.33014	0.0:0.8196:0.0:0.1804	.	312;53	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	A	53;312;310;117;175;119;47;53;139	ENSP00000445880:G53A;ENSP00000266505:G312A;ENSP00000402358:G310A;ENSP00000400504:G117A;ENSP00000443349:G175A;ENSP00000445026:G119A;ENSP00000445889:G47A;ENSP00000443762:G53A;ENSP00000438629:G139A	ENSP00000266505:G312A	G	-	2	0	PLCZ1	18745907	0.012000	0.17670	0.008000	0.14137	0.019000	0.09904	0.568000	0.23623	0.741000	0.32674	0.655000	0.94253	GGT	PLCZ1	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000139151		0.418	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	145	0.00	0	C	NM_033123		18854640	18854640	-1	no_errors	ENST00000266505	ensembl	human	known	69_37n	missense	112	13.74	18	SNP	0.055	G
PLEKHH1	57475	genome.wustl.edu	37	14	68029176	68029176	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr14:68029176delA	ENST00000329153.5	+	7	960	c.828delA	c.(826-828)agafs	p.R276fs		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	276						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTACCTTCAGATGTAGTTCAG	0.572																																						dbGAP											0													67.0	81.0	76.0					14																	68029176		1940	4139	6079	-	-	-	SO:0001589	frameshift_variant	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.828delA	14.37:g.68029176delA	ENSP00000330278:p.Arg276fs		A6H8X6|Q6PJL4|Q6ZWC7	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.R276fs	ENST00000329153.5	37	c.828	CCDS45128.1	14																																																																																			PLEKHH1	-	NULL	ENSG00000054690		0.572	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	74	0.00	0	A	XM_031054		68029176	68029176	+1	no_errors	ENST00000329153	ensembl	human	known	69_37n	frame_shift_del	6	77.42	24	DEL	0.034	-
PLXNA2	5362	genome.wustl.edu	37	1	208257849	208257849	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr1:208257849C>T	ENST00000367033.3	-	10	2931	c.2174G>A	c.(2173-2175)cGa>cAa	p.R725Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	725					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGGCAGATTTCGCGCCTTAAG	0.602																																						dbGAP											0													80.0	82.0	81.0					1																	208257849		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2174G>A	1.37:g.208257849C>T	ENSP00000356000:p.Arg725Gln		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R725Q	ENST00000367033.3	37	c.2174	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.898044	0.33535	.	.	ENSG00000076356	ENST00000367033	T	0.00912	5.55	5.7	5.7	0.88788	.	.	.	.	.	T	0.01287	0.0042	L	0.54323	1.7	0.41650	D	0.989129	P	0.38535	0.635	B	0.27380	0.079	T	0.64841	-0.6312	9	0.62326	D	0.03	.	14.0368	0.64649	0.0:0.928:0.0:0.072	.	725	O75051	PLXA2_HUMAN	Q	725	ENSP00000356000:R725Q	ENSP00000356000:R725Q	R	-	2	0	PLXNA2	206324472	0.988000	0.35896	0.644000	0.29465	0.090000	0.18270	2.976000	0.49289	2.676000	0.91093	0.650000	0.86243	CGA	PLXNA2	-	NULL	ENSG00000076356		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	77	0.00	0	C	NM_025179		208257849	208257849	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	0.789	T
POU4F3	5459	genome.wustl.edu	37	5	145719165	145719165	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr5:145719165G>A	ENST00000230732.4	+	2	264	c.175G>A	c.(175-177)Gct>Act	p.A59T	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	59					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGCGCCGAAGCTCTGGCGGC	0.582																																						dbGAP											0													78.0	80.0	79.0					5																	145719165		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.175G>A	5.37:g.145719165G>A	ENSP00000230732:p.Ala59Thr		O60557|Q2M3F8	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,prints_POU,pfscan_Homeodomain,pfscan_POU_specific	p.A59T	ENST00000230732.4	37	c.175	CCDS4281.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245939	0.80024	.	.	ENSG00000091010	ENST00000230732	T	0.29917	1.55	4.63	4.63	0.57726	.	0.814670	0.10740	N	0.639545	T	0.61085	0.2319	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61103	-0.7130	10	0.72032	D	0.01	.	15.0139	0.71570	0.0:0.0:1.0:0.0	.	59	Q15319	PO4F3_HUMAN	T	59	ENSP00000230732:A59T	ENSP00000230732:A59T	A	+	1	0	POU4F3	145699358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.284000	0.95882	2.391000	0.81399	0.462000	0.41574	GCT	POU4F3	-	NULL	ENSG00000091010		0.582	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	130	0.00	0	G	NM_002700		145719165	145719165	+1	no_errors	ENST00000230732	ensembl	human	known	69_37n	missense	111	13.85	18	SNP	1.000	A
RAE1	8480	genome.wustl.edu	37	20	55949808	55949808	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr20:55949808A>G	ENST00000395841.2	+	11	1391	c.971A>G	c.(970-972)aAt>aGt	p.N324S	RAE1_ENST00000395840.2_Missense_Mutation_p.N324S|RAE1_ENST00000527947.1_Missense_Mutation_p.N324S|RAE1_ENST00000371242.2_Missense_Mutation_p.N324S	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	324					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			TGCTGTTTCAATCACAATGGA	0.493																																						dbGAP											0													130.0	115.0	120.0					20																	55949808		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.971A>G	20.37:g.55949808A>G	ENSP00000379182:p.Asn324Ser		A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N324S	ENST00000395841.2	37	c.971	CCDS13458.1	20	.	.	.	.	.	.	.	.	.	.	A	15.55	2.868022	0.51588	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	L	0.37561	1.115	0.80722	D	1	D;B;B	0.76494	0.999;0.02;0.02	D;B;B	0.73380	0.98;0.005;0.005	T	0.58301	-0.7660	10	0.09843	T	0.71	-11.0993	16.3483	0.83171	1.0:0.0:0.0:0.0	.	324;324;324	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	S	324	ENSP00000379182:N324S;ENSP00000360286:N324S;ENSP00000432609:N324S;ENSP00000379181:N324S	ENSP00000360286:N324S	N	+	2	0	RAE1	55383215	1.000000	0.71417	0.994000	0.49952	0.725000	0.41563	8.952000	0.93031	2.254000	0.74563	0.533000	0.62120	AAT	RAE1	-	superfamily_WD40_repeat_dom	ENSG00000101146		0.493	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAE1	HGNC	protein_coding	OTTHUMT00000079842.2	222	0.00	0	A			55949808	55949808	+1	no_errors	ENST00000371242	ensembl	human	known	69_37n	missense	229	12.93	34	SNP	1.000	G
RNF10	9921	genome.wustl.edu	37	12	121013640	121013640	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr12:121013640A>G	ENST00000325954.4	+	16	2707	c.2246A>G	c.(2245-2247)gAg>gGg	p.E749G	RNF10_ENST00000542701.1_3'UTR|RNF10_ENST00000413266.2_Missense_Mutation_p.E754G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	749					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCGACGGGGAGAGTGATAAT	0.438																																						dbGAP											0													173.0	178.0	176.0					12																	121013640		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2246A>G	12.37:g.121013640A>G	ENSP00000322242:p.Glu749Gly		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E754G	ENST00000325954.4	37	c.2261	CCDS9201.1	12	.	.	.	.	.	.	.	.	.	.	A	28.5	4.925407	0.92319	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000538254	D;D	0.91124	-2.79;-2.79	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.94278	0.8162	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.94583	0.7781	10	0.59425	D	0.04	.	15.4421	0.75190	1.0:0.0:0.0:0.0	.	754;749	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	G	749;749;754;84	ENSP00000322242:E749G;ENSP00000415682:E754G	ENSP00000322242:E749G	E	+	2	0	RNF10	119498023	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.714000	0.91412	2.054000	0.61138	0.533000	0.62120	GAG	RNF10	-	NULL	ENSG00000022840		0.438	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4	434	0.00	0	A			121013640	121013640	+1	no_errors	ENST00000413266	ensembl	human	known	69_37n	missense	231	32.75	113	SNP	1.000	G
RPL7	6129	genome.wustl.edu	37	8	74204933	74204933	+	Silent	SNP	G	G	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr8:74204933G>T	ENST00000352983.2	-	2	399	c.114C>A	c.(112-114)gcC>gcA	p.A38A	RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396466.1_5'UTR|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396465.1_5'UTR			P18124	RL7_HUMAN	ribosomal protein L7	38	4 X 12 AA tandem repeats.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CCATCTTTTGGGCAAACTTCT	0.443																																						dbGAP											0													84.0	90.0	88.0					8																	74204933		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.114C>A	8.37:g.74204933G>T			A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Silent	SNP	pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.A38	ENST00000352983.2	37	c.114	CCDS6212.1	8																																																																																			RPL7	-	pfam_Ribosomal_L30_N,tigrfam_Ribosomal_L7_euk	ENSG00000147604		0.443	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7	HGNC	protein_coding	OTTHUMT00000259287.1	83	0.00	0	G	NM_000971		74204933	74204933	-1	no_errors	ENST00000352983	ensembl	human	known	69_37n	silent	72	16.28	14	SNP	1.000	T
SDK2	54549	genome.wustl.edu	37	17	71427674	71427674	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr17:71427674C>A	ENST00000392650.3	-	11	1447	c.1447G>T	c.(1447-1449)Gtc>Ttc	p.V483F	SDK2_ENST00000388726.3_Missense_Mutation_p.V483F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	483	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCTCATCGACCCCCCGAGAG	0.602																																						dbGAP											0													158.0	154.0	156.0					17																	71427674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1447G>T	17.37:g.71427674C>A	ENSP00000376421:p.Val483Phe		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V483F	ENST00000392650.3	37	c.1447	CCDS45769.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.97|14.97	2.692913|2.692913	0.48202|0.48202	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000416616|ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	.|T;T	.|0.67171	.|-0.25;-0.25	4.93|4.93	4.93|4.93	0.64822|0.64822	.|Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.144851	.|0.45867	.|D	.|0.000326	T|T	0.56834|0.56834	0.2012|0.2012	N|N	0.17872|0.17872	0.535|0.535	0.43435|0.43435	D|D	0.995605|0.995605	.|B;B	.|0.30634	.|0.288;0.085	.|B;B	.|0.33568	.|0.166;0.148	T|T	0.61362|0.61362	-0.7078|-0.7078	6|10	0.87932|0.66056	D|D	0|0.02	.|.	17.729|17.729	0.88372|0.88372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|483;483	.|Q58EX2-2;Q58EX2	.|.;SDK2_HUMAN	V|F	387|107;483;483;483	.|ENSP00000376421:V483F;ENSP00000373378:V483F	ENSP00000400371:G387V|ENSP00000324967:V483F	G|V	-|-	2|1	0|0	SDK2|SDK2	68939269|68939269	0.980000|0.980000	0.34600|0.34600	0.977000|0.977000	0.42913|0.42913	0.832000|0.832000	0.47134|0.47134	5.330000|5.330000	0.65899|0.65899	2.269000|2.269000	0.75478|0.75478	0.467000|0.467000	0.42956|0.42956	GGT|GTC	SDK2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000069188		0.602	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	70	0.00	0	C	NM_019064		71427674	71427674	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	missense	59	14.49	10	SNP	0.944	A
SETD2	29072	genome.wustl.edu	37	3	47084164	47084164	+	Silent	SNP	G	G	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr3:47084164G>A	ENST00000409792.3	-	17	7167	c.7125C>T	c.(7123-7125)ctC>ctT	p.L2375L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2375					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)		GCAGATCCAAGAGATTATTTG	0.433			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													115.0	114.0	114.0					3																	47084164		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.7125C>T	3.37:g.47084164G>A			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	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.L2375	ENST00000409792.3	37	c.7125	CCDS2749.2	3																																																																																			SETD2	-	NULL	ENSG00000181555		0.433	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	168	0.00	0	G	NM_014159		47084164	47084164	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	silent	35	75.69	109	SNP	1.000	A
SLC25A28	81894	genome.wustl.edu	37	10	101370803	101370803	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr10:101370803G>C	ENST00000370495.4	-	4	926	c.898C>G	c.(898-900)Cac>Gac	p.H300D	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	300					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CCTGTAATGTGTGAGTTCAAA	0.547																																						dbGAP											0													135.0	134.0	135.0					10																	101370803		2024	4186	6210	-	-	-	SO:0001583	missense	0			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.898C>G	10.37:g.101370803G>C	ENSP00000359526:p.His300Asp		Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.H300D	ENST00000370495.4	37	c.898	CCDS41559.1	10	.	.	.	.	.	.	.	.	.	.	G	6.944	0.543949	0.13312	.	.	ENSG00000155287	ENST00000434701;ENST00000370495	T;T	0.76968	-1.06;-1.06	5.26	4.13	0.48395	Mitochondrial carrier domain (2);	0.122062	0.85682	D	0.000000	T	0.70962	0.3284	L	0.47716	1.5	0.23665	N	0.997163	B	0.22211	0.066	B	0.32393	0.145	T	0.54748	-0.8247	10	0.12103	T	0.63	-32.2295	12.3047	0.54895	0.0:0.0:0.1482:0.8518	.	300	Q96A46	MFRN2_HUMAN	D	161;300	ENSP00000399102:H161D;ENSP00000359526:H300D	ENSP00000359526:H300D	H	-	1	0	SLC25A28	101360793	0.996000	0.38824	0.993000	0.49108	0.913000	0.54294	1.358000	0.34102	1.029000	0.39812	-0.397000	0.06425	CAC	SLC25A28	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000155287		0.547	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A28	HGNC	protein_coding	OTTHUMT00000049801.1	117	0.85	1	G	NM_031212		101370803	101370803	-1	no_errors	ENST00000370495	ensembl	human	known	69_37n	missense	39	60.61	60	SNP	0.994	C
SLC30A5	64924	genome.wustl.edu	37	5	68413160	68413160	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr5:68413160T>C	ENST00000396591.3	+	11	1986	c.1376T>C	c.(1375-1377)tTa>tCa	p.L459S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	459					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGCTCTGCTTTAGTCATGGGA	0.443																																						dbGAP											0													209.0	197.0	201.0					5																	68413160		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1376T>C	5.37:g.68413160T>C	ENSP00000379836:p.Leu459Ser		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.L459S	ENST00000396591.3	37	c.1376	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441213	0.83993	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.66280	-0.2	5.44	5.44	0.79542	.	0.066385	0.64402	D	0.000008	D	0.83880	0.5350	M	0.93241	3.395	0.80722	D	1	P;D;D	0.60160	0.942;0.987;0.986	D;D;D	0.72625	0.978;0.925;0.952	D	0.88199	0.2882	10	0.87932	D	0	.	15.3146	0.74065	0.0:0.0:0.0:1.0	.	288;288;459	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	S	459;72	ENSP00000379836:L459S	ENSP00000379836:L459S	L	+	2	0	SLC30A5	68448916	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.868000	0.87116	2.287000	0.76781	0.482000	0.46254	TTA	SLC30A5	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000145740		0.443	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	219	0.00	0	T			68413160	68413160	+1	no_errors	ENST00000396591	ensembl	human	known	69_37n	missense	372	17.66	80	SNP	0.998	C
SLC7A6OS	84138	genome.wustl.edu	37	16	68337945	68337945	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr16:68337945C>A	ENST00000263997.6	-	3	680	c.662G>T	c.(661-663)aGc>aTc	p.S221I		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	221					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CCATTCTTGGCTGTAGGGCTG	0.512																																						dbGAP											0													98.0	88.0	92.0					16																	68337945		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.662G>T	16.37:g.68337945C>A	ENSP00000263997:p.Ser221Ile		Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	NULL	p.S221I	ENST00000263997.6	37	c.662	CCDS10865.1	16	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070298	0.55539	.	.	ENSG00000103061	ENST00000263997	T	0.20069	2.1	5.79	4.82	0.62117	.	0.382283	0.33477	N	0.004879	T	0.29355	0.0731	M	0.72894	2.215	0.39586	D	0.969505	D	0.53462	0.96	P	0.46110	0.504	T	0.13818	-1.0495	10	0.38643	T	0.18	-33.4588	13.0246	0.58808	0.0:0.6897:0.3103:0.0	.	221	Q96CW6	S7A6O_HUMAN	I	221	ENSP00000263997:S221I	ENSP00000263997:S221I	S	-	2	0	SLC7A6OS	66895446	0.999000	0.42202	0.965000	0.40720	0.961000	0.63080	0.952000	0.29149	1.426000	0.47256	0.555000	0.69702	AGC	SLC7A6OS	-	NULL	ENSG00000103061		0.512	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A6OS	HGNC	protein_coding	OTTHUMT00000268894.3	102	0.00	0	C	NM_032178		68337945	68337945	-1	no_errors	ENST00000263997	ensembl	human	known	69_37n	missense	69	27.37	26	SNP	0.980	A
SPTY2D1	144108	genome.wustl.edu	37	11	18636798	18636798	+	Silent	SNP	G	G	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr11:18636798G>A	ENST00000336349.5	-	3	1258	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	341	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GAGATTTTTTGGCTTTGTGCT	0.517																																						dbGAP											0													112.0	124.0	120.0					11																	18636798		2199	4293	6492	-	-	-	SO:0001819	synonymous_variant	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1023C>T	11.37:g.18636798G>A			Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Silent	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.A341	ENST00000336349.5	37	c.1023	CCDS31441.1	11																																																																																			SPTY2D1	-	NULL	ENSG00000179119		0.517	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	179	0.00	0	G	NM_194285		18636798	18636798	-1	no_errors	ENST00000336349	ensembl	human	known	69_37n	silent	112	28.66	45	SNP	1.000	A
TBC1D3P1-DHX40P1	653645	genome.wustl.edu	37	17	58093249	58093249	+	lincRNA	SNP	G	G	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr17:58093249G>A	ENST00000407042.3	-	0	275									TBC1D3P1-DHX40P1 readthrough transcribed pseudogene																		AGGCAGCTCCGTCTCACTGTA	0.667																																						dbGAP											0																																										-	-	-			0					17q23.1	2014-09-10	2012-12-07		ENSG00000267104	ENSG00000267104			42362	other	readthrough			"""TBC1D3P1-DHX40P1 readthrough (non-protein coding)"""				Standard	NR_002924		Approved		uc002iyf.2		OTTHUMG00000179977		17.37:g.58093249G>A				RNA	SNP	-	NULL	ENST00000407042.3	37	NULL		17	.	.	.	.	.	.	.	.	.	.	G	6.273	0.418450	0.11870	.	.	ENSG00000238283	ENST00000407042	.	.	.	0.0465	0.0465	0.14256	.	1.862280	0.03042	U	0.153493	T	0.29882	0.0747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.28427	-1.0044	5	0.59425	D	0.04	.	2.8888	0.05670	3.0E-4:2.0E-4:0.5055:0.494	.	.	.	.	M	55	.	ENSP00000383952:T55M	T	-	2	0	AC005702.1	55448031	0.379000	0.25123	0.106000	0.21319	0.107000	0.19398	-0.311000	0.08124	0.132000	0.18615	0.134000	0.15878	ACG	TBC1D3P1-DHX40P1	-	-	ENSG00000267104		0.667	TBC1D3P1-DHX40P1-201	KNOWN	basic	lincRNA	TBC1D3P1-DHX40P1	HGNC	lincRNA		29	0.00	0	G	NR_002924		58093249	58093249	-1	no_errors	ENST00000407042	ensembl	human	known	69_37n	rna	15	31.82	7	SNP	0.992	A
TM9SF3	56889	genome.wustl.edu	37	10	98303943	98303943	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr10:98303943T>A	ENST00000371142.4	-	9	1291	c.1075A>T	c.(1075-1077)Atg>Ttg	p.M359L	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	359						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CCAATAAACATCTGCTTTATC	0.328																																						dbGAP											0													85.0	75.0	79.0					10																	98303943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.1075A>T	10.37:g.98303943T>A	ENSP00000360184:p.Met359Leu		Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	pfam_EMP70	p.M359L	ENST00000371142.4	37	c.1075	CCDS7450.1	10	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006293	0.74932	.	.	ENSG00000077147	ENST00000371142	T	0.38887	1.11	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	L	0.58925	1.835	0.80722	D	1	P;P	0.36438	0.553;0.503	B;B	0.37692	0.256;0.238	T	0.24154	-1.0168	10	0.22109	T	0.4	-17.4847	14.5962	0.68410	0.0:0.0:0.0:1.0	.	291;359	Q8WUB5;Q9HD45	.;TM9S3_HUMAN	L	359	ENSP00000360184:M359L	ENSP00000360184:M359L	M	-	1	0	TM9SF3	98293933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.948000	0.87774	2.038000	0.60285	0.482000	0.46254	ATG	TM9SF3	-	pfam_EMP70	ENSG00000077147		0.328	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF3	HGNC	protein_coding	OTTHUMT00000049610.2	174	0.00	0	T	NM_020123		98303943	98303943	-1	no_errors	ENST00000371142	ensembl	human	known	69_37n	missense	143	17.34	30	SNP	1.000	A
TMEM14E	645843	genome.wustl.edu	37	3	152058621	152058621	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr3:152058621C>T	ENST00000408960.3	-	1	158	c.73G>A	c.(73-75)Ggt>Agt	p.G25S	MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000282486.6_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	25						integral component of membrane (GO:0016021)				lung(1)	1						CTGATCCCACCTAAAGCAGCC	0.507																																						dbGAP											0													70.0	66.0	67.0					3																	152058621		1568	3582	5150	-	-	-	SO:0001583	missense	0				CCDS43161.1	3q25.1	2011-09-15			ENSG00000221962	ENSG00000221962			34386	protein-coding gene	gene with protein product							Standard	NM_001123228		Approved		uc010hvo.3	Q6UXP3	OTTHUMG00000159652	ENST00000408960.3:c.73G>A	3.37:g.152058621C>T	ENSP00000386163:p.Gly25Ser			Missense_Mutation	SNP	pfam_UPF0136_TM	p.G25S	ENST00000408960.3	37	c.73	CCDS43161.1	3	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427440	0.43122	.	.	ENSG00000221962	ENST00000408960	T	0.61510	0.1	2.23	0.243	0.15503	.	.	.	.	.	T	0.48409	0.1498	M	0.78344	2.41	0.09310	N	0.999999	P	0.41313	0.745	B	0.31812	0.136	T	0.48139	-0.9061	9	0.87932	D	0	.	3.4812	0.07603	0.0:0.5635:0.2668:0.1698	.	25	Q6UXP3	TM14E_HUMAN	S	25	ENSP00000386163:G25S	ENSP00000386163:G25S	G	-	1	0	TMEM14E	153541311	0.003000	0.15002	0.002000	0.10522	0.081000	0.17604	0.026000	0.13599	0.035000	0.15519	0.585000	0.79938	GGT	TMEM14E	-	pfam_UPF0136_TM	ENSG00000221962		0.507	TMEM14E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM14E	HGNC	protein_coding	OTTHUMT00000356703.1	82	0.00	0	C	NM_001123228		152058621	152058621	-1	no_errors	ENST00000408960	ensembl	human	known	69_37n	missense	152	23.62	47	SNP	0.003	T
TNS3	64759	genome.wustl.edu	37	7	47333397	47333397	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr7:47333397G>A	ENST00000398879.1	-	25	4072	c.3706C>T	c.(3706-3708)Cac>Tac	p.H1236Y	TNS3_ENST00000311160.9_Missense_Mutation_p.H1236Y|TNS3_ENST00000355730.3_Missense_Mutation_p.H996Y			Q68CZ2	TENS3_HUMAN	tensin 3	1236	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATCAAAAAGTGCCGGACGAGT	0.443																																						dbGAP											0													91.0	89.0	89.0					7																	47333397		1901	4108	6009	-	-	-	SO:0001583	missense	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3706C>T	7.37:g.47333397G>A	ENSP00000381854:p.His1236Tyr		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.H1236Y	ENST00000398879.1	37	c.3706	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855180	0.91355	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	D;D;D	0.92048	-2.96;-2.96;-2.96	5.2	5.2	0.72013	SH2 motif (4);	0.237792	0.41396	D	0.000886	D	0.97670	0.9236	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.99013	1.0815	10	0.87932	D	0	-33.246	16.5929	0.84772	0.0:0.0:1.0:0.0	.	1236	Q68CZ2	TENS3_HUMAN	Y	1236;1236;996;692	ENSP00000312143:H1236Y;ENSP00000381854:H1236Y;ENSP00000347968:H996Y	ENSP00000312143:H1236Y	H	-	1	0	TNS3	47299922	1.000000	0.71417	0.878000	0.34440	0.928000	0.56348	9.337000	0.96545	2.577000	0.86979	0.655000	0.94253	CAC	TNS3	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000136205		0.443	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	172	0.00	0	G	NM_022748		47333397	47333397	-1	no_errors	ENST00000311160	ensembl	human	known	69_37n	missense	131	24.28	42	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578547	7578547	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr17:7578547delG	ENST00000269305.4	-	5	572	c.383delC	c.(382-384)cctfs	p.P128fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P128fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P128fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	128	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTGAGGGCAGGGGAGTACTG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	29	Deletion - In frame(11)|Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(3)|Unknown(1)	upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|breast(3)|urinary_tract(2)|lung(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|oesophagus(1)|prostate(1)											44.0	45.0	44.0					17																	7578547		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.383delC	17.37:g.7578547delG	ENSP00000269305:p.Pro128fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P128fs	ENST00000269305.4	37	c.383	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	56	0.00	0	G	NM_000546		7578547	7578547	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	7	80.00	44	DEL	0.106	-
TSR2	90121	genome.wustl.edu	37	X	54467178	54467179	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chrX:54467178_54467179insG	ENST00000375151.4	+	2	158_159	c.137_138insG	c.(136-141)ctggggfs	p.LG46fs		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	46					rRNA processing (GO:0006364)			p.L46L(1)		breast(1)|endometrium(3)|lung(2)	6						GCCAAGTGGCTGGGGGGTGCAG	0.619																																						dbGAP											1	Substitution - coding silent(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			BC007699	CCDS14358.1	Xp11.22	2008-10-01			ENSG00000158526	ENSG00000158526			25455	protein-coding gene	gene with protein product	"""WGG motif containing 1"""					9417904	Standard	NM_058163		Approved	DT1P1A10, RP1-112K5.2, WGG1	uc004dte.3	Q969E8	OTTHUMG00000021628	ENST00000375151.4:c.143dupG	X.37:g.54467184_54467184dupG	ENSP00000364293:p.Leu46fs			Frame_Shift_Ins	INS	pfam_Pre-rRNA_process_TSR2	p.A49fs	ENST00000375151.4	37	c.137_138	CCDS14358.1	X																																																																																			TSR2	-	pfam_Pre-rRNA_process_TSR2	ENSG00000158526		0.619	TSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR2	HGNC	protein_coding	OTTHUMT00000056802.1	10	0.00	0	-	NM_058163		54467178	54467179	+1	no_errors	ENST00000375151	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	1.000:0.998	G
TTN	7273	genome.wustl.edu	37	2	179604295	179604295	+	Silent	SNP	C	C	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr2:179604295C>A	ENST00000591111.1	-	46	12938	c.12714G>T	c.(12712-12714)ggG>ggT	p.G4238G	TTN_ENST00000460472.2_Silent_p.G4192G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Silent_p.G4317G|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.G4384G|TTN_ENST00000589042.1_Silent_p.G4555G|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0			G -> W. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAAGCAACCCCTTTAGTGA	0.413																																						dbGAP											0													95.0	93.0	93.0					2																	179604295		1886	4116	6002	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12714G>T	2.37:g.179604295C>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G4384	ENST00000591111.1	37	c.13152		2																																																																																			TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	266	0.37	1	C	NM_133378		179604295	179604295	-1	no_errors	ENST00000342175	ensembl	human	known	69_37n	silent	182	22.78	54	SNP	0.000	A
WDR5	11091	genome.wustl.edu	37	9	137021657	137021657	+	Silent	SNP	T	T	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr9:137021657T>A	ENST00000358625.3	+	13	1017	c.846T>A	c.(844-846)ctT>ctA	p.L282L	WDR5_ENST00000425041.1_Silent_p.L282L	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	282					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AGGATAACCTTGTTTACATCT	0.502																																						dbGAP											0													203.0	169.0	181.0					9																	137021657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.846T>A	9.37:g.137021657T>A			Q91VA5|Q9NWX7|Q9UGP9	Silent	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L282	ENST00000358625.3	37	c.846	CCDS6981.1	9																																																																																			WDR5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000196363		0.502	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR5	HGNC	protein_coding	OTTHUMT00000254621.1	42	0.00	0	T	NM_052821		137021657	137021657	+1	no_errors	ENST00000358625	ensembl	human	known	69_37n	silent	15	31.82	7	SNP	1.000	A
YIF1B	90522	genome.wustl.edu	37	19	38799894	38799894	+	Silent	SNP	C	C	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr19:38799894C>A	ENST00000339413.6	-	3	417	c.372G>T	c.(370-372)ctG>ctT	p.L124L	YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000592246.1_Intron|YIF1B_ENST00000392124.3_Silent_p.L93L|YIF1B_ENST00000592694.1_Silent_p.L93L|YIF1B_ENST00000337679.8_Silent_p.L121L|YIF1B_ENST00000591784.1_Silent_p.L93L|YIF1B_ENST00000591755.1_Silent_p.L121L|YIF1B_ENST00000329420.8_Silent_p.L109L	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	124						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACAGCAGGCCCAGCTTTCTGC	0.592																																						dbGAP											0													180.0	182.0	181.0					19																	38799894		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.372G>T	19.37:g.38799894C>A			H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP	pfam_Hrf1	p.W105L	ENST00000339413.6	37	c.314	CCDS33010.1	19																																																																																			YIF1B	-	pfam_Hrf1	ENSG00000167645		0.592	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1B	HGNC	protein_coding	OTTHUMT00000460511.1	56	0.00	0	C	NM_033557		38799894	38799894	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588002	ensembl	human	known	69_37n	missense	33	26.67	12	SNP	0.999	A
ZFP28	140612	genome.wustl.edu	37	19	57066546	57066546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr19:57066546G>T	ENST00000301318.3	+	8	2463	c.2392G>T	c.(2392-2394)Gga>Tga	p.G798*	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	798					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CATCCAAATTGGACACCTTAA	0.373																																					Ovarian(124;554 1662 19430 21141 52494)	dbGAP											0													112.0	110.0	111.0					19																	57066546		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2392G>T	19.37:g.57066546G>T	ENSP00000301318:p.Gly798*		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	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.G798*	ENST00000301318.3	37	c.2392	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.120488	0.97300	.	.	ENSG00000196867	ENST00000301318	.	.	.	4.32	3.19	0.36642	.	0.000000	0.43416	D	0.000563	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.7992	0.23742	0.0:0.1609:0.572:0.267	.	.	.	.	X	798	.	ENSP00000301318:G798X	G	+	1	0	ZFP28	61758358	0.000000	0.05858	0.999000	0.59377	0.996000	0.88848	0.023000	0.13533	2.396000	0.81511	0.655000	0.94253	GGA	ZFP28	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196867		0.373	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	332	0.00	0	G	NM_020828		57066546	57066546	+1	no_errors	ENST00000301318	ensembl	human	known	69_37n	nonsense	385	16.85	78	SNP	0.101	T
ZMAT1	84460	genome.wustl.edu	37	X	101152870	101152870	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chrX:101152870G>T	ENST00000372782.3	-	5	523	c.476C>A	c.(475-477)gCa>gAa	p.A159E	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.A159E	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	159						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGATGGAGATGCCTGATCATG	0.413																																						dbGAP											0													134.0	101.0	113.0					X																	101152870		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.476C>A	X.37:g.101152870G>T	ENSP00000361868:p.Ala159Glu		Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.A159E	ENST00000372782.3	37	c.476	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.489680	0.00161	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.14516	2.5;2.5	4.59	-0.726	0.11170	.	1.155360	0.06837	N	0.795051	T	0.07007	0.0178	N	0.25485	0.75	0.09310	N	0.999999	P	0.35363	0.497	B	0.23018	0.043	T	0.34700	-0.9818	10	0.30078	T	0.28	-1.2095	4.0796	0.09921	0.3259:0.3726:0.3015:0.0	.	159	Q5H9K5	ZMAT1_HUMAN	E	159	ENSP00000361868:A159E;ENSP00000437529:A159E	ENSP00000361868:A159E	A	-	2	0	ZMAT1	101039526	0.000000	0.05858	0.007000	0.13788	0.019000	0.09904	-0.214000	0.09292	-0.072000	0.12864	-0.529000	0.04317	GCA	ZMAT1	-	NULL	ENSG00000166432		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	429	0.00	0	G			101152870	101152870	-1	no_errors	ENST00000372782	ensembl	human	known	69_37n	missense	618	14.99	109	SNP	0.015	T
ZNF616	90317	genome.wustl.edu	37	19	52618711	52618711	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chr19:52618711C>A	ENST00000600228.1	-	4	1967	c.1706G>T	c.(1705-1707)aGa>aTa	p.R569I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R569K(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACTATGAATTCTCCGATGCAC	0.433																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											114.0	100.0	105.0					19																	52618711		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1706G>T	19.37:g.52618711C>A	ENSP00000471000:p.Arg569Ile		B3KRV1|Q0P658|Q658V7	Missense_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.R569I	ENST00000600228.1	37	c.1706	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219089	0.22373	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-1.69	0.08186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47322	0.1439	M	0.83953	2.67	0.18873	N	0.999985	D	0.53619	0.961	P	0.50590	0.645	T	0.41502	-0.9505	8	0.59425	D	0.04	.	1.4398	0.02352	0.201:0.4383:0.2:0.1607	.	569	Q08AN1	ZN616_HUMAN	I	569	.	ENSP00000328722:R569I	R	-	2	0	ZNF616	57310523	0.000000	0.05858	0.001000	0.08648	0.197000	0.23852	-3.135000	0.00588	-0.472000	0.06881	0.305000	0.20034	AGA	ZNF616	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204611		0.433	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	189	0.00	0	C	XM_030892		52618711	52618711	-1	no_errors	ENST00000330123	ensembl	human	known	69_37n	missense	275	27.82	106	SNP	0.204	A
ZNF711	7552	genome.wustl.edu	37	X	84525674	84525674	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A06Z-01A-11W-A019-09	TCGA-A8-A06Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f540c4f8-75b3-47d7-a7cf-53cbf7a2c814	d8d09274-b620-4783-96d1-7b1ba32f89e6	g.chrX:84525674G>T	ENST00000373165.3	+	9	1432	c.1126G>T	c.(1126-1128)Gat>Tat	p.D376Y	ZNF711_ENST00000276123.3_Missense_Mutation_p.D376Y|ZNF711_ENST00000395402.1_Missense_Mutation_p.D384Y|ZNF711_ENST00000360700.4_Missense_Mutation_p.D422Y|ZNF711_ENST00000542798.1_Missense_Mutation_p.D218Y	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	376					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AATAGGTCCTGATGGACAGCC	0.368																																						dbGAP											0													23.0	24.0	24.0					X																	84525674		2189	4187	6376	-	-	-	SO:0001583	missense	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1126G>T	X.37:g.84525674G>T	ENSP00000362260:p.Asp376Tyr		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D384Y	ENST00000373165.3	37	c.1150	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634085	0.47049	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.08193	3.12;3.2;3.2;3.13;3.15	5.24	5.24	0.73138	.	0.000000	0.43919	U	0.000517	T	0.28134	0.0694	M	0.64997	1.995	0.58432	D	0.999998	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.936	T	0.00893	-1.1524	10	0.54805	T	0.06	-16.302	17.959	0.89079	0.0:0.0:1.0:0.0	.	422;376	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	Y	384;376;376;422;218	ENSP00000378798:D384Y;ENSP00000362260:D376Y;ENSP00000276123:D376Y;ENSP00000353922:D422Y;ENSP00000442071:D218Y	ENSP00000276123:D376Y	D	+	1	0	ZNF711	84412330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.176000	0.68965	0.513000	0.50165	GAT	ZNF711	-	NULL	ENSG00000147180		0.368	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	62	0.00	0	G	NM_021998		84525674	84525674	+1	no_errors	ENST00000395402	ensembl	human	known	69_37n	missense	65	38.10	40	SNP	1.000	T
