#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
A1BG	1	genome.wustl.edu	37	19	58864179	58864179	+	Intron	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:58864179G>C	ENST00000263100.3	-	3	402				A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein							blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		ccatttgacagatgggaagat	0.562																																																	0																																										SO:0001627	intron_variant	503538				CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.340+114C>G	19.37:g.58864179G>C			A8K052|Q68CK0|Q8IYJ6|Q96P39	RNA	SNP	-	NULL	ENST00000263100.3	37	NULL	CCDS12976.1	19																																																																																			A1BG-AS1	-	-		0.562	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A1BG-AS1	HGNC	protein_coding	OTTHUMT00000466930.1	G	NM_130786		58864179	+1	no_errors	ENST00000595302	ensembl	human	known	70_37	rna	SNP	0.001	C
ABCC10	89845	genome.wustl.edu	37	6	43416925	43416925	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:43416925C>T	ENST00000372530.4	+	20	4401	c.4186C>T	c.(4186-4188)Ctc>Ttc	p.L1396F	ABCC10_ENST00000244533.3_Missense_Mutation_p.L1368F	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1396	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGCCAGGGCTCTCCTCACAGA	0.592																																																	0													87.0	86.0	86.0					6																	43416925		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4186C>T	6.37:g.43416925C>T	ENSP00000361608:p.Leu1396Phe		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L1396F	ENST00000372530.4	37	c.4186	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076018	0.76415	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.95377	-3.69;-3.69	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.96688	0.8919	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.99	D	0.97219	0.9876	10	0.87932	D	0	1.5766	19.3083	0.94173	0.0:1.0:0.0:0.0	.	1368;1396	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	F	1396;1368;152	ENSP00000361608:L1396F;ENSP00000244533:L1368F	ENSP00000244533:L1368F	L	+	1	0	ABCC10	43524903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.914000	0.56401	2.588000	0.87417	0.585000	0.79938	CTC	ABCC10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	C	NM_033450		43416925	+1	no_errors	ENST00000372530	ensembl	human	known	70_37	missense	SNP	1.000	T
ACTC1	70	genome.wustl.edu	37	15	35086946	35086946	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:35086946C>T	ENST00000290378.4	-	2	719	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	22					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCCGCAAAGCCGGCCTTCACC	0.687																																																	0													53.0	57.0	55.0					15																	35086946		2200	4297	6497	SO:0001583	missense	70			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.64G>A	15.37:g.35086946C>T	ENSP00000290378:p.Gly22Ser		P04270	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.G22S	ENST00000290378.4	37	c.64	CCDS10041.1	15	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643819	0.87859	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.99727	-6.55	4.21	4.21	0.49690	.	0.000000	0.53938	U	0.000054	D	0.99887	0.9946	H	0.99919	4.95	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	D	0.95744	0.8786	10	0.87932	D	0	.	16.9537	0.86252	0.0:1.0:0.0:0.0	.	22	P68032	ACTC_HUMAN	S	22	ENSP00000290378:G22S	ENSP00000290378:G22S	G	-	1	0	ACTC1	32874238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.050000	0.71063	2.064000	0.61679	0.561000	0.74099	GGC	ACTC1	-	pfam_Actin-like,smart_Actin-like		0.687	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTC1	HGNC	protein_coding	OTTHUMT00000251876.3	C	NM_005159		35086946	-1	no_errors	ENST00000290378	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKRD36	375248	genome.wustl.edu	37	2	97847353	97847353	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:97847353C>G	ENST00000461153.2	+	25	1998	c.1754C>G	c.(1753-1755)cCa>cGa	p.P585R	ANKRD36_ENST00000420699.2_Missense_Mutation_p.P585R			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	585										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAGAAACAACCAGCTGAGAAG	0.308																																																	0													54.0	46.0	48.0					2																	97847353		692	1572	2264	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1754C>G	2.37:g.97847353C>G	ENSP00000419530:p.Pro585Arg		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P585R	ENST00000461153.2	37	c.1754	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	5.952	0.359717	0.11239	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.76060	-0.99;-0.99	1.25	0.308	0.15815	.	.	.	.	.	T	0.75561	0.3866	L	0.39898	1.24	0.09310	N	1	D;D	0.89917	0.985;1.0	P;D	0.91635	0.53;0.999	T	0.61212	-0.7108	9	0.51188	T	0.08	.	3.4209	0.07393	0.0:0.7154:0.0:0.2846	.	585;52	A6QL64;Q5JPF3-3	AN36A_HUMAN;.	R	585	ENSP00000419530:P585R;ENSP00000391950:P585R	ENSP00000391950:P585R	P	+	2	0	ANKRD36	97211080	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	-0.045000	0.12003	0.086000	0.17137	0.184000	0.17185	CCA	ANKRD36	-	NULL		0.308	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	C			97847353	+1	no_errors	ENST00000420699	ensembl	human	known	70_37	missense	SNP	0.006	G
APOF	319	genome.wustl.edu	37	12	56755762	56755762	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:56755762G>A	ENST00000398189.3	-	2	305	c.228C>T	c.(226-228)ttC>ttT	p.F76F	STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000557235.1_5'Flank|APOF_ENST00000541105.1_Silent_p.F58F|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	76					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						CCATGTGGCTGAAACCAGGCA	0.532																																																	0													75.0	78.0	77.0					12																	56755762		2033	4186	6219	SO:0001819	synonymous_variant	319			L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.228C>T	12.37:g.56755762G>A			Q8TC13	Silent	SNP	NULL	p.F76	ENST00000398189.3	37	c.228	CCDS44923.1	12																																																																																			APOF	-	NULL		0.532	APOF-001	KNOWN	basic|CCDS	protein_coding	APOF	HGNC	protein_coding	OTTHUMT00000410076.1	G			56755762	-1	no_errors	ENST00000398189	ensembl	human	known	70_37	silent	SNP	0.706	A
ARID1A	8289	genome.wustl.edu	37	1	27057981	27057982	+	Frame_Shift_Ins	INS	-	-	CAACC			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:27057981_27057982insCAACC	ENST00000324856.7	+	3	2060_2061	c.1689_1690insCAACC	c.(1690-1692)caafs	p.-565fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.-182fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.-565fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCAGCAGCAGCAACCTCAGCA	0.644			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0																																										SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1690_1694dupCAACC	1.37:g.27057982_27057986dupCAACC	ENSP00000320485:p.Pro565fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q565fs	ENST00000324856.7	37	c.1689_1690	CCDS285.1	1																																																																																			ARID1A	-	NULL		0.644	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	NM_139135		27057982	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	CAACC
ARHGEF2	9181	genome.wustl.edu	37	1	155932919	155932919	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:155932919G>A	ENST00000361247.4	-	8	879	c.780C>T	c.(778-780)ctC>ctT	p.L260L	ARHGEF2_ENST00000368316.1_Silent_p.L232L|ARHGEF2_ENST00000462460.2_Silent_p.L305L|ARHGEF2_ENST00000368315.4_Silent_p.L261L|ARHGEF2_ENST00000313695.7_Silent_p.L232L|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Silent_p.L259L	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	260	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGTGCGGAAGAGGCGGGTCA	0.582																																					Melanoma(178;35 2768 6610 28839)												0													79.0	71.0	74.0					1																	155932919		2203	4300	6503	SO:0001819	synonymous_variant	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.780C>T	1.37:g.155932919G>A			D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.L261	ENST00000361247.4	37	c.783	CCDS53376.1	1																																																																																			ARHGEF2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.582	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	G	NM_004723		155932919	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	silent	SNP	0.997	A
ARNT2	9915	genome.wustl.edu	37	15	80847445	80847445	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:80847445G>A	ENST00000303329.4	+	11	1294	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	ARNT2_ENST00000527771.1_Missense_Mutation_p.E366K|RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000533983.1_Missense_Mutation_p.E366K	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	377	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTGCCACCCTGAGGATCAAAG	0.443																																																	0													191.0	195.0	194.0					15																	80847445		2203	4300	6503	SO:0001583	missense	9915			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1129G>A	15.37:g.80847445G>A	ENSP00000307479:p.Glu377Lys		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.E377K	ENST00000303329.4	37	c.1129	CCDS32307.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.668135	0.96745	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.18174	2.23	4.75	4.75	0.60458	PAS fold-3 (1);PAS (3);	0.048849	0.85682	D	0.000000	T	0.43919	0.1269	M	0.77712	2.385	0.80722	D	1	P	0.50156	0.932	D	0.64776	0.929	T	0.43572	-0.9383	10	0.66056	D	0.02	.	17.9742	0.89122	0.0:0.0:1.0:0.0	.	377	Q9HBZ2	ARNT2_HUMAN	K	366;377;377	ENSP00000307479:E377K	ENSP00000307479:E377K	E	+	1	0	ARNT2	78634500	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	8.636000	0.91010	2.455000	0.83008	0.655000	0.94253	GAG	ARNT2	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS		0.443	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARNT2	HGNC	protein_coding	OTTHUMT00000384389.2	G			80847445	+1	no_errors	ENST00000303329	ensembl	human	known	70_37	missense	SNP	1.000	A
ATAD3A	55210	genome.wustl.edu	37	1	1454334	1454334	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:1454334G>A	ENST00000378755.5	+	5	716	c.622G>A	c.(622-624)Gag>Aag	p.E208K	ATAD3A_ENST00000378756.3_Missense_Mutation_p.E160K|ATAD3A_ENST00000536055.1_Missense_Mutation_p.E81K	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	208					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACGGAAGCAGGAGGAGTCCGT	0.587																																																	0													90.0	78.0	82.0					1																	1454334		2202	4292	6494	SO:0001583	missense	55210			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.622G>A	1.37:g.1454334G>A	ENSP00000368030:p.Glu208Lys		B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E208K	ENST00000378755.5	37	c.622	CCDS31.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.5|24.5	4.537794|4.537794	0.85917|0.85917	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055;ENST00000429957|ENST00000339113	T;T;T|.	0.17054|.	2.3;2.33;2.98|.	3.68|3.68	3.68|3.68	0.42216|0.42216	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84174|0.84174	0.5414|0.5414	M|M	0.92691|0.92691	3.335|3.335	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.63046|.	0.986;0.992|.	D;D|.	0.67548|.	0.923;0.952|.	D|D	0.88804|0.88804	0.3287|0.3287	10|5	0.87932|.	D|.	0|.	.|.	14.8162|14.8162	0.70036|0.70036	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	160;208|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	K|E	160;208;81;42|145	ENSP00000368031:E160K;ENSP00000368030:E208K;ENSP00000439290:E81K|.	ENSP00000368030:E208K|.	E|G	+|+	1|2	0|0	ATAD3A|ATAD3A	1444197|1444197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.779000|0.779000	0.44077|0.44077	8.267000|8.267000	0.89874|0.89874	1.776000|1.776000	0.52262|0.52262	0.499000|0.499000	0.49734|0.49734	GAG|GGA	ATAD3A	-	pfam_DUF3523		0.587	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	ATAD3A	HGNC	protein_coding	OTTHUMT00000001365.1	G	NM_018188		1454334	+1	no_errors	ENST00000378755	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP10B	23120	genome.wustl.edu	37	5	160071212	160071212	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:160071212C>G	ENST00000327245.5	-	9	1647	c.801G>C	c.(799-801)gaG>gaC	p.E267D		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	267					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGAAGACTCTCACAGCCAA	0.507																																																	0													113.0	115.0	114.0					5																	160071212		2015	4177	6192	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.801G>C	5.37:g.160071212C>G	ENSP00000313600:p.Glu267Asp		Q9H725	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.E267D	ENST00000327245.5	37	c.801	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443525	0.43429	.	.	ENSG00000118322	ENST00000327245	T	0.74737	-0.87	4.8	2.03	0.26663	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	N	0.20401	0.57	0.42929	D	0.994318	P;B;B;P	0.41978	0.516;0.019;0.166;0.767	B;B;B;P	0.45138	0.267;0.091;0.108;0.471	T	0.50197	-0.8856	9	.	.	.	.	5.9956	0.19491	0.0:0.5195:0.0:0.4805	.	311;267;239;267	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	D	267	ENSP00000313600:E267D	.	E	-	3	2	ATP10B	160003790	0.995000	0.38212	1.000000	0.80357	0.937000	0.57800	0.282000	0.18829	0.451000	0.26802	0.563000	0.77884	GAG	ATP10B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160071212	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	0.999	G
ATP2B4	493	genome.wustl.edu	37	1	203668790	203668790	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:203668790C>T	ENST00000357681.5	+	4	1717	c.594C>T	c.(592-594)ctC>ctT	p.L198L	ATP2B4_ENST00000367219.3_Silent_p.L198L|ATP2B4_ENST00000341360.2_Silent_p.L198L|ATP2B4_ENST00000391954.2_Silent_p.L198L|ATP2B4_ENST00000367218.3_Silent_p.L198L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	198					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACGGTCAACTCATCCAGCTCC	0.507																																																	0													188.0	173.0	178.0					1																	203668790		2203	4300	6503	SO:0001819	synonymous_variant	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.594C>T	1.37:g.203668790C>T			B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L198	ENST00000357681.5	37	c.594	CCDS1440.1	1																																																																																			ATP2B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr		0.507	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	C	NM_001001396		203668790	+1	no_errors	ENST00000357681	ensembl	human	known	70_37	silent	SNP	1.000	T
ATP6V1G1	9550	genome.wustl.edu	37	9	117350073	117350073	+	5'UTR	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr9:117350073C>T	ENST00000374050.3	+	0	48				ATP6V1G1_ENST00000473413.1_3'UTR	NM_004888.3	NP_004879.1	O75348	VATG1_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1						cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5						AAGGGGCCTTCGAGGTGCCTT	0.642																																																	0													11.0	12.0	12.0					9																	117350073		2184	4276	6460	SO:0001623	5_prime_UTR_variant	9550			AF038954	CCDS6807.1	9q33.1	2010-04-21	2006-01-13	2002-05-10	ENSG00000136888	ENSG00000136888		"""ATPases / V-type"""	864	protein-coding gene	gene with protein product		607296	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1"""	ATP6J, ATP6G1		9653160	Standard	NM_004888		Approved	ATP6GL, Vma10, ATP6G, DKFZp547P234	uc004bjc.3	O75348	OTTHUMG00000021023	ENST00000374050.3:c.-46C>T	9.37:g.117350073C>T			Q6IB33	RNA	SNP	-	NULL	ENST00000374050.3	37	NULL	CCDS6807.1	9																																																																																			ATP6V1G1	-	-		0.642	ATP6V1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1G1	HGNC	protein_coding	OTTHUMT00000055454.1	C	NM_004888		117350073	+1	no_errors	ENST00000473413	ensembl	human	known	70_37	rna	SNP	0.000	T
ATP7B	540	genome.wustl.edu	37	13	52515301	52515301	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr13:52515301C>T	ENST00000242839.4	-	16	3628	c.3472G>A	c.(3472-3474)Ggt>Agt	p.G1158S	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.G1080S|ATP7B_ENST00000400370.3_Missense_Mutation_p.G728S|ATP7B_ENST00000418097.2_Missense_Mutation_p.G1093S|ATP7B_ENST00000344297.5_Missense_Mutation_p.G951S|ATP7B_ENST00000417240.2_Missense_Mutation_p.G369S|ATP7B_ENST00000400366.3_Missense_Mutation_p.G1047S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1158					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATGGTTAAACCGTTGCGCCTC	0.483									Wilson disease																																								0													149.0	141.0	144.0					13																	52515301		2034	4177	6211	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3472G>A	13.37:g.52515301C>T	ENSP00000242839:p.Gly1158Ser		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.G1158S	ENST00000242839.4	37	c.3472	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585743	0.86748	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.15;-4.98;-4.98;-4.98	5.0	5.0	0.66597	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	N	0.21545	0.675	0.80722	D	1	D;P;D;D;D;D;D;D	0.89917	1.0;0.884;1.0;0.985;1.0;0.967;1.0;0.978	D;P;D;D;D;P;D;D	0.91635	0.999;0.883;0.975;0.929;0.982;0.866;0.982;0.924	D	0.98693	1.0697	10	0.51188	T	0.08	-28.4288	18.8402	0.92180	0.0:1.0:0.0:0.0	.	1080;1110;1093;369;728;1047;951;1158	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	S	1158;1047;951;369;1080;728;1093	ENSP00000242839:G1158S;ENSP00000383217:G1047S;ENSP00000342559:G951S;ENSP00000390360:G369S;ENSP00000416738:G1080S;ENSP00000383221:G728S;ENSP00000393343:G1093S	ENSP00000242839:G1158S	G	-	1	0	ATP7B	51413302	0.997000	0.39634	0.836000	0.33094	0.874000	0.50279	3.674000	0.54598	2.757000	0.94681	0.655000	0.94253	GGT	ATP7B	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal		0.483	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	C	NM_000053		52515301	-1	no_errors	ENST00000242839	ensembl	human	known	70_37	missense	SNP	1.000	T
ATXN2L	11273	genome.wustl.edu	37	16	28843580	28843580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr16:28843580C>A	ENST00000336783.4	+	11	1543	c.1376C>A	c.(1375-1377)tCa>tAa	p.S459*	ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.S459*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.S459*|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.S465*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.S459*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.S459*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.S459*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	459					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCCCAATCTCAGCTTCCTGT	0.592																																																	0													68.0	67.0	67.0					16																	28843580		2197	4300	6497	SO:0001587	stop_gained	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1376C>A	16.37:g.28843580C>A	ENSP00000338718:p.Ser459*		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Nonsense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.S459*	ENST00000336783.4	37	c.1376	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	38	7.124463	0.98081	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.67	5.67	0.87782	.	0.204222	0.34531	N	0.003889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1193	17.248	0.87033	0.0:1.0:0.0:0.0	.	.	.	.	X	459	.	ENSP00000315650:S459X	S	+	2	0	ATXN2L	28751081	0.983000	0.35010	0.982000	0.44146	0.988000	0.76386	2.896000	0.48656	2.677000	0.91161	0.491000	0.48974	TCA	ATXN2L	-	NULL		0.592	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	C	NM_007245		28843580	+1	no_errors	ENST00000395547	ensembl	human	known	70_37	nonsense	SNP	0.990	A
AWAT1	158833	genome.wustl.edu	37	X	69458097	69458097	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:69458097C>G	ENST00000374521.3	+	5	537	c.496C>G	c.(496-498)Ctg>Gtg	p.L166V		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	166					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CATCAACTATCTGCTGAGCCA	0.527																																																	0													114.0	90.0	98.0					X																	69458097		2203	4300	6503	SO:0001583	missense	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.496C>G	X.37:g.69458097C>G	ENSP00000363645:p.Leu166Val		Q5JT21|Q6IEE4	Missense_Mutation	SNP	pfam_DAGAT	p.L166V	ENST00000374521.3	37	c.496	CCDS35321.1	X	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045483	0.36085	.	.	ENSG00000204195	ENST00000374521	T	0.12879	2.64	4.93	2.12	0.27331	.	0.252190	0.27609	N	0.018601	T	0.11665	0.0284	L	0.43701	1.375	0.38241	D	0.941338	P	0.47604	0.898	P	0.45167	0.472	T	0.30534	-0.9975	10	0.18276	T	0.48	-0.5067	6.4607	0.21954	0.4609:0.4522:0.0:0.0869	.	166	Q58HT5	AWAT1_HUMAN	V	166	ENSP00000363645:L166V	ENSP00000363645:L166V	L	+	1	2	AWAT1	69374822	0.999000	0.42202	0.989000	0.46669	0.333000	0.28666	0.518000	0.22847	0.112000	0.17975	0.600000	0.82982	CTG	AWAT1	-	pfam_DAGAT		0.527	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	C	NM_001013579		69458097	+1	no_errors	ENST00000374521	ensembl	human	known	70_37	missense	SNP	1.000	G
BAK1	578	genome.wustl.edu	37	6	33543651	33543651	+	Missense_Mutation	SNP	C	C	T	rs1051911		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:33543651C>T	ENST00000374467.3	-	3	373	c.125G>A	c.(124-126)cGc>cAc	p.R42H	BAK1_ENST00000442998.2_Missense_Mutation_p.R42H|BAK1_ENST00000360661.5_Missense_Mutation_p.R42H	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	42			R -> H (in dbSNP:rs1051911).		activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CTGCTGATGGCGGTAAAAAAC	0.602																																																	0													89.0	80.0	83.0					6																	33543651		2203	4300	6503	SO:0001583	missense	578			U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.125G>A	6.37:g.33543651C>T	ENSP00000363591:p.Arg42His		C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam	p.R42H	ENST00000374467.3	37	c.125	CCDS4781.1	6	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747074	0.69418	.	.	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000442998;ENST00000360661	T;T;T	0.05199	3.48;3.48;3.48	3.83	2.92	0.33932	.	0.614391	0.15450	N	0.261712	T	0.09512	0.0234	L	0.55481	1.735	0.34011	D	0.651427	D;D	0.89917	1.0;1.0	D;D	0.70716	0.938;0.97	T	0.04153	-1.0973	10	0.66056	D	0.02	-10.8213	9.6727	0.40021	0.2178:0.7822:0.0:0.0	rs1051911;rs3173268	42;42	B4E0L2;Q16611	.;BAK_HUMAN	H	42	ENSP00000363591:R42H;ENSP00000391258:R42H;ENSP00000353878:R42H	ENSP00000353878:R42H	R	-	2	0	BAK1	33651629	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	3.384000	0.52478	0.912000	0.36772	0.456000	0.33151	CGC	BAK1	-	NULL		0.602	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BAK1	HGNC	protein_coding	OTTHUMT00000040202.1	C	NM_001188		33543651	-1	no_errors	ENST00000360661	ensembl	human	known	70_37	missense	SNP	1.000	T
BARD1	580	genome.wustl.edu	37	2	215645934	215645934	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:215645934C>A	ENST00000260947.4	-	4	798	c.664G>T	c.(664-666)Gca>Tca	p.A222S	BARD1_ENST00000449967.2_Missense_Mutation_p.A78S|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	222					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTTTTCTGCCTCTAAATTC	0.378									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													59.0	62.0	61.0					2																	215645934		2203	4299	6502	SO:0001583	missense	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.664G>T	2.37:g.215645934C>A	ENSP00000260947:p.Ala222Ser		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.A222S	ENST00000260947.4	37	c.664	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	C	2.594	-0.294450	0.05568	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72725	-0.68;-0.01	5.61	-2.36	0.06663	.	1.068200	0.07115	N	0.842935	T	0.58323	0.2114	L	0.57536	1.79	0.09310	N	1	B;B	0.27450	0.179;0.105	B;B	0.24269	0.052;0.036	T	0.37033	-0.9723	10	0.20519	T	0.43	0.1208	3.3795	0.07249	0.1033:0.3421:0.1072:0.4475	.	78;222	E7EUI3;Q99728	.;BARD1_HUMAN	S	222;78	ENSP00000260947:A222S;ENSP00000406752:A78S	ENSP00000260947:A222S	A	-	1	0	BARD1	215354179	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.264000	0.08658	-0.397000	0.07691	0.555000	0.69702	GCA	BARD1	-	NULL		0.378	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	C	NM_000465		215645934	-1	no_errors	ENST00000260947	ensembl	human	known	70_37	missense	SNP	0.000	A
BCL2L1	598	genome.wustl.edu	37	20	30309776	30309776	+	Silent	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:30309776G>C	ENST00000307677.4	-	2	656	c.246C>G	c.(244-246)ccC>ccG	p.P82P	BCL2L1_ENST00000376062.2_Silent_p.P82P|BCL2L1_ENST00000420653.1_Silent_p.P82P|BCL2L1_ENST00000376055.4_Silent_p.P82P	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	82					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CTGCTGCCATGGGGATCACCT	0.622																																					Colon(51;693 1004 1401 20431 21026)												0													83.0	76.0	78.0					20																	30309776		2203	4300	6503	SO:0001819	synonymous_variant	598			Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.246C>G	20.37:g.30309776G>C			E1P5L6|Q5CZ89|Q5TE65|Q92976	Silent	SNP	pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclX,prints_Blc2_fam,tigrfam_Bcl2/BclX	p.P82	ENST00000307677.4	37	c.246	CCDS13189.1	20																																																																																			BCL2L1	-	prints_Apop_reg_BclX,tigrfam_Bcl2/BclX		0.622	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCL2L1	HGNC	protein_coding	OTTHUMT00000078575.1	G	NM_138578		30309776	-1	no_errors	ENST00000307677	ensembl	human	known	70_37	silent	SNP	1.000	C
BCO2	83875	genome.wustl.edu	37	11	112064657	112064657	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:112064657C>T	ENST00000357685.5	+	4	708	c.573C>T	c.(571-573)ctC>ctT	p.L191L	AP002884.3_ENST00000532612.1_Intron|BCO2_ENST00000531169.1_Silent_p.L157L|BCO2_ENST00000532593.1_Silent_p.L86L|BCO2_ENST00000526088.1_Silent_p.L157L|BCO2_ENST00000393032.2_Silent_p.L157L|BCO2_ENST00000361053.4_Intron|BCO2_ENST00000438022.1_Silent_p.L157L			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	191					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATTACTACCTCTGCACTGAGA	0.353																																					GBM(177;1916 2099 21049 29541 39946)												0													130.0	117.0	121.0					11																	112064657		2201	4297	6498	SO:0001819	synonymous_variant	83875			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.573C>T	11.37:g.112064657C>T			B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Silent	SNP	pfam_Carotenoid_Oase	p.L191	ENST00000357685.5	37	c.573	CCDS8358.2	11																																																																																			BCO2	-	pfam_Carotenoid_Oase		0.353	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCO2	HGNC	protein_coding	OTTHUMT00000256570.3	C	NM_001037290		112064657	+1	no_errors	ENST00000357685	ensembl	human	known	70_37	silent	SNP	0.982	T
BOD1L1	259282	genome.wustl.edu	37	4	13583866	13583866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:13583866G>A	ENST00000040738.5	-	19	8722	c.8587C>T	c.(8587-8589)Cag>Tag	p.Q2863*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2863						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTCACCTCCTGAGATTTTATG	0.333																																																	0													128.0	122.0	124.0					4																	13583866		2203	4300	6503	SO:0001587	stop_gained	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8587C>T	4.37:g.13583866G>A	ENSP00000040738:p.Gln2863*		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	NULL	p.Q2863*	ENST00000040738.5	37	c.8587	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	49	15.171582	0.99825	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.61	5.61	0.85477	.	0.259916	0.27447	N	0.019335	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-5.1689	12.8486	0.57844	0.0:0.1637:0.8363:0.0	.	.	.	.	X	2863	.	ENSP00000040738:Q2863X	Q	-	1	0	BOD1L	13192964	1.000000	0.71417	0.994000	0.49952	0.717000	0.41224	3.365000	0.52335	2.631000	0.89168	0.650000	0.86243	CAG	BOD1L1	-	NULL		0.333	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	G	NM_148894		13583866	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	nonsense	SNP	0.995	A
BRCA1	672	genome.wustl.edu	37	17	41219655	41219655	+	Missense_Mutation	SNP	C	C	T	rs80356958		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:41219655C>T	ENST00000357654.3	-	16	5162	c.5044G>A	c.(5044-5046)Gaa>Aaa	p.E1682K	BRCA1_ENST00000493795.1_Missense_Mutation_p.E1635K|BRCA1_ENST00000491747.2_Missense_Mutation_p.E578K|BRCA1_ENST00000591534.1_Missense_Mutation_p.E173K|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.E540K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.E499K|BRCA1_ENST00000468300.1_Missense_Mutation_p.E578K|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.E1386K|BRCA1_ENST00000471181.2_Missense_Mutation_p.E1703K	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1682	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTAGTCTCTTCAGTAATTAGA	0.383			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													137.0	132.0	134.0					17																	41219655		2202	4300	6502	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5044G>A	17.37:g.41219655C>T	ENSP00000350283:p.Glu1682Lys		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.E1703K	ENST00000357654.3	37	c.5107	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437560	0.62955	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;T;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-1.12;-2.21;-2.21;-2.21;-2.21	5.24	5.24	0.73138	BRCT (4);	0.000000	0.52532	D	0.000065	D	0.91143	0.7211	L	0.49513	1.565	0.34144	D	0.666745	D;P;D;D;D;D;B;D	0.89917	1.0;0.874;0.998;0.962;0.998;0.999;0.102;0.999	D;B;D;P;D;D;B;D	0.81914	0.995;0.163;0.99;0.541;0.993;0.994;0.024;0.989	D	0.94032	0.7302	10	0.87932	D	0	.	14.6742	0.68967	0.0:1.0:0.0:0.0	.	578;531;577;579;578;1704;1682;1682	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	K	1682;1703;540;499;1386;578;531;1704;1635;577;578;453;532	ENSP00000350283:E1682K;ENSP00000312236:E540K;ENSP00000338007:E499K;ENSP00000310938:E1386K;ENSP00000417148:E578K;ENSP00000377294:E531K;ENSP00000418960:E1704K;ENSP00000418775:E1635K;ENSP00000420412:E578K;ENSP00000419481:E453K;ENSP00000418819:E532K	ENSP00000310938:E1386K	E	-	1	0	BRCA1	38473181	0.997000	0.39634	0.995000	0.50966	0.701000	0.40568	1.843000	0.39259	2.600000	0.87896	0.555000	0.69702	GAA	BRCA1	-	pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.383	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	C	NM_007294		41219655	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	missense	SNP	1.000	T
BSG	682	genome.wustl.edu	37	19	577916	577916	+	Silent	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:577916C>G	ENST00000333511.3	+	2	280	c.210C>G	c.(208-210)ctC>ctG	p.L70L	BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	70					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCAGCTCTGGGACGGCG	0.692																																																	0													28.0	27.0	27.0					19																	577916		2197	4295	6492	SO:0001819	synonymous_variant	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.210C>G	19.37:g.577916C>G			A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L70	ENST00000333511.3	37	c.210	CCDS12033.1	19																																																																																			BSG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.692	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	C	NM_001728		577916	+1	no_errors	ENST00000333511	ensembl	human	known	70_37	silent	SNP	0.987	G
BSG	682	genome.wustl.edu	37	19	579513	579513	+	Silent	SNP	C	C	T	rs559463709	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:579513C>T	ENST00000333511.3	+	3	499	c.429C>T	c.(427-429)ttC>ttT	p.F143F	BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000353555.4_Silent_p.F27F|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	143	Ig-like C2-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAGTCTTCACTACCGTAG	0.662																																																	0													41.0	38.0	39.0					19																	579513		2198	4296	6494	SO:0001819	synonymous_variant	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.429C>T	19.37:g.579513C>T			A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F143	ENST00000333511.3	37	c.429	CCDS12033.1	19																																																																																			BSG	-	pfscan_Ig-like		0.662	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	C	NM_001728		579513	+1	no_errors	ENST00000333511	ensembl	human	known	70_37	silent	SNP	0.000	T
BSG	682	genome.wustl.edu	37	19	579536	579536	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:579536C>G	ENST00000333511.3	+	3	522	c.452C>G	c.(451-453)tCc>tGc	p.S151C	BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000353555.4_Missense_Mutation_p.S35C|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	151	Ig-like C2-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCTTGGCTCCAAGATACTC	0.657																																																	0													53.0	47.0	49.0					19																	579536		2201	4298	6499	SO:0001583	missense	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.452C>G	19.37:g.579536C>G	ENSP00000333769:p.Ser151Cys		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S151C	ENST00000333511.3	37	c.452	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407377	0.42715	.	.	ENSG00000172270	ENST00000333511;ENST00000353555	T;T	0.15487	2.42;2.88	4.13	2.97	0.34412	Immunoglobulin-like (1);	0.422533	0.24472	N	0.038239	T	0.39384	0.1076	M	0.80183	2.485	0.09310	N	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.72625	0.963;0.93;0.978;0.93	T	0.06991	-1.0796	10	0.72032	D	0.01	-26.893	9.7468	0.40451	0.2213:0.7787:0.0:0.0	.	35;151;35;151	P35613-2;B4DNE1;Q54A51;P35613	.;.;.;BASI_HUMAN	C	151;35	ENSP00000333769:S151C;ENSP00000343809:S35C	ENSP00000333769:S151C	S	+	2	0	BSG	530536	0.006000	0.16342	0.009000	0.14445	0.004000	0.04260	2.241000	0.43097	1.867000	0.54127	0.555000	0.69702	TCC	BSG	-	pfscan_Ig-like		0.657	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	C	NM_001728		579536	+1	no_errors	ENST00000333511	ensembl	human	known	70_37	missense	SNP	0.001	G
BSN	8927	genome.wustl.edu	37	3	49694404	49694404	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:49694404G>A	ENST00000296452.4	+	5	7529	c.7415G>A	c.(7414-7416)cGg>cAg	p.R2472Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2472					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		cagaagcagcggcagAAGGCT	0.652																																																	0													13.0	16.0	15.0					3																	49694404		2190	4295	6485	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7415G>A	3.37:g.49694404G>A	ENSP00000296452:p.Arg2472Gln		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R2472Q	ENST00000296452.4	37	c.7415	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100827	0.37048	.	.	ENSG00000164061	ENST00000296452	T	0.22134	1.97	5.93	5.93	0.95920	.	0.063272	0.64402	D	0.000009	T	0.11324	0.0276	N	0.19112	0.55	0.39830	D	0.97295	P	0.47762	0.9	B	0.33568	0.166	T	0.17319	-1.0373	10	0.22109	T	0.4	-16.1952	13.2073	0.59805	0.0728:0.0:0.9272:0.0	.	2472	Q9UPA5	BSN_HUMAN	Q	2472	ENSP00000296452:R2472Q	ENSP00000296452:R2472Q	R	+	2	0	BSN	49669408	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.200000	0.58433	2.826000	0.97356	0.655000	0.94253	CGG	BSN	-	NULL		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49694404	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	1.000	A
C21orf2	755	genome.wustl.edu	37	21	45758160	45758160	+	Intron	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr21:45758160C>T	ENST00000339818.4	-	2	285				C21orf2_ENST00000325223.7_Intron|C21orf2_ENST00000397956.3_Intron|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000496321.1_5'UTR|AP001062.9_ENST00000426029.1_RNA	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2						cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		CGTCTGCTCTCGCTGACCCCC	0.597											OREG0026251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	755			Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"""nuclear encoded mitochondrial protein"", ""leucine rich repeat containing 76"""	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.78-610G>A	21.37:g.45758160C>T		934	A8MPS9|O14993|Q8N5X6|Q99837|Q99838	RNA	SNP	-	NULL	ENST00000339818.4	37	NULL	CCDS13709.1	21																																																																																			C21orf2	-	-		0.597	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C21orf2	HGNC	protein_coding	OTTHUMT00000195799.1	C	NM_004928		45758160	-1	no_errors	ENST00000496321	ensembl	human	known	70_37	rna	SNP	0.000	T
CACNA1E	777	genome.wustl.edu	37	1	181701977	181701977	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:181701977C>T	ENST00000367573.2	+	20	2755	c.2755C>T	c.(2755-2757)Cgg>Tgg	p.R919W	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R900W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R851W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R526W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R900W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R870W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R919W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	919					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGAGCCAACGGCGCAGCCG	0.647																																																	0													49.0	59.0	56.0					1																	181701977		2122	4242	6364	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2755C>T	1.37:g.181701977C>T	ENSP00000356545:p.Arg919Trp		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R919W	ENST00000367573.2	37	c.2755	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418344	0.62622	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96830	-4.05;-4.05;-4.03;-4.04;-4.14;-4.03;-4.04	4.13	-0.366	0.12545	.	1.380240	0.04180	N	0.326242	D	0.95570	0.8560	N	0.08118	0	0.51482	D	0.999928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68483	0.958;0.948;0.958	D	0.87080	0.2165	10	0.87932	D	0	.	14.9963	0.71433	0.7087:0.2913:0.0:0.0	.	900;919;919	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	W	919;900;870;851;526;900;919	ENSP00000356542:R919W;ENSP00000434814:R900W;ENSP00000350183:R870W;ENSP00000351101:R851W;ENSP00000356539:R526W;ENSP00000353222:R900W;ENSP00000356545:R919W	ENSP00000350183:R870W	R	+	1	2	CACNA1E	179968600	0.989000	0.36119	0.995000	0.50966	0.950000	0.60333	0.048000	0.14078	-0.038000	0.13624	0.555000	0.69702	CGG	CACNA1E	-	NULL		0.647	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	C	NM_000721		181701977	+1	no_errors	ENST00000367573	ensembl	human	known	70_37	missense	SNP	0.976	T
CACNA2D1	781	genome.wustl.edu	37	7	81746416	81746416	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:81746416C>T	ENST00000356253.5	-	6	725	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R157Q|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.R157Q			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	157					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AGATATTTGTCGTCCAAAATT	0.383																																																	0													154.0	138.0	144.0					7																	81746416		2203	4300	6503	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.470G>A	7.37:g.81746416C>T	ENSP00000348589:p.Arg157Gln		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R157Q	ENST00000356253.5	37	c.470		7	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053721	0.75960	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.21932	3.31;3.33;1.98	5.39	5.39	0.77823	.	0.152818	0.44483	D	0.000460	T	0.18509	0.0444	L	0.46741	1.465	0.80722	D	1	P	0.45212	0.853	B	0.33295	0.161	T	0.05386	-1.0888	10	0.22109	T	0.4	-10.689	19.1616	0.93535	0.0:1.0:0.0:0.0	.	157	P54289-2	.	Q	157	ENSP00000349320:R157Q;ENSP00000348589:R157Q;ENSP00000405395:R157Q	ENSP00000284088:R157Q	R	-	2	0	CACNA2D1	81584352	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.644000	0.67902	2.529000	0.85273	0.555000	0.69702	CGA	CACNA2D1	-	pfam_VWA_N		0.383	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		C			81746416	-1	no_errors	ENST00000356253	ensembl	human	known	70_37	missense	SNP	1.000	T
CACNG5	27091	genome.wustl.edu	37	17	64876774	64876774	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:64876774G>A	ENST00000533854.1	+	4	621	c.384G>A	c.(382-384)acG>acA	p.T128T	CACNG5_ENST00000307139.3_Silent_p.T128T|CACNG5_ENST00000169565.3_Silent_p.T128T			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	128					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.T128T(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCCACCGGACGATACTGGCCT	0.443																																																	2	Substitution - coding silent(2)	endometrium(2)											264.0	224.0	238.0					17																	64876774		2203	4300	6503	SO:0001819	synonymous_variant	27091			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.384G>A	17.37:g.64876774G>A			A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.T128	ENST00000533854.1	37	c.384	CCDS11665.1	17																																																																																			CACNG5	-	pfam_PMP22/EMP/MP20/Claudin		0.443	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	G	NM_014404, NM_145811		64876774	+1	no_errors	ENST00000169565	ensembl	human	known	70_37	silent	SNP	0.765	A
CACNG6	59285	genome.wustl.edu	37	19	54515263	54515263	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:54515263G>A	ENST00000252729.2	+	4	1193	c.603G>A	c.(601-603)caG>caA	p.Q201Q	CACNG6_ENST00000352529.1_Silent_p.Q130Q|CACNG6_ENST00000346968.2_Silent_p.Q155Q	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	201					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCCTGCTGCAGAGAGTCAGCC	0.706																																																	0													33.0	36.0	35.0					19																	54515263		2203	4300	6503	SO:0001819	synonymous_variant	59285			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.603G>A	19.37:g.54515263G>A				Silent	SNP	prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin	p.Q201	ENST00000252729.2	37	c.603	CCDS12870.1	19																																																																																			CACNG6	-	NULL		0.706	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG6	HGNC	protein_coding	OTTHUMT00000139359.1	G			54515263	+1	no_errors	ENST00000252729	ensembl	human	known	70_37	silent	SNP	0.112	A
CCDC150	284992	genome.wustl.edu	37	2	197578347	197578347	+	Intron	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:197578347G>C	ENST00000389175.4	+	17	2001				CCDC150_ENST00000409270.1_Missense_Mutation_p.E89D|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150											breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAAAATAGAGATTCTAGCCT	0.348																																																	0																																										SO:0001627	intron_variant	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1866+884G>C	2.37:g.197578347G>C			Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.E89D	ENST00000389175.4	37	c.267	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	6.913	0.538108	0.13188	.	.	ENSG00000144395	ENST00000409270	.	.	.	5.07	-0.803	0.10886	.	.	.	.	.	T	0.15478	0.0373	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37934	-0.9684	5	0.02654	T	1	.	0.0027	0.00000	0.3028:0.2005:0.1996:0.2971	.	.	.	.	D	89	.	ENSP00000387257:E89D	E	+	3	2	CCDC150	197286592	0.990000	0.36364	0.991000	0.47740	0.997000	0.91878	-0.089000	0.11180	-0.267000	0.09325	0.655000	0.94253	GAG	CCDC150	-	NULL		0.348	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	G	NM_001080539		197578347	+1	no_errors	ENST00000409270	ensembl	human	known	70_37	missense	SNP	0.993	C
CCDC160	347475	genome.wustl.edu	37	X	133378999	133378999	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:133378999G>A	ENST00000517294.1	+	3	552	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CCDC160_ENST00000370809.4_Missense_Mutation_p.E57K			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	57										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAAGTTTCAGGAAGAAAGTAA	0.313																																																	0													21.0	19.0	20.0					X																	133378999		1792	4050	5842	SO:0001583	missense	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.169G>A	X.37:g.133378999G>A	ENSP00000427951:p.Glu57Lys			Missense_Mutation	SNP	NULL	p.E57K	ENST00000517294.1	37	c.169	CCDS48171.1	X	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101002	0.37048	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.16	4.29	0.51040	.	0.000000	0.53938	D	0.000054	T	0.41119	0.1145	L	0.32530	0.975	0.36241	D	0.853254	B	0.31413	0.322	B	0.31812	0.136	T	0.51865	-0.8651	9	0.87932	D	0	2.1892	9.2874	0.37766	0.1825:0.0:0.8175:0.0	.	57	A6NGH7	CC160_HUMAN	K	57	.	ENSP00000359845:E57K	E	+	1	0	CCDC160	133206665	1.000000	0.71417	0.307000	0.25127	0.023000	0.10783	2.080000	0.41586	1.065000	0.40693	0.594000	0.82650	GAA	CCDC160	-	NULL		0.313	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	G	NM_001101357		133378999	+1	no_errors	ENST00000370809	ensembl	human	known	70_37	missense	SNP	0.955	A
CDH23	64072	genome.wustl.edu	37	10	73556744	73556744	+	3'UTR	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:73556744C>G	ENST00000475158.1	+	0	132				CDH23_ENST00000398788.3_Intron|CDH23_ENST00000224721.6_Intron			Q9H251	CAD23_HUMAN	cadherin-related 23						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						GTCCCAGATTCTACTGGGGAC	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	64072			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	ENST00000475158.1:c.*129C>G	10.37:g.73556744C>G			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	RNA	SNP	-	NULL	ENST00000475158.1	37	NULL		10																																																																																			CDH23	-	-		0.587	CDH23-008	KNOWN	basic	processed_transcript	CDH23	HGNC	protein_coding	OTTHUMT00000051234.1	C	NM_052836		73556744	+1	no_errors	ENST00000475158	ensembl	human	known	70_37	rna	SNP	0.004	G
CDH23	64072	genome.wustl.edu	37	10	73558160	73558160	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:73558160C>G	ENST00000224721.6	+	49	6899	c.6894C>G	c.(6892-6894)ttC>ttG	p.F2298L	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.F53L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2293	Cadherin 22. {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						CGCCCCAGTTCAAGCCCTTTG	0.607																																																	0													80.0	83.0	82.0					10																	73558160		2114	4241	6355	SO:0001583	missense	64072			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.6894C>G	10.37:g.73558160C>G	ENSP00000224721:p.Phe2298Leu		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F2296L	ENST00000224721.6	37	c.6888		10	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825038	0.90955	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.65732	-0.17	5.53	4.62	0.57501	Cadherin (2);Cadherin-like (1);	0.056631	0.64402	N	0.000001	T	0.79919	0.4529	M	0.83603	2.65	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.81914	0.995;0.938	T	0.83129	-0.0114	10	0.72032	D	0.01	.	14.2188	0.65812	0.0:0.9278:0.0:0.0722	.	2293;2293	E9PEX1;Q9H251	.;CAD23_HUMAN	L	2298;2293;2296;53	ENSP00000381768:F53L	ENSP00000224721:F2298L	F	+	3	2	CDH23	73228166	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.175000	0.42491	1.332000	0.45431	0.655000	0.94253	TTC	CDH23	-	superfamily_Cadherin-like,pfscan_Cadherin		0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	C	NM_052836		73558160	+1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	1.000	G
CEP72	55722	genome.wustl.edu	37	5	635548	635548	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:635548G>A	ENST00000264935.5	+	6	843	c.753G>A	c.(751-753)caG>caA	p.Q251Q	CEP72_ENST00000444221.1_Missense_Mutation_p.G192R	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	251					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CTGGGAAGCAGGGCCGTGAGA	0.507																																																	0													49.0	46.0	47.0					5																	635548		2203	4300	6503	SO:0001819	synonymous_variant	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.753G>A	5.37:g.635548G>A			B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.G192R	ENST00000264935.5	37	c.574	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874718	0.51695	.	.	ENSG00000112877	ENST00000444221	T	0.23754	1.89	4.5	-0.584	0.11702	.	.	.	.	.	T	0.27098	0.0664	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32107	-0.9919	6	0.87932	D	0	-16.9497	7.891	0.29677	0.6187:0.0:0.3813:0.0	.	.	.	.	R	192	ENSP00000392052:G192R	ENSP00000392052:G192R	G	+	1	0	CEP72	688548	0.225000	0.23685	0.007000	0.13788	0.034000	0.12701	0.241000	0.18065	-0.040000	0.13580	0.563000	0.77884	GGG	CEP72	-	NULL		0.507	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	G	NM_018140		635548	+1	no_errors	ENST00000444221	ensembl	human	known	70_37	missense	SNP	0.057	A
CFH	3075	genome.wustl.edu	37	1	196694299	196694299	+	Missense_Mutation	SNP	G	G	A	rs138890387		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:196694299G>A	ENST00000367429.4	+	12	1985	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	582	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTTCCTGATCGCAAGAAAGAC	0.348																																																	0								G	HIS/ARG	0,4406		0,0,2203	74.0	65.0	68.0		1745	2.7	0.1	1	dbSNP_134	68	1,8599		0,1,4299	no	missense	CFH	NM_000186.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	582/1232	196694299	1,13005	2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1745G>A	1.37:g.196694299G>A	ENSP00000356399:p.Arg582His		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R582H	ENST00000367429.4	37	c.1745	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624759	0.28889	0.0	1.16E-4	ENSG00000000971	ENST00000367429	T	0.73681	-0.77	5.74	2.72	0.32119	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.51601	0.1684	N	0.19112	0.55	0.09310	N	0.999991	B	0.22909	0.077	B	0.09377	0.004	T	0.29640	-1.0005	9	0.15066	T	0.55	.	3.8213	0.08836	0.1718:0.5754:0.166:0.0867	.	582	P08603	CFAH_HUMAN	H	582	ENSP00000356399:R582H	ENSP00000356399:R582H	R	+	2	0	CFH	194960922	0.002000	0.14202	0.077000	0.20336	0.003000	0.03518	0.287000	0.18920	1.581000	0.49865	-0.134000	0.14843	CGC	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.348	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	G	NM_000186		196694299	+1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.005	A
CHD6	84181	genome.wustl.edu	37	20	40045902	40045902	+	Missense_Mutation	SNP	C	C	T	rs181643165		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:40045902C>T	ENST00000373233.3	-	32	6392	c.6215G>A	c.(6214-6216)cGa>cAa	p.R2072Q	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2072					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGTGGGAGCTCGAGCCTCCTG	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15610	0.0		0.0	False		,,,				2504	0.0																0								C	GLN/ARG	0,4406		0,0,2203	115.0	117.0	116.0		6215	5.4	0.6	20		116	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHD6	NM_032221.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	2072/2716	40045902	2,13004	2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6215G>A	20.37:g.40045902C>T	ENSP00000362330:p.Arg2072Gln		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R2072Q	ENST00000373233.3	37	c.6215	CCDS13317.1	20	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.66	3.185763	0.57909	0.0	2.33E-4	ENSG00000124177	ENST00000373233	D	0.86030	-2.06	5.44	5.44	0.79542	.	0.000000	0.52532	D	0.000064	D	0.91264	0.7246	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.88425	0.3031	10	0.25751	T	0.34	-17.3894	19.623	0.95667	0.0:1.0:0.0:0.0	.	2072	Q8TD26	CHD6_HUMAN	Q	2072	ENSP00000362330:R2072Q	ENSP00000362330:R2072Q	R	-	2	0	CHD6	39479316	0.993000	0.37304	0.619000	0.29118	0.132000	0.20833	5.431000	0.66507	2.702000	0.92279	0.655000	0.94253	CGA	CHD6	-	NULL		0.527	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40045902	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	0.889	T
COL21A1	81578	genome.wustl.edu	37	6	56035614	56035614	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:56035614G>C	ENST00000244728.5	-	5	1256	c.859C>G	c.(859-861)Caa>Gaa	p.Q287E	COL21A1_ENST00000370819.1_Missense_Mutation_p.Q287E|COL21A1_ENST00000535941.1_Missense_Mutation_p.Q287E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	287	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTAAATCTTTGAGTAGACACA	0.343																																																	0													66.0	57.0	60.0					6																	56035614		1815	4076	5891	SO:0001583	missense	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.859C>G	6.37:g.56035614G>C	ENSP00000244728:p.Gln287Glu		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.Q287E	ENST00000244728.5	37	c.859	CCDS55025.1	6	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177601	0.38413	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.13538	2.58;2.58;2.58	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.133858	0.33477	N	0.004872	T	0.18551	0.0445	L	0.57536	1.79	0.80722	D	1	D;P	0.57257	0.979;0.931	P;B	0.53593	0.73;0.388	T	0.01444	-1.1353	10	0.66056	D	0.02	.	17.5385	0.87840	0.0:0.0:1.0:0.0	.	287;287	Q96P44-3;Q96P44	.;COLA1_HUMAN	E	287	ENSP00000244728:Q287E;ENSP00000359855:Q287E;ENSP00000444384:Q287E	ENSP00000244728:Q287E	Q	-	1	0	COL21A1	56143573	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.064000	0.64338	2.126000	0.65437	0.591000	0.81541	CAA	COL21A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.343	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	G			56035614	-1	no_errors	ENST00000244728	ensembl	human	known	70_37	missense	SNP	1.000	C
CSTF2T	23283	genome.wustl.edu	37	10	53458331	53458331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:53458331G>A	ENST00000331173.4	-	1	1024	c.979C>T	c.(979-981)Cga>Tga	p.R327*	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	327	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R327*(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		AACAGTCCTCGAGGAGGCAGA	0.572																																																	1	Substitution - Nonsense(1)	large_intestine(1)											66.0	63.0	64.0					10																	53458331		2203	4300	6503	SO:0001587	stop_gained	23283			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.979C>T	10.37:g.53458331G>A	ENSP00000332444:p.Arg327*		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R327*	ENST00000331173.4	37	c.979	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.851947	0.97023	.	.	ENSG00000177613	ENST00000331173	.	.	.	4.9	2.95	0.34219	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2672	11.6651	0.51368	0.0:0.0:0.6779:0.3221	.	.	.	.	X	327	.	ENSP00000332444:R327X	R	-	1	2	CSTF2T	53128337	0.917000	0.31117	1.000000	0.80357	0.997000	0.91878	0.911000	0.28584	0.714000	0.32081	0.655000	0.94253	CGA	CSTF2T	-	NULL		0.572	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	G	NM_015235		53458331	-1	no_errors	ENST00000331173	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CTNNA3	29119	genome.wustl.edu	37	10	68979606	68979606	+	Missense_Mutation	SNP	C	C	T	rs372957321		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:68979606C>T	ENST00000433211.2	-	6	776	c.602G>A	c.(601-603)aGa>aAa	p.R201K	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R201K|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R201K	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AATTTCATCTCTCTGATTTGG	0.388																																																	0								C	LYS/ARG,LYS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	68.0	66.0		602,602	5.6	1.0	10		66	0,8600		0,0,4300	no	missense,missense	CTNNA3	NM_001127384.1,NM_013266.2	26,26	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	201/896,201/896	68979606	1,13005	2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.602G>A	10.37:g.68979606C>T	ENSP00000389714:p.Arg201Lys			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R201K	ENST00000433211.2	37	c.602	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829485	0.90955	2.27E-4	0.0	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.49432	0.78;0.78;0.78	5.57	5.57	0.84162	.	0.000000	0.56097	D	0.000033	T	0.63331	0.2502	L	0.45352	1.415	0.41448	D	0.98796	D;D;P;D	0.63046	0.992;0.992;0.485;0.979	D;D;B;D	0.77004	0.989;0.989;0.261;0.973	T	0.64622	-0.6364	10	0.66056	D	0.02	-12.0805	18.3151	0.90218	0.0:1.0:0.0:0.0	.	201;201;201;201	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	K	201	ENSP00000389714:R201K;ENSP00000362849:R201K;ENSP00000441444:R201K	ENSP00000362849:R201K	R	-	2	0	CTNNA3	68649612	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.987000	0.70571	2.617000	0.88574	0.591000	0.81541	AGA	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.388	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	C	NM_013266		68979606	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	missense	SNP	1.000	T
ACKR3	57007	genome.wustl.edu	37	2	237489318	237489318	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:237489318C>T	ENST00000272928.3	+	2	520	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	70					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										GGGTGAATATCCAGGCCAAGA	0.532																																																	0													180.0	135.0	150.0					2																	237489318		2203	4300	6503	SO:0001819	synonymous_variant	57007			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.210C>T	2.37:g.237489318C>T			A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt	p.I70	ENST00000272928.3	37	c.210	CCDS2516.1	2																																																																																			CXCR7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn		0.532	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR7	HGNC	protein_coding	OTTHUMT00000257079.2	C	NM_020311		237489318	+1	no_errors	ENST00000272928	ensembl	human	known	70_37	silent	SNP	0.998	T
CYP3A43	64816	genome.wustl.edu	37	7	99453276	99453276	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:99453276G>C	ENST00000354829.2	+	8	836	c.733G>C	c.(733-735)Gtt>Ctt	p.V245L	CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_Missense_Mutation_p.V135L|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.V245L|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.V245L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	245			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TCCAAAAGATGTTACCCATTT	0.318																																																	0													59.0	56.0	57.0					7																	99453276		2201	4300	6501	SO:0001583	missense	64816			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.733G>C	7.37:g.99453276G>C	ENSP00000346887:p.Val245Leu		Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.V245L	ENST00000354829.2	37	c.733	CCDS5676.1	7	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417505	0.25552	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000312017;ENST00000222382	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	2.69	-1.17	0.09648	.	0.582845	0.17346	N	0.177564	T	0.50956	0.1646	M	0.66297	2.02	0.09310	N	1	B;B;B;B	0.12013	0.004;0.005;0.003;0.003	B;B;B;B	0.13407	0.005;0.009;0.009;0.009	T	0.41645	-0.9497	10	0.39692	T	0.17	.	3.9051	0.09178	0.1432:0.0:0.3021:0.5547	.	135;245;245;245	Q495Y1;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;CP343_HUMAN	L	245;135;245;245	ENSP00000346887:V245L;ENSP00000416581:V135L;ENSP00000312110:V245L;ENSP00000222382:V245L	ENSP00000222382:V245L	V	+	1	0	CYP3A43	99291212	0.000000	0.05858	0.003000	0.11579	0.732000	0.41865	-0.117000	0.10708	-0.031000	0.13781	0.195000	0.17529	GTT	CYP3A43	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.318	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	HGNC	protein_coding	OTTHUMT00000344379.1	G			99453276	+1	no_errors	ENST00000222382	ensembl	human	known	70_37	missense	SNP	0.000	C
DENND5B	160518	genome.wustl.edu	37	12	31579359	31579359	+	Splice_Site	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:31579359C>T	ENST00000389082.5	-	9	2371		c.e9-1		DENND5B_ENST00000536562.1_Splice_Site|DENND5B_ENST00000306833.6_Splice_Site	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B						positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCATATATTTCTAAAAAATCA	0.353																																																	0													50.0	47.0	48.0					12																	31579359		1813	4080	5893	SO:0001630	splice_region_variant	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2107-1G>A	12.37:g.31579359C>T			B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Splice_Site	SNP	-	e10-1	ENST00000389082.5	37	c.2212-1	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786349	0.70337	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8776	0.86056	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND5B	31470626	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.093000	0.76937	2.181000	0.69327	0.655000	0.94253	.	DENND5B	-	-		0.353	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	C	NM_144973	Intron	31579359	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	splice_site	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	31462737	31462737	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:31462737C>T	ENST00000357033.4	-	60	9151	c.8945G>A	c.(8944-8946)cGa>cAa	p.R2982Q	DMD_ENST00000378707.3_Missense_Mutation_p.R522Q|DMD_ENST00000541735.1_Missense_Mutation_p.R522Q|DMD_ENST00000359836.1_Missense_Mutation_p.R522Q|DMD_ENST00000343523.2_Missense_Mutation_p.R522Q|DMD_ENST00000474231.1_Missense_Mutation_p.R522Q|DMD_ENST00000378677.2_Missense_Mutation_p.R2978Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2982					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATTTCTCCTCGAAGTGCCTG	0.463																																																	0													128.0	97.0	107.0					X																	31462737		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8945G>A	X.37:g.31462737C>T	ENSP00000354923:p.Arg2982Gln		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.R2982Q	ENST00000357033.4	37	c.8945	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355824	0.41700	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.64	5.64	0.86602	.	0.000000	0.29021	U	0.013384	T	0.26521	0.0648	N	0.24115	0.695	0.37590	D	0.920168	P;B;B;B;B;B;B;B;B;B;B	0.37122	0.583;0.142;0.256;0.142;0.142;0.076;0.17;0.17;0.321;0.274;0.334	B;B;B;B;B;B;B;B;B;B;B	0.25987	0.064;0.011;0.04;0.016;0.016;0.021;0.053;0.065;0.018;0.011;0.056	T	0.23084	-1.0198	10	0.11794	T	0.64	.	10.9407	0.47273	0.0:0.9112:0.0:0.0888	.	2974;2982;2978;1641;1638;522;522;522;522;522;2859	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	Q	2974;1641;1638;678;2978;2982;522;522;2982;2859;522;522;522	ENSP00000350765:R678Q;ENSP00000367948:R2978Q;ENSP00000354923:R2982Q;ENSP00000352894:R522Q;ENSP00000340057:R522Q;ENSP00000367979:R522Q;ENSP00000444119:R522Q;ENSP00000417123:R522Q	ENSP00000340057:R522Q	R	-	2	0	DMD	31372658	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.930000	0.40124	2.360000	0.80028	0.594000	0.82650	CGA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.463	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		31462737	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH1	25981	genome.wustl.edu	37	3	52423564	52423564	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:52423564G>A	ENST00000420323.2	+	60	9844	c.9583G>A	c.(9583-9585)Ggg>Agg	p.G3195R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3260					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACGCTAATCGGGACGCTGGG	0.667																																																	0													36.0	41.0	39.0					3																	52423564		2097	4216	6313	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9583G>A	3.37:g.52423564G>A	ENSP00000401514:p.Gly3195Arg		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.G3195R	ENST00000420323.2	37	c.9583	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	8.058	0.767583	0.15983	.	.	ENSG00000114841	ENST00000420323	T	0.56611	0.45	5.06	2.26	0.28386	.	0.762631	0.11559	N	0.551874	T	0.32436	0.0829	N	0.26092	0.79	0.22521	N	0.999023	B;D	0.55605	0.003;0.972	B;B	0.40477	0.004;0.33	T	0.09122	-1.0689	10	0.18276	T	0.48	.	4.9604	0.14063	0.2853:0.0:0.569:0.1457	.	3195;3260	C9JXH6;Q9P2D7-2	.;.	R	3195	ENSP00000401514:G3195R	ENSP00000401514:G3195R	G	+	1	0	DNAH1	52398604	0.991000	0.36638	0.775000	0.31657	0.150000	0.21749	2.475000	0.45162	0.254000	0.21573	-0.291000	0.09656	GGG	DNAH1	-	NULL		0.667	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52423564	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	0.691	A
DNAJA3	9093	genome.wustl.edu	37	16	4506663	4506663	+	3'UTR	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr16:4506663C>T	ENST00000262375.6	+	0	2650				DNAJA3_ENST00000355296.4_3'UTR	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTTTTGTTTTCCTTTATAATT	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	9093			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.*1130C>T	16.37:g.4506663C>T			B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	RNA	SNP	-	NULL	ENST00000262375.6	37	NULL	CCDS10515.1	16																																																																																			DNAJA3	-	-		0.328	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAJA3	HGNC	protein_coding	OTTHUMT00000251633.1	C			4506663	+1	no_errors	ENST00000574393	ensembl	human	putative	70_37	rna	SNP	0.005	T
DOPEY2	9980	genome.wustl.edu	37	21	37617534	37617534	+	Missense_Mutation	SNP	G	G	A	rs146155717		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr21:37617534G>A	ENST00000399151.3	+	19	3341	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1086					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGAGCTGAGCGAGGAAGAGCT	0.637																																																	0								G	LYS/GLU	5,4401	9.9+/-24.2	0,5,2198	85.0	70.0	75.0		3256	5.4	0.8	21	dbSNP_134	75	0,8600		0,0,4300	yes	missense	DOPEY2	NM_005128.2	56	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	1086/2299	37617534	5,13001	2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3256G>A	21.37:g.37617534G>A	ENSP00000382104:p.Glu1086Lys		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.E1086K	ENST00000399151.3	37	c.3256	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451447	0.43531	0.001135	0.0	ENSG00000142197	ENST00000399151	T	0.26518	1.73	5.36	5.36	0.76844	.	0.495491	0.20754	N	0.086284	T	0.31358	0.0794	L	0.56769	1.78	0.50813	D	0.999894	D;D	0.57899	0.981;0.967	B;B	0.43018	0.405;0.229	T	0.06250	-1.0837	10	0.38643	T	0.18	.	18.447	0.90688	0.0:0.0:1.0:0.0	.	1086;1086	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	1086	ENSP00000382104:E1086K	ENSP00000382104:E1086K	E	+	1	0	DOPEY2	36539404	1.000000	0.71417	0.781000	0.31783	0.023000	0.10783	7.647000	0.83462	2.671000	0.90904	0.650000	0.86243	GAG	DOPEY2	-	NULL		0.637	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37617534	+1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.998	A
DSP	1832	genome.wustl.edu	37	6	7555992	7555996	+	Frame_Shift_Del	DEL	TCCAG	TCCAG	-	rs397516923		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	TCCAG	TCCAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:7555992_7555996delTCCAG	ENST00000379802.3	+	2	553_557	c.212_216delTCCAG	c.(211-216)atccagfs	p.IQ71fs	DSP_ENST00000418664.2_Frame_Shift_Del_p.IQ71fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	71	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGAACACCATCCAGGAGCTGCTGC	0.507																																																	0																																										SO:0001589	frameshift_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.212_216delTCCAG	6.37:g.7555992_7555996delTCCAG	ENSP00000369129:p.Ile71fs		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I71fs	ENST00000379802.3	37	c.212_216	CCDS4501.1	6																																																																																			DSP	-	NULL		0.507	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	TCCAG	NM_004415		7555996	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000	-
DSP	1832	genome.wustl.edu	37	6	7583547	7583547	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:7583547A>G	ENST00000379802.3	+	24	6393	c.6052A>G	c.(6052-6054)Atc>Gtc	p.I2018V	DSP_ENST00000418664.2_Missense_Mutation_p.I1419V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2018	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCAGGATCTATCGCTGGAGC	0.463																																																	0													61.0	67.0	65.0					6																	7583547		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6052A>G	6.37:g.7583547A>G	ENSP00000369129:p.Ile2018Val		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I2018V	ENST00000379802.3	37	c.6052	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516525	0.27123	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.69926	-0.44;-0.44	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000015	T	0.70254	0.3203	M	0.73430	2.235	0.24318	N	0.995057	D;D	0.60575	0.988;0.958	D;P	0.69654	0.965;0.558	T	0.64537	-0.6384	10	0.18710	T	0.47	.	14.9582	0.71135	1.0:0.0:0.0:0.0	.	1466;2018	Q4LE79;P15924	.;DESP_HUMAN	V	2018;1419	ENSP00000369129:I2018V;ENSP00000396591:I1419V	ENSP00000369129:I2018V	I	+	1	0	DSP	7528546	1.000000	0.71417	0.093000	0.20910	0.975000	0.68041	9.213000	0.95133	1.990000	0.58119	0.533000	0.62120	ATC	DSP	-	smart_Plectin_repeat		0.463	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	A	NM_004415		7583547	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	0.997	G
DYNC1H1	1778	genome.wustl.edu	37	14	102493819	102493819	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr14:102493819G>A	ENST00000360184.4	+	46	9150	c.8986G>A	c.(8986-8988)Gaa>Aaa	p.E2996K		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2996	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TATAATGGATGAATCTAATGT	0.423																																																	0													114.0	111.0	112.0					14																	102493819		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8986G>A	14.37:g.102493819G>A	ENSP00000348965:p.Glu2996Lys		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.E2996K	ENST00000360184.4	37	c.8986	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.617445	0.96649	.	.	ENSG00000197102	ENST00000360184	T	0.72942	-0.7	5.7	5.7	0.88788	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.055265	0.64402	D	0.000001	D	0.89420	0.6710	H	0.96398	3.815	0.80722	D	1	D	0.63046	0.992	D	0.65773	0.938	D	0.92205	0.5771	10	0.87932	D	0	.	19.8311	0.96636	0.0:0.0:1.0:0.0	.	2996	Q14204	DYHC1_HUMAN	K	2996	ENSP00000348965:E2996K	ENSP00000348965:E2996K	E	+	1	0	DYNC1H1	101563572	1.000000	0.71417	0.960000	0.40013	0.975000	0.68041	9.514000	0.98013	2.685000	0.91497	0.603000	0.83216	GAA	DYNC1H1	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.423	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102493819	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	A
AGO2	27161	genome.wustl.edu	37	8	141542680	141542680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr8:141542680C>T	ENST00000220592.5	-	18	2418	c.2306G>A	c.(2305-2307)tGg>tAg	p.W769*	AGO2_ENST00000519980.1_Nonsense_Mutation_p.W735*	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	769	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										ATTGTCGTCCCAGAGGACGTG	0.512																																																	0													106.0	78.0	88.0					8																	141542680		2203	4300	6503	SO:0001587	stop_gained	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2306G>A	8.37:g.141542680C>T	ENSP00000220592:p.Trp769*		Q8TCZ5|Q8WV58|Q96ID1	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.W769*	ENST00000220592.5	37	c.2306	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	C	39	7.689060	0.98434	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.011	20.1865	0.98220	0.0:1.0:0.0:0.0	.	.	.	.	X	769;735	.	ENSP00000220592:W769X	W	-	2	0	EIF2C2	141611862	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.708000	0.84633	2.775000	0.95449	0.655000	0.94253	TGG	EIF2C2	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.512	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	C			141542680	-1	no_errors	ENST00000220592	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ELF5	2001	genome.wustl.edu	37	11	34533107	34533107	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:34533107G>A	ENST00000312319.2	-	1	239	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	ELF5_ENST00000429939.2_Intron|ELF5_ENST00000532417.1_Intron|ELF5_ENST00000257832.2_Intron|ELF5_ENST00000528709.1_5'UTR	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	4					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GAGTGAGGCAGAGATGGCATG	0.532																																					Melanoma(61;202 1660 4348 21594)												0													161.0	130.0	141.0					11																	34533107		2202	4298	6500	SO:0001819	synonymous_variant	2001			AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.10C>T	11.37:g.34533107G>A			A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.L4	ENST00000312319.2	37	c.10	CCDS7892.1	11																																																																																			ELF5	-	NULL		0.532	ELF5-002	KNOWN	basic|CCDS	protein_coding	ELF5	HGNC	protein_coding	OTTHUMT00000389845.1	G	NM_198381		34533107	-1	no_errors	ENST00000312319	ensembl	human	known	70_37	silent	SNP	0.003	A
AC012501.2	0	genome.wustl.edu	37	2	154278136	154278136	+	RNA	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:154278136G>A	ENST00000424322.1	-	0	1172																											TTGGTCCAAAGGCCAATGATC	0.527																																																	0																																												0																															2.37:g.154278136G>A				RNA	SNP	-	NULL	ENST00000424322.1	37	NULL		2																																																																																			AC012501.2	-	-		0.527	AC012501.2-003	KNOWN	basic	sense_overlapping	ENSG00000227400	Clone_based_vega_gene	sense_overlapping	OTTHUMT00000332581.1	G			154278136	-1	no_errors	ENST00000454312	ensembl	human	known	70_37	rna	SNP	0.997	A
LOC284379	284379	genome.wustl.edu	37	19	54104546	54104546	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:54104546C>T	ENST00000600193.1	-	3	393	c.286G>A	c.(286-288)Gcc>Acc	p.A96T																								CCACATTGGGCCCAGGTCTCA	0.532																																																	0																																										SO:0001583	missense	0																														ENST00000600193.1:c.286G>A	19.37:g.54104546C>T	ENSP00000469517:p.Ala96Thr			Missense_Mutation	SNP	NULL	p.A96T	ENST00000600193.1	37	c.286		19																																																																																			CTB-167G5.5	-	NULL		0.532	CTB-167G5.5-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000268864	Clone_based_vega_gene	protein_coding	OTTHUMT00000464983.1	C			54104546	-1	no_errors	ENST00000600193	ensembl	human	putative	70_37	missense	SNP	0.118	T
EPB41L4A	64097	genome.wustl.edu	37	5	111576451	111576451	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:111576451G>A	ENST00000261486.5	-	10	1128	c.852C>T	c.(850-852)ctC>ctT	p.L284L	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	284	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGCACTTCCAGAGGTGCTTGC	0.323																																																	0													72.0	68.0	69.0					5																	111576451		1813	4086	5899	SO:0001819	synonymous_variant	64097			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.852C>T	5.37:g.111576451G>A			A4FUI6	Silent	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.L284	ENST00000261486.5	37	c.852	CCDS43350.1	5																																																																																			EPB41L4A	-	pfam_FERM_PH-like_C,pfscan_FERM_domain		0.323	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	HGNC	protein_coding	OTTHUMT00000370969.1	G			111576451	-1	no_errors	ENST00000261486	ensembl	human	known	70_37	silent	SNP	1.000	A
EPHA3	2042	genome.wustl.edu	37	3	89259301	89259301	+	Missense_Mutation	SNP	G	G	A	rs34813653		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:89259301G>A	ENST00000336596.2	+	3	670	c.445G>A	c.(445-447)Gat>Aat	p.D149N	EPHA3_ENST00000494014.1_Missense_Mutation_p.D149N|EPHA3_ENST00000452448.2_Missense_Mutation_p.D149N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	149	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CATTGCAGCTGATGAAAGTTT	0.418										TSP Lung(6;0.00050)																																							0													150.0	139.0	143.0					3																	89259301		2203	4300	6503	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.445G>A	3.37:g.89259301G>A	ENSP00000337451:p.Asp149Asn		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D149N	ENST00000336596.2	37	c.445	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027095	0.93518	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.11712	2.75;2.75;2.75	5.57	5.57	0.84162	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.111999	0.64402	D	0.000015	T	0.40546	0.1121	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	T	0.28902	-1.0029	9	.	.	.	.	19.5561	0.95349	0.0:0.0:1.0:0.0	.	149;149	P29320;P29320-2	EPHA3_HUMAN;.	N	149	ENSP00000337451:D149N;ENSP00000399926:D149N;ENSP00000419190:D149N	.	D	+	1	0	EPHA3	89341991	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.608000	0.88229	0.557000	0.71058	GAT	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom		0.418	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	G	NM_005233		89259301	+1	no_errors	ENST00000336596	ensembl	human	known	70_37	missense	SNP	1.000	A
ERBB2	2064	genome.wustl.edu	37	17	37866671	37866671	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:37866671G>C	ENST00000269571.5	+	7	997	c.838G>C	c.(838-840)Gag>Cag	p.E280Q	ERBB2_ENST00000584450.1_Missense_Mutation_p.E280Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.E265Q|ERBB2_ENST00000540042.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000578199.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.E250Q|ERBB2_ENST00000445658.2_Intron			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	280					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)			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)	AGACACGTTTGAGTCCATGCC	0.587		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													105.0	87.0	93.0					17																	37866671		2203	4300	6503	SO:0001583	missense	2064			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.838G>C	17.37:g.37866671G>C	ENSP00000269571:p.Glu280Gln		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	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,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E280Q	ENST00000269571.5	37	c.838	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871565	0.51695	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.82	5.82	0.92795	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.35537	0.0935	N	0.04355	-0.22	0.45822	D	0.998698	B;B;B;B	0.33512	0.415;0.26;0.039;0.028	B;B;B;B	0.24394	0.053;0.029;0.03;0.011	T	0.47032	-0.9148	9	0.02654	T	1	.	18.8605	0.92270	0.0:0.0:1.0:0.0	.	250;265;280;280	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	Q	250;265;280;250;250	ENSP00000385185:E250Q;ENSP00000446466:E265Q;ENSP00000269571:E280Q;ENSP00000443562:E250Q;ENSP00000446382:E250Q	ENSP00000269571:E280Q	E	+	1	0	ERBB2	35120197	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.194000	0.58393	2.765000	0.95021	0.591000	0.81541	GAG	ERBB2	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.587	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37866671	+1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	0.999	C
ERBB3	2065	genome.wustl.edu	37	12	56481622	56481622	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:56481622T>A	ENST00000267101.3	+	6	1097	c.657T>A	c.(655-657)ttT>ttA	p.F219L	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.F160L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	219					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|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)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GTCACTGCTTTGGGCCCAACC	0.552																																																	0													129.0	116.0	120.0					12																	56481622		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.657T>A	12.37:g.56481622T>A	ENSP00000267101:p.Phe219Leu		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F219L	ENST00000267101.3	37	c.657	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258192	0.80246	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.64438	-0.1;-0.1	5.69	1.51	0.23008	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000002	T	0.67088	0.2856	M	0.74467	2.265	0.80722	D	1	P	0.47910	0.902	P	0.52424	0.698	T	0.62282	-0.6887	10	0.36615	T	0.2	.	8.4596	0.32921	0.0:0.2799:0.0:0.7201	.	219	P21860	ERBB3_HUMAN	L	219;219;160	ENSP00000267101:F219L;ENSP00000408340:F160L	ENSP00000267101:F219L	F	+	3	2	ERBB3	54767889	0.914000	0.31030	0.999000	0.59377	0.998000	0.95712	-0.059000	0.11731	0.014000	0.14944	0.533000	0.62120	TTT	ERBB3	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.552	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	T			56481622	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.997	A
ERCC4	2072	genome.wustl.edu	37	16	14015888	14015888	+	Splice_Site	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr16:14015888G>A	ENST00000311895.7	+	2	217	c.208G>A	c.(208-210)Gag>Aag	p.E70K	ERCC4_ENST00000575156.1_Splice_Site_p.E70K	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	70	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTTGATTTAGGAGTATTTTAT	0.348			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													55.0	51.0	52.0					16																	14015888		2197	4300	6497	SO:0001630	splice_region_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.208-1G>A	16.37:g.14015888G>A			A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.E70K	ENST00000311895.7	37	c.208	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961085	0.74016	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.56941	0.43	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.71804	0.3383	M	0.72894	2.215	0.80722	D	1	D;B	0.76494	0.999;0.264	D;B	0.72982	0.979;0.341	T	0.72017	-0.4417	9	.	.	.	-29.641	18.0135	0.89231	0.0:0.0:1.0:0.0	.	70;70	A5PKV6;Q92889	.;XPF_HUMAN	K	70;59;59	ENSP00000310520:E70K	.	E	+	1	0	ERCC4	13923389	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.417000	0.97391	2.470000	0.83445	0.655000	0.94253	GAG	ERCC4	-	NULL		0.348	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	G	NM_005236	Missense_Mutation	14015888	+1	no_errors	ENST00000311895	ensembl	human	known	70_37	missense	SNP	1.000	A
ESPL1	9700	genome.wustl.edu	37	12	53670904	53670904	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:53670904C>G	ENST00000257934.4	+	9	2069	c.1978C>G	c.(1978-1980)Ctg>Gtg	p.L660V	ESPL1_ENST00000552462.1_Missense_Mutation_p.L660V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	660					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTGCAGCTTCTGGACTCTGT	0.547																																					Colon(53;1069 1201 2587 5382)												0													70.0	67.0	68.0					12																	53670904		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1978C>G	12.37:g.53670904C>G	ENSP00000257934:p.Leu660Val			Missense_Mutation	SNP	pfam_Peptidase_C50	p.L660V	ENST00000257934.4	37	c.1978	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	C	18.19	3.570091	0.65765	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.15603	2.41;2.41	5.19	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.36635	0.0974	M	0.76002	2.32	0.47862	D	0.999534	D	0.76494	0.999	D	0.80764	0.994	T	0.09530	-1.0670	10	0.87932	D	0	.	7.1632	0.25675	0.0:0.7624:0.0:0.2376	.	660	Q14674	ESPL1_HUMAN	V	660;335;660	ENSP00000257934:L660V;ENSP00000449831:L660V	ENSP00000257934:L660V	L	+	1	2	ESPL1	51957171	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	0.894000	0.28350	2.710000	0.92621	0.655000	0.94253	CTG	ESPL1	-	NULL		0.547	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	C	NM_012291		53670904	+1	no_errors	ENST00000257934	ensembl	human	known	70_37	missense	SNP	1.000	G
EXPH5	23086	genome.wustl.edu	37	11	108380989	108380989	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:108380989G>C	ENST00000265843.4	-	6	5355	c.5245C>G	c.(5245-5247)Cag>Gag	p.Q1749E	EXPH5_ENST00000443411.1_Missense_Mutation_p.Q1561E|EXPH5_ENST00000428840.1_Missense_Mutation_p.Q1673E|EXPH5_ENST00000525344.1_Missense_Mutation_p.Q1742E	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1749					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGCCTCCTCTGATTGTCAGAG	0.493																																																	0													75.0	81.0	79.0					11																	108380989		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5245C>G	11.37:g.108380989G>C	ENSP00000265843:p.Gln1749Glu		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.Q1749E	ENST00000265843.4	37	c.5245	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	G	9.313	1.056072	0.19907	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312	T;T;T;T;T	0.03386	4.18;4.1;3.95;4.18;4.0	5.91	4.98	0.66077	.	0.272689	0.26995	N	0.021452	T	0.06142	0.0159	L	0.59436	1.845	0.09310	N	1	B	0.23990	0.095	B	0.26202	0.067	T	0.22138	-1.0225	10	0.30078	T	0.28	0.1088	13.5618	0.61793	0.0:0.3195:0.6805:0.0	.	1749	Q8NEV8	EXPH5_HUMAN	E	1749;1673;1561;1742;579;1673	ENSP00000265843:Q1749E;ENSP00000391966:Q1673E;ENSP00000411390:Q1561E;ENSP00000432546:Q1742E;ENSP00000432683:Q1673E	ENSP00000265843:Q1749E	Q	-	1	0	EXPH5	107886199	0.001000	0.12720	0.007000	0.13788	0.189000	0.23516	0.970000	0.29383	1.459000	0.47892	0.655000	0.94253	CAG	EXPH5	-	NULL		0.493	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	G	NM_015065		108380989	-1	no_errors	ENST00000265843	ensembl	human	known	70_37	missense	SNP	0.003	C
EYS	346007	genome.wustl.edu	37	6	66200538	66200538	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:66200538T>C	ENST00000370621.3	-	5	1337	c.811A>G	c.(811-813)Agc>Ggc	p.S271G	EYS_ENST00000370618.3_Missense_Mutation_p.S271G|EYS_ENST00000342421.5_Missense_Mutation_p.S271G|EYS_ENST00000503581.1_Missense_Mutation_p.S271G|EYS_ENST00000393380.2_Missense_Mutation_p.S271G|EYS_ENST00000370616.2_Missense_Mutation_p.S271G			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	271	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTAATATTGCTGCAGTTTCCA	0.294																																																	0													70.0	67.0	68.0					6																	66200538		2203	4292	6495	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.811A>G	6.37:g.66200538T>C	ENSP00000359655:p.Ser271Gly		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S271G	ENST00000370621.3	37	c.811		6	.	.	.	.	.	.	.	.	.	.	T	4.325	0.059621	0.08339	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.53	2.03	0.26663	.	.	.	.	.	T	0.52885	0.1762	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.12156	0.003;0.007;0.003	T	0.49551	-0.8928	9	0.62326	D	0.03	.	5.3059	0.15803	0.0:0.0946:0.1784:0.7269	.	271;271;271	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	G	271	ENSP00000424243:S271G;ENSP00000359655:S271G;ENSP00000359650:S271G;ENSP00000377042:S271G;ENSP00000341818:S271G;ENSP00000359652:S271G	ENSP00000341818:S271G	S	-	1	0	EYS	66257259	0.627000	0.27129	0.000000	0.03702	0.058000	0.15608	0.483000	0.22292	0.204000	0.20548	0.528000	0.53228	AGC	EYS	-	smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom		0.294	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	T	XM_294050		66200538	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.012	C
FAM154B	283726	genome.wustl.edu	37	15	82575267	82575267	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:82575267C>T	ENST00000339465.5	+	3	1130	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.S339F	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	354										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						ACCATGTACTCTGTAGAGTAC	0.393																																																	0													63.0	64.0	63.0					15																	82575267		2203	4300	6503	SO:0001583	missense	283726			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.1061C>T	15.37:g.82575267C>T	ENSP00000340445:p.Ser354Phe		B4E2M2	Missense_Mutation	SNP	NULL	p.S354F	ENST00000339465.5	37	c.1061	CCDS32310.1	15	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405106	0.62288	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.17528	2.27;2.27	4.07	3.05	0.35203	.	0.180848	0.33327	N	0.005035	T	0.30103	0.0754	M	0.67953	2.075	0.30427	N	0.777575	P;P	0.52316	0.952;0.952	P;P	0.58577	0.841;0.76	T	0.09707	-1.0662	10	0.66056	D	0.02	-15.8981	7.4478	0.27221	0.144:0.504:0.352:0.0	.	339;354	B4E2M2;Q658L1	.;F154B_HUMAN	F	354;339	ENSP00000340445:S354F;ENSP00000403743:S339F	ENSP00000340445:S354F	S	+	2	0	FAM154B	80362322	0.982000	0.34865	0.448000	0.26945	0.011000	0.07611	2.062000	0.41413	1.988000	0.58038	0.404000	0.27445	TCT	FAM154B	-	NULL		0.393	FAM154B-001	KNOWN	basic|CCDS	protein_coding	FAM154B	HGNC	protein_coding	OTTHUMT00000419644.1	C	NM_001008226		82575267	+1	no_errors	ENST00000339465	ensembl	human	known	70_37	missense	SNP	0.900	T
FAM179A	165186	genome.wustl.edu	37	2	29234362	29234362	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:29234362C>G	ENST00000379558.4	+	7	1223	c.872C>G	c.(871-873)tCt>tGt	p.S291C	FAM179A_ENST00000403861.2_Missense_Mutation_p.S291C	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	291										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCCCTGCATCTCTGGGTACG	0.537																																																	0													108.0	112.0	111.0					2																	29234362		1917	4119	6036	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.872C>G	2.37:g.29234362C>G	ENSP00000368876:p.Ser291Cys		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.S291C	ENST00000379558.4	37	c.872	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172756	0.38413	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.12879	2.85;2.64	4.66	4.66	0.58398	.	.	.	.	.	T	0.26557	0.0649	L	0.32530	0.975	0.29841	N	0.829195	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.972	T	0.03249	-1.1056	9	0.87932	D	0	.	13.416	0.60968	0.0:1.0:0.0:0.0	.	291;291	F8W8E4;Q6ZUX3	.;F179A_HUMAN	C	291	ENSP00000368876:S291C;ENSP00000384699:S291C	ENSP00000368876:S291C	S	+	2	0	FAM179A	29087866	1.000000	0.71417	0.987000	0.45799	0.004000	0.04260	4.026000	0.57232	2.297000	0.77311	0.467000	0.42956	TCT	FAM179A	-	NULL		0.537	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	C	NM_199280		29234362	+1	no_errors	ENST00000379558	ensembl	human	known	70_37	missense	SNP	0.996	G
FAM180B	399888	genome.wustl.edu	37	11	47609937	47609937	+	Missense_Mutation	SNP	G	G	A	rs566568495	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:47609937G>A	ENST00000356737.2	+	3	626	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	FAM180B_ENST00000538490.1_Missense_Mutation_p.R186Q			Q6P0A1	F180B_HUMAN	family with sequence similarity 180, member B	209						integral component of membrane (GO:0016021)											CCCCAGGACCGGCCCCCTTCC	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15989	0.0		0.0	False		,,,				2504	0.0																0													14.0	16.0	16.0					11																	47609937		692	1591	2283	SO:0001583	missense	399888			BC065704		11p11.2	2008-07-21			ENSG00000196666	ENSG00000196666			34451	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC065704"""					12477932	Standard	NM_001164379		Approved	LOC399888	uc001ngb.2	Q6P0A1		ENST00000356737.2:c.626G>A	11.37:g.47609937G>A	ENSP00000349175:p.Arg209Gln			Missense_Mutation	SNP	NULL	p.R209Q	ENST00000356737.2	37	c.626		11	.	.	.	.	.	.	.	.	.	.	G	1.433	-0.569666	0.03910	.	.	ENSG00000196666	ENST00000356737;ENST00000538490	T;T	0.28454	1.61;1.62	5.28	4.15	0.48705	.	0.162686	0.29328	N	0.012464	T	0.10465	0.0256	N	0.01874	-0.695	0.22954	N	0.99851	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	10	0.09590	T	0.72	-1.3784	9.3093	0.37893	0.9178:0.0:0.0822:0.0	.	209	Q6P0A1	F180B_HUMAN	Q	209;186	ENSP00000349175:R209Q;ENSP00000443133:R186Q	ENSP00000349175:R209Q	R	+	2	0	FAM180B	47566513	0.840000	0.29493	0.998000	0.56505	0.402000	0.30811	1.752000	0.38349	0.843000	0.35070	-0.429000	0.05907	CGG	FAM180B	-	NULL		0.632	FAM180B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM180B	HGNC	protein_coding		G	XM_941808		47609937	+1	no_errors	ENST00000356737	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM208A	23272	genome.wustl.edu	37	3	56659024	56659024	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:56659024T>C	ENST00000493960.2	-	22	4160	c.4150A>G	c.(4150-4152)Aaa>Gaa	p.K1384E	FAM208A_ENST00000485156.1_Intron|FAM208A_ENST00000355628.5_Missense_Mutation_p.K1323E|FAM208A_ENST00000431842.2_Missense_Mutation_p.K947E	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1384							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CTTAGAGCTTTAGCATTCAAT	0.338																																																	0													67.0	68.0	68.0					3																	56659024		2203	4300	6503	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.4150A>G	3.37:g.56659024T>C	ENSP00000417509:p.Lys1384Glu		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.K1323E	ENST00000493960.2	37	c.3967	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361982	0.24684	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.48201	0.82;0.82;0.82	5.65	5.65	0.86999	.	0.160268	0.44097	D	0.000496	T	0.26521	0.0648	N	0.10874	0.06	0.37491	D	0.916374	B;B;B;P	0.42827	0.138;0.02;0.242;0.791	B;B;B;B	0.38378	0.049;0.037;0.049;0.272	T	0.25779	-1.0122	10	0.05959	T	0.93	-5.0832	15.8558	0.78977	0.0:0.0:0.0:1.0	.	1384;1323;947;1384	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	E	947;1384;1323	ENSP00000399410:K947E;ENSP00000417509:K1384E;ENSP00000347845:K1323E	ENSP00000347845:K1323E	K	-	1	0	C3orf63	56634064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.642000	0.61383	2.145000	0.66743	0.533000	0.62120	AAA	FAM208A	-	NULL		0.338	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	T	NM_015224		56659024	-1	no_errors	ENST00000355628	ensembl	human	known	70_37	missense	SNP	1.000	C
NUTM2F	54754	genome.wustl.edu	37	9	97081084	97081084	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr9:97081084G>A	ENST00000253262.4	-	7	1954	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	NUTM2F_ENST00000341207.4_Missense_Mutation_p.S630F|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	645																	CCTGTGGTGGGAACCCACGAC	0.622																																																	0													10.0	9.0	9.0					9																	97081084		1713	3778	5491	SO:0001583	missense	54754				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1934C>T	9.37:g.97081084G>A	ENSP00000253262:p.Ser645Phe		B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	NULL	p.S645F	ENST00000253262.4	37	c.1934	CCDS47994.1	9	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411746	0.25465	.	.	ENSG00000130950	ENST00000253262;ENST00000341207;ENST00000375347	T;T	0.18502	2.21;2.25	1.52	0.577	0.17385	Nuclear Testis protein, C-terminal (1);	0.601209	0.15197	N	0.275227	T	0.32436	0.0829	M	0.70595	2.14	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.08330	-1.0727	10	0.87932	D	0	.	3.9468	0.09352	0.2401:0.0:0.7599:0.0	.	645	A1L443	FA22F_HUMAN	F	645;630;479	ENSP00000253262:S645F;ENSP00000343865:S630F	ENSP00000253262:S645F	S	-	2	0	FAM22F	96120905	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.080000	0.11339	0.223000	0.20920	0.456000	0.33151	TCC	FAM22F	-	NULL		0.622	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22F	HGNC	protein_coding	OTTHUMT00000053173.2	G	NM_017561		97081084	-1	no_errors	ENST00000253262	ensembl	human	known	70_37	missense	SNP	0.001	A
BRINP3	339479	genome.wustl.edu	37	1	190423875	190423875	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:190423875G>A	ENST00000367462.3	-	2	377	c.146C>T	c.(145-147)tCt>tTt	p.S49F	BRINP3_ENST00000534846.1_Silent_p.L11L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	49					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TCCCTTATCAGAGAGGAGCCA	0.498																																																	0													79.0	78.0	78.0					1																	190423875		2203	4300	6503	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.146C>T	1.37:g.190423875G>A	ENSP00000356432:p.Ser49Phe		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S49F	ENST00000367462.3	37	c.146	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988036	0.74589	.	.	ENSG00000162670	ENST00000367462;ENST00000445957	T;T	0.55760	2.2;0.5	5.42	4.5	0.54988	.	0.063733	0.64402	D	0.000004	T	0.66723	0.2818	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.69624	-0.5095	10	0.87932	D	0	.	13.2729	0.60172	0.0:0.0:0.8402:0.1598	.	49	Q76B58	FAM5C_HUMAN	F	49	ENSP00000356432:S49F;ENSP00000393441:S49F	ENSP00000356432:S49F	S	-	2	0	FAM5C	188690498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.589000	0.82641	1.254000	0.44035	0.655000	0.94253	TCT	FAM5C	-	NULL		0.498	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	G	NM_199051		190423875	-1	no_errors	ENST00000367462	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM90A1	55138	genome.wustl.edu	37	12	8377332	8377332	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:8377332G>A	ENST00000538603.1	-	4	655	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P33S	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	33							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCGGGCGGGGGAGCCCTTGGC	0.647																																																	0													10.0	13.0	12.0					12																	8377332		2187	4262	6449	SO:0001583	missense	55138			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.97C>T	12.37:g.8377332G>A	ENSP00000445418:p.Pro33Ser		D3DUU9|Q9NVZ6	Missense_Mutation	SNP	NULL	p.P33S	ENST00000538603.1	37	c.97	CCDS31738.1	12	.	.	.	.	.	.	.	.	.	.	.	11.04	1.521967	0.27211	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.15952	2.38;2.38	0.706	0.706	0.18133	.	.	.	.	.	T	0.17195	0.0413	L	0.58810	1.83	0.09310	N	1	P	0.37731	0.607	B	0.39465	0.3	T	0.16217	-1.0410	8	0.30854	T	0.27	-42.1669	.	.	.	.	33	Q86YD7	F90A1_HUMAN	S	33	ENSP00000307798:P33S;ENSP00000445418:P33S	ENSP00000307798:P33S	P	-	1	0	FAM90A1	8268599	0.020000	0.18652	0.011000	0.14972	0.055000	0.15305	0.297000	0.19101	0.668000	0.31126	0.196000	0.17591	CCC	FAM90A1	-	NULL		0.647	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM90A1	HGNC	protein_coding	OTTHUMT00000400468.1	G	NM_018088		8377332	-1	no_errors	ENST00000307435	ensembl	human	known	70_37	missense	SNP	0.012	A
FBXO18	84893	genome.wustl.edu	37	10	5963484	5963484	+	Silent	SNP	C	C	T	rs141613808		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:5963484C>T	ENST00000362091.4	+	15	2389	c.2274C>T	c.(2272-2274)gcC>gcT	p.A758A	FBXO18_ENST00000397269.3_Silent_p.A245A|FBXO18_ENST00000379999.5_Silent_p.A809A	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	758					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.A809A(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TTGATGAGGCCGTACGGGTGA	0.498																																																	1	Substitution - coding silent(1)	large_intestine(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	114.0	93.0	100.0		2427,2274	-11.7	0.1	10	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FBXO18	NM_032807.3,NM_178150.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	809/1095,758/1044	5963484	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2274C>T	10.37:g.5963484C>T			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.A809	ENST00000362091.4	37	c.2427	CCDS7072.1	10																																																																																			FBXO18	-	NULL		0.498	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	C	NM_032807		5963484	+1	no_errors	ENST00000379999	ensembl	human	known	70_37	silent	SNP	0.011	T
FCRL1	115350	genome.wustl.edu	37	1	157776889	157776889	+	Intron	SNP	C	C	A	rs183077956	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:157776889C>A	ENST00000368176.3	-	2	120				FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Intron|FCRL1_ENST00000489998.1_5'Flank	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AAGTGCAACTCACCGGCAGGT	0.488																																					GBM(54;482 1003 11223 30131 35730)												0													75.0	71.0	72.0					1																	157776889		2203	4300	6503	SO:0001627	intron_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.52+2G>T	1.37:g.157776889C>A			B2RE05|Q8N759|Q8NDI0|Q96PJ6	RNA	SNP	-	NULL	ENST00000368176.3	37	NULL	CCDS1170.1	1																																																																																			FCRL1	-	-		0.488	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	C	NM_052938		157776889	-1	no_errors	ENST00000480310	ensembl	human	known	70_37	rna	SNP	1.000	A
FGFR2	2263	genome.wustl.edu	37	10	123238709	123238710	+	3'UTR	INS	-	-	A	rs533680275	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:123238709_123238710insA	ENST00000358487.5	-	0	3399_3400				FGFR2_ENST00000356226.4_3'UTR|FGFR2_ENST00000369061.4_3'UTR|FGFR2_ENST00000357555.5_3'UTR|FGFR2_ENST00000478859.1_3'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ACTTAAATTACAAAAAAAACTA	0.282		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0																																										SO:0001624	3_prime_UTR_variant	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.*662->T	10.37:g.123238717_123238717dupA			B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	RNA	INS	-	NULL	ENST00000358487.5	37	NULL	CCDS31298.1	10																																																																																			FGFR2	-	-		0.282	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	-	NM_022976, NM_000141		123238710	-1	no_errors	ENST00000478859	ensembl	human	known	70_37	rna	INS	1.000:1.000	A
FRG1	2483	genome.wustl.edu	37	4	190882978	190882980	+	Splice_Site	DEL	AAG	AAG	-			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:190882978_190882980delAAG	ENST00000226798.4	+	8	853_855	c.631_633delAAG	c.(631-633)aagdel	p.K212del		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	212					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCTTTACAGAAAGAAATTTCAGA	0.276																																																	0																																										SO:0001630	splice_region_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.630-1AAG>-	4.37:g.190882978_190882980delAAG			A8K775	In_Frame_Del	DEL	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	p.K212in_frame_del	ENST00000226798.4	37	c.631_633	CCDS34121.1	4																																																																																			FRG1	-	pfam_FRG1		0.276	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4	AAG	NM_004477	In_Frame_Del	190882980	+1	no_errors	ENST00000226798	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
FSCN1	6624	genome.wustl.edu	37	7	5643567	5643567	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:5643567C>T	ENST00000382361.3	+	4	1299	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	FSCN1_ENST00000340250.6_Silent_p.I374I	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	395					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ATGGCTTCATCGGCTGCCGCA	0.592																																																	0													62.0	59.0	60.0					7																	5643567		2203	4300	6503	SO:0001819	synonymous_variant	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1185C>T	7.37:g.5643567C>T			A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.I395	ENST00000382361.3	37	c.1185	CCDS5342.1	7																																																																																			FSCN1	-	pfam_Fascin-domain,superfamily_Actin_cross-linking		0.592	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3	C	NM_003088		5643567	+1	no_errors	ENST00000382361	ensembl	human	known	70_37	silent	SNP	0.220	T
GALNT7	51809	genome.wustl.edu	37	4	174169343	174169343	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:174169343C>T	ENST00000265000.4	+	2	422	c.339C>T	c.(337-339)ctC>ctT	p.L113L	GALNT7_ENST00000512285.1_Silent_p.L113L	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	113					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GGCAGTATCTCACATTTAAGC	0.463																																																	0													89.0	80.0	83.0					4																	174169343		2203	4300	6503	SO:0001819	synonymous_variant	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.339C>T	4.37:g.174169343C>T			B3KQU3|Q7Z5W7|Q9UJ28	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L113	ENST00000265000.4	37	c.339	CCDS3815.1	4																																																																																			GALNT7	-	NULL		0.463	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	C	NM_017423		174169343	+1	no_errors	ENST00000265000	ensembl	human	known	70_37	silent	SNP	1.000	T
GJC2	57165	genome.wustl.edu	37	1	228345525	228345525	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:228345525C>T	ENST00000366714.2	+	2	241	c.66C>T	c.(64-66)ttC>ttT	p.F22F		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	22					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)	p.F22F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				ACTCCACCTTCGTGGGCAAGG	0.652																																																	1	Substitution - coding silent(1)	lung(1)											48.0	31.0	37.0					1																	228345525		2197	4296	6493	SO:0001819	synonymous_variant	57165			AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.66C>T	1.37:g.228345525C>T			O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.F22	ENST00000366714.2	37	c.66	CCDS1569.1	1																																																																																			GJC2	-	pfam_Connexin_N		0.652	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC2	HGNC	protein_coding	OTTHUMT00000095985.1	C	NM_020435		228345525	+1	no_errors	ENST00000366714	ensembl	human	known	70_37	silent	SNP	0.998	T
GLB1L3	112937	genome.wustl.edu	37	11	134151280	134151280	+	Silent	SNP	G	G	A	rs199664947	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:134151280G>A	ENST00000431683.2	+	4	372	c.372G>A	c.(370-372)ccG>ccA	p.P124P	GLB1L3_ENST00000389887.5_Silent_p.P124P	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	124					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCTATGTTCCGTGGAACCTGC	0.493																																																	0													218.0	220.0	220.0					11																	134151280		2201	4297	6498	SO:0001819	synonymous_variant	112937				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.372G>A	11.37:g.134151280G>A			A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.P124	ENST00000431683.2	37	c.372	CCDS44780.1	11																																																																																			GLB1L3	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF		0.493	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	G	NM_138416		134151280	+1	no_errors	ENST00000431683	ensembl	human	known	70_37	silent	SNP	0.004	A
GLB1L3	112937	genome.wustl.edu	37	11	134153651	134153651	+	Missense_Mutation	SNP	G	G	A	rs550517910		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:134153651G>A	ENST00000431683.2	+	6	548	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	GLB1L3_ENST00000389887.5_Missense_Mutation_p.R183Q	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	183					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CAAGACCCCCGGTTACTGTTG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		17308	0.001		0.0	False		,,,				2504	0.0																0													48.0	48.0	48.0					11																	134153651		1914	4115	6029	SO:0001583	missense	112937				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.548G>A	11.37:g.134153651G>A	ENSP00000396615:p.Arg183Gln		A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.R183Q	ENST00000431683.2	37	c.548	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530442	0.27387	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97888	-4.59;-4.59	4.49	-2.44	0.06502	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.89121	0.6625	N	0.04724	-0.175	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.82174	-0.0588	9	0.18276	T	0.48	.	1.2694	0.02018	0.4382:0.1595:0.2669:0.1353	.	183;183	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	Q	183	ENSP00000374537:R183Q;ENSP00000396615:R183Q	ENSP00000374537:R183Q	R	+	2	0	GLB1L3	133658861	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-0.081000	0.11321	-0.221000	0.09973	-0.441000	0.05720	CGG	GLB1L3	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF		0.567	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	G	NM_138416		134153651	+1	no_errors	ENST00000431683	ensembl	human	known	70_37	missense	SNP	0.000	A
GNAS	2778	genome.wustl.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	88	Substitution - Missense(88)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)											80.0	78.0	79.0					20																	57484421		2203	4300	6503	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.R202H	ENST00000371085.3	37	c.605	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT	GNAS	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	G	NM_000516		57484421	+1	no_errors	ENST00000354359	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR111	222611	genome.wustl.edu	37	6	47649467	47649467	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:47649467G>A	ENST00000296862.1	+	6	1172	c.1172G>A	c.(1171-1173)aGg>aAg	p.R391K	GPR111_ENST00000507065.1_Missense_Mutation_p.R323K|GPR111_ENST00000398742.2_Missense_Mutation_p.R323K			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	391	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAGGAGAGGAGGACACAGTGT	0.453																																																	0													92.0	92.0	92.0					6																	47649467		1935	4141	6076	SO:0001583	missense	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1172G>A	6.37:g.47649467G>A	ENSP00000296862:p.Arg391Lys		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R391K	ENST00000296862.1	37	c.1172		6	.	.	.	.	.	.	.	.	.	.	G	4.216	0.038867	0.08148	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.32988	2.2;2.19;1.43	5.52	2.55	0.30701	GPS domain (1);	0.475226	0.21740	N	0.069822	T	0.04724	0.0128	N	0.11818	0.18	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.22152	0.009;0.038	T	0.44997	-0.9291	10	0.15952	T	0.53	.	7.1734	0.25730	0.4058:0.0:0.5942:0.0	.	323;391	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	K	323;391;323	ENSP00000422934:R323K;ENSP00000296862:R391K;ENSP00000381727:R323K	ENSP00000296862:R391K	R	+	2	0	GPR111	47757426	0.000000	0.05858	0.021000	0.16686	0.962000	0.63368	0.238000	0.18004	0.195000	0.20347	0.585000	0.79938	AGG	GPR111	-	pfscan_GPS_dom		0.453	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	G	NM_153839		47649467	+1	no_errors	ENST00000296862	ensembl	human	known	70_37	missense	SNP	0.005	A
GPR112	139378	genome.wustl.edu	37	X	135480160	135480160	+	Splice_Site	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:135480160C>G	ENST00000394143.1	+	20	8596	c.8305C>G	c.(8305-8307)Cac>Gac	p.H2769D	GPR112_ENST00000287534.4_Splice_Site_p.H2522D|GPR112_ENST00000394141.1_Splice_Site_p.H2564D|GPR112_ENST00000370652.1_Splice_Site_p.H2769D|GPR112_ENST00000412101.1_Splice_Site_p.H2564D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2769				Missing (in Ref. 1; AAN46668). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATAGCTTTTCAGTAAGTTGA	0.378																																																	0													149.0	121.0	131.0					X																	135480160		2203	4300	6503	SO:0001630	splice_region_variant	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8306+1C>G	X.37:g.135480160C>G			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.H2769D	ENST00000394143.1	37	c.8305	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853423	0.71719	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	6.17	4.36	0.52297	GPCR, family 2-like (1);	.	.	.	.	T	0.31040	0.0784	N	0.21448	0.665	0.23210	N	0.99811	P;B	0.43973	0.823;0.051	B;B	0.43754	0.43;0.115	T	0.14062	-1.0486	9	0.66056	D	0.02	.	5.6719	0.17728	0.1142:0.5534:0.2541:0.0783	.	2564;2769	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	D	2769;2769;2564;2522;2564	ENSP00000377699:H2769D;ENSP00000359686:H2769D;ENSP00000416526:H2564D;ENSP00000287534:H2522D;ENSP00000377697:H2564D	ENSP00000287534:H2522D	H	+	1	0	GPR112	135307826	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.106000	0.50322	1.359000	0.45940	0.600000	0.82982	CAC	GPR112	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.378	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	C		Missense_Mutation	135480160	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	1.000	G
GPR124	25960	genome.wustl.edu	37	8	37697140	37697140	+	Splice_Site	SNP	G	G	A	rs143283233		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr8:37697140G>A	ENST00000412232.2	+	16	2524	c.2511G>A	c.(2509-2511)gcG>gcA	p.A837A	GPR124_ENST00000315215.7_Splice_Site_p.A620A	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	837					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCTGCCAGGCGGTAAGCAGGA	0.582																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	68.0	65.0	66.0		2511	-2.4	1.0	8	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	GPR124	NM_032777.9		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		837/1339	37697140	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2511+1G>A	8.37:g.37697140G>A			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.A837	ENST00000412232.2	37	c.2511	CCDS6097.2	8																																																																																			GPR124	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.582	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	G		Silent	37697140	+1	no_errors	ENST00000412232	ensembl	human	known	70_37	silent	SNP	0.459	A
GPR153	387509	genome.wustl.edu	37	1	6313808	6313808	+	Silent	SNP	G	G	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:6313808G>T	ENST00000377893.2	-	3	1015	c.756C>A	c.(754-756)atC>atA	p.I252I		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGCAGTCGTAGATGAAGACTA	0.647																																																	0													102.0	104.0	104.0					1																	6313808		2203	4300	6503	SO:0001819	synonymous_variant	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.756C>A	1.37:g.6313808G>T			Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.I252	ENST00000377893.2	37	c.756	CCDS64.1	1																																																																																			GPR153	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153/162		0.647	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6313808	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	silent	SNP	0.999	T
GPR153	387509	genome.wustl.edu	37	1	6314904	6314904	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:6314904G>A	ENST00000377893.2	-	2	321	c.62C>T	c.(61-63)tCc>tTc	p.S21F		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGCCAGCAGGGAGAGGCCCCC	0.652																																																	0													41.0	46.0	44.0					1																	6314904		2203	4300	6503	SO:0001583	missense	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.62C>T	1.37:g.6314904G>A	ENSP00000367125:p.Ser21Phe		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.S21F	ENST00000377893.2	37	c.62	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952833	0.53293	.	.	ENSG00000158292	ENST00000377893	T	0.40225	1.04	5.42	4.51	0.55191	.	0.056769	0.64402	N	0.000001	T	0.32852	0.0843	L	0.29908	0.895	0.53688	D	0.999972	B	0.16802	0.019	B	0.17098	0.017	T	0.10291	-1.0636	10	0.54805	T	0.06	-30.4417	13.035	0.58864	0.0788:0.0:0.9212:0.0	.	21	Q6NV75	GP153_HUMAN	F	21	ENSP00000367125:S21F	ENSP00000367125:S21F	S	-	2	0	GPR153	6237491	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	7.897000	0.87356	1.280000	0.44463	0.557000	0.71058	TCC	GPR153	-	prints_GPCR_153/162		0.652	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6314904	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR64	10149	genome.wustl.edu	37	X	19046342	19046342	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:19046342C>T	ENST00000379869.3	-	10	536	c.373G>A	c.(373-375)Gag>Aag	p.E125K	GPR64_ENST00000357544.3_Missense_Mutation_p.E95K|GPR64_ENST00000356606.4_Missense_Mutation_p.E111K|GPR64_ENST00000379878.3_Missense_Mutation_p.E109K|GPR64_ENST00000354791.3_Missense_Mutation_p.E109K|GPR64_ENST00000379876.1_Missense_Mutation_p.E101K|GPR64_ENST00000340581.3_Missense_Mutation_p.E95K|GPR64_ENST00000357991.3_Missense_Mutation_p.E122K|GPR64_ENST00000379873.2_Missense_Mutation_p.E125K|GPR64_ENST00000360279.4_Missense_Mutation_p.E103K	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	125					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AACATGATCTCACCTCTAAAA	0.254																																																	0													40.0	41.0	41.0					X																	19046342		2186	4247	6433	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.373G>A	X.37:g.19046342C>T	ENSP00000369198:p.Glu125Lys		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E125K	ENST00000379869.3	37	c.373	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804207	0.70682	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581;ENST00000397917	T;T;T;T;T;T;T;T;T;T	0.38240	1.28;1.39;1.39;1.41;1.4;1.44;1.4;1.44;1.43;1.15	6.16	6.16	0.99307	.	0.000000	0.56097	D	0.000040	T	0.49626	0.1568	L	0.34521	1.04	0.38101	D	0.937259	D;B;B;B;B;P;B;B;B;B;B	0.69078	0.997;0.448;0.448;0.448;0.448;0.702;0.448;0.448;0.448;0.32;0.32	D;P;P;P;P;P;P;P;P;B;B	0.75020	0.985;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.348;0.348	T	0.54337	-0.8309	10	0.87932	D	0	.	14.9505	0.71071	0.0:1.0:0.0:0.0	.	95;87;95;101;109;125;103;111;122;125;109	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	K	125;109;109;101;95;125;103;122;111;95;48	ENSP00000369202:E125K;ENSP00000369207:E109K;ENSP00000346845:E109K;ENSP00000369205:E101K;ENSP00000350152:E95K;ENSP00000369198:E125K;ENSP00000353421:E103K;ENSP00000350680:E122K;ENSP00000349015:E111K;ENSP00000344972:E95K	ENSP00000344972:E95K	E	-	1	0	GPR64	18956263	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.549000	0.53681	2.614000	0.88457	0.594000	0.82650	GAG	GPR64	-	NULL		0.254	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	C			19046342	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	missense	SNP	1.000	T
GRIN2C	2905	genome.wustl.edu	37	17	72842272	72842272	+	Silent	SNP	G	G	A	rs546891526		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:72842272G>A	ENST00000293190.5	-	11	2429	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	GRIN2C_ENST00000347612.4_Silent_p.I761I	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	761					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.I761I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTGCATGGCGATGCCGTAGC	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20471	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	central_nervous_system(1)											185.0	132.0	150.0					17																	72842272		2203	4300	6503	SO:0001819	synonymous_variant	2905				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2283C>T	17.37:g.72842272G>A			B2RTT1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I761	ENST00000293190.5	37	c.2283	CCDS32724.1	17																																																																																			GRIN2C	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.602	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	G			72842272	-1	no_errors	ENST00000293190	ensembl	human	known	70_37	silent	SNP	1.000	A
GPS1	2873	genome.wustl.edu	37	17	80014956	80014956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:80014956G>T	ENST00000306823.6	+	13	1452	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	GPS1_ENST00000355130.2_Nonsense_Mutation_p.E513*|GPS1_ENST00000578552.1_Nonsense_Mutation_p.E473*|GPS1_ENST00000320548.4_Nonsense_Mutation_p.E457*|GPS1_ENST00000392358.2_Nonsense_Mutation_p.E513*			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	477					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAGCCAGGGGGAGCTGACTCC	0.677																																																	0													42.0	45.0	44.0					17																	80014956		2203	4299	6502	SO:0001587	stop_gained	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.1429G>T	17.37:g.80014956G>T	ENSP00000302873:p.Glu477*		Q8NA10|Q9BWL1	Nonsense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.E513*	ENST00000306823.6	37	c.1537	CCDS32774.1	17	.	.	.	.	.	.	.	.	.	.	g	41	9.005155	0.99033	.	.	ENSG00000169727	ENST00000392358;ENST00000306823;ENST00000355130	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	17.8313	0.88683	0.0:0.0:1.0:0.0	.	.	.	.	X	513;477;513	.	ENSP00000302873:E477X	E	+	1	0	GPS1	77608245	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.054000	0.93866	2.441000	0.82636	0.457000	0.33378	GAG	GPS1	-	NULL		0.677	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1	G	NM_212492		80014956	+1	no_errors	ENST00000355130	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GSTCD	79807	genome.wustl.edu	37	4	106640343	106640343	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:106640343G>A	ENST00000515279.1	+	3	773	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GSTCD_ENST00000507281.1_Missense_Mutation_p.E98K|GSTCD_ENST00000360505.5_Missense_Mutation_p.E185K|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Missense_Mutation_p.E98K|GSTCD_ENST00000394728.3_Missense_Mutation_p.E185K			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	185	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AAAGCTTAGTGAGCCTGTTAG	0.453																																																	0													108.0	117.0	114.0					4																	106640343		2203	4300	6503	SO:0001583	missense	79807			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.553G>A	4.37:g.106640343G>A	ENSP00000422354:p.Glu185Lys		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like	p.E185K	ENST00000515279.1	37	c.553	CCDS43257.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.389752	0.95988	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.17	5.17	0.71159	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.104475	0.64402	D	0.000004	T	0.78381	0.4274	M	0.73962	2.25	0.80722	D	1	D;D	0.62365	0.991;0.966	D;P	0.64506	0.926;0.794	T	0.78550	-0.2161	9	0.48119	T	0.1	-1.6532	18.8657	0.92292	0.0:0.0:1.0:0.0	.	98;185	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	K	98;98;185;185;185	.	ENSP00000353695:E185K	E	+	1	0	GSTCD	106859792	1.000000	0.71417	0.947000	0.38551	0.986000	0.74619	8.880000	0.92407	2.684000	0.91462	0.650000	0.86243	GAG	GSTCD	-	superfamily_Glutathione-S-Trfase_C-like		0.453	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSTCD	HGNC	protein_coding	OTTHUMT00000363981.1	G	NM_024751		106640343	+1	no_errors	ENST00000360505	ensembl	human	known	70_37	missense	SNP	1.000	A
GTF3C1	2975	genome.wustl.edu	37	16	27561137	27561137	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr16:27561137C>G	ENST00000356183.4	-	1	90	c.75G>C	c.(73-75)tgG>tgC	p.W25C	KIAA0556_ENST00000261588.4_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.W25C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	25					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGCCGGCTCCACAGCGCTG	0.682																																																	0													22.0	26.0	25.0					16																	27561137		2196	4299	6495	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.75G>C	16.37:g.27561137C>G	ENSP00000348510:p.Trp25Cys		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.W25C	ENST00000356183.4	37	c.75	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123093	0.77436	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.32272	1.46	4.68	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.55832	0.1945	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61023	-0.7146	10	0.87932	D	0	.	12.2231	0.54445	0.0:0.9159:0.0:0.0841	.	25;25	Q12789;Q12789-3	TF3C1_HUMAN;.	C	25	ENSP00000348510:W25C	ENSP00000348510:W25C	W	-	3	0	GTF3C1	27468638	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.983000	0.63832	0.947000	0.37659	0.555000	0.69702	TGG	GTF3C1	-	NULL		0.682	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27561137	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	1.000	G
GUCY1B3	2983	genome.wustl.edu	37	4	156723668	156723668	+	Silent	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:156723668C>G	ENST00000264424.8	+	10	1432	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	GUCY1B3_ENST00000507146.1_Silent_p.L425L|GUCY1B3_ENST00000503520.1_Silent_p.L417L|GUCY1B3_ENST00000502959.1_Silent_p.L472L|GUCY1B3_ENST00000505764.1_Silent_p.L430L|GUCY1B3_ENST00000505154.1_Silent_p.L382L|GUCY1B3_ENST00000513437.1_Silent_p.L382L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	450	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TCAACCTCCTCAACGACCTCT	0.458																																																	0													82.0	82.0	82.0					4																	156723668		2031	4200	6231	SO:0001819	synonymous_variant	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1350C>G	4.37:g.156723668C>G			B7Z426|Q86WY5	Silent	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L450	ENST00000264424.8	37	c.1350	CCDS47154.1	4																																																																																			GUCY1B3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.458	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	C			156723668	+1	no_errors	ENST00000264424	ensembl	human	known	70_37	silent	SNP	1.000	G
HAUS2	55142	genome.wustl.edu	37	15	42853584	42853584	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:42853584G>A	ENST00000260372.3	+	4	436	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	HAUS2_ENST00000568876.1_Missense_Mutation_p.E94K|HAUS2_ENST00000568846.2_3'UTR	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	125					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						CTTACCTATTGAAGCTGTTTA	0.368																																																	0													107.0	98.0	101.0					15																	42853584		2203	4299	6502	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"""HAUS augmin-like complex subunits"""	25530	protein-coding gene	gene with protein product		613429	"""chromosome 15 open reading frame 25"", ""centrosomal protein 27kDa"""	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.373G>A	15.37:g.42853584G>A	ENSP00000260372:p.Glu125Lys		C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.E125K	ENST00000260372.3	37	c.373	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247206	0.59103	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.55234	0.53	5.99	5.99	0.97316	.	0.173050	0.51477	D	0.000090	T	0.65760	0.2722	L	0.60455	1.87	0.39684	D	0.970945	P;D	0.63880	0.607;0.993	B;P	0.60886	0.187;0.88	T	0.66416	-0.5929	10	0.51188	T	0.08	-6.5492	14.616	0.68549	0.0709:0.0:0.9291:0.0	.	94;125	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	K	125;94	ENSP00000260372:E125K	ENSP00000260372:E125K	E	+	1	0	HAUS2	40640876	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.495000	0.60353	2.840000	0.97914	0.655000	0.94253	GAA	HAUS2	-	NULL		0.368	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS2	HGNC	protein_coding	OTTHUMT00000253173.1	G	NM_018097		42853584	+1	no_errors	ENST00000260372	ensembl	human	known	70_37	missense	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	185976331	185976331	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:185976331G>A	ENST00000271588.4	+	30	4776	c.4547G>A	c.(4546-4548)cGg>cAg	p.R1516Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1516Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1516	Ig-like C2-type 12.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGAATGCACGGAGAAATGAC	0.388																																																	0													110.0	109.0	110.0					1																	185976331		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4547G>A	1.37:g.185976331G>A	ENSP00000271588:p.Arg1516Gln		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R1516Q	ENST00000271588.4	37	c.4547	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004039	0.93287	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65364	-0.15;-0.15	5.76	4.84	0.62591	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055755	0.64402	D	0.000001	T	0.65069	0.2656	N	0.25332	0.735	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.55761	-0.8090	10	0.13853	T	0.58	.	14.5842	0.68312	0.07:0.0:0.93:0.0	.	1516	Q96RW7	HMCN1_HUMAN	Q	1516	ENSP00000271588:R1516Q;ENSP00000356462:R1516Q	ENSP00000271588:R1516Q	R	+	2	0	HMCN1	184242954	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.363000	0.79516	2.880000	0.98712	0.650000	0.86243	CGG	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		185976331	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	A
HPN	3249	genome.wustl.edu	37	19	35557160	35557160	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:35557160C>T	ENST00000262626.2	+	13	2048	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	HPN_ENST00000597419.1_Missense_Mutation_p.S250F|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.S408F	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	408					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CAGACTCACTCCGAAGCCAGC	0.652																																																	0													42.0	43.0	42.0					19																	35557160		2203	4300	6503	SO:0001583	missense	3249				CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1223C>T	19.37:g.35557160C>T	ENSP00000262626:p.Ser408Phe		B2RDS4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Hepsin-SRCR,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S408F	ENST00000262626.2	37	c.1223	CCDS32993.1	19	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342162	0.41498	.	.	ENSG00000105707	ENST00000262626;ENST00000392226	D;D	0.89196	-2.48;-2.48	4.72	3.68	0.42216	.	0.307092	0.29884	N	0.010957	D	0.92103	0.7497	M	0.77616	2.38	0.80722	D	1	D	0.71674	0.998	P	0.58721	0.844	D	0.92122	0.5705	10	0.87932	D	0	.	10.0722	0.42339	0.2006:0.7994:0.0:0.0	.	408	P05981	HEPS_HUMAN	F	408	ENSP00000262626:S408F;ENSP00000376060:S408F	ENSP00000262626:S408F	S	+	2	0	HPN	40249000	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	2.562000	0.45914	1.192000	0.43071	-0.321000	0.08615	TCC	HPN	-	NULL		0.652	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPN	HGNC	protein_coding	OTTHUMT00000461573.1	C	NM_002151		35557160	+1	no_errors	ENST00000262626	ensembl	human	known	70_37	missense	SNP	1.000	T
HSPA4L	22824	genome.wustl.edu	37	4	128726255	128726255	+	Missense_Mutation	SNP	T	T	C	rs139697778		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:128726255T>C	ENST00000296464.4	+	9	1424	c.1013T>C	c.(1012-1014)aTa>aCa	p.I338T	HSPA4L_ENST00000508776.1_Missense_Mutation_p.I338T|HSPA4L_ENST00000439123.2_Missense_Mutation_p.I369T|HSPA4L_ENST00000505726.1_Missense_Mutation_p.I312T	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	338					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATTAGTAGTATAGAAATTGTA	0.318																																																	0								T	THR/ILE	0,4406		0,0,2203	43.0	43.0	43.0		1013	4.7	1.0	4	dbSNP_134	43	1,8597	1.2+/-3.3	0,1,4298	no	missense	HSPA4L	NM_014278.2	89	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	338/840	128726255	1,13003	2203	4299	6502	SO:0001583	missense	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1013T>C	4.37:g.128726255T>C	ENSP00000296464:p.Ile338Thr		A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.I369T	ENST00000296464.4	37	c.1106	CCDS3734.1	4	.	.	.	.	.	.	.	.	.	.	T	21.6	4.179925	0.78564	0.0	1.16E-4	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.71	4.71	0.59529	Heat shock protein 70, conserved site (1);	0.119512	0.56097	D	0.000021	T	0.59528	0.2200	M	0.87900	2.915	0.58432	D	0.999998	P;D;D	0.53619	0.908;0.961;0.961	P;P;P	0.56343	0.796;0.655;0.655	T	0.68961	-0.5271	10	0.87932	D	0	.	14.6369	0.68696	0.0:0.0:0.0:1.0	.	312;338;338	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	T	338;369;338;297;312	ENSP00000422482:I338T;ENSP00000393926:I369T;ENSP00000296464:I338T;ENSP00000427305:I297T;ENSP00000425645:I312T	ENSP00000296464:I338T	I	+	2	0	HSPA4L	128945705	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.236000	0.78154	2.108000	0.64289	0.533000	0.62120	ATA	HSPA4L	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam		0.318	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4L	HGNC	protein_coding	OTTHUMT00000257096.3	T	NM_014278		128726255	+1	no_errors	ENST00000439123	ensembl	human	known	70_37	missense	SNP	1.000	C
IAPP	3375	genome.wustl.edu	37	12	21531188	21531188	+	Missense_Mutation	SNP	G	G	A	rs200996235		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:21531188G>A	ENST00000240652.3	+	3	234	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	IAPP_ENST00000539393.1_Missense_Mutation_p.R33Q|IAPP_ENST00000542023.1_Missense_Mutation_p.G64R|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	33					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						GTGGAAAAGCGGAAATGCAAC	0.428																																																	0													117.0	111.0	113.0					12																	21531188		2203	4300	6503	SO:0001583	missense	3375				CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"""Endogenous ligands"""	5329	protein-coding gene	gene with protein product	"""amylin"""	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.98G>A	12.37:g.21531188G>A	ENSP00000240652:p.Arg33Gln		Q0ZD87|Q14598	Missense_Mutation	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep	p.R33Q	ENST00000240652.3	37	c.98	CCDS8688.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.665555|2.665555	0.47677|0.47677	.|.	.|.	ENSG00000121351|ENSG00000121351	ENST00000542023;ENST00000535428|ENST00000539393;ENST00000240652;ENST00000537593	.|T;T;T	.|0.25579	.|1.79;1.79;1.79	4.98|4.98	2.14|2.14	0.27477|0.27477	.|Calcitonin peptide-like (1);	.|0.121405	.|0.53938	.|D	.|0.000049	T|T	0.40423|0.40423	0.1116|0.1116	.|.	.|.	.|.	0.24613|0.24613	N|N	0.993715|0.993715	.|D	.|0.76494	.|0.999	.|D	.|0.65323	.|0.934	T|T	0.17930|0.17930	-1.0353|-1.0353	4|9	.|0.62326	.|D	.|0.03	0.2058|0.2058	6.2289|6.2289	0.20724|0.20724	0.1557:0.0:0.696:0.1483|0.1557:0.0:0.696:0.1483	.|.	.|33	.|P10997	.|IAPP_HUMAN	R|Q	64;29|33	.|ENSP00000437357:R33Q;ENSP00000240652:R33Q;ENSP00000445980:R33Q	.|ENSP00000240652:R33Q	G|R	+|+	1|2	0|0	IAPP|IAPP	21422455|21422455	1.000000|1.000000	0.71417|0.71417	0.097000|0.097000	0.21041|0.21041	0.201000|0.201000	0.24016|0.24016	5.601000|5.601000	0.67606|0.67606	0.149000|0.149000	0.19098|0.19098	-0.157000|-0.157000	0.13467|0.13467	GGA|CGG	IAPP	-	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep		0.428	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IAPP	HGNC	protein_coding	OTTHUMT00000402356.1	G	NM_000415		21531188	+1	no_errors	ENST00000240652	ensembl	human	known	70_37	missense	SNP	0.966	A
IDS	3423	genome.wustl.edu	37	X	148584733	148584733	+	Intron	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:148584733C>T	ENST00000340855.6	-	3	628				IDS_ENST00000490775.1_Intron|IDS_ENST00000370441.4_Intron|IDS_ENST00000427113.2_Intron|IDS_ENST00000422081.2_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000370443.4_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.R176Q	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCGAGGGACTCGCCCAGCCAG	0.512																																																	0																																										SO:0001627	intron_variant	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.418+108G>A	X.37:g.148584733C>T			D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R176Q	ENST00000340855.6	37	c.527	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811557	0.32053	.	.	ENSG00000010404	ENST00000428056	D	0.99458	-5.93	3.77	-1.86	0.07760	.	.	.	.	.	D	0.97309	0.9120	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.93893	0.7181	8	0.72032	D	0.01	.	4.4478	0.11606	0.0:0.3829:0.1655:0.4516	.	176	O60597	.	Q	176	ENSP00000390241:R176Q	ENSP00000390241:R176Q	R	-	2	0	IDS	148392638	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.133000	0.10451	-0.749000	0.04747	-0.537000	0.04273	CGA	IDS	-	NULL		0.512	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	C			148584733	-1	no_errors	ENST00000428056	ensembl	human	known	70_37	missense	SNP	0.000	T
IFIH1	64135	genome.wustl.edu	37	2	163128822	163128822	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:163128822C>G	ENST00000263642.2	-	13	2925	c.2530G>C	c.(2530-2532)Gag>Cag	p.E844Q		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	844	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTAACTGTCTCATGTTCGATA	0.418																																																	0													106.0	92.0	97.0					2																	163128822		2203	4300	6503	SO:0001583	missense	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2530G>C	2.37:g.163128822C>G	ENSP00000263642:p.Glu844Gln		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E844Q	ENST00000263642.2	37	c.2530	CCDS2217.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.359673	0.95854	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.08720	3.06	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.044318	0.85682	D	0.000000	T	0.32376	0.0827	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.01172	-1.1429	10	0.87932	D	0	-22.0913	19.9729	0.97289	0.0:1.0:0.0:0.0	.	844	Q9BYX4	IFIH1_HUMAN	Q	844	ENSP00000263642:E844Q	ENSP00000263642:E844Q	E	-	1	0	IFIH1	162837068	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.510000	0.81708	2.716000	0.92895	0.650000	0.86243	GAG	IFIH1	-	pfscan_Helicase_C		0.418	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIH1	HGNC	protein_coding	OTTHUMT00000255078.2	C	NM_022168		163128822	-1	no_errors	ENST00000263642	ensembl	human	known	70_37	missense	SNP	1.000	G
ITPR1	3708	genome.wustl.edu	37	3	4712601	4712601	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:4712601G>C	ENST00000443694.2	+	17	2150	c.2150G>C	c.(2149-2151)aGc>aCc	p.S717T	ITPR1_ENST00000302640.8_Missense_Mutation_p.S717T|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S717T|ITPR1_ENST00000423119.2_Missense_Mutation_p.S732T|ITPR1_ENST00000354582.6_Missense_Mutation_p.S732T|ITPR1_ENST00000357086.4_Missense_Mutation_p.S732T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	732					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GACGTTCTCAGCTACTACAGG	0.507																																																	0													61.0	63.0	63.0					3																	4712601		2018	4166	6184	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2150G>C	3.37:g.4712601G>C	ENSP00000401671:p.Ser717Thr		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.S717T	ENST00000443694.2	37	c.2150	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232458	0.22626	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.90676	-2.7;-2.71;-2.7;-2.7;-2.7;-2.7	4.38	4.38	0.52667	.	0.122764	0.85682	D	0.000000	T	0.73001	0.3531	N	0.01493	-0.835	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.11329	0.002;0.002;0.006	T	0.69168	-0.5216	10	0.12766	T	0.61	.	10.7413	0.46156	0.087:0.0:0.913:0.0	.	717;732;732	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	T	732;717;732;732;732;717;717	ENSP00000306253:S717T;ENSP00000346595:S732T;ENSP00000405934:S732T;ENSP00000349597:S732T;ENSP00000397885:S717T;ENSP00000401671:S717T	ENSP00000306253:S717T	S	+	2	0	ITPR1	4687601	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.428000	0.73383	2.263000	0.75096	0.655000	0.94253	AGC	ITPR1	-	NULL		0.507	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4712601	+1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	1.000	C
KDM2A	22992	genome.wustl.edu	37	11	66995615	66995615	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:66995615G>C	ENST00000529006.2	+	11	1511	c.1065G>C	c.(1063-1065)caG>caC	p.Q355H	KDM2A_ENST00000398645.2_Missense_Mutation_p.Q355H|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	355					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGAATTTCAGAAAGAGTCCC	0.458																																																	0													158.0	150.0	153.0					11																	66995615		1884	4118	6002	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1065G>C	11.37:g.66995615G>C	ENSP00000432786:p.Gln355His		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q355H	ENST00000529006.2	37	c.1065	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451030	0.63290	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.48522	0.81;2.09	6.02	3.07	0.35406	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.52011	1.625	0.80722	D	1	P	0.46220	0.874	B	0.36134	0.218	T	0.19976	-1.0289	10	0.54805	T	0.06	-17.9909	8.684	0.34225	0.3013:0.0:0.6987:0.0	.	355	Q9Y2K7	KDM2A_HUMAN	H	355	ENSP00000381640:Q355H;ENSP00000432786:Q355H	ENSP00000381640:Q355H	Q	+	3	2	KDM2A	66752191	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.884000	0.56175	0.834000	0.34852	0.650000	0.86243	CAG	KDM2A	-	NULL		0.458	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		66995615	+1	no_errors	ENST00000529006	ensembl	human	known	70_37	missense	SNP	1.000	C
KDM2A	22992	genome.wustl.edu	37	11	66999107	66999107	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:66999107G>C	ENST00000529006.2	+	12	1601	c.1155G>C	c.(1153-1155)ttG>ttC	p.L385F	KDM2A_ENST00000398645.2_Missense_Mutation_p.L385F|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	385					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCCGACGCTTGAGCAGCAGGC	0.488																																																	0													75.0	70.0	72.0					11																	66999107		1946	4164	6110	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1155G>C	11.37:g.66999107G>C	ENSP00000432786:p.Leu385Phe		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L385F	ENST00000529006.2	37	c.1155	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508589	0.44660	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.32988	1.43;1.43	5.77	3.75	0.43078	.	0.936133	0.09010	N	0.861607	T	0.19525	0.0469	N	0.08118	0	0.80722	D	1	B	0.23128	0.08	B	0.17433	0.018	T	0.04178	-1.0971	10	0.33141	T	0.24	-4.7723	14.9682	0.71210	0.0:0.3751:0.6249:0.0	.	385	Q9Y2K7	KDM2A_HUMAN	F	385	ENSP00000381640:L385F;ENSP00000432786:L385F	ENSP00000381640:L385F	L	+	3	2	KDM2A	66755683	0.965000	0.33210	1.000000	0.80357	0.998000	0.95712	0.188000	0.17018	1.537000	0.49254	0.655000	0.94253	TTG	KDM2A	-	NULL		0.488	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		66999107	+1	no_errors	ENST00000529006	ensembl	human	known	70_37	missense	SNP	0.999	C
KIF23	9493	genome.wustl.edu	37	15	69714019	69714019	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:69714019C>T	ENST00000260363.4	+	4	361	c.244C>T	c.(244-246)Cac>Tac	p.H82Y	KIF23_ENST00000352331.4_Missense_Mutation_p.H82Y|KIF23_ENST00000395392.2_Missense_Mutation_p.H82Y|KIF23_ENST00000558585.1_5'Flank|KIF23_ENST00000559279.1_Missense_Mutation_p.H82Y|KIF23_ENST00000537891.1_5'Flank	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	82	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ATTTGGCACTCACACCACCCA	0.368																																																	0													140.0	138.0	139.0					15																	69714019		2199	4298	6497	SO:0001583	missense	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.244C>T	15.37:g.69714019C>T	ENSP00000260363:p.His82Tyr		Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H82Y	ENST00000260363.4	37	c.244	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412251	0.42817	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	T;T;T	0.72394	-0.65;-0.65;-0.65	5.88	4.01	0.46588	Kinesin, motor domain (4);	0.845278	0.10981	N	0.612699	T	0.53916	0.1826	N	0.11845	0.185	0.53688	D	0.999975	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.40059	-0.9583	10	0.45353	T	0.12	.	11.0843	0.48078	0.0:0.8505:0.0:0.1495	.	82;82	Q02241-2;Q02241	.;KIF23_HUMAN	Y	82	ENSP00000260363:H82Y;ENSP00000304978:H82Y;ENSP00000378790:H82Y	ENSP00000260363:H82Y	H	+	1	0	KIF23	67501073	0.806000	0.28996	0.370000	0.25965	0.885000	0.51271	1.671000	0.37513	0.833000	0.34828	0.591000	0.81541	CAC	KIF23	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.368	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		C			69714019	+1	no_errors	ENST00000260363	ensembl	human	known	70_37	missense	SNP	0.381	T
KIR3DL1	3811	genome.wustl.edu	37	19	55294399	55294399	+	Intron	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:55294399G>A	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Silent_p.L273L|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000336077.6_Silent_p.L247L|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Silent_p.L247L|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TGCACATTCTGATTGGGACCT	0.448																																																	0													20.0	17.0	18.0					19																	55294399		2158	4142	6300	SO:0001627	intron_variant	3802			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-34590G>A	19.37:g.55294399G>A			O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.L247	ENST00000538269.1	37	c.741		19																																																																																			KIR2DL1	-	NULL		0.448	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	HGNC	protein_coding		G	NM_013289		55294399	+1	no_errors	ENST00000336077	ensembl	human	known	70_37	silent	SNP	0.050	A
KLF15	28999	genome.wustl.edu	37	3	126071330	126071330	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:126071330C>T	ENST00000296233.3	-	2	666	c.436G>A	c.(436-438)Gag>Aag	p.E146K	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	146					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TCCAGAAACTCTTCAATCTCC	0.587																																																	0													46.0	48.0	48.0					3																	126071330		2203	4300	6503	SO:0001583	missense	28999			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.436G>A	3.37:g.126071330C>T	ENSP00000296233:p.Glu146Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E146K	ENST00000296233.3	37	c.436	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267438	0.80469	.	.	ENSG00000163884	ENST00000296233	T	0.15603	2.41	4.45	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	M	0.66939	2.045	0.58432	D	0.999999	D	0.63880	0.993	D	0.72625	0.978	T	0.18777	-1.0326	10	0.87932	D	0	.	11.8886	0.52616	0.1763:0.8236:0.0:0.0	.	146	Q9UIH9	KLF15_HUMAN	K	146	ENSP00000296233:E146K	ENSP00000296233:E146K	E	-	1	0	KLF15	127554020	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.771000	0.85420	1.115000	0.41800	0.591000	0.81541	GAG	KLF15	-	NULL		0.587	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	C	NM_014079		126071330	-1	no_errors	ENST00000296233	ensembl	human	known	70_37	missense	SNP	1.000	T
KLHL10	317719	genome.wustl.edu	37	17	39994305	39994305	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:39994305G>A	ENST00000293303.4	+	1	274	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	KLHL10_ENST00000485613.1_3'UTR|RN7SL871P_ENST00000583512.1_RNA|NT5C3B_ENST00000435506.2_5'Flank|NT5C3B_ENST00000521789.1_5'Flank|NT5C3B_ENST00000269534.8_5'Flank	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	41	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GCTCTGCGACGTGGTCATCAA	0.507																																																	0													148.0	151.0	150.0					17																	39994305		2076	4204	6280	SO:0001583	missense	317719			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.121G>A	17.37:g.39994305G>A	ENSP00000293303:p.Val41Met		Q6NW28|Q96MC0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V41M	ENST00000293303.4	37	c.121	CCDS42340.1	17	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935210	0.73442	.	.	ENSG00000161594	ENST00000448203;ENST00000293303;ENST00000438813	T;T;T	0.78707	-1.2;-1.2;-1.2	4.98	4.98	0.66077	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.312483	0.30723	N	0.009009	D	0.87188	0.6115	M	0.83118	2.625	0.38308	D	0.943173	D;D	0.69078	0.997;0.994	P;P	0.61477	0.852;0.889	D	0.90235	0.4282	10	0.87932	D	0	.	15.1739	0.72896	0.0:0.0:1.0:0.0	.	41;41	B4DXV2;Q6JEL2	.;KLH10_HUMAN	M	41	ENSP00000391983:V41M;ENSP00000293303:V41M;ENSP00000416221:V41M	ENSP00000293303:V41M	V	+	1	0	KLHL10	37247831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.217000	0.77982	2.622000	0.88805	0.650000	0.86243	GTG	KLHL10	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.507	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL10	HGNC	protein_coding	OTTHUMT00000326535.1	G	NM_152467		39994305	+1	no_errors	ENST00000293303	ensembl	human	known	70_37	missense	SNP	1.000	A
KLHL29	114818	genome.wustl.edu	37	2	23785231	23785231	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:23785231G>A	ENST00000486442.1	+	3	882	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	55										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						GCCTCCTGCCGCTGCCCGTGG	0.731																																																	0													4.0	8.0	7.0					2																	23785231		607	1461	2068	SO:0001819	synonymous_variant	114818				CCDS54335.1	2p23.3	2013-09-27	2013-02-22	2007-01-09	ENSG00000119771	ENSG00000119771		"""Kelch-like"", ""BTB/POZ domain containing"""	29404	protein-coding gene	gene with protein product			"""kelch repeat and BTB (POZ) domain containing 9"", ""kelch-like 29 (Drosophila)"""	KBTBD9		11572484	Standard	NM_052920		Approved	KIAA1921	uc010ykg.2	Q96CT2	OTTHUMG00000151899	ENST00000486442.1:c.165G>A	2.37:g.23785231G>A			Q8N388|Q96BF0|Q96PW7	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.P55	ENST00000486442.1	37	c.165	CCDS54335.1	2																																																																																			KLHL29	-	NULL		0.731	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	KLHL29	HGNC	protein_coding	OTTHUMT00000324315.3	G	NM_052920		23785231	+1	no_errors	ENST00000486442	ensembl	human	known	70_37	silent	SNP	0.072	A
KLHL6	89857	genome.wustl.edu	37	3	183209823	183209823	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:183209823C>T	ENST00000341319.3	-	7	1793	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	586					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ACTCCTCTGTCAGTTTCTGGG	0.657																																																	0													99.0	94.0	96.0					3																	183209823		2203	4300	6503	SO:0001819	synonymous_variant	89857			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1758G>A	3.37:g.183209823C>T			B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L586	ENST00000341319.3	37	c.1758	CCDS3245.2	3																																																																																			KLHL6	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.657	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	C	NM_130446		183209823	-1	no_errors	ENST00000341319	ensembl	human	known	70_37	silent	SNP	1.000	T
KRTAP4-12	83755	genome.wustl.edu	37	17	39279950	39279950	+	Missense_Mutation	SNP	C	C	T	rs369956813	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:39279950C>T	ENST00000394014.1	-	1	469	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	142	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcagctggggcggcagcaggt	0.672													C|||	8	0.00159744	0.0	0.0	5008	,	,		15607	0.0		0.0	False		,,,				2504	0.0082																0													18.0	24.0	22.0					17																	39279950		2191	4261	6452	SO:0001583	missense	83755			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.425G>A	17.37:g.39279950C>T	ENSP00000377582:p.Arg142His		A3KMC5|Q495I0	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R142H	ENST00000394014.1	37	c.425	CCDS32649.1	17	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773518	0.31411	.	.	ENSG00000213416	ENST00000394014	T	0.01505	4.82	5.27	2.08	0.27032	.	0.632318	0.11844	U	0.524024	T	0.01454	0.0047	L	0.32530	0.975	0.09310	N	1	B	0.33583	0.418	B	0.24155	0.051	T	0.49224	-0.8962	10	0.51188	T	0.08	.	4.2814	0.10834	0.3106:0.5115:0.0:0.1779	.	142	Q9BQ66	KR412_HUMAN	H	142	ENSP00000377582:R142H	ENSP00000377582:R142H	R	-	2	0	KRTAP4-12	36533476	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.091000	0.11146	0.277000	0.22141	-0.409000	0.06214	CGC	KRTAP4-12	-	pfam_Keratin-assoc		0.672	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-12	HGNC	protein_coding	OTTHUMT00000257777.1	C			39279950	-1	no_errors	ENST00000394014	ensembl	human	known	70_37	missense	SNP	0.000	T
LCP2	3937	genome.wustl.edu	37	5	169724598	169724598	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:169724598C>T	ENST00000046794.5	-	1	633	c.18G>A	c.(16-18)gtG>gtA	p.V6V		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	6					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		AGCGAAAGGGCACATTCCTCA	0.562																																																	0													40.0	42.0	41.0					5																	169724598		1986	4164	6150	SO:0001819	synonymous_variant	3937				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.18G>A	5.37:g.169724598C>T			A8KA25|Q53XV4	Silent	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.V6	ENST00000046794.5	37	c.18	CCDS47339.1	5																																																																																			LCP2	-	NULL		0.562	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	C	NM_005565		169724598	-1	no_errors	ENST00000046794	ensembl	human	known	70_37	silent	SNP	0.096	T
LIPG	9388	genome.wustl.edu	37	18	47101933	47101933	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr18:47101933G>A	ENST00000261292.4	+	5	1044	c.766G>A	c.(766-768)Gat>Aat	p.D256N	LIPG_ENST00000427224.2_Intron|LIPG_ENST00000580036.1_Missense_Mutation_p.D256N|LIPG_ENST00000577628.1_Missense_Mutation_p.D292N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	256					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.D256N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGGACTCAACGATGTCTTGGG	0.483																																					Pancreas(126;280 1778 12814 26243 34948)												1	Substitution - Missense(1)	large_intestine(1)											76.0	63.0	67.0					18																	47101933		2203	4300	6503	SO:0001583	missense	9388			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.766G>A	18.37:g.47101933G>A	ENSP00000261292:p.Asp256Asn		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep	p.D256N	ENST00000261292.4	37	c.766	CCDS11938.1	18	.	.	.	.	.	.	.	.	.	.	G	8.871	0.949266	0.18356	.	.	ENSG00000101670	ENST00000261292	D	0.90069	-2.61	5.72	3.9	0.45041	Lipase, N-terminal (1);	0.262486	0.37530	N	0.002057	T	0.74336	0.3703	N	0.11651	0.15	0.46396	D	0.999023	P;P	0.39443	0.592;0.674	B;B	0.35770	0.21;0.133	T	0.69232	-0.5199	10	0.11182	T	0.66	-11.8577	10.6883	0.45856	0.0684:0.0:0.7993:0.1323	.	256;256	Q9Y5X9;Q9Y5X9-2	LIPE_HUMAN;.	N	256	ENSP00000261292:D256N	ENSP00000261292:D256N	D	+	1	0	LIPG	45355931	1.000000	0.71417	0.004000	0.12327	0.491000	0.33493	6.824000	0.75288	0.739000	0.32628	0.591000	0.81541	GAT	LIPG	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.483	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPG	HGNC	protein_coding	OTTHUMT00000447546.1	G	NM_006033		47101933	+1	no_errors	ENST00000261292	ensembl	human	known	70_37	missense	SNP	0.956	A
RP5-1052I5.2	0	genome.wustl.edu	37	1	87598335	87598336	+	Intron	INS	-	-	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:87598335_87598336insC	ENST00000370548.2	+	7	839				RP5-1052I5.1_ENST00000484933.2_lincRNA|HS2ST1_ENST00000356813.4_Intron																							CTTCTCCCGGTCCCCCCTCCAG	0.649																																																	0																																										SO:0001627	intron_variant	339524																														ENST00000370548.2:c.767-961->C	1.37:g.87598341_87598341dupC				RNA	INS	-	NULL	ENST00000370548.2	37	NULL		1																																																																																			RP5-1052I5.1	-	-		0.649	RP5-1052I5.2-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	LOC339524	Clone_based_vega_gene	protein_coding	OTTHUMT00000457517.1	-			87598336	+1	no_errors	ENST00000467438	ensembl	human	known	70_37	rna	INS	0.000:0.000	C
AC011718.2	0	genome.wustl.edu	37	22	20640381	20640381	+	lincRNA	SNP	G	G	A	rs568881121		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr22:20640381G>A	ENST00000577456.1	-	0	1179																											TAGCAATGTCGTGTACAGTGT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		24692	0.001		0.0	False		,,,				2504	0.0																0																																												729461																															22.37:g.20640381G>A				RNA	SNP	-	NULL	ENST00000577456.1	37	NULL		22																																																																																			AC011718.2	-	-		0.502	AC011718.2-004	KNOWN	basic	lincRNA	LOC729461	Clone_based_vega_gene	lincRNA	OTTHUMT00000444810.1	G			20640381	-1	no_errors	ENST00000577456	ensembl	human	known	70_37	rna	SNP	0.808	A
LRP1B	53353	genome.wustl.edu	37	2	141643716	141643716	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:141643716C>T	ENST00000389484.3	-	24	4926	c.3955G>A	c.(3955-3957)Gaa>Aaa	p.E1319K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1319					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCCACTTTCAGAAAGCTTT	0.284										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													42.0	44.0	43.0					2																	141643716		2201	4296	6497	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3955G>A	2.37:g.141643716C>T	ENSP00000374135:p.Glu1319Lys		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E1319K	ENST00000389484.3	37	c.3955	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281153	0.59758	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.91011	-2.77;-2.77	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);	0.228496	0.36303	N	0.002672	D	0.90796	0.7110	L	0.39566	1.225	0.53005	D	0.999964	P;B	0.42296	0.775;0.361	P;B	0.52066	0.689;0.086	D	0.87361	0.2344	10	0.16896	T	0.51	.	18.8322	0.92144	0.0:1.0:0.0:0.0	.	502;1319	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	K	1319;1257;464	ENSP00000374135:E1319K;ENSP00000413239:E464K	ENSP00000374135:E1319K	E	-	1	0	LRP1B	141360186	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.642000	0.83385	2.673000	0.90976	0.650000	0.86243	GAA	LRP1B	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.284	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141643716	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	T
MAGED2	10916	genome.wustl.edu	37	X	54841756	54841756	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:54841756G>A	ENST00000375068.1	+	12	1695	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	MAGED2_ENST00000375060.1_Missense_Mutation_p.E403K|MAGED2_ENST00000218439.4_Missense_Mutation_p.E488K|MAGED2_ENST00000396224.1_Missense_Mutation_p.E488K|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375058.1_Missense_Mutation_p.E488K|MAGED2_ENST00000375062.4_Missense_Mutation_p.E403K|MAGED2_ENST00000347546.4_Missense_Mutation_p.E470K|MAGED2_ENST00000375053.2_Missense_Mutation_p.E488K			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	488						membrane (GO:0016020)		p.E488*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ggctgcagctgaggctgcagc	0.557																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											26.0	28.0	27.0					X																	54841756		2201	4291	6492	SO:0001583	missense	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1462G>A	X.37:g.54841756G>A	ENSP00000364209:p.Glu488Lys		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E488K	ENST00000375068.1	37	c.1462	CCDS14362.1	X	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811880	0.32053	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.41400	4.04;4.04;4.12;4.05;1.0;4.04;4.04;1.0;4.04	4.2	4.2	0.49525	.	0.000000	0.46145	D	0.000301	T	0.35799	0.0944	N	0.19112	0.55	0.31633	N	0.648767	P;P	0.52170	0.913;0.951	P;P	0.49047	0.599;0.593	T	0.43245	-0.9403	10	0.48119	T	0.1	.	12.9346	0.58307	0.0:0.0:1.0:0.0	.	403;488	Q5H907;Q9UNF1	.;MAGD2_HUMAN	K	488;488;432;470;403;488;488;403;488	ENSP00000364209:E488K;ENSP00000364193:E488K;ENSP00000336962:E432K;ENSP00000340290:E470K;ENSP00000364202:E403K;ENSP00000218439:E488K;ENSP00000364198:E488K;ENSP00000364200:E403K;ENSP00000379526:E488K	ENSP00000218439:E488K	E	+	1	0	MAGED2	54858481	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.693000	0.61753	2.098000	0.63641	0.513000	0.50165	GAG	MAGED2	-	NULL		0.557	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	G	NM_014599		54841756	+1	no_errors	ENST00000218439	ensembl	human	known	70_37	missense	SNP	1.000	A
MCOLN3	55283	genome.wustl.edu	37	1	85510918	85510918	+	Silent	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:85510918G>C	ENST00000370589.2	-	2	178	c.126C>G	c.(124-126)ctC>ctG	p.L42L	MCOLN3_ENST00000341115.4_Silent_p.L42L|MCOLN3_ENST00000370587.1_Silent_p.L42L|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	42					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AAAAAAATTTGAGTTTTCGCC	0.408																																																	0													81.0	81.0	81.0					1																	85510918		2203	4300	6503	SO:0001819	synonymous_variant	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.126C>G	1.37:g.85510918G>C			Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	pfam_PKD1_2_channel	p.L42	ENST00000370589.2	37	c.126	CCDS701.1	1																																																																																			MCOLN3	-	NULL		0.408	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	G	NM_018298		85510918	-1	no_errors	ENST00000302814	ensembl	human	known	70_37	silent	SNP	1.000	C
MCOLN3	55283	genome.wustl.edu	37	1	85510984	85510984	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:85510984G>A	ENST00000370589.2	-	2	112	c.60C>T	c.(58-60)tgC>tgT	p.C20C	MCOLN3_ENST00000341115.4_Silent_p.C20C|MCOLN3_ENST00000370587.1_Silent_p.C20C|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	20					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GGTTAAAATTGCAGCGATTTT	0.403																																																	0													58.0	57.0	57.0					1																	85510984		2203	4300	6503	SO:0001819	synonymous_variant	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.60C>T	1.37:g.85510984G>A			Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	pfam_PKD1_2_channel	p.C20	ENST00000370589.2	37	c.60	CCDS701.1	1																																																																																			MCOLN3	-	NULL		0.403	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	G	NM_018298		85510984	-1	no_errors	ENST00000302814	ensembl	human	known	70_37	silent	SNP	0.267	A
KMT2C	58508	genome.wustl.edu	37	7	151884356	151884356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:151884356C>A	ENST00000262189.6	-	33	5217	c.4999G>T	c.(4999-5001)Gaa>Taa	p.E1667*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E1667*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1667					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCAGGGAATTCTTCCTTTAAG	0.378																																																	0													84.0	90.0	88.0					7																	151884356		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4999G>T	7.37:g.151884356C>A	ENSP00000262189:p.Glu1667*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1667*	ENST00000262189.6	37	c.4999	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	47	13.560353	0.99749	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.47	5.47	0.80525	.	0.000000	0.44688	U	0.000438	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.6994	0.96047	0.0:1.0:0.0:0.0	.	.	.	.	X	1667	.	ENSP00000262189:E1667X	E	-	1	0	MLL3	151515289	1.000000	0.71417	0.943000	0.38184	0.968000	0.65278	7.776000	0.85560	2.718000	0.92993	0.579000	0.79373	GAA	MLL3	-	superfamily_HMG_superfamily,smart_HMG_superfamily		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151884356	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MNS1	55329	genome.wustl.edu	37	15	56726478	56726478	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:56726478C>G	ENST00000260453.3	-	8	1291	c.1127G>C	c.(1126-1128)aGa>aCa	p.R376T	TEX9_ENST00000352903.2_Intron|MNS1_ENST00000566386.1_5'Flank|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	376					cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CATAGTTTTTCTAAAGTTCTC	0.383																																																	0													187.0	176.0	180.0					15																	56726478		2192	4292	6484	SO:0001583	missense	55329			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.1127G>C	15.37:g.56726478C>G	ENSP00000260453:p.Arg376Thr		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	NULL	p.R376T	ENST00000260453.3	37	c.1127	CCDS10158.1	15	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752088	0.69533	.	.	ENSG00000138587	ENST00000260453	T	0.11385	2.78	5.59	4.66	0.58398	.	0.050574	0.85682	D	0.000000	T	0.26702	0.0653	M	0.80183	2.485	0.80722	D	1	D	0.63880	0.993	P	0.59825	0.864	T	0.01844	-1.1262	10	0.42905	T	0.14	-10.9126	7.8609	0.29509	0.1601:0.7578:0.0:0.0821	.	376	Q8NEH6	MNS1_HUMAN	T	376	ENSP00000260453:R376T	ENSP00000260453:R376T	R	-	2	0	MNS1	54513770	0.973000	0.33851	0.109000	0.21407	0.914000	0.54420	2.873000	0.48475	1.342000	0.45619	0.563000	0.77884	AGA	MNS1	-	NULL		0.383	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNS1	HGNC	protein_coding	OTTHUMT00000255047.2	C	NM_018365		56726478	-1	no_errors	ENST00000260453	ensembl	human	known	70_37	missense	SNP	0.873	G
MRPL4	51073	genome.wustl.edu	37	19	10363049	10363049	+	Intron	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:10363049C>G	ENST00000253099.6	+	2	344				MRPL4_ENST00000307422.5_Intron|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000588502.1_Missense_Mutation_p.L11V|MRPL4_ENST00000393733.2_Intron|MRPL4_ENST00000590669.1_Intron	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGGGTCGTCTCTCACTTTCGC	0.682																																																	0													66.0	73.0	71.0					19																	10363049		2203	4299	6502	SO:0001627	intron_variant	51073			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.58-24C>G	19.37:g.10363049C>G			A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	p.L11V	ENST00000253099.6	37	c.31	CCDS12230.1	19																																																																																			MRPL4	-	NULL		0.682	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL4	HGNC	protein_coding	OTTHUMT00000451197.1	C			10363049	+1	no_errors	ENST00000588502	ensembl	human	putative	70_37	missense	SNP	0.012	G
MUC20	200958	genome.wustl.edu	37	3	195453054	195453054	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:195453054G>A	ENST00000447234.2	+	2	1706	c.1580G>A	c.(1579-1581)aGg>aAg	p.R527K	MUC20_ENST00000436408.1_Missense_Mutation_p.R527K|MUC20_ENST00000320736.6_Missense_Mutation_p.R356K|MUC20_ENST00000445522.2_Missense_Mutation_p.R492K	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	527	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.	VTVSR -> ATG (in Ref. 5; AAH29267). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		ACAGTTAGCAGGAATCCCCTT	0.582																																																	0													61.0	59.0	60.0					3																	195453054		2073	4199	6272	SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1580G>A	3.37:g.195453054G>A	ENSP00000414350:p.Arg527Lys		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.R527K	ENST00000447234.2	37	c.1580		3	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173980	0.01646	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.14893	2.89;2.92;3.06;2.47	3.97	-7.94	0.01152	.	2.755910	0.01423	N	0.014426	T	0.06462	0.0166	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.33007	-0.9885	10	0.02654	T	1	18.6067	4.4891	0.11805	0.1119:0.4734:0.2452:0.1694	.	356	E9PH32	.	K	527;356;527;492	ENSP00000414350:R527K;ENSP00000325431:R356K;ENSP00000396774:R527K;ENSP00000405629:R492K	ENSP00000325431:R356K	R	+	2	0	MUC20	196938725	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.935000	0.01550	-2.508000	0.00506	-1.284000	0.01376	AGG	MUC20	-	NULL		0.582	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	G	NM_152673		195453054	+1	no_errors	ENST00000447234	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC4	4585	genome.wustl.edu	37	3	195506492	195506492	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:195506492C>A	ENST00000463781.3	-	2	12418	c.11959G>T	c.(11959-11961)Gtc>Ttc	p.V3987F	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V3987F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTCGGTGACAGGAAGGGGG	0.587																																																	0													9.0	6.0	7.0					3																	195506492		550	1157	1707	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11959G>T	3.37:g.195506492C>A	ENSP00000417498:p.Val3987Phe		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.V3987F	ENST00000463781.3	37	c.11959	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	c	2.277	-0.365645	0.05069	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.38077	1.33;1.16	.	.	.	.	0.000000	0.23275	U	0.049970	T	0.33469	0.0864	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	D	0.73380	0.98	T	0.21245	-1.0251	8	.	.	.	.	4.4816	0.11769	0.0:0.6679:0.0:0.3321	.	3859	E7ESK3	.	F	3987	ENSP00000417498:V3987F;ENSP00000420243:V3987F	.	V	-	1	0	MUC4	196991271	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-3.273000	0.00531	-0.525000	0.06391	0.064000	0.15345	GTC	MUC4	-	NULL		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	C	NM_018406		195506492	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.003	A
MUC4	4585	genome.wustl.edu	37	3	195506647	195506647	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:195506647G>A	ENST00000463781.3	-	2	12263	c.11804C>T	c.(11803-11805)aCc>aTc	p.T3935I	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3935I	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGAGGGGTGGCATGTCC	0.587																																																	0													19.0	18.0	19.0					3																	195506647		531	1159	1690	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11804C>T	3.37:g.195506647G>A	ENSP00000417498:p.Thr3935Ile		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.T3935I	ENST00000463781.3	37	c.11804	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	5.771	0.326603	0.10900	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33216	1.42;1.55	.	.	.	.	.	.	.	.	T	0.21718	0.0523	N	0.19112	0.55	0.09310	N	1	P	0.44006	0.824	P	0.46208	0.507	T	0.13124	-1.0521	7	.	.	.	.	6.4784	0.22049	2.0E-4:0.0:0.9998:0.0	.	3807	E7ESK3	.	I	3935	ENSP00000417498:T3935I;ENSP00000420243:T3935I	.	T	-	2	0	MUC4	196991426	0.013000	0.17824	0.011000	0.14972	0.020000	0.10135	0.979000	0.29500	0.413000	0.25759	0.064000	0.15345	ACC	MUC4	-	NULL		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195506647	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.343	A
MUC4	4585	genome.wustl.edu	37	3	195511058	195511058	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:195511058G>C	ENST00000463781.3	-	2	7852	c.7393C>G	c.(7393-7395)Ctt>Gtt	p.L2465V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L2465V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGCCAGGAAGAGGGGTGGTG	0.582																																																	0													36.0	33.0	34.0					3																	195511058		658	1587	2245	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7393C>G	3.37:g.195511058G>C	ENSP00000417498:p.Leu2465Val		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L2465V	ENST00000463781.3	37	c.7393	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	3.925	-0.017263	0.07681	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.21;1.18	.	.	.	.	.	.	.	.	T	0.16981	0.0408	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.22556	-1.0213	7	.	.	.	.	2.745	0.05264	0.0:0.4482:0.2987:0.2531	.	2465	E7ESK3	.	V	2465	ENSP00000417498:L2465V;ENSP00000420243:L2465V	.	L	-	1	0	MUC4	196995453	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-0.217000	0.09253	-0.893000	0.03930	0.000000	0.15137	CTT	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195511058	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.055	C
MUC4	4585	genome.wustl.edu	37	3	195513628	195513628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:195513628G>T	ENST00000463781.3	-	2	5282	c.4823C>A	c.(4822-4824)tCa>tAa	p.S1608*	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S1608*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTAGATGCTGAGGAAGGGCT	0.557																																																	0													15.0	18.0	17.0					3																	195513628		673	1572	2245	SO:0001587	stop_gained	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4823C>A	3.37:g.195513628G>T	ENSP00000417498:p.Ser1608*		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S1608*	ENST00000463781.3	37	c.4823	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	40	8.104192	0.98657	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8679	0.18786	8.0E-4:0.0:0.9992:0.0	.	.	.	.	X	1608	.	.	S	-	2	0	MUC4	196998023	0.698000	0.27777	0.009000	0.14445	0.009000	0.06853	2.876000	0.48498	0.088000	0.17205	0.089000	0.15464	TCA	MUC4	-	NULL		0.557	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195513628	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	nonsense	SNP	0.004	T
MUC4	4585	genome.wustl.edu	37	3	195517250	195517250	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:195517250C>T	ENST00000463781.3	-	2	1660	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D401N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	406					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGTAGAGTCTCTGGAGGTT	0.453																																																	0													158.0	146.0	150.0					3																	195517250		1934	4134	6068	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1201G>A	3.37:g.195517250C>T	ENSP00000417498:p.Asp401Asn		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.D401N	ENST00000463781.3	37	c.1201	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	6.105	0.387581	0.11581	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.52526	0.66;0.68	2.63	1.72	0.24424	.	2.317350	0.02393	U	0.079925	T	0.45276	0.1334	L	0.32530	0.975	0.09310	N	1	D;P	0.53885	0.963;0.917	P;B	0.49922	0.626;0.348	T	0.35748	-0.9776	10	0.17832	T	0.49	.	6.9853	0.24725	0.2691:0.7309:0.0:0.0	.	401;406	E7ESK3;Q99102	.;MUC4_HUMAN	N	401;401;375	ENSP00000417498:D401N;ENSP00000420243:D401N	ENSP00000376209:D375N	D	-	1	0	MUC4	197001645	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.200000	0.17257	0.670000	0.31165	0.430000	0.28490	GAC	MUC4	-	NULL		0.453	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	C	NM_018406		195517250	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.001	T
MYO3B	140469	genome.wustl.edu	37	2	171262054	171262054	+	Splice_Site	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:171262054G>A	ENST00000408978.4	+	21	2574		c.e21-1		MYO3B_ENST00000409044.3_Splice_Site|MYO3B_ENST00000602629.1_Splice_Site|MYO3B_ENST00000334231.6_Splice_Site	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB						peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AATCCACACAGATAAATTTGA	0.393																																																	0													90.0	83.0	85.0					2																	171262054		1828	4092	5920	SO:0001630	splice_region_variant	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2432-1G>A	2.37:g.171262054G>A			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Splice_Site	SNP	-	e21-1	ENST00000408978.4	37	c.2459-1	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835266	0.91117	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7578	0.96301	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO3B	170970300	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.743000	0.98849	2.748000	0.94277	0.655000	0.94253	.	MYO3B	-	-		0.393	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	G		Intron	171262054	+1	no_errors	ENST00000334231	ensembl	human	known	70_37	splice_site	SNP	1.000	A
MYO7A	4647	genome.wustl.edu	37	11	76868334	76868334	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:76868334G>A	ENST00000409709.3	+	8	1017	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	MYO7A_ENST00000409893.1_Missense_Mutation_p.E249K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E238K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E249K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	249	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCCCTGGATGAAAGGAACTA	0.542																																																	0													59.0	65.0	63.0					11																	76868334		1952	4126	6078	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.745G>A	11.37:g.76868334G>A	ENSP00000386331:p.Glu249Lys		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.E249K	ENST00000409709.3	37	c.745	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	g	19.20	3.781087	0.70222	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.92	4.92	0.64577	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	H	0.98682	4.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.96010	0.9001	10	0.54805	T	0.06	.	17.7223	0.88355	0.0:0.0:1.0:0.0	.	249;249;249	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	249;249;249;238;248;248;248;248	ENSP00000386331:E249K;ENSP00000386689:E249K;ENSP00000392185:E249K;ENSP00000386635:E238K	ENSP00000345075:E248K	E	+	1	0	MYO7A	76545982	1.000000	0.71417	0.919000	0.36401	0.050000	0.14768	9.639000	0.98448	2.265000	0.75225	0.558000	0.71614	GAA	MYO7A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.542	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	G	NM_000260		76868334	+1	no_errors	ENST00000409709	ensembl	human	known	70_37	missense	SNP	1.000	A
NARS2	79731	genome.wustl.edu	37	11	78177032	78177032	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:78177032C>G	ENST00000281038.5	-	11	1429	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q	NARS2_ENST00000528850.1_Missense_Mutation_p.E125Q	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	352					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	AGGTACTTTTCATGTTCAGTC	0.408																																																	0													139.0	134.0	136.0					11																	78177032		2200	4292	6492	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1054G>C	11.37:g.78177032C>G	ENSP00000281038:p.Glu352Gln		G3V178	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb	p.E352Q	ENST00000281038.5	37	c.1054	CCDS8261.1	11	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516928	0.85495	.	.	ENSG00000137513	ENST00000281038;ENST00000528850;ENST00000529880	D;D;D	0.86366	-1.52;-1.52;-2.11	4.59	4.59	0.56863	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.95059	0.8400	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96205	0.9148	10	0.87932	D	0	-16.8839	16.6841	0.85300	0.0:1.0:0.0:0.0	.	352	Q96I59	SYNM_HUMAN	Q	352;125;208	ENSP00000281038:E352Q;ENSP00000432635:E125Q;ENSP00000432240:E208Q	ENSP00000281038:E352Q	E	-	1	0	NARS2	77854680	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.927000	0.75840	2.541000	0.85698	0.591000	0.81541	GAA	NARS2	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb		0.408	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS2	HGNC	protein_coding	OTTHUMT00000391138.2	C	NM_024678		78177032	-1	no_errors	ENST00000281038	ensembl	human	known	70_37	missense	SNP	1.000	G
NAT6	24142	genome.wustl.edu	37	3	50334747	50334747	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:50334747C>T	ENST00000443842.1	-	2	955	c.148G>A	c.(148-150)Gag>Aag	p.E50K	HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000354862.4_Missense_Mutation_p.E72K|NAT6_ENST00000443094.2_Missense_Mutation_p.E50K|NAT6_ENST00000417393.1_Missense_Mutation_p.E50K			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)	50						cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGGTCTCCTCTGGCTGGTGT	0.587																																																	0													39.0	44.0	42.0					3																	50334747		2037	4189	6226	SO:0001583	missense	24142			AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"""N-acetyltransferase 6"""			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939	ENST00000443842.1:c.148G>A	3.37:g.50334747C>T	ENSP00000400559:p.Glu50Lys		Q93014	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.E72K	ENST00000443842.1	37	c.214	CCDS56258.1	3	.	.	.	.	.	.	.	.	.	.	C	12.69	2.015085	0.35511	.	.	ENSG00000243477	ENST00000354862;ENST00000417393;ENST00000443094;ENST00000443842;ENST00000450489;ENST00000442620	.	.	.	5.45	4.34	0.51931	.	.	.	.	.	T	0.22704	0.0548	N	0.08118	0	0.26422	N	0.976088	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.005	T	0.19549	-1.0302	8	0.22109	T	0.4	-34.7252	9.5819	0.39493	0.0:0.8648:0.0:0.1352	.	72;50	Q93015-2;Q93015	.;NAT6_HUMAN	K	72;50;50;50;50;50	.	ENSP00000346927:E72K	E	-	1	0	NAT6	50309751	0.998000	0.40836	0.853000	0.33588	0.559000	0.35586	0.902000	0.28459	0.969000	0.38237	0.563000	0.77884	GAG	NAT6	-	NULL		0.587	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NAT6	HGNC	protein_coding	OTTHUMT00000346681.1	C	NM_012191		50334747	-1	no_errors	ENST00000354862	ensembl	human	known	70_37	missense	SNP	0.946	T
NCAM1	4684	genome.wustl.edu	37	11	113105875	113105875	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:113105875C>T	ENST00000533760.1	+	13	2029	c.1430C>T	c.(1429-1431)aCg>aTg	p.T477M	NCAM1_ENST00000401611.2_Missense_Mutation_p.T604M|NCAM1_ENST00000316851.7_Missense_Mutation_p.T595M|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	605	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.T595M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGTTCAAGACGCAGCCAGTC	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											27.0	32.0	30.0					11																	113105875		2016	4149	6165	SO:0001583	missense	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1430C>T	11.37:g.113105875C>T	ENSP00000473281:p.Thr477Met		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.T595M	ENST00000533760.1	37	c.1784		11	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964939	0.92855	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851;ENST00000433634	T;T	0.64991	0.45;-0.13	5.84	5.84	0.93424	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.81754	0.4889	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82963	-0.0196	9	0.87932	D	0	-21.0644	20.1336	0.98010	0.0:1.0:0.0:0.0	.	605;595;605;595	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	M	477;604;595;39	ENSP00000384055:T604M;ENSP00000318472:T595M	ENSP00000318472:T595M	T	+	2	0	NCAM1	112611085	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	7.629000	0.83207	2.767000	0.95098	0.591000	0.81541	ACG	NCAM1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.617	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	C	NM_000615		113105875	+1	no_errors	ENST00000316851	ensembl	human	known	70_37	missense	SNP	1.000	T
NHLRC3	387921	genome.wustl.edu	37	13	39613751	39613751	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr13:39613751C>T	ENST00000379600.3	+	3	610	c.288C>T	c.(286-288)ttC>ttT	p.F96F	PROSER1_ENST00000350125.3_5'Flank|NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Silent_p.F96F|PROSER1_ENST00000352251.3_5'Flank	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	96						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ATGGATATTTCCTACGAGCCT	0.398																																																	0													77.0	76.0	76.0					13																	39613751		2203	4300	6503	SO:0001819	synonymous_variant	387921				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.288C>T	13.37:g.39613751C>T			B2RTZ2|B4DTL0|Q69YI9	Silent	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.F96	ENST00000379600.3	37	c.288	CCDS31961.1	13																																																																																			NHLRC3	-	NULL		0.398	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2	C	NM_001012754		39613751	+1	no_errors	ENST00000379600	ensembl	human	known	70_37	silent	SNP	0.991	T
NLRP8	126205	genome.wustl.edu	37	19	56490823	56490823	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:56490823C>A	ENST00000291971.3	+	9	3011	c.2940C>A	c.(2938-2940)aaC>aaA	p.N980K	NLRP8_ENST00000590542.1_Missense_Mutation_p.N961K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	980					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCGCAAAAACCAACATCTGA	0.502																																																	0													138.0	131.0	134.0					19																	56490823		2203	4300	6503	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2940C>A	19.37:g.56490823C>A	ENSP00000291971:p.Asn980Lys		Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.N980K	ENST00000291971.3	37	c.2940	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650757	0.29336	.	.	ENSG00000179709	ENST00000291971	T	0.58060	0.36	2.03	0.969	0.19686	.	.	.	.	.	T	0.64125	0.2570	M	0.71581	2.175	0.09310	N	1	D;D	0.63880	0.992;0.993	D;D	0.70016	0.956;0.967	T	0.49661	-0.8916	9	0.46703	T	0.11	.	4.7643	0.13125	0.0:0.8135:0.0:0.1865	.	961;980	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	980	ENSP00000291971:N980K	ENSP00000291971:N980K	N	+	3	2	NLRP8	61182635	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.237000	0.17985	0.426000	0.26116	0.603000	0.83216	AAC	NLRP8	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.502	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	C	NM_176811		56490823	+1	no_errors	ENST00000291971	ensembl	human	known	70_37	missense	SNP	0.001	A
NRXN3	9369	genome.wustl.edu	37	14	78709692	78709692	+	IGR	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr14:78709692C>T								RNA5SP388 (65428 upstream) : RP11-332E19.2 (36222 downstream)																							TGGCCGCGTTCAGCTCCGCTT	0.597																																																	0													12.0	10.0	11.0					14																	78709692		872	1988	2860	SO:0001628	intergenic_variant	9369																															14.37:g.78709692C>T				Nonsense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q86*		37	c.256		14	.	.	.	.	.	.	.	.	.	.	C	46	12.475092	0.99670	.	.	ENSG00000021645	ENST00000330071;ENST00000332068	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	86	.	.	Q	+	1	0	NRXN3	77779445	1.000000	0.71417	0.941000	0.38009	0.870000	0.49936	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CAG	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	0	0.597					NRXN3	HGNC			C			78709692	+1	no_errors	ENST00000554738	ensembl	human	known	70_37	nonsense	SNP	1.000	T
OLFML1	283298	genome.wustl.edu	37	11	7531307	7531307	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:7531307G>A	ENST00000329293.3	+	3	1491	c.1097G>A	c.(1096-1098)aGa>aAa	p.R366K	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.R366K	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	366	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGAGACCAAGAAGTCACTCC	0.498																																																	0													94.0	85.0	88.0					11																	7531307		2201	4296	6497	SO:0001583	missense	283298			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.1097G>A	11.37:g.7531307G>A	ENSP00000332511:p.Arg366Lys		B4DP03|Q569G4	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.R366K	ENST00000329293.3	37	c.1097	CCDS7779.1	11	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263443	0.23051	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.88509	-2.39;-2.39	5.51	3.54	0.40534	Olfactomedin-like (3);	0.234064	0.41823	D	0.000812	D	0.82641	0.5081	N	0.21097	0.63	0.80722	D	1	P;P	0.47545	0.897;0.897	P;P	0.48488	0.498;0.579	T	0.77872	-0.2426	10	0.20519	T	0.43	.	8.965	0.35872	0.0828:0.1494:0.7678:0.0	.	230;366	B4DN61;Q6UWY5	.;OLFL1_HUMAN	K	366	ENSP00000433455:R366K;ENSP00000332511:R366K	ENSP00000332511:R366K	R	+	2	0	OLFML1	7487883	0.080000	0.21391	1.000000	0.80357	0.982000	0.71751	1.902000	0.39848	1.338000	0.45544	-0.244000	0.11960	AGA	OLFML1	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.498	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML1	HGNC	protein_coding	OTTHUMT00000384656.1	G	NM_198474		7531307	+1	no_errors	ENST00000329293	ensembl	human	known	70_37	missense	SNP	0.976	A
OSBPL2	9885	genome.wustl.edu	37	20	60854321	60854321	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:60854321C>T	ENST00000313733.3	+	7	802	c.600C>T	c.(598-600)atC>atT	p.I200I	OSBPL2_ENST00000439951.2_Silent_p.I108I|OSBPL2_ENST00000358053.2_Silent_p.I188I	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	200					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ATGGCTCCATCTACCCCAAGC	0.567																																																	0													120.0	94.0	103.0					20																	60854321		2203	4300	6503	SO:0001819	synonymous_variant	9885			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.600C>T	20.37:g.60854321C>T			A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	pfam_Oxysterol-bd	p.I200	ENST00000313733.3	37	c.600	CCDS13495.1	20																																																																																			OSBPL2	-	pfam_Oxysterol-bd		0.567	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL2	HGNC	protein_coding	OTTHUMT00000080021.1	C	NM_014835		60854321	+1	no_errors	ENST00000313733	ensembl	human	known	70_37	silent	SNP	1.000	T
OTOG	340990	genome.wustl.edu	37	11	17633864	17633864	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:17633864C>T	ENST00000399391.2	+	36	6315	c.6315C>T	c.(6313-6315)ctC>ctT	p.L2105L	OTOG_ENST00000399397.1_Silent_p.L2032L|OTOG_ENST00000342528.2_Silent_p.L1111L	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	2105					adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						GCTGCCCACTCTGGGAGTGTG	0.652																																																	0																																										SO:0001819	synonymous_variant	340990			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.6315C>T	11.37:g.17633864C>T			A8MTX6|A8MUJ0|B7WPC4	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.L2105	ENST00000399391.2	37	c.6315	CCDS59225.1	11																																																																																			OTOG	-	smart_VWF_type-D		0.652	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		C			17633864	+1	no_errors	ENST00000399391	ensembl	human	known	70_37	silent	SNP	0.960	T
PCDHB5	26167	genome.wustl.edu	37	5	140516882	140516882	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:140516882G>A	ENST00000231134.5	+	1	2083	c.1866G>A	c.(1864-1866)gaG>gaA	p.E622E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	622	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATGGCGAGGTGCGCACCG	0.701																																																	0													43.0	45.0	44.0					5																	140516882		2155	4204	6359	SO:0001819	synonymous_variant	26167			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1866G>A	5.37:g.140516882G>A			Q549F4|Q9UFU9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E622	ENST00000231134.5	37	c.1866	CCDS4247.1	5																																																																																			PCDHB5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.701	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	HGNC	protein_coding	OTTHUMT00000251811.1	G	NM_015669		140516882	+1	no_errors	ENST00000231134	ensembl	human	known	70_37	silent	SNP	1.000	A
PCDHGA5	56110	genome.wustl.edu	37	5	140744136	140744136	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:140744136G>A	ENST00000518069.1	+	1	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.602																																																	0													50.0	60.0	57.0					5																	140744136		2194	4298	6492	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.239G>A	5.37:g.140744136G>A	ENSP00000429834:p.Arg80Gln		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R80Q	ENST00000518069.1	37	c.239	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	6.638	0.486140	0.12641	.	.	ENSG00000253485	ENST00000518069	T	0.26810	1.71	5.38	4.5	0.54988	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20577	0.0495	L	0.48642	1.525	0.09310	N	1	B;B	0.33940	0.379;0.433	B;B	0.31751	0.083;0.135	T	0.22208	-1.0223	9	0.48119	T	0.1	.	4.7592	0.13099	0.1796:0.0:0.6384:0.182	.	80;80	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	Q	80	ENSP00000429834:R80Q	ENSP00000429834:R80Q	R	+	2	0	PCDHGA5	140724320	0.000000	0.05858	0.216000	0.23742	0.099000	0.18886	0.461000	0.21940	1.397000	0.46682	0.558000	0.71614	CGA	PCDHGA5	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.602	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	G	NM_018918		140744136	+1	no_errors	ENST00000518069	ensembl	human	known	70_37	missense	SNP	0.102	A
PDHA1	5160	genome.wustl.edu	37	X	19371082	19371082	+	Intron	SNP	G	G	A	rs193108658		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:19371082G>A	ENST00000422285.2	+	5	523				PDHA1_ENST00000540249.1_Intron|PDHA1_ENST00000379806.5_Intron|PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000545074.1_Intron|PDHA1_ENST00000379805.3_Intron			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1						acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GTACTTAGACGACTGAACTGG	0.458													G|||	1	0.000264901	0.0	0.0	3775	,	,		16129	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	5160				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.419-118G>A	X.37:g.19371082G>A			A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	RNA	SNP	-	NULL	ENST00000422285.2	37	NULL	CCDS14192.1	X																																																																																			PDHA1	-	-		0.458	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDHA1	HGNC	protein_coding	OTTHUMT00000055977.1	G			19371082	+1	no_errors	ENST00000479146	ensembl	human	known	70_37	rna	SNP	0.000	A
PHF20	51230	genome.wustl.edu	37	20	34505430	34505430	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:34505430C>G	ENST00000374012.3	+	13	1979	c.1850C>G	c.(1849-1851)tCt>tGt	p.S617C	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	617					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGTGAGTCCTCTTCTGAGAGC	0.403																																																	0													110.0	89.0	96.0					20																	34505430		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1850C>G	20.37:g.34505430C>G	ENSP00000363124:p.Ser617Cys		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2	p.S617C	ENST00000374012.3	37	c.1850	CCDS13268.1	20	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091615	0.55968	.	.	ENSG00000025293	ENST00000374012;ENST00000420233	T	0.37584	1.19	5.97	5.97	0.96955	.	0.047856	0.85682	D	0.000000	T	0.31263	0.0791	L	0.38953	1.18	0.80722	D	1	B	0.28971	0.229	B	0.27608	0.081	T	0.03717	-1.1010	10	0.39692	T	0.17	.	15.492	0.75615	0.0:0.862:0.138:0.0	.	617	Q9BVI0	PHF20_HUMAN	C	617;14	ENSP00000363124:S617C	ENSP00000363124:S617C	S	+	2	0	PHF20	33968844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.185000	0.65076	2.835000	0.97688	0.591000	0.81541	TCT	PHF20	-	NULL		0.403	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	C	NM_016436		34505430	+1	no_errors	ENST00000374012	ensembl	human	known	70_37	missense	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PLA2G6	8398	genome.wustl.edu	37	22	38559436	38559436	+	Intron	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr22:38559436G>C	ENST00000332509.3	-	2	393				PLA2G6_ENST00000402064.1_Intron|PLA2G6_ENST00000417303.2_Intron|PLA2G6_ENST00000435484.1_Intron|PLA2G6_ENST00000447598.2_Intron|PLA2G6_ENST00000335539.3_Intron|PLA2G6_ENST00000436218.1_Intron	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)						cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	cacccacggagagcgtggcac	0.592																																																	0																																										SO:0001627	intron_variant	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.209+5788C>G	22.37:g.38559436G>C			A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	RNA	SNP	-	NULL	ENST00000332509.3	37	NULL	CCDS13967.1	22																																																																																			PLA2G6	-	-		0.592	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	G	NM_001004426		38559436	-1	no_errors	ENST00000445591	ensembl	human	known	70_37	rna	SNP	0.001	C
PLA2G6	8398	genome.wustl.edu	37	22	38559594	38559594	+	Intron	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr22:38559594G>A	ENST00000332509.3	-	2	393				PLA2G6_ENST00000402064.1_Intron|PLA2G6_ENST00000417303.2_Intron|PLA2G6_ENST00000435484.1_Intron|PLA2G6_ENST00000447598.2_Intron|PLA2G6_ENST00000335539.3_Intron|PLA2G6_ENST00000436218.1_Intron	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)						cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	ggggggtgctgaggctctgag	0.597																																																	0																																										SO:0001627	intron_variant	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.209+5630C>T	22.37:g.38559594G>A			A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	RNA	SNP	-	NULL	ENST00000332509.3	37	NULL	CCDS13967.1	22																																																																																			PLA2G6	-	-		0.597	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	G	NM_001004426		38559594	-1	no_errors	ENST00000445591	ensembl	human	known	70_37	rna	SNP	0.003	A
PLD1	5337	genome.wustl.edu	37	3	171377057	171377057	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:171377057A>T	ENST00000351298.4	-	21	2501	c.2375T>A	c.(2374-2376)gTt>gAt	p.V792D	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Missense_Mutation_p.V792D|PLD1_ENST00000356327.5_Missense_Mutation_p.V754D	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	792	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTTGAACACAACTTTGTCATC	0.388																																					NSCLC(149;2174 3517 34058)												0													169.0	169.0	169.0					3																	171377057		2203	4300	6503	SO:0001583	missense	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2375T>A	3.37:g.171377057A>T	ENSP00000342793:p.Val792Asp			Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.V792D	ENST00000351298.4	37	c.2375	CCDS3216.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.57|15.57	2.873570|2.873570	0.51695|0.51695	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000446289|ENST00000356327;ENST00000351298;ENST00000340989	.|T;T;T	.|0.28454	.|1.61;1.61;1.61	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.350601	.|0.28241	.|N	.|0.016069	T|T	0.28400|0.28400	0.0702|0.0702	N|N	0.16201|0.16201	0.385|0.385	0.80722|0.80722	D|D	1|1	.|B;B;B;P	.|0.41188	.|0.048;0.009;0.026;0.741	.|B;B;B;P	.|0.50708	.|0.052;0.022;0.087;0.648	T|T	0.06570|0.06570	-1.0819|-1.0819	5|10	.|0.12430	.|T	.|0.62	-24.6509|-24.6509	14.8791|14.8791	0.70519|0.70519	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|754;792;777;792	.|Q13393-2;Q13393-4;Q59EA4;Q13393	.|.;.;.;PLD1_HUMAN	M|D	55|754;792;792	.|ENSP00000348681:V754D;ENSP00000342793:V792D;ENSP00000340326:V792D	.|ENSP00000340326:V792D	L|V	-|-	1|2	2|0	PLD1|PLD1	172859751|172859751	0.718000|0.718000	0.27976|0.27976	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.860000|1.860000	0.39428|0.39428	2.163000|2.163000	0.67991|0.67991	0.460000|0.460000	0.39030|0.39030	TTG|GTT	PLD1	-	pirsf_PLipase_D_euk		0.388	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	A	NM_002662		171377057	-1	no_errors	ENST00000351298	ensembl	human	known	70_37	missense	SNP	1.000	T
PLXNA3	55558	genome.wustl.edu	37	X	153698913	153698913	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:153698913G>T	ENST00000369682.3	+	30	5290	c.5115G>T	c.(5113-5115)caG>caT	p.Q1705H	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1705					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAGCGCCAGATCAGCGACC	0.632																																																	0													89.0	79.0	82.0					X																	153698913		2203	4299	6502	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5115G>T	X.37:g.153698913G>T	ENSP00000358696:p.Gln1705His		Q5HY36	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.Q1705H	ENST00000369682.3	37	c.5115	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017191	0.75161	.	.	ENSG00000130827	ENST00000369682	T	0.16743	2.32	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	L	0.38838	1.175	0.52501	D	0.999957	D	0.54207	0.965	D	0.68353	0.957	T	0.01930	-1.1245	10	0.72032	D	0.01	.	10.2605	0.43423	0.0948:0.0:0.9052:0.0	.	1705	P51805	PLXA3_HUMAN	H	1705	ENSP00000358696:Q1705H	ENSP00000358696:Q1705H	Q	+	3	2	PLXNA3	153352107	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.918000	0.40006	2.156000	0.67533	0.529000	0.55759	CAG	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153698913	+1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	T
PLXNB1	5364	genome.wustl.edu	37	3	48465618	48465618	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:48465618C>T	ENST00000358536.4	-	3	672	c.403G>A	c.(403-405)Gag>Aag	p.E135K	PLXNB1_ENST00000296440.6_Missense_Mutation_p.E135K|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E135K|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E135K	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	135	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAGGCCGCTCTGGCCGCAGC	0.682																																																	0													10.0	13.0	12.0					3																	48465618		2196	4280	6476	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.403G>A	3.37:g.48465618C>T	ENSP00000351338:p.Glu135Lys		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,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.E135K	ENST00000358536.4	37	c.403	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.075458	0.94000	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	4.14	4.14	0.48551	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.146525	0.44483	D	0.000458	T	0.15782	0.0380	M	0.80183	2.485	0.80722	D	1	P;P	0.51653	0.783;0.947	B;P	0.54499	0.154;0.754	T	0.11567	-1.0582	10	0.23891	T	0.37	.	15.418	0.74987	0.0:1.0:0.0:0.0	.	135;135	O43157;O43157-2	PLXB1_HUMAN;.	K	135	ENSP00000296440:E135K;ENSP00000351242:E135K;ENSP00000351338:E135K;ENSP00000414199:E135K	ENSP00000296440:E135K	E	-	1	0	PLXNB1	48440622	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.006000	0.70724	1.851000	0.53745	0.655000	0.94253	GAG	PLXNB1	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.682	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	C	NM_002673		48465618	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	missense	SNP	1.000	T
PLXNC1	10154	genome.wustl.edu	37	12	94543449	94543449	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:94543449C>T	ENST00000258526.4	+	1	951	c.702C>T	c.(700-702)ttC>ttT	p.F234F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	234	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.F234L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCCTGCACTTCGTGGACGCCT	0.682																																																	1	Substitution - Missense(1)	cervix(1)											31.0	36.0	35.0					12																	94543449		2168	4277	6445	SO:0001819	synonymous_variant	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.702C>T	12.37:g.94543449C>T			Q59H25	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.F234	ENST00000258526.4	37	c.702	CCDS9049.1	12																																																																																			PLXNC1	-	superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.682	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	C			94543449	+1	no_errors	ENST00000258526	ensembl	human	known	70_37	silent	SNP	0.997	T
PMS2P4	5382	genome.wustl.edu	37	7	66760730	66760730	+	RNA	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:66760730C>T	ENST00000414507.1	-	0	329				Y_RNA_ENST00000364695.1_RNA					postmeiotic segregation increased 2 pseudogene 4																		CCATCGTGATCAAACACCAGT	0.522																																																	0																																												5382			D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66760730C>T				RNA	SNP	-	NULL	ENST00000414507.1	37	NULL		7																																																																																			PMS2P4	-	-		0.522	PMS2P4-002	KNOWN	basic	processed_transcript	PMS2P4	HGNC	pseudogene	OTTHUMT00000346632.1	C	NR_022007		66760730	-1	no_errors	ENST00000414507	ensembl	human	known	70_37	rna	SNP	1.000	T
POLR1D	51082	genome.wustl.edu	37	13	28196021	28196021	+	5'UTR	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr13:28196021C>G	ENST00000302979.3	+	0	923				POLR1D_ENST00000399696.1_5'Flank|POLR1D_ENST00000465887.1_3'UTR|POLR1D_ENST00000399697.3_5'UTR|LNX2_ENST00000316334.3_5'Flank	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa						gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CGCCTTCCGTCGGTCGGTCCT	0.741																																																	0																																										SO:0001623	5_prime_UTR_variant	51082			AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000302979.3:c.-100C>G	13.37:g.28196021C>G			Q5TBX2|Q96BR3	RNA	SNP	-	NULL	ENST00000302979.3	37	NULL	CCDS9325.1	13																																																																																			POLR1D	-	-		0.741	POLR1D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POLR1D	HGNC	protein_coding	OTTHUMT00000044305.1	C	NM_015972, NM_152705		28196021	+1	no_errors	ENST00000465887	ensembl	human	known	70_37	rna	SNP	0.000	G
POLR1D	51082	genome.wustl.edu	37	13	28196057	28196057	+	5'UTR	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr13:28196057C>G	ENST00000302979.3	+	0	959				POLR1D_ENST00000399696.1_5'UTR|POLR1D_ENST00000465887.1_3'UTR|POLR1D_ENST00000399697.3_5'UTR|LNX2_ENST00000316334.3_5'Flank	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa						gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CTCCGCGCCTCGCGCTATGGG	0.697																																																	0													14.0	16.0	15.0					13																	28196057		692	1590	2282	SO:0001623	5_prime_UTR_variant	51082			AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000302979.3:c.-64C>G	13.37:g.28196057C>G			Q5TBX2|Q96BR3	RNA	SNP	-	NULL	ENST00000302979.3	37	NULL	CCDS9325.1	13																																																																																			POLR1D	-	-		0.697	POLR1D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POLR1D	HGNC	protein_coding	OTTHUMT00000044305.1	C	NM_015972, NM_152705		28196057	+1	no_errors	ENST00000465887	ensembl	human	known	70_37	rna	SNP	0.000	G
POU4F2	5458	genome.wustl.edu	37	4	147561325	147561325	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:147561325G>A	ENST00000281321.3	+	2	843	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	199					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCTGAGTCCCGGGCTGGCCCT	0.716																																																	0													14.0	16.0	16.0					4																	147561325		2195	4290	6485	SO:0001583	missense	5458			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.595G>A	4.37:g.147561325G>A	ENSP00000281321:p.Gly199Arg		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.G199R	ENST00000281321.3	37	c.595	CCDS34074.1	4	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346940	0.61183	.	.	ENSG00000151615	ENST00000281321	D	0.84298	-1.83	5.63	5.63	0.86233	.	.	.	.	.	D	0.83046	0.5169	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.49752	0.621	T	0.82157	-0.0596	9	0.34782	T	0.22	.	15.908	0.79445	0.0:0.1355:0.8645:0.0	.	199	Q12837	PO4F2_HUMAN	R	199	ENSP00000281321:G199R	ENSP00000281321:G199R	G	+	1	0	POU4F2	147780775	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.707000	0.68370	2.660000	0.90430	0.313000	0.20887	GGG	POU4F2	-	NULL		0.716	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1	G	NM_004575		147561325	+1	no_errors	ENST00000281321	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP1R14A	94274	genome.wustl.edu	37	19	38742017	38742017	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:38742017G>T	ENST00000301242.4	-	4	636	c.385C>A	c.(385-387)Ccc>Acc	p.P129T	PPP1R14A_ENST00000347262.4_Missense_Mutation_p.P102T|PPP1R14A_ENST00000591291.1_Intron|PPP1R14A_ENST00000587515.1_Missense_Mutation_p.P59T	NM_033256.2	NP_150281.1	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14A	129					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCGTGGGAGGGGCTTGGCTGG	0.692																																																	0													14.0	19.0	17.0					19																	38742017		2171	4257	6428	SO:0001583	missense	94274			AB056508	CCDS12509.1, CCDS58660.1	19q13.1	2012-04-17		2001-07-02	ENSG00000167641	ENSG00000167641		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14871	protein-coding gene	gene with protein product	"""17-kDa PKC-potentiated inhibitory protein of PP1"", ""PKC-potentiated inhibitory protein of PP1"", ""17-KDa protein"""	608153		PPP1INL		11467857	Standard	NM_033256		Approved	CPI-17	uc002ohq.3	Q96A00		ENST00000301242.4:c.385C>A	19.37:g.38742017G>T	ENSP00000301242:p.Pro129Thr		Q7Z4X7|Q96S54	Missense_Mutation	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.P129T	ENST00000301242.4	37	c.385	CCDS12509.1	19	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044386	0.36085	.	.	ENSG00000167641	ENST00000347262;ENST00000301242	.	.	.	4.64	4.64	0.57946	.	0.448629	0.23821	N	0.044230	T	0.61073	0.2318	L	0.42245	1.32	0.80722	D	1	P;D	0.57257	0.936;0.979	P;P	0.54759	0.553;0.76	T	0.60806	-0.7190	9	0.41790	T	0.15	-28.8337	13.001	0.58676	0.0:0.0:1.0:0.0	.	102;129	Q96A00-2;Q96A00	.;PP14A_HUMAN	T	102;129	.	ENSP00000301242:P129T	P	-	1	0	PPP1R14A	43433857	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	1.741000	0.38238	2.101000	0.63845	0.462000	0.41574	CCC	PPP1R14A	-	pfam_PP1_inhibitor		0.692	PPP1R14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14A	HGNC	protein_coding	OTTHUMT00000458164.1	G	NM_033256		38742017	-1	no_errors	ENST00000301242	ensembl	human	known	70_37	missense	SNP	1.000	T
PRDM16	63976	genome.wustl.edu	37	1	3102760	3102760	+	Missense_Mutation	SNP	G	G	A	rs369539275		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:3102760G>A	ENST00000270722.5	+	2	158	c.109G>A	c.(109-111)Gag>Aag	p.E37K	PRDM16_ENST00000442529.2_Missense_Mutation_p.E37K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E37K|PRDM16_ENST00000378398.3_Missense_Mutation_p.E37K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E37K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E37K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E37K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	37					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGCGGAGGACGAGGCCGAGGA	0.637			T	EVI1	"""MDS, AML"""																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0								G	LYS/GLU,LYS/GLU	0,4350		0,0,2175	47.0	62.0	57.0		109,109	4.2	1.0	1		57	1,8503		0,1,4251	no	missense,missense	PRDM16	NM_022114.3,NM_199454.2	56,56	0,1,6426	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging	37/1277,37/1258	3102760	1,12853	2175	4252	6427	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.109G>A	1.37:g.3102760G>A	ENSP00000270722:p.Glu37Lys		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E37K	ENST00000270722.5	37	c.109	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292309	0.59976	0.0	1.18E-4	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.1	4.16	0.48862	.	0.000000	0.44902	U	0.000419	T	0.42200	0.1192	L	0.44542	1.39	0.42919	D	0.994289	D;D;D;D	0.71674	0.985;0.991;0.998;0.985	B;P;P;B	0.56751	0.265;0.452;0.805;0.265	T	0.40421	-0.9564	10	0.66056	D	0.02	.	15.2018	0.73142	0.0:0.1417:0.8583:0.0	.	37;37;37;37	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	K	37	ENSP00000426975:E37K;ENSP00000367651:E37K;ENSP00000407968:E37K;ENSP00000405253:E37K;ENSP00000367643:E37K;ENSP00000421400:E37K;ENSP00000270722:E37K	ENSP00000270722:E37K	E	+	1	0	PRDM16	3092620	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	6.875000	0.75551	1.084000	0.41184	0.561000	0.74099	GAG	PRDM16	-	NULL		0.637	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3102760	+1	no_errors	ENST00000270722	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF512B	57473	genome.wustl.edu	37	20	62632587	62632587	+	Intron	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr20:62632587G>A	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.R394Q			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGGGTTCTTCGGAAAGGTGAG	0.577																																																	0													85.0	74.0	77.0					20																	62632587		2203	4300	6503	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-33279C>T	20.37:g.62632587G>A			Q08AK9|Q9ULM4	Missense_Mutation	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.R394Q	ENST00000450537.1	37	c.1181	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402767	0.83230	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.32988	1.43;1.43	5.52	4.56	0.56223	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.85945	2.785	0.80722	D	1	P;P	0.52061	0.95;0.681	B;B	0.42771	0.397;0.223	T	0.54016	-0.8356	10	0.54805	T	0.06	-27.068	14.7367	0.69422	0.0709:0.0:0.9291:0.0	.	394;394	O94906-2;O94906	.;PRP6_HUMAN	Q	394	ENSP00000266079:R394Q;ENSP00000446216:R394Q	ENSP00000266079:R394Q	R	+	2	0	PRPF6	62103031	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	7.505000	0.81655	2.598000	0.87819	0.655000	0.94253	CGG	PRPF6	-	smart_HAT		0.577	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	G	NM_020713		62632587	+1	no_errors	ENST00000266079	ensembl	human	known	70_37	missense	SNP	1.000	A
PRUNE2	158471	genome.wustl.edu	37	9	79320705	79320705	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr9:79320705G>C	ENST00000376718.3	-	8	6608	c.6485C>G	c.(6484-6486)tCt>tGt	p.S2162C	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S1803C	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2162					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGCGTTTTCAGAATCGAGTTC	0.483																																																	0													127.0	115.0	119.0					9																	79320705		1568	3582	5150	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6485C>G	9.37:g.79320705G>C	ENSP00000365908:p.Ser2162Cys		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S1803C	ENST00000376718.3	37	c.5408	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.70|15.70	2.910274|2.910274	0.52439|0.52439	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.58506	.|0.33;0.35	5.77|5.77	2.94|2.94	0.34122|0.34122	.|.	.|0.583037	.|0.16731	.|N	.|0.201858	T|T	0.65626|0.65626	0.2709|0.2709	M|M	0.64997|0.64997	1.995|1.995	0.41576|0.41576	D|D	0.988719|0.988719	.|D	.|0.71674	.|0.998	.|P	.|0.57371	.|0.819	T|T	0.66610|0.66610	-0.5880|-0.5880	5|10	.|0.87932	.|D	.|0	-0.374|-0.374	9.2024|9.2024	0.37268|0.37268	0.2231:0.0:0.7769:0.0|0.2231:0.0:0.7769:0.0	.|.	.|2162	.|Q8WUY3	.|PRUN2_HUMAN	L|C	1483|2162;1803;2161	.|ENSP00000365908:S2162C;ENSP00000397425:S1803C	.|ENSP00000365908:S2162C	F|S	-|-	3|2	2|0	PRUNE2|PRUNE2	78510525|78510525	0.850000|0.850000	0.29656|0.29656	0.010000|0.010000	0.14722|0.14722	0.004000|0.004000	0.04260|0.04260	1.075000|1.075000	0.30716|0.30716	0.782000|0.782000	0.33613|0.33613	0.655000|0.655000	0.94253|0.94253	TTC|TCT	PRUNE2	-	NULL		0.483	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	G	NM_138818		79320705	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	missense	SNP	0.590	C
PTCD1	26024	genome.wustl.edu	37	7	99032588	99032588	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:99032588G>C	ENST00000292478.4	-	2	528	c.278C>G	c.(277-279)tCt>tGt	p.S93C	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.S142C|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.S142C	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	93					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GTATTTGTCAGAGAGGGTCCC	0.587																																																	0													103.0	110.0	108.0					7																	99032588		2203	4300	6503	SO:0001583	missense	26024			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.278C>G	7.37:g.99032588G>C	ENSP00000292478:p.Ser93Cys		Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.S142C	ENST00000292478.4	37	c.425	CCDS34691.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240286	0.79912	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000413834	T;T;D;D;D;T	0.90563	-0.6;-0.55;-2.65;-2.69;-2.6;-0.55	5.97	5.97	0.96955	.	0.052685	0.85682	D	0.000000	D	0.95554	0.8555	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.968	D	0.94782	0.7954	10	0.54805	T	0.06	-21.33	20.428	0.99075	0.0:0.0:1.0:0.0	.	142;93	G3V325;O75127	.;PTCD1_HUMAN	C	93;142;93;93;93;142	ENSP00000292478:S93C;ENSP00000450995:S142C;ENSP00000390530:S93C;ENSP00000408059:S93C;ENSP00000401600:S93C;ENSP00000400168:S142C	ENSP00000400168:S142C	S	-	2	0	ATP5J2-PTCD1;PTCD1	98870524	1.000000	0.71417	0.813000	0.32504	0.328000	0.28507	9.078000	0.94023	2.837000	0.97791	0.655000	0.94253	TCT	PTCD1	-	NULL		0.587	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	G	NM_015545		99032588	-1	no_errors	ENST00000555673	ensembl	human	known	70_37	missense	SNP	0.998	C
PTPRD	5789	genome.wustl.edu	37	9	8319890	8319890	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr9:8319890C>G	ENST00000381196.4	-	42	6154	c.5611G>C	c.(5611-5613)Gat>Cat	p.D1871H	PTPRD_ENST00000356435.5_Missense_Mutation_p.D1871H|PTPRD_ENST00000397606.3_Missense_Mutation_p.D1464H|PTPRD_ENST00000537002.1_Missense_Mutation_p.D1461H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1849H|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1858H|PTPRD_ENST00000355233.5_Missense_Mutation_p.D1465H|PTPRD_ENST00000486161.1_Missense_Mutation_p.D1464H|PTPRD_ENST00000397617.3_Missense_Mutation_p.D1464H|PTPRD_ENST00000397611.3_Missense_Mutation_p.D1461H|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1871H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1871	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGAAGATATCTACAACTCCT	0.428										TSP Lung(15;0.13)																																							0													187.0	179.0	181.0					9																	8319890		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5611G>C	9.37:g.8319890C>G	ENSP00000370593:p.Asp1871His		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.D1871H	ENST00000381196.4	37	c.5611	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.108430	0.94292	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.98	5.98	0.97165	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	H	0.97240	3.965	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.74948	-0.3490	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	1464;1455;1464;1465;1461;1461;1858;1871;1871	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1871;1871;1858;1849;1465;1464;1461;1461;1342;1871;1464;1464	ENSP00000370593:D1871H;ENSP00000348812:D1871H;ENSP00000353187:D1858H;ENSP00000351293:D1849H;ENSP00000347373:D1465H;ENSP00000380741:D1464H;ENSP00000380735:D1461H;ENSP00000440515:D1461H;ENSP00000438164:D1871H;ENSP00000417093:D1464H;ENSP00000380731:D1464H	.	D	-	1	0	PTPRD	8309890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	GAT	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.428	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8319890	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	G
RAD52	5893	genome.wustl.edu	37	12	1022548	1022548	+	3'UTR	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:1022548G>C	ENST00000358495.3	-	0	1404				RAD52_ENST00000539046.1_3'UTR|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_3'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)						DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TATGTGGCCTGAGCCTCAGTT	0.408								Homologous recombination																																									0													216.0	209.0	211.0					12																	1022548		1879	4113	5992	SO:0001624	3_prime_UTR_variant	5893				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.*9C>G	12.37:g.1022548G>C			Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	RNA	SNP	-	NULL	ENST00000358495.3	37	NULL	CCDS8507.2	12																																																																																			RAD52	-	-		0.408	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD52	HGNC	protein_coding	OTTHUMT00000206733.2	G	NM_134424		1022548	-1	no_errors	ENST00000535376	ensembl	human	known	70_37	rna	SNP	0.000	C
RANBP9	10048	genome.wustl.edu	37	6	13644799	13644799	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:13644799C>G	ENST00000011619.3	-	6	1148	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	RANBP9_ENST00000539980.1_Missense_Mutation_p.E135Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	364					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GTCTGCCATTCTCCTTCTCGA	0.378																																																	0													142.0	136.0	138.0					6																	13644799		2203	4300	6503	SO:0001583	missense	10048			AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1090G>C	6.37:g.13644799C>G	ENSP00000011619:p.Glu364Gln		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.E364Q	ENST00000011619.3	37	c.1090	CCDS4529.1	6	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315753	0.60524	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T	0.79247	-1.25	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	L	0.51422	1.61	0.58432	D	0.999999	D	0.67145	0.996	P	0.60012	0.867	T	0.79605	-0.1734	10	0.44086	T	0.13	-22.041	19.037	0.92983	0.0:1.0:0.0:0.0	.	364	Q96S59	RANB9_HUMAN	Q	364;135	ENSP00000011619:E364Q	ENSP00000011619:E364Q	E	-	1	0	RANBP9	13752778	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	6.050000	0.71063	2.557000	0.86248	0.557000	0.71058	GAA	RANBP9	-	NULL		0.378	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP9	HGNC	protein_coding	OTTHUMT00000042373.1	C			13644799	-1	no_errors	ENST00000011619	ensembl	human	known	70_37	missense	SNP	1.000	G
RBP3	5949	genome.wustl.edu	37	10	48388541	48388541	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:48388541C>T	ENST00000224600.4	-	1	2450	c.2337G>A	c.(2335-2337)gtG>gtA	p.V779V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	779	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCAGGTCGATCACCAGCGCAG	0.617																																																	0													32.0	29.0	30.0					10																	48388541		2201	4300	6501	SO:0001819	synonymous_variant	5949			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2337G>A	10.37:g.48388541C>T			Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.V779	ENST00000224600.4	37	c.2337	CCDS7218.1	10																																																																																			RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd		0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	C	NM_002900		48388541	-1	no_errors	ENST00000224600	ensembl	human	known	70_37	silent	SNP	0.000	T
RIF1	55183	genome.wustl.edu	37	2	152321064	152321064	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:152321064G>C	ENST00000243326.5	+	29	5513	c.5030G>C	c.(5029-5031)aGa>aCa	p.R1677T	RIF1_ENST00000453091.2_Missense_Mutation_p.R1677T|RIF1_ENST00000444746.2_Missense_Mutation_p.R1677T|RIF1_ENST00000430328.2_Missense_Mutation_p.R1677T|RIF1_ENST00000428287.2_Missense_Mutation_p.R1677T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTAAGGACTAGAAATGCCATT	0.338																																																	0													47.0	49.0	48.0					2																	152321064		2202	4299	6501	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5030G>C	2.37:g.152321064G>C	ENSP00000243326:p.Arg1677Thr		A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.R1677T	ENST00000243326.5	37	c.5030	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198440	0.58126	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	5.51	5.51	0.81932	.	0.414776	0.28748	N	0.014277	T	0.17109	0.0411	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.63703	0.829;0.917	T	0.06127	-1.0844	10	0.16420	T	0.52	-19.9726	9.1023	0.36676	0.0781:0.149:0.7729:0.0	.	1677;1677	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	T	1677	ENSP00000390181:R1677T;ENSP00000414615:R1677T;ENSP00000415691:R1677T;ENSP00000243326:R1677T;ENSP00000416123:R1677T	ENSP00000243326:R1677T	R	+	2	0	RIF1	152029310	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.988000	0.40697	2.581000	0.87130	0.557000	0.71058	AGA	RIF1	-	NULL		0.338	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	G			152321064	+1	no_errors	ENST00000243326	ensembl	human	known	70_37	missense	SNP	1.000	C
RIMS1	22999	genome.wustl.edu	37	6	72926938	72926938	+	Intron	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:72926938C>G	ENST00000521978.1	+	7	1678				RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.S16*|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000401910.3_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACATTGCACTCAGGAACAGGT	0.303																																																	0													140.0	110.0	119.0					6																	72926938		692	1591	2283	SO:0001627	intron_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1679-16538C>G	6.37:g.72926938C>G			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S16*	ENST00000521978.1	37	c.47	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	38	6.776873	0.97829	.	.	ENSG00000079841	ENST00000517827	.	.	.	6.17	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4602	0.75349	0.0:0.934:0.0:0.066	.	.	.	.	X	16	.	ENSP00000428367:S16X	S	+	2	0	RIMS1	72983659	1.000000	0.71417	0.039000	0.18376	0.195000	0.23768	3.760000	0.55235	1.616000	0.50265	0.655000	0.94253	TCA	RIMS1	-	NULL		0.303	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	C			72926938	+1	no_errors	ENST00000517827	ensembl	human	putative	70_37	nonsense	SNP	0.995	G
RIPK2	8767	genome.wustl.edu	37	8	90792331	90792331	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr8:90792331G>A	ENST00000220751.4	+	7	1196	c.882G>A	c.(880-882)ttG>ttA	p.L294L	RIPK2_ENST00000540020.1_Silent_p.L157L	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AACCAGTTTTGAGAACATTTG	0.279																																																	0													37.0	37.0	37.0					8																	90792331		2186	4280	6466	SO:0001819	synonymous_variant	8767			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.882G>A	8.37:g.90792331G>A			B7Z748|Q6UWF0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_CARD,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L294	ENST00000220751.4	37	c.882	CCDS6247.1	8																																																																																			RIPK2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_Prot_kinase_cat_dom		0.279	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK2	HGNC	protein_coding	OTTHUMT00000375686.1	G			90792331	+1	no_errors	ENST00000220751	ensembl	human	known	70_37	silent	SNP	0.998	A
RMI1	80010	genome.wustl.edu	37	9	86617223	86617223	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr9:86617223A>G	ENST00000325875.3	+	3	1654	c.1322A>G	c.(1321-1323)aAa>aGa	p.K441R		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	441					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ttaaataataaaatattaaat	0.284																																																	0													23.0	26.0	25.0					9																	86617223		2074	4243	6317	SO:0001583	missense	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1322A>G	9.37:g.86617223A>G	ENSP00000317039:p.Lys441Arg		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	pfam_DUF1767	p.K441R	ENST00000325875.3	37	c.1322	CCDS6669.1	9	.	.	.	.	.	.	.	.	.	.	A	0.129	-1.115639	0.01799	.	.	ENSG00000178966	ENST00000325875	T	0.33216	1.42	5.42	4.29	0.51040	.	0.859993	0.10251	N	0.697193	T	0.22975	0.0555	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25847	-1.0120	9	.	.	.	-7.1262	6.3734	0.21493	0.7688:0.0:0.2312:0.0	.	441	Q9H9A7	RMI1_HUMAN	R	441	ENSP00000317039:K441R	.	K	+	2	0	RMI1	85807043	0.418000	0.25440	0.015000	0.15790	0.011000	0.07611	1.134000	0.31442	1.001000	0.39076	0.533000	0.62120	AAA	RMI1	-	NULL		0.284	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	A	NM_024945		86617223	+1	no_errors	ENST00000325875	ensembl	human	known	70_37	missense	SNP	0.019	G
ROBO3	64221	genome.wustl.edu	37	11	124739926	124739926	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:124739926G>A	ENST00000397801.1	+	4	920	c.728G>A	c.(727-729)gGa>gAa	p.G243E	ROBO3_ENST00000538940.1_Missense_Mutation_p.G221E	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	243	Ig-like C2-type 2.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AACATGGCGGGAGAACGGGAG	0.527																																																	0													76.0	95.0	89.0					11																	124739926		2057	4204	6261	SO:0001583	missense	64221			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.728G>A	11.37:g.124739926G>A	ENSP00000380903:p.Gly243Glu			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G243E	ENST00000397801.1	37	c.728	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515823	0.85495	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.73152	-0.72;-0.72	4.72	4.72	0.59763	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32769	U	0.005667	D	0.88629	0.6488	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91990	0.5602	10	0.72032	D	0.01	.	17.6327	0.88113	0.0:0.0:1.0:0.0	.	243	Q96MS0	ROBO3_HUMAN	E	243;221	ENSP00000380903:G243E;ENSP00000441797:G221E	ENSP00000380903:G243E	G	+	2	0	ROBO3	124245136	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	9.692000	0.98682	2.340000	0.79590	0.462000	0.41574	GGA	ROBO3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.527	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	G	XM_370663		124739926	+1	no_errors	ENST00000397801	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC23	10233	genome.wustl.edu	37	12	6993274	6993274	+	Intron	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:6993274C>T	ENST00000433346.1	+	2	429				LRRC23_ENST00000449039.1_Intron|RPL13P5_ENST00000412023.1_RNA|DSTNP2_ENST00000602547.1_RNA|SPSB2_ENST00000437851.1_Intron			Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23											NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GCAAGGTGGCCAGCAAAAGCA	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	283345			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000433346.1:c.-50+191C>T	12.37:g.6993274C>T			A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	RNA	SNP	-	NULL	ENST00000433346.1	37	NULL		12																																																																																			RPL13P5	-	-		0.592	LRRC23-011	PUTATIVE	basic	protein_coding	RPL13P5	HGNC	protein_coding	OTTHUMT00000345224.1	C	NM_006992		6993274	+1	no_errors	ENST00000412023	ensembl	human	known	70_37	rna	SNP	0.005	T
RPL4	6124	genome.wustl.edu	37	15	66793822	66793822	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:66793822C>G	ENST00000307961.6	-	6	659	c.567G>C	c.(565-567)atG>atC	p.M189I	SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD16_ENST00000362803.1_RNA|RPL4_ENST00000568588.1_Missense_Mutation_p.M95I|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	189					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)|RNA metabolic process (GO:0016070)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TGCCAGCTCTCATTCGCTGAG	0.423																																																	0													66.0	67.0	66.0					15																	66793822		2201	4299	6500	SO:0001583	missense	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.567G>C	15.37:g.66793822C>G	ENSP00000311430:p.Met189Ile		A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom	p.M189I	ENST00000307961.6	37	c.567	CCDS10218.1	15	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745308	0.30955	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.39	4.48	0.54585	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	N	0.01146	-0.985	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.13407	0.002;0.009	T	0.27054	-1.0085	9	0.02654	T	1	-19.3891	13.8434	0.63453	0.0:0.9269:0.0:0.0731	.	189;189	B4DFI6;P36578	.;RL4_HUMAN	I	189	.	ENSP00000311430:M189I	M	-	3	0	RPL4	64580876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.828000	0.69307	1.271000	0.44313	0.655000	0.94253	ATG	RPL4	-	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom		0.423	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL4	HGNC	protein_coding	OTTHUMT00000256903.2	C	NM_000968		66793822	-1	no_errors	ENST00000307961	ensembl	human	known	70_37	missense	SNP	1.000	G
RPS4X	6191	genome.wustl.edu	37	X	71495421	71495421	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:71495421C>T	ENST00000316084.6	-	3	339	c.235G>A	c.(235-237)Gat>Aat	p.D79N	RPS4X_ENST00000373626.3_Missense_Mutation_p.D79N|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	79	S4 RNA-binding.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|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)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TAGGTTATATCAGTTCGGACC	0.418																																																	0													86.0	77.0	80.0					X																	71495421		2202	4300	6502	SO:0001583	missense	6191				CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.235G>A	X.37:g.71495421C>T	ENSP00000362744:p.Asp79Asn		P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd	p.D79N	ENST00000316084.6	37	c.235	CCDS14418.1	X	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986418	0.93044	.	.	ENSG00000198034	ENST00000316084;ENST00000373626	.	.	.	4.89	4.89	0.63831	RNA-binding S4 (3);	0.000000	0.64402	D	0.000001	T	0.61426	0.2346	M	0.75615	2.305	0.80722	D	1	P;B	0.48694	0.914;0.203	B;B	0.43445	0.42;0.176	T	0.69423	-0.5149	9	0.66056	D	0.02	.	14.7275	0.69354	0.0:1.0:0.0:0.0	.	79;79	B7Z1M6;P62701	.;RS4X_HUMAN	N	79	.	ENSP00000362744:D79N	D	-	1	0	RPS4X	71412146	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	7.443000	0.80521	2.147000	0.66899	0.600000	0.82982	GAT	RPS4X	-	pfam_S4_RNA-bd,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd		0.418	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS4X	HGNC	protein_coding	OTTHUMT00000057188.1	C	NM_001007		71495421	-1	no_errors	ENST00000316084	ensembl	human	known	70_37	missense	SNP	1.000	T
RUNX2	860	genome.wustl.edu	37	6	45399640	45399640	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:45399640C>T	ENST00000371438.1	+	3	822	c.464C>T	c.(463-465)aCt>aTt	p.T155I	RUNX2_ENST00000371436.6_Missense_Mutation_p.T155I|RUNX2_ENST00000352853.5_Missense_Mutation_p.T223I|RUNX2_ENST00000371432.3_Missense_Mutation_p.T141I|RUNX2_ENST00000541979.1_Missense_Mutation_p.T223I|RUNX2_ENST00000576263.1_Missense_Mutation_p.T155I|RUNX2_ENST00000465038.2_Missense_Mutation_p.T155I|RUNX2_ENST00000359524.5_Missense_Mutation_p.T141I	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	155	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACTGTGGTTACTGTCATGGCG	0.453																																																	0													193.0	184.0	187.0					6																	45399640		2203	4300	6503	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.464C>T	6.37:g.45399640C>T	ENSP00000360493:p.Thr155Ile		O14614|O14615|O95181	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.T223I	ENST00000371438.1	37	c.668	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069506	0.76301	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.99563	-6.17;-6.17;-6.17;-6.17;-6.17;-6.17;-6.17	4.96	4.96	0.65561	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99521	0.9829	M	0.67569	2.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.988	D;D;D	0.97110	0.996;1.0;0.93	D	0.98640	1.0675	10	0.62326	D	0.03	-6.9173	18.5833	0.91180	0.0:1.0:0.0:0.0	.	223;155;141	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	I	155;223;223;155;155;141;141	ENSP00000420707:T155I;ENSP00000319087:T223I;ENSP00000446290:T223I;ENSP00000360493:T155I;ENSP00000360491:T155I;ENSP00000352514:T141I;ENSP00000360486:T141I	ENSP00000319087:T223I	T	+	2	0	RUNX2	45507618	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.411000	0.80078	2.450000	0.82876	0.650000	0.86243	ACT	RUNX2	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt		0.453	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	C	NM_004348		45399640	+1	no_errors	ENST00000352853	ensembl	human	known	70_37	missense	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	34080589	34080589	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:34080589G>A	ENST00000389232.4	+	67	9830	c.9760G>A	c.(9760-9762)Gag>Aag	p.E3254K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3254K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3254					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCCTGGACGAGTTCGCGGT	0.562																																																	0													77.0	84.0	82.0					15																	34080589		2034	4197	6231	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9760G>A	15.37:g.34080589G>A	ENSP00000373884:p.Glu3254Lys		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E3254K	ENST00000389232.4	37	c.9760	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442048	0.83993	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.67698	-0.28;-0.28	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.66939	2.045	0.80722	D	1	D;P	0.89917	1.0;0.614	D;B	0.66497	0.944;0.115	T	0.80968	-0.1145	10	0.52906	T	0.07	.	17.529	0.87808	0.0:0.0:1.0:0.0	.	3254;3254	Q15413-2;Q15413	.;RYR3_HUMAN	K	3254	ENSP00000373884:E3254K;ENSP00000399610:E3254K	ENSP00000354735:E3254K	E	+	1	0	RYR3	31867881	1.000000	0.71417	0.993000	0.49108	0.335000	0.28730	9.601000	0.98297	2.447000	0.82792	0.655000	0.94253	GAG	RYR3	-	superfamily_ARM-type_fold		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G			34080589	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	A
SESN2	83667	genome.wustl.edu	37	1	28595719	28595719	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:28595719G>A	ENST00000253063.3	+	2	437	c.116G>A	c.(115-117)cGa>cAa	p.R39Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	39					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGCTCGGCGAGGCCCTCGA	0.557																																																	0													56.0	61.0	59.0					1																	28595719		2203	4300	6503	SO:0001583	missense	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.116G>A	1.37:g.28595719G>A	ENSP00000253063:p.Arg39Gln		Q5T7D0|Q96SI5	Missense_Mutation	SNP	pfam_PA26	p.R39Q	ENST00000253063.3	37	c.116	CCDS321.1	1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902465	0.52227	.	.	ENSG00000130766	ENST00000253063	T	0.17691	2.26	5.38	3.47	0.39725	.	0.458431	0.22416	N	0.060354	T	0.08044	0.0201	N	0.08118	0	0.30334	N	0.786337	B	0.02656	0.0	B	0.01281	0.0	T	0.15178	-1.0446	10	0.25751	T	0.34	-2.0243	8.7969	0.34885	0.2331:0.0:0.7669:0.0	.	39	P58004	SESN2_HUMAN	Q	39	ENSP00000253063:R39Q	ENSP00000253063:R39Q	R	+	2	0	SESN2	28468306	0.528000	0.26314	0.971000	0.41717	0.881000	0.50899	1.447000	0.35101	1.253000	0.44018	0.655000	0.94253	CGA	SESN2	-	NULL		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	G			28595719	+1	no_errors	ENST00000253063	ensembl	human	known	70_37	missense	SNP	0.893	A
SLC22A24	283238	genome.wustl.edu	37	11	62871743	62871743	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:62871743C>T	ENST00000417740.1	-	5	1299	c.858G>A	c.(856-858)ctG>ctA	p.L286L		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						TGTTGATAATCAGCCACCGAG	0.388																																																	0													224.0	188.0	199.0					11																	62871743		692	1591	2283	SO:0001819	synonymous_variant	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.858G>A	11.37:g.62871743C>T				Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L286	ENST00000417740.1	37	c.858		11																																																																																			SLC22A24	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.388	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	C	NM_173586		62871743	-1	no_errors	ENST00000417740	ensembl	human	putative	70_37	silent	SNP	0.913	T
SLC38A11	151258	genome.wustl.edu	37	2	165772440	165772440	+	Missense_Mutation	SNP	T	T	C	rs368927720		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:165772440T>C	ENST00000409149.3	-	7	784	c.493A>G	c.(493-495)Att>Gtt	p.I165V	SLC38A11_ENST00000409058.1_Missense_Mutation_p.I196V|SLC38A11_ENST00000409662.1_Missense_Mutation_p.I165V|SLC38A11_ENST00000493887.1_5'UTR|SLC38A11_ENST00000303735.4_Missense_Mutation_p.I143V	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	165					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ACCGCTTGAATGGCATTGGGC	0.373																																																	0								T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	207.0	224.0	218.0		427,493	3.6	1.0	2		218	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC38A11	NM_173512.2,NM_001199148.1	29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	143/385,165/407	165772440	1,13005	2203	4300	6503	SO:0001583	missense	151258				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.493A>G	2.37:g.165772440T>C	ENSP00000386272:p.Ile165Val		B4DF99|Q8N887	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.I165V	ENST00000409149.3	37	c.493	CCDS56142.1	2	.	.	.	.	.	.	.	.	.	.	T	9.027	0.986216	0.18889	0.0	1.16E-4	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662;ENST00000424914	T;T;T;T	0.02236	4.38;4.38;4.38;4.38	5.92	3.59	0.41128	.	0.187450	0.56097	N	0.000032	T	0.01222	0.0040	N	0.11201	0.11	0.45580	D	0.998527	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.003	T	0.42068	-0.9473	10	0.02654	T	1	-19.9368	8.1602	0.31194	0.0:0.2486:0.0:0.7514	.	165;143	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	V	143;165;196;165;40	ENSP00000306178:I143V;ENSP00000386272:I165V;ENSP00000387345:I196V;ENSP00000386774:I165V	ENSP00000306178:I143V	I	-	1	0	SLC38A11	165480686	0.993000	0.37304	0.986000	0.45419	0.985000	0.73830	1.453000	0.35167	1.071000	0.40834	0.533000	0.62120	ATT	SLC38A11	-	pfam_AA_transpt_TM		0.373	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A11	HGNC	protein_coding	OTTHUMT00000333390.1	T	NM_173512		165772440	-1	no_errors	ENST00000409149	ensembl	human	known	70_37	missense	SNP	0.799	C
SLC7A10	56301	genome.wustl.edu	37	19	33706703	33706703	+	Missense_Mutation	SNP	C	C	T	rs551036567		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:33706703C>T	ENST00000253188.4	-	2	474	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	CTD-2540B15.6_ENST00000590492.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	110					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ATCTCTGTGACGTAGGCGTAG	0.657																																																	0													37.0	32.0	34.0					19																	33706703		2178	4281	6459	SO:0001583	missense	56301			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.328G>A	19.37:g.33706703C>T	ENSP00000253188:p.Val110Ile		B2RE84	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.V110I	ENST00000253188.4	37	c.328	CCDS12431.1	19	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965812	0.34659	.	.	ENSG00000130876	ENST00000253188	D	0.90069	-2.61	4.79	4.79	0.61399	Amino acid permease domain (1);	0.062472	0.64402	D	0.000005	T	0.81791	0.4897	N	0.16233	0.39	0.80722	D	1	P	0.49696	0.927	P	0.46796	0.527	T	0.80195	-0.1483	10	0.02654	T	1	.	16.8665	0.86030	0.0:1.0:0.0:0.0	.	110	Q9NS82	AAA1_HUMAN	I	110	ENSP00000253188:V110I	ENSP00000253188:V110I	V	-	1	0	SLC7A10	38398543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.089000	0.71384	2.240000	0.73641	0.456000	0.33151	GTC	SLC7A10	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.657	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A10	HGNC	protein_coding	OTTHUMT00000450846.2	C	NM_019849		33706703	-1	no_errors	ENST00000253188	ensembl	human	known	70_37	missense	SNP	1.000	T
SLFNL1	200172	genome.wustl.edu	37	1	41481881	41481881	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:41481881C>T	ENST00000359345.1	-	4	3697	c.1121G>A	c.(1120-1122)gGc>gAc	p.G374D	SLFNL1_ENST00000372613.2_Missense_Mutation_p.G326D|SLFNL1_ENST00000372611.1_Missense_Mutation_p.G315D|SLFNL1_ENST00000439569.2_Missense_Mutation_p.G374D|SLFNL1_ENST00000397197.2_Missense_Mutation_p.G326D|SLFNL1_ENST00000302946.8_Missense_Mutation_p.G374D	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	374							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TTCCAGCTTGCCCAGCTCCAC	0.632																																																	0													87.0	81.0	83.0					1																	41481881		2203	4300	6503	SO:0001583	missense	200172			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.1121G>A	1.37:g.41481881C>T	ENSP00000352299:p.Gly374Asp		A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.G374D	ENST00000359345.1	37	c.1121	CCDS460.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489964	0.44249	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.21734	1.99;2.01;2.01;1.99;1.99;2.01	5.25	3.07	0.35406	.	1.098180	0.06986	N	0.820831	T	0.12178	0.0296	N	0.08118	0	0.28820	N	0.897738	B;P;P	0.46142	0.037;0.873;0.845	B;P;B	0.44990	0.018;0.466;0.348	T	0.10730	-1.0617	10	0.22109	T	0.4	-10.0212	4.0362	0.09730	0.0:0.5996:0.2501:0.1504	.	326;315;374	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	D	374;326;315;374;374;326	ENSP00000304401:G374D;ENSP00000361696:G326D;ENSP00000361694:G315D;ENSP00000352299:G374D;ENSP00000398938:G374D;ENSP00000380381:G326D	ENSP00000304401:G374D	G	-	2	0	SLFNL1	41254468	0.170000	0.23016	0.998000	0.56505	0.981000	0.71138	0.329000	0.19698	1.178000	0.42870	0.561000	0.74099	GGC	SLFNL1	-	NULL		0.632	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFNL1	HGNC	protein_coding	OTTHUMT00000015650.1	C	NM_144990		41481881	-1	no_errors	ENST00000302946	ensembl	human	known	70_37	missense	SNP	0.979	T
SMARCA5	8467	genome.wustl.edu	37	4	144469252	144469252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:144469252C>T	ENST00000283131.3	+	22	3406	c.2944C>T	c.(2944-2946)Cag>Tag	p.Q982*		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	982	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CAACTCTCCTCAGTTCAGATT	0.383																																																	0													85.0	81.0	83.0					4																	144469252		2203	4300	6503	SO:0001587	stop_gained	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2944C>T	4.37:g.144469252C>T	ENSP00000283131:p.Gln982*			Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q982*	ENST00000283131.3	37	c.2944	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	C	45	11.773763	0.99601	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	.	.	.	5.93	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-2.8214	16.9722	0.86303	0.0:0.8723:0.1277:0.0	.	.	.	.	X	982;925;925	.	ENSP00000283131:Q982X	Q	+	1	0	SMARCA5	144688702	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.075000	0.71261	1.470000	0.48102	0.655000	0.94253	CAG	SMARCA5	-	pfam_SLIDE,superfamily_Homeodomain-like,smart_SANT/Myb		0.383	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	C			144469252	+1	no_errors	ENST00000283131	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SOX5	6660	genome.wustl.edu	37	12	24048783	24048783	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:24048783G>C	ENST00000451604.2	-	2	315	c.214C>G	c.(214-216)Ctg>Gtg	p.L72V	SOX5_ENST00000541536.1_Missense_Mutation_p.L59V|SOX5_ENST00000537393.1_Intron|SOX5_ENST00000441133.2_Intron|SOX5_ENST00000546136.1_Missense_Mutation_p.L59V|SOX5_ENST00000545921.1_Missense_Mutation_p.L62V|SOX5_ENST00000381381.2_Missense_Mutation_p.L59V|SOX5_ENST00000541847.1_Missense_Mutation_p.L62V|SOX5_ENST00000309359.1_Missense_Mutation_p.L59V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	72					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGCGTCAGCAGAGAAACTGGC	0.488																																																	0													229.0	222.0	224.0					12																	24048783		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.214C>G	12.37:g.24048783G>C	ENSP00000398273:p.Leu72Val		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.L72V	ENST00000451604.2	37	c.214	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744853	0.30865	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000538083	D;D;D;D;D;D	0.96830	-4.13;-4.13;-4.14;-4.13;-4.14;-4.13	5.79	4.9	0.64082	.	0.305967	0.28671	N	0.014526	D	0.92629	0.7658	L	0.34521	1.04	0.37357	D	0.91104	B;B	0.16802	0.012;0.019	B;B	0.20184	0.006;0.028	D	0.90572	0.4523	10	0.42905	T	0.14	.	10.9818	0.47499	0.1421:0.0:0.8579:0.0	.	59;72	P35711-4;P35711	.;SOX5_HUMAN	V	59;59;59;72;59;62;62;59	ENSP00000437487:L59V;ENSP00000308927:L59V;ENSP00000370788:L59V;ENSP00000398273:L72V;ENSP00000441973:L59V;ENSP00000443520:L62V	ENSP00000308927:L59V	L	-	1	2	SOX5	23940050	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.557000	0.53741	1.462000	0.47948	-0.145000	0.13849	CTG	SOX5	-	NULL		0.488	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	G	NM_006940		24048783	-1	no_errors	ENST00000451604	ensembl	human	known	70_37	missense	SNP	1.000	C
RILPL1	353116	genome.wustl.edu	37	12	123956991	123956991	+	3'UTR	SNP	G	G	A	rs554637256		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr12:123956991G>A	ENST00000376874.4	-	0	1541				SNRNP35_ENST00000527158.2_3'UTR|RILPL1_ENST00000340724.6_3'UTR|RILPL1_ENST00000544468.1_3'UTR	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1						epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CATCTGCACCGAGAGGCTTGA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19198	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001624	3_prime_UTR_variant	11066			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.*94C>T	12.37:g.123956991G>A			Q66K36|Q8N1M0	RNA	SNP	-	NULL	ENST00000376874.4	37	NULL	CCDS45006.1	12																																																																																			SNRNP35	-	-		0.527	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP35	HGNC	protein_coding	OTTHUMT00000400595.1	G	NM_178314		123956991	+1	no_errors	ENST00000527158	ensembl	human	known	70_37	rna	SNP	0.000	A
SPIN3	169981	genome.wustl.edu	37	X	57021369	57021369	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:57021369C>T	ENST00000374919.3	-	2	334	c.12G>A	c.(10-12)ccG>ccA	p.P4P		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	4				P -> A (in Ref. 1; BAH14098). {ECO:0000305}.	gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTTTCCAAACGGGGTCTTCA	0.522																																																	0													31.0	30.0	31.0					X																	57021369		2067	4168	6235	SO:0001819	synonymous_variant	169981			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.12G>A	X.37:g.57021369C>T			B2RUW3|B7Z8W2|Q8N5D9	Silent	SNP	pfam_Spin_Ssty	p.P4	ENST00000374919.3	37	c.12	CCDS43963.1	X																																																																																			SPIN3	-	NULL		0.522	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN3	HGNC	protein_coding	OTTHUMT00000056908.1	C	XM_093024		57021369	-1	no_errors	ENST00000374919	ensembl	human	known	70_37	silent	SNP	0.006	T
SPTBN1	6711	genome.wustl.edu	37	2	54871601	54871601	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:54871601G>A	ENST00000356805.4	+	20	4428	c.4147G>A	c.(4147-4149)Gaa>Aaa	p.E1383K	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1370K	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1383					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAACAAGGCCGAACTTTTCAC	0.488																																																	0													80.0	78.0	79.0					2																	54871601		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4147G>A	2.37:g.54871601G>A	ENSP00000349259:p.Glu1383Lys		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1383K	ENST00000356805.4	37	c.4147	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.780481	0.96929	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.52526	0.66;0.66	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	M	0.64630	1.985	0.80722	D	1	P;P	0.51791	0.948;0.817	P;B	0.46758	0.526;0.435	T	0.57825	-0.7744	10	0.52906	T	0.07	.	19.929	0.97113	0.0:0.0:1.0:0.0	.	1370;1383	Q01082-3;Q01082	.;SPTB2_HUMAN	K	1383;1370	ENSP00000349259:E1383K;ENSP00000334156:E1370K	ENSP00000334156:E1370K	E	+	1	0	SPTBN1	54725105	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.802000	0.99131	2.706000	0.92434	0.655000	0.94253	GAA	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.488	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G			54871601	+1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	1.000	A
SRRM5	100170229	genome.wustl.edu	37	19	44117613	44117613	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:44117613G>C	ENST00000607544.1	+	3	1662	c.1340G>C	c.(1339-1341)aGa>aCa	p.R447T	SRRM5_ENST00000417606.1_Missense_Mutation_p.R447T|SRRM5_ENST00000526798.1_Missense_Mutation_p.R462T|ZNF428_ENST00000300811.3_Intron			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	447	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						TACAAGGCGAGAGATCGCAGC	0.542																																																	0													45.0	62.0	57.0					19																	44117613		692	1591	2283	SO:0001583	missense	100170229			AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.1340G>C	19.37:g.44117613G>C	ENSP00000476253:p.Arg447Thr		B4DNF0	Missense_Mutation	SNP	NULL	p.R462T	ENST00000607544.1	37	c.1385	CCDS46095.1	19	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499513	0.44455	.	.	ENSG00000226763	ENST00000526798;ENST00000417606	.	.	.	3.93	1.12	0.20585	.	.	.	.	.	T	0.43100	0.1232	L	0.32530	0.975	0.29359	N	0.864825	D	0.57571	0.98	P	0.56865	0.808	T	0.37291	-0.9712	8	0.66056	D	0.02	.	7.4413	0.27185	0.2808:0.0:0.7192:0.0	.	447	B3KS81	SRRM5_HUMAN	T	462;447	.	ENSP00000414512:R447T	R	+	2	0	SRRM5	48809453	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.003000	0.13083	0.354000	0.24105	0.644000	0.83932	AGA	SRRM5	-	NULL		0.542	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	SRRM5	HGNC	protein_coding	OTTHUMT00000384398.2	G	NM_001145641		44117613	+1	no_errors	ENST00000526798	ensembl	human	known	70_37	missense	SNP	0.016	C
SRRM5	100170229	genome.wustl.edu	37	19	44117971	44117971	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:44117971G>C	ENST00000607544.1	+	3	2020	c.1698G>C	c.(1696-1698)gaG>gaC	p.E566D	SRRM5_ENST00000417606.1_Missense_Mutation_p.E566D|SRRM5_ENST00000526798.1_Missense_Mutation_p.E581D|ZNF428_ENST00000300811.3_Intron			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	566	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						CCAGCAAAGAGAGAGATCGCA	0.552																																																	0													103.0	118.0	113.0					19																	44117971		692	1591	2283	SO:0001583	missense	100170229			AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.1698G>C	19.37:g.44117971G>C	ENSP00000476253:p.Glu566Asp		B4DNF0	Missense_Mutation	SNP	NULL	p.E581D	ENST00000607544.1	37	c.1743	CCDS46095.1	19	.	.	.	.	.	.	.	.	.	.	g	10.70	1.425367	0.25639	.	.	ENSG00000226763	ENST00000526798;ENST00000417606	.	.	.	4.53	-4.62	0.03370	.	.	.	.	.	T	0.22003	0.0530	L	0.29908	0.895	0.09310	N	1	B	0.20550	0.046	B	0.18263	0.021	T	0.25984	-1.0116	8	0.20046	T	0.44	.	3.6055	0.08041	0.1544:0.3447:0.3837:0.1173	.	566	B3KS81	SRRM5_HUMAN	D	581;566	.	ENSP00000414512:E566D	E	+	3	2	SRRM5	48809811	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.925000	0.01564	-0.324000	0.08589	-0.121000	0.15023	GAG	SRRM5	-	NULL		0.552	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	SRRM5	HGNC	protein_coding	OTTHUMT00000384398.2	G	NM_001145641		44117971	+1	no_errors	ENST00000526798	ensembl	human	known	70_37	missense	SNP	0.000	C
SRRM5	100170229	genome.wustl.edu	37	19	44118135	44118135	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:44118135G>A	ENST00000607544.1	+	3	2184	c.1862G>A	c.(1861-1863)aGa>aAa	p.R621K	SRRM5_ENST00000417606.1_Missense_Mutation_p.R621K|SRRM5_ENST00000526798.1_Missense_Mutation_p.R636K|ZNF428_ENST00000300811.3_Intron			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	621	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						AGCCGATCTAGAACCCCCAGC	0.517																																																	0													73.0	78.0	76.0					19																	44118135		692	1591	2283	SO:0001583	missense	100170229			AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.1862G>A	19.37:g.44118135G>A	ENSP00000476253:p.Arg621Lys		B4DNF0	Missense_Mutation	SNP	NULL	p.R636K	ENST00000607544.1	37	c.1907	CCDS46095.1	19	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481458	0.44147	.	.	ENSG00000226763	ENST00000526798;ENST00000417606	.	.	.	4.07	0.81	0.18732	.	.	.	.	.	T	0.30665	0.0772	L	0.34521	1.04	0.09310	N	1	P	0.34639	0.461	B	0.36464	0.225	T	0.18272	-1.0342	8	0.39692	T	0.17	.	7.6359	0.28266	0.2946:0.0:0.7054:0.0	.	621	B3KS81	SRRM5_HUMAN	K	636;621	.	ENSP00000414512:R621K	R	+	2	0	SRRM5	48809975	0.141000	0.22595	0.003000	0.11579	0.145000	0.21501	1.324000	0.33712	0.285000	0.22329	0.650000	0.86243	AGA	SRRM5	-	NULL		0.517	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	SRRM5	HGNC	protein_coding	OTTHUMT00000384398.2	G	NM_001145641		44118135	+1	no_errors	ENST00000526798	ensembl	human	known	70_37	missense	SNP	0.012	A
SSRP1	6749	genome.wustl.edu	37	11	57101942	57101942	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:57101942C>T	ENST00000278412.2	-	3	501	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	79					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCACCGATTCTCGGAAGCCA	0.458																																					Colon(89;1000 1340 6884 23013 41819)												0													245.0	233.0	237.0					11																	57101942		2201	4296	6497	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.235G>A	11.37:g.57101942C>T	ENSP00000278412:p.Glu79Lys		Q5BJG8	Missense_Mutation	SNP	pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition	p.E79K	ENST00000278412.2	37	c.235	CCDS7952.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.722735	0.96847	.	.	ENSG00000149136	ENST00000278412	T	0.48201	0.82	5.87	5.87	0.94306	.	0.045861	0.85682	D	0.000000	T	0.68632	0.3022	M	0.66439	2.03	0.58432	D	0.999999	D;P	0.71674	0.998;0.932	D;P	0.76575	0.988;0.811	T	0.64980	-0.6279	10	0.41790	T	0.15	-29.0771	19.7898	0.96452	0.0:1.0:0.0:0.0	.	283;79	Q59GH7;Q08945	.;SSRP1_HUMAN	K	79	ENSP00000278412:E79K	ENSP00000278412:E79K	E	-	1	0	SSRP1	56858518	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.224000	0.78042	2.780000	0.95670	0.561000	0.74099	GAA	SSRP1	-	NULL		0.458	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSRP1	HGNC	protein_coding	OTTHUMT00000392460.1	C	NM_003146		57101942	-1	no_errors	ENST00000278412	ensembl	human	known	70_37	missense	SNP	1.000	T
STAT5B	6777	genome.wustl.edu	37	17	40353804	40353804	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:40353804G>A	ENST00000293328.3	-	19	2484	c.2316C>T	c.(2314-2316)ctC>ctT	p.L772L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	772					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCGGCCCAGGAGCTCCTCCA	0.587																																																	0													83.0	76.0	78.0					17																	40353804		2203	4300	6503	SO:0001819	synonymous_variant	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.2316C>T	17.37:g.40353804G>A			Q8WWS8	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.L772	ENST00000293328.3	37	c.2316	CCDS11423.1	17																																																																																			STAT5B	-	NULL		0.587	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	G	NM_012448		40353804	-1	no_errors	ENST00000293328	ensembl	human	known	70_37	silent	SNP	0.875	A
STS	412	genome.wustl.edu	37	X	7177409	7177409	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chrX:7177409G>C	ENST00000217961.4	+	5	637	c.417G>C	c.(415-417)atG>atC	p.M139I		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	139					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	ACCTTGGGATGAGCTGTCACA	0.468									Ichthyosis																																								0													147.0	121.0	130.0					X																	7177409		2203	4299	6502	SO:0001583	missense	412	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.417G>C	X.37:g.7177409G>C	ENSP00000217961:p.Met139Ile		B2RA47	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.M139I	ENST00000217961.4	37	c.417	CCDS14127.1	X	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118410	0.06838	.	.	ENSG00000101846	ENST00000217961	D	0.98512	-4.97	3.83	-4.36	0.03645	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.825279	0.11103	N	0.599454	D	0.92583	0.7644	N	0.10945	0.07	0.09310	N	0.999997	B	0.02656	0.0	B	0.12837	0.008	D	0.83861	0.0268	10	0.39692	T	0.17	.	9.3171	0.37941	0.2627:0.1199:0.6173:0.0	.	139	P08842	STS_HUMAN	I	139	ENSP00000217961:M139I	ENSP00000217961:M139I	M	+	3	0	STS	7187409	0.864000	0.29904	0.000000	0.03702	0.324000	0.28378	0.095000	0.15127	-1.186000	0.02713	0.600000	0.82982	ATG	STS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.468	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STS	HGNC	protein_coding	OTTHUMT00000055686.1	G	NM_000351		7177409	+1	no_errors	ENST00000217961	ensembl	human	known	70_37	missense	SNP	0.032	C
SWAP70	23075	genome.wustl.edu	37	11	9749720	9749720	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:9749720C>T	ENST00000318950.6	+	5	866	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	SWAP70_ENST00000447399.2_Missense_Mutation_p.L197F	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	255	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGGAGACATTCTCTTGGATGA	0.423																																																	0													199.0	194.0	196.0					11																	9749720		2201	4294	6495	SO:0001583	missense	23075			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.763C>T	11.37:g.9749720C>T	ENSP00000315630:p.Leu255Phe		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_HAND_2,pfscan_Pleckstrin_homology	p.L255F	ENST00000318950.6	37	c.763	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	C	7.619	0.676494	0.14841	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.75367	-0.93;-0.93;-0.93	5.97	-8.62	0.00881	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.906581	0.09608	N	0.779314	T	0.48554	0.1506	L	0.33668	1.02	0.09310	N	0.999994	B;B;B	0.15141	0.012;0.0;0.0	B;B;B	0.23419	0.046;0.002;0.002	T	0.47032	-0.9148	10	0.09843	T	0.71	0.6707	0.9611	0.01396	0.422:0.1242:0.2125:0.2412	.	197;255;197	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	F	197;255;106	ENSP00000399056:L197F;ENSP00000315630:L255F;ENSP00000435587:L106F	ENSP00000315630:L255F	L	+	1	0	SWAP70	9706296	0.000000	0.05858	0.160000	0.22671	0.989000	0.77384	-1.113000	0.03296	-1.117000	0.02965	0.561000	0.74099	CTC	SWAP70	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.423	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	HGNC	protein_coding	OTTHUMT00000386766.2	C	NM_015055		9749720	+1	no_errors	ENST00000318950	ensembl	human	known	70_37	missense	SNP	0.000	T
SYNE2	23224	genome.wustl.edu	37	14	64686090	64686090	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr14:64686090G>A	ENST00000344113.4	+	109	19965	c.19753G>A	c.(19753-19755)Gat>Aat	p.D6585N	SYNE2_ENST00000554805.1_Missense_Mutation_p.D368N|SYNE2_ENST00000555022.1_Missense_Mutation_p.D463N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D6608N|SYNE2_ENST00000357395.3_Missense_Mutation_p.D2970N|SYNE2_ENST00000555002.1_Missense_Mutation_p.D3242N|SYNE2_ENST00000441438.2_Missense_Mutation_p.D116N|SYNE2_ENST00000554584.1_Missense_Mutation_p.D6501N|SYNE2_ENST00000458046.2_Missense_Mutation_p.D242N|SYNE2_ENST00000394768.2_Missense_Mutation_p.D2970N|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6585					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCCTCCCTCTGATATCCAGGA	0.453																																																	0													79.0	75.0	77.0					14																	64686090		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19753G>A	14.37:g.64686090G>A	ENSP00000341781:p.Asp6585Asn		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D6608N	ENST00000344113.4	37	c.19822	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287047	0.23478	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.53	-2.17	0.07059	.	0.983094	0.08291	N	0.968509	T	0.64103	0.2568	L	0.56396	1.775	0.09310	N	1	B;P;B;B;B;B;P;D	0.54601	0.07;0.593;0.033;0.033;0.087;0.001;0.763;0.967	B;B;B;B;B;B;P;P	0.54026	0.075;0.381;0.045;0.045;0.119;0.003;0.574;0.74	T	0.62548	-0.6831	10	0.87932	D	0	.	12.3836	0.55322	0.7335:0.0:0.2665:0.0	.	242;2970;116;242;973;6501;6585;6608	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	N	6608;2970;6585;6501;6507;3242;2970;463;368;242;116	ENSP00000350719:D6608N;ENSP00000349969:D2970N;ENSP00000341781:D6585N;ENSP00000452570:D6501N;ENSP00000450831:D3242N;ENSP00000378249:D2970N;ENSP00000451009:D463N;ENSP00000450605:D368N;ENSP00000391937:D242N;ENSP00000396794:D116N	ENSP00000261678:D6507N	D	+	1	0	SYNE2	63755843	0.000000	0.05858	0.000000	0.03702	0.494000	0.33585	0.229000	0.17833	-0.496000	0.06650	0.655000	0.94253	GAT	SYNE2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.453	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64686090	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.000	A
TAF9	6880	genome.wustl.edu	37	5	68660976	68660976	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:68660976G>T	ENST00000328663.4	-	3	1055	c.589C>A	c.(589-591)Cca>Aca	p.P197T	TAF9_ENST00000217893.5_Missense_Mutation_p.P197T|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.P197T|TAF9_ENST00000512561.1_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	197					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TTTACAGCTGGAGACTGAGAA	0.423																																																	0													141.0	136.0	138.0					5																	68660976		2203	4300	6503	SO:0001583	missense	6880			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.589C>A	5.37:g.68660976G>T	ENSP00000370193:p.Pro197Thr		D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	pfam_TFIID-31,pfam_BTP,superfamily_Histone-fold	p.P197T	ENST00000328663.4	37	c.589	CCDS4002.1	5	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498402	0.26861	.	.	ENSG00000085231	ENST00000506736;ENST00000328663;ENST00000217893;ENST00000503245	T;T;T;T	0.43294	1.4;1.4;1.4;0.95	5.69	4.81	0.61882	.	0.286252	0.39687	N	0.001287	T	0.23532	0.0569	N	0.24115	0.695	0.31133	N	0.707487	B	0.15473	0.013	B	0.14023	0.01	T	0.17198	-1.0377	10	0.08381	T	0.77	-14.8897	8.019	0.30398	0.1681:0.0:0.8319:0.0	.	197	Q16594	TAF9_HUMAN	T	197	ENSP00000421873:P197T;ENSP00000370193:P197T;ENSP00000217893:P197T;ENSP00000425944:P197T	ENSP00000217893:P197T	P	-	1	0	TAF9	68696732	0.998000	0.40836	1.000000	0.80357	0.895000	0.52256	1.194000	0.32174	2.859000	0.98148	0.591000	0.81541	CCA	TAF9	-	NULL		0.423	TAF9-201	KNOWN	basic|CCDS	protein_coding	TAF9	HGNC	protein_coding	OTTHUMT00000216803.1	G	NM_003187		68660976	-1	no_errors	ENST00000217893	ensembl	human	known	70_37	missense	SNP	1.000	T
TAF9	6880	genome.wustl.edu	37	5	68660982	68660982	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:68660982G>A	ENST00000328663.4	-	3	1049	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	TAF9_ENST00000217893.5_Nonsense_Mutation_p.Q195*|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Nonsense_Mutation_p.Q195*|TAF9_ENST00000512561.1_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	195					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GCTGGAGACTGAGAAGTAGGC	0.438																																																	0													140.0	135.0	136.0					5																	68660982		2203	4300	6503	SO:0001587	stop_gained	6880			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.583C>T	5.37:g.68660982G>A	ENSP00000370193:p.Gln195*		D3DWA3|Q5U0D1|Q9BTS1	Nonsense_Mutation	SNP	pfam_TFIID-31,pfam_BTP,superfamily_Histone-fold	p.Q195*	ENST00000328663.4	37	c.583	CCDS4002.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.685064	0.96784	.	.	ENSG00000085231	ENST00000506736;ENST00000328663;ENST00000217893;ENST00000503245	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-5.2984	17.6839	0.88251	0.0:0.0:1.0:0.0	.	.	.	.	X	195	.	ENSP00000217893:Q195X	Q	-	1	0	TAF9	68696738	1.000000	0.71417	0.993000	0.49108	0.741000	0.42261	8.397000	0.90193	2.859000	0.98148	0.591000	0.81541	CAG	TAF9	-	NULL		0.438	TAF9-201	KNOWN	basic|CCDS	protein_coding	TAF9	HGNC	protein_coding	OTTHUMT00000216803.1	G	NM_003187		68660982	-1	no_errors	ENST00000217893	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SYNPO	11346	genome.wustl.edu	37	5	150028756	150028756	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:150028756T>C	ENST00000394243.1	+	3	2025	c.1651T>C	c.(1651-1653)Tca>Cca	p.S551P	SYNPO_ENST00000307662.4_Missense_Mutation_p.S307P|SYNPO_ENST00000519664.1_Missense_Mutation_p.S307P|SYNPO_ENST00000522122.1_Missense_Mutation_p.S551P	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	551					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCCGGCCTCAGAGAGACG	0.632																																																	0													42.0	51.0	48.0					5																	150028756		2203	4300	6503	SO:0001583	missense	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1651T>C	5.37:g.150028756T>C	ENSP00000377789:p.Ser551Pro		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.S551P	ENST00000394243.1	37	c.1651	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	T	5.847	0.340541	0.11069	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.24151	1.9;1.9;1.87	5.18	-0.971	0.10303	.	1.880000	0.02965	N	0.143711	T	0.12050	0.0293	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.17745	-1.0359	10	0.35671	T	0.21	-0.2193	1.5429	0.02559	0.1539:0.1111:0.3163:0.4187	.	307;551	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	P	551;551;307;307	ENSP00000377789:S551P;ENSP00000428378:S551P;ENSP00000429268:S307P	ENSP00000302139:S307P	S	+	1	0	SYNPO	150008949	0.000000	0.05858	0.164000	0.22755	0.343000	0.28985	-1.434000	0.02425	-0.059000	0.13154	0.459000	0.35465	TCA	SYNPO	-	NULL		0.632	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	T	NM_007286		150028756	+1	no_errors	ENST00000394243	ensembl	human	known	70_37	missense	SNP	0.122	C
TCAM1P	146771	genome.wustl.edu	37	17	61940101	61940101	+	RNA	SNP	A	A	C	rs200888650		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr17:61940101A>C	ENST00000478379.1	+	0	1679					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		ATGAAGGAATAAGCTCTACCC	0.512																																																	0																																												146771			AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61940101A>C				RNA	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			TCAM1P	-	-		0.512	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1	A			61940101	+1	no_errors	ENST00000478379	ensembl	human	known	70_37	rna	SNP	0.039	C
TDRD10	126668	genome.wustl.edu	37	1	154516899	154516899	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:154516899G>A	ENST00000368480.3	+	10	788	c.703G>A	c.(703-705)Gag>Aag	p.E235K	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Missense_Mutation_p.E235K			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	235	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAGGCGGAGGAGCAGCAGCC	0.607																																																	0													34.0	28.0	30.0					1																	154516899		2203	4300	6503	SO:0001583	missense	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.703G>A	1.37:g.154516899G>A	ENSP00000357465:p.Glu235Lys		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E235K	ENST00000368480.3	37	c.703	CCDS41406.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014131	0.75161	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.11169	2.8;2.8	3.54	1.49	0.22878	Maternal tudor protein (1);	0.699242	0.11820	N	0.526298	T	0.08714	0.0216	L	0.27053	0.805	0.09310	N	1	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.986	T	0.21724	-1.0237	10	0.66056	D	0.02	-14.1243	9.1545	0.36985	0.0:0.4409:0.5591:0.0	.	235;235	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	K	235	ENSP00000357467:E235K;ENSP00000357465:E235K	ENSP00000357465:E235K	E	+	1	0	TDRD10	152783523	0.018000	0.18449	0.001000	0.08648	0.591000	0.36615	0.618000	0.24373	0.138000	0.18790	0.557000	0.71058	GAG	TDRD10	-	pfam_Tudor		0.607	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	G	NM_182499		154516899	+1	no_errors	ENST00000368480	ensembl	human	known	70_37	missense	SNP	0.001	A
TECPR2	9895	genome.wustl.edu	37	14	102901414	102901414	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr14:102901414G>A	ENST00000359520.7	+	9	2486	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	TECPR2_ENST00000558678.1_Missense_Mutation_p.E754K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	754					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTCCAGCGATGAGGAGGACAT	0.607																																																	0													66.0	63.0	64.0					14																	102901414		2203	4300	6503	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2260G>A	14.37:g.102901414G>A	ENSP00000352510:p.Glu754Lys		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.E754K	ENST00000359520.7	37	c.2260	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626550	0.87560	.	.	ENSG00000196663	ENST00000359520	T	0.20332	2.08	5.31	5.31	0.75309	.	0.201289	0.44688	D	0.000423	T	0.34629	0.0904	L	0.29908	0.895	0.46798	D	0.999206	D;D	0.76494	0.999;0.999	D;D	0.68039	0.955;0.955	T	0.02766	-1.1113	9	.	.	.	.	19.0438	0.93012	0.0:0.0:1.0:0.0	.	754;754	A5PKY3;O15040	.;TCPR2_HUMAN	K	754	ENSP00000352510:E754K	.	E	+	1	0	TECPR2	101971167	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	6.502000	0.73695	2.504000	0.84457	0.555000	0.69702	GAG	TECPR2	-	NULL		0.607	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	G	NM_014844		102901414	+1	no_errors	ENST00000359520	ensembl	human	known	70_37	missense	SNP	1.000	A
TEKT4P2	100132288	genome.wustl.edu	37	21	9908223	9908223	+	RNA	SNP	G	G	A	rs374471127	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr21:9908223G>A	ENST00000416067.1	-	0	569					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		GGAGAGGGTCGCAGCGAGGAG	0.627													.|||	279	0.0557109	0.0129	0.049	5008	,	,		23956	0.0942		0.0616	False		,,,				2504	0.0726																0																																												100132288					21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9908223G>A				RNA	SNP	-	NULL	ENST00000416067.1	37	NULL		21																																																																																			TEKT4P2	-	-		0.627	TEKT4P2-002	KNOWN	basic	processed_transcript	TEKT4P2	HGNC	pseudogene	OTTHUMT00000417115.1	G	NM_001033515		9908223	-1	no_errors	ENST00000416067	ensembl	human	known	70_37	rna	SNP	0.000	A
TET1	80312	genome.wustl.edu	37	10	70405425	70405425	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:70405425C>T	ENST00000373644.4	+	4	3148	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	980					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTTTCCAACTCACATATCAAC	0.373																																																	0													112.0	105.0	107.0					10																	70405425		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2939C>T	10.37:g.70405425C>T	ENSP00000362748:p.Ser980Leu		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.S980L	ENST00000373644.4	37	c.2939	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	5.473	0.272284	0.10349	.	.	ENSG00000138336	ENST00000373644	T	0.07327	3.2	5.79	1.57	0.23409	.	4.691380	0.00520	N	0.000198	T	0.07593	0.0191	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.35624	-0.9781	10	0.46703	T	0.11	.	1.6842	0.02838	0.159:0.4501:0.1561:0.2348	.	980	Q8NFU7	TET1_HUMAN	L	980	ENSP00000362748:S980L	ENSP00000362748:S980L	S	+	2	0	TET1	70075431	0.000000	0.05858	0.051000	0.19133	0.554000	0.35429	0.151000	0.16283	0.748000	0.32831	0.557000	0.71058	TCA	TET1	-	NULL		0.373	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	C	NM_030625		70405425	+1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	0.001	T
THSD1	55901	genome.wustl.edu	37	13	52971859	52971859	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr13:52971859C>T	ENST00000258613.4	-	3	707	c.529G>A	c.(529-531)Gag>Aag	p.E177K	THSD1_ENST00000544466.1_Intron|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.E177K	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	177					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.E177K(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTTCTTGCCTCAGGAAGACTG	0.502																																																	1	Substitution - Missense(1)	lung(1)											78.0	66.0	70.0					13																	52971859		2203	4300	6503	SO:0001583	missense	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.529G>A	13.37:g.52971859C>T	ENSP00000258613:p.Glu177Lys		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E177K	ENST00000258613.4	37	c.529	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896773	0.33535	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.18960	2.18;2.36	5.54	3.78	0.43462	.	0.472083	0.23842	N	0.044024	T	0.45034	0.1322	M	0.72118	2.19	0.23869	N	0.996616	D;P	0.71674	0.998;0.636	D;B	0.80764	0.994;0.178	T	0.39165	-0.9627	10	0.45353	T	0.12	-11.5864	15.1207	0.72441	0.0:0.7108:0.2892:0.0	.	177;177	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	K	177	ENSP00000340650:E177K;ENSP00000258613:E177K	ENSP00000258613:E177K	E	-	1	0	THSD1	51869860	0.503000	0.26115	0.029000	0.17559	0.152000	0.21847	1.252000	0.32874	0.668000	0.31126	-0.311000	0.09066	GAG	THSD1	-	NULL		0.502	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	C			52971859	-1	no_errors	ENST00000258613	ensembl	human	known	70_37	missense	SNP	0.134	T
TIAM1	7074	genome.wustl.edu	37	21	32638893	32638893	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr21:32638893G>A	ENST00000286827.3	-	5	867	c.396C>T	c.(394-396)agC>agT	p.S132S	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.S132S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	132					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGTAAAGCCTGCTCTCCTCAG	0.547																																																	0													96.0	80.0	86.0					21																	32638893		2203	4300	6503	SO:0001819	synonymous_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.396C>T	21.37:g.32638893G>A			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.S132	ENST00000286827.3	37	c.396	CCDS13609.1	21																																																																																			TIAM1	-	NULL		0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32638893	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	silent	SNP	0.997	A
TMEM223	79064	genome.wustl.edu	37	11	62558226	62558226	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:62558226G>A	ENST00000307366.7	-	2	504	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	TMEM223_ENST00000527073.1_Intron|NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000525631.1_Intron	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	160						integral component of membrane (GO:0016021)											ACTTCACCCCGGTGGGCCATG	0.537																																																	0													30.0	31.0	31.0					11																	62558226		1925	4140	6065	SO:0001583	missense	79064				CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.478C>T	11.37:g.62558226G>A	ENSP00000303987:p.Arg160Trp		Q504S0|Q86YD4|Q8WUC5|Q96HG0	Missense_Mutation	SNP	NULL	p.R160W	ENST00000307366.7	37	c.478	CCDS44628.1	11	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515626	0.64634	.	.	ENSG00000168569	ENST00000307366	T	0.59906	0.23	5.13	4.19	0.49359	.	0.000000	0.64402	D	0.000001	T	0.73265	0.3565	M	0.71206	2.165	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.75952	-0.3136	10	0.87932	D	0	-11.3917	12.3184	0.54971	0.0:0.0:0.8233:0.1767	.	160	A0PJW6	TM223_HUMAN	W	160	ENSP00000303987:R160W	ENSP00000303987:R160W	R	-	1	2	TMEM223	62314802	1.000000	0.71417	0.992000	0.48379	0.571000	0.35966	3.859000	0.55987	1.099000	0.41499	0.455000	0.32223	CGG	TMEM223	-	NULL		0.537	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM223	HGNC	protein_coding	OTTHUMT00000395674.1	G			62558226	-1	no_errors	ENST00000307366	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM59L	25789	genome.wustl.edu	37	19	18724918	18724918	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:18724918C>T	ENST00000600490.1	+	4	506	c.321C>T	c.(319-321)tgC>tgT	p.C107C	TMEM59L_ENST00000262817.3_Silent_p.C107C			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	107						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCACAGCCTGCGTGGAAGCCT	0.711																																																	0													17.0	18.0	17.0					19																	18724918		2199	4295	6494	SO:0001819	synonymous_variant	25789			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.321C>T	19.37:g.18724918C>T				Silent	SNP	pfam_Uncharacterised_TMEM59	p.C107	ENST00000600490.1	37	c.321	CCDS12383.1	19																																																																																			TMEM59L	-	pfam_Uncharacterised_TMEM59		0.711	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	TMEM59L	HGNC	protein_coding	OTTHUMT00000465143.2	C			18724918	+1	no_errors	ENST00000262817	ensembl	human	known	70_37	silent	SNP	0.596	T
TNRC6A	27327	genome.wustl.edu	37	16	24805874	24805874	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr16:24805874C>G	ENST00000395799.3	+	8	3491	c.3362C>G	c.(3361-3363)tCt>tGt	p.S1121C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1121C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1121	Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGCCAAAATCTATGCAAGAT	0.393																																																	0													106.0	102.0	104.0					16																	24805874		2197	4300	6497	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3362C>G	16.37:g.24805874C>G	ENSP00000379144:p.Ser1121Cys		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.S1121C	ENST00000395799.3	37	c.3362	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.483845|4.483845	0.84854|0.84854	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799	.|T;T	.|0.51325	.|0.71;0.71	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Argonaute hook domain (1);	.|0.190293	.|0.47852	.|D	.|0.000204	T|T	0.72203|0.72203	0.3431|0.3431	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.76071	.|0.987;0.947;0.979	T|T	0.72871|0.72871	-0.4161|-0.4161	5|10	.|0.72032	.|D	.|0.01	-8.502|-8.502	20.5948|20.5948	0.99439|0.99439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|868;1121;1121	.|Q8NDV7-2;Q8NDV7-6;Q8NDV7	.|.;.;TNR6A_HUMAN	M|C	60|1121	.|ENSP00000326900:S1121C;ENSP00000379144:S1121C	.|ENSP00000326900:S1121C	I|S	+|+	3|2	3|0	TNRC6A|TNRC6A	24713375|24713375	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.532000|5.532000	0.67154|0.67154	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	ATC|TCT	TNRC6A	-	pfam_Argonaute_hook_dom		0.393	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	C	NM_020847		24805874	+1	no_errors	ENST00000395799	ensembl	human	known	70_37	missense	SNP	1.000	G
TP53BP2	7159	genome.wustl.edu	37	1	223987747	223987747	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr1:223987747C>T	ENST00000343537.7	-	11	1630	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.D318N	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	441					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TCTCCATCATCAACTAAAGAC	0.413																																																	0													124.0	112.0	116.0					1																	223987747		2203	4300	6503	SO:0001583	missense	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1339G>A	1.37:g.223987747C>T	ENSP00000341957:p.Asp447Asn		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D447N	ENST00000343537.7	37	c.1339	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082997	0.55861	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.47177	0.85;1.01	5.8	5.8	0.92144	.	0.181315	0.45126	D	0.000396	T	0.42562	0.1208	L	0.46157	1.445	0.80722	D	1	B;B	0.30793	0.201;0.295	B;B	0.26202	0.051;0.067	T	0.19976	-1.0289	10	0.22109	T	0.4	.	18.2499	0.89998	0.0:1.0:0.0:0.0	.	447;441	B4DG66;Q13625	.;ASPP2_HUMAN	N	318;447	ENSP00000375750:D318N;ENSP00000341957:D447N	ENSP00000341957:D447N	D	-	1	0	TP53BP2	222054370	1.000000	0.71417	0.460000	0.27093	0.925000	0.55904	3.810000	0.55613	2.758000	0.94735	0.563000	0.77884	GAT	TP53BP2	-	NULL		0.413	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	C	NM_001031685, NM_005426		223987747	-1	no_errors	ENST00000343537	ensembl	human	known	70_37	missense	SNP	0.790	T
TRIM52	84851	genome.wustl.edu	37	5	180687567	180687567	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:180687567C>T	ENST00000327767.4	-	1	552	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	TRIM52-AS1_ENST00000514146.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000505151.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	83	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CAACACCTCTCGAATGGAGCC	0.547																																																	0													186.0	146.0	160.0					5																	180687567		2203	4300	6503	SO:0001583	missense	84851				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.248G>A	5.37:g.180687567C>T	ENSP00000332152:p.Arg83Gln			Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.R83Q	ENST00000327767.4	37	c.248	CCDS4467.1	5	.	.	.	.	.	.	.	.	.	.	c	12.75	2.032979	0.35893	.	.	ENSG00000183718	ENST00000327767	T	0.24151	1.87	3.16	2.25	0.28309	Zinc finger, RING-type (1);	.	.	.	.	T	0.20129	0.0484	L	0.32530	0.975	0.09310	N	1	D	0.65815	0.995	P	0.44673	0.457	T	0.08576	-1.0715	8	.	.	.	.	7.9806	0.30181	0.2451:0.7548:0.0:0.0	.	83	Q96A61	TRI52_HUMAN	Q	83	ENSP00000332152:R83Q	.	R	-	2	0	TRIM52	180620173	0.005000	0.15991	0.059000	0.19551	0.128000	0.20619	0.579000	0.23788	0.596000	0.29794	-0.428000	0.05917	CGA	TRIM52	-	smart_Znf_RING		0.547	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	HGNC	protein_coding	OTTHUMT00000253572.3	C	NM_032765		180687567	-1	no_errors	ENST00000327767	ensembl	human	known	70_37	missense	SNP	0.056	T
TRIOBP	11078	genome.wustl.edu	37	22	38119410	38119410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr22:38119410C>T	ENST00000406386.3	+	7	1102	c.847C>T	c.(847-849)Cga>Tga	p.R283*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	283					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCTCCCCATCGAATCACCCA	0.597																																																	0													99.0	116.0	110.0					22																	38119410		2055	4197	6252	SO:0001587	stop_gained	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.847C>T	22.37:g.38119410C>T	ENSP00000384312:p.Arg283*		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R283*	ENST00000406386.3	37	c.847	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425768	0.83667	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	3.83	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	6.2104	0.20626	0.2158:0.5753:0.209:0.0	.	.	.	.	X	283	.	ENSP00000384312:R283X	R	+	1	2	TRIOBP	36449356	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	0.627000	0.24506	0.264000	0.21851	0.456000	0.33151	CGA	TRIOBP	-	NULL		0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	C			38119410	+1	no_errors	ENST00000406386	ensembl	human	known	70_37	nonsense	SNP	0.000	T
TRMT44	152992	genome.wustl.edu	37	4	8469914	8469914	+	Missense_Mutation	SNP	C	C	G	rs565699312		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr4:8469914C>G	ENST00000389737.4	+	9	1768	c.1768C>G	c.(1768-1770)Cat>Gat	p.H590D	TRMT44_ENST00000513449.2_Missense_Mutation_p.H349D	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	590					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ACCTGGATTTCATCCCAGAGA	0.572																																																	0													41.0	43.0	42.0					4																	8469914		2203	4300	6503	SO:0001583	missense	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1768C>G	4.37:g.8469914C>G	ENSP00000374387:p.His590Asp		Q8NA95	Missense_Mutation	SNP	pfam_tRNA_uracil_MeTrfase	p.H590D	ENST00000389737.4	37	c.1768	CCDS3402.2	4	.	.	.	.	.	.	.	.	.	.	C	9.022	0.985235	0.18889	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.16597	2.34;2.33	4.83	3.01	0.34805	.	0.524430	0.19753	N	0.106859	T	0.11196	0.0273	N	0.22421	0.69	0.21220	N	0.999751	B;B	0.21147	0.015;0.052	B;B	0.23574	0.006;0.047	T	0.22730	-1.0208	10	0.51188	T	0.08	-0.7292	7.0427	0.25029	0.1712:0.7399:0.0:0.0888	.	590;349	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	D	349;590;198	ENSP00000424643:H349D;ENSP00000374387:H590D	ENSP00000285635:H198D	H	+	1	0	METTL19	8520814	1.000000	0.71417	0.006000	0.13384	0.188000	0.23474	4.189000	0.58358	0.576000	0.29452	0.561000	0.74099	CAT	TRMT44	-	NULL		0.572	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRMT44	HGNC	protein_coding	OTTHUMT00000359197.2	C	NM_152544		8469914	+1	no_errors	ENST00000389737	ensembl	human	known	70_37	missense	SNP	0.933	G
TSKS	60385	genome.wustl.edu	37	19	50249909	50249909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:50249909C>T	ENST00000246801.3	-	6	892	c.810G>A	c.(808-810)tgG>tgA	p.W270*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.W70*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	270					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCAGGCTGTTCCAGGAGAGGC	0.736																																																	0													12.0	13.0	13.0					19																	50249909		2186	4270	6456	SO:0001587	stop_gained	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.810G>A	19.37:g.50249909C>T	ENSP00000246801:p.Trp270*		Q8WXJ0	Nonsense_Mutation	SNP	NULL	p.W270*	ENST00000246801.3	37	c.810	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338301	0.60963	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	.	.	.	4.56	-0.271	0.12922	.	0.914943	0.08939	N	0.871939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.3438	4.5513	0.12114	0.0:0.5492:0.1627:0.2881	.	.	.	.	X	270;70	.	ENSP00000246801:W270X	W	-	3	0	TSKS	54941721	0.972000	0.33761	0.564000	0.28396	0.016000	0.09150	0.551000	0.23361	0.153000	0.19213	0.591000	0.81541	TGG	TSKS	-	NULL		0.736	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50249909	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	nonsense	SNP	0.261	T
TSKS	60385	genome.wustl.edu	37	19	50249926	50249926	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:50249926C>T	ENST00000246801.3	-	6	875	c.793G>A	c.(793-795)Gag>Aag	p.E265K	TSKS_ENST00000358830.3_Missense_Mutation_p.E65K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	265					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGCCAGcctccggcttctgc	0.726																																																	0													13.0	13.0	13.0					19																	50249926		2185	4277	6462	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.793G>A	19.37:g.50249926C>T	ENSP00000246801:p.Glu265Lys		Q8WXJ0	Missense_Mutation	SNP	NULL	p.E265K	ENST00000246801.3	37	c.793	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206073	0.58234	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.32753	1.44;1.44	4.78	2.44	0.29823	.	0.292775	0.24336	N	0.039419	T	0.18759	0.0450	L	0.29908	0.895	0.31210	N	0.698787	P	0.40180	0.705	B	0.38264	0.269	T	0.10359	-1.0633	10	0.23891	T	0.37	-26.5757	7.6078	0.28112	0.1869:0.6323:0.1808:0.0	.	265	Q9UJT2	TSKS_HUMAN	K	265;65	ENSP00000246801:E265K;ENSP00000351691:E65K	ENSP00000246801:E265K	E	-	1	0	TSKS	54941738	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	1.832000	0.39151	1.166000	0.42689	0.591000	0.81541	GAG	TSKS	-	NULL		0.726	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50249926	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	missense	SNP	0.998	T
TSKS	60385	genome.wustl.edu	37	19	50249944	50249944	+	Missense_Mutation	SNP	C	C	G	rs550916960|rs59626794	byFrequency	TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:50249944C>G	ENST00000246801.3	-	6	857	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	TSKS_ENST00000358830.3_Missense_Mutation_p.E59Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	259					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		tgcttctcctccggctcctgc	0.711																																																	0													13.0	13.0	13.0					19																	50249944		2186	4278	6464	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.775G>C	19.37:g.50249944C>G	ENSP00000246801:p.Glu259Gln		Q8WXJ0	Missense_Mutation	SNP	NULL	p.E259Q	ENST00000246801.3	37	c.775	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227959	0.22542	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.46819	1.46;0.86	.	.	.	.	0.000000	0.47852	D	0.000215	T	0.25494	0.0620	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12167	-1.0558	9	0.13470	T	0.59	-16.272	3.5848	0.07966	0.0:0.5:0.5:0.0	.	259	Q9UJT2	TSKS_HUMAN	Q	259;59	ENSP00000246801:E259Q;ENSP00000351691:E59Q	ENSP00000246801:E259Q	E	-	1	0	TSKS	54941756	0.233000	0.23772	0.791000	0.31998	0.550000	0.35303	0.000000	0.12993	-0.000000	0.14550	0.000000	0.15137	GAG	TSKS	-	NULL		0.711	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50249944	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	missense	SNP	0.382	G
TTC3	7267	genome.wustl.edu	37	21	38519790	38519790	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr21:38519790G>C	ENST00000399017.2	+	22	4650	c.1903G>C	c.(1903-1905)Gag>Cag	p.E635Q	TTC3_ENST00000540756.1_Missense_Mutation_p.E325Q|TTC3_ENST00000355666.1_Missense_Mutation_p.E635Q|TTC3_ENST00000354749.2_Missense_Mutation_p.E635Q|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	635					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GATGCTGTTAGAGAAATTTGT	0.328																																					Ovarian(38;194 1649 35661)												0													97.0	95.0	96.0					21																	38519790		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1903G>C	21.37:g.38519790G>C	ENSP00000381981:p.Glu635Gln		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.E635Q	ENST00000399017.2	37	c.1903	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.34|18.34	3.601779|3.601779	0.66445|0.66445	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749|ENST00000414818	T;T;T;T;T;T;T|.	0.51817|.	2.49;0.72;2.5;2.81;0.69;2.81;2.81|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.194658|.	0.35970|.	N|.	0.002863|.	T|.	0.44117|.	0.1278|.	L|L	0.27053|0.27053	0.805|0.805	0.36473|0.36473	D|D	0.867359|0.867359	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.80764|.	0.991;0.994|.	T|.	0.48258|.	-0.9051|.	10|.	0.46703|.	T|.	0.11|.	-17.502|-17.502	9.0836|9.0836	0.36567|0.36567	0.0826:0.1506:0.7668:0.0|0.0826:0.1506:0.7668:0.0	.|.	325;635|.	B4DSZ9;P53804|.	.;TTC3_HUMAN|.	Q|Y	635;635;617;635;325;635;635|32	ENSP00000403943:E635Q;ENSP00000408456:E635Q;ENSP00000391891:E617Q;ENSP00000347889:E635Q;ENSP00000442875:E325Q;ENSP00000381981:E635Q;ENSP00000346791:E635Q|.	ENSP00000346791:E635Q|.	E|X	+|+	1|3	0|2	TTC3|TTC3	37441660|37441660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.834000|2.834000	0.48167|0.48167	2.409000|2.409000	0.81822|0.81822	0.650000|0.650000	0.86243|0.86243	GAG|TAG	TTC3	-	NULL		0.328	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	G			38519790	+1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	1.000	C
TTC6	319089	genome.wustl.edu	37	14	38277976	38277976	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr14:38277976C>T	ENST00000476979.1	+	6	683	c.396C>T	c.(394-396)atC>atT	p.I132I	TTC6_ENST00000553443.1_Silent_p.I1498I|TTC6_ENST00000267368.7_Silent_p.I132I|TTC6_ENST00000382320.3_Silent_p.I212I			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	132										central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		CTACAGCTATCAGCATGGACA	0.284																																																	0													124.0	128.0	127.0					14																	38277976		2200	4279	6479	SO:0001819	synonymous_variant	319089			BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.396C>T	14.37:g.38277976C>T			Q3SY88|Q96CE6	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I229	ENST00000476979.1	37	c.687		14																																																																																			TTC6	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.284	TTC6-002	KNOWN	basic	protein_coding	TTC6	HGNC	protein_coding	OTTHUMT00000348621.2	C	XM_002343299		38277976	+1	no_errors	ENST00000478811	ensembl	human	known	70_37	silent	SNP	0.838	T
TTN	7273	genome.wustl.edu	37	2	179432618	179432618	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:179432618C>T	ENST00000591111.1	-	276	73542	c.73318G>A	c.(73318-73320)Gaa>Aaa	p.E24440K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26081K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23513K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17141K|TTN_ENST00000460472.2_Missense_Mutation_p.E17016K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17208K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24440	Fibronectin type-III 77. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ACATAGCATTCAGAATTCTTG	0.403																																																	0													201.0	191.0	194.0					2																	179432618		1882	4104	5986	SO:0001583	missense	7273			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.73318G>A	2.37:g.179432618C>T	ENSP00000465570:p.Glu24440Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E23513K	ENST00000591111.1	37	c.70537		2	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858160	0.51376	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.58	5.58	0.84498	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65165	0.2665	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.75020	0.985;0.985;0.985;0.985	T	0.67059	-0.5766	9	0.87932	D	0	.	19.5644	0.95388	0.0:1.0:0.0:0.0	.	17016;17141;17208;24440	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	23513;17016;17208;17141;17014	ENSP00000343764:E23513K;ENSP00000434586:E17016K;ENSP00000340554:E17208K;ENSP00000352154:E17141K	ENSP00000340554:E17208K	E	-	1	0	TTN	179140864	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.818000	0.86416	2.615000	0.88500	0.555000	0.69702	GAA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179432618	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TYW1B	441250	genome.wustl.edu	37	7	72277881	72277881	+	RNA	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:72277881G>A	ENST00000435769.2	-	0	623				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CGTCGCAGTCGCCCTCCCCTC	0.522																																																	0													74.0	65.0	68.0					7																	72277881		692	1591	2283			441250			BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72277881G>A			A6NG09|B4DFY2|Q3KQX2	RNA	SNP	-	NULL	ENST00000435769.2	37	NULL		7																																																																																			TYW1B	-	-		0.522	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	TYW1B	HGNC	polymorphic_pseudogene	OTTHUMT00000347346.2	G	NM_001145440		72277881	-1	no_errors	ENST00000437915	ensembl	human	known	70_37	rna	SNP	0.847	A
USP34	9736	genome.wustl.edu	37	2	61436045	61436045	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr2:61436045G>T	ENST00000398571.2	-	70	8984	c.8908C>A	c.(8908-8910)Cta>Ata	p.L2970I	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2970					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTGTCATTAGAATCAATCCT	0.303																																																	0													88.0	86.0	87.0					2																	61436045		1811	4059	5870	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8908C>A	2.37:g.61436045G>T	ENSP00000381577:p.Leu2970Ile		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.L2970I	ENST00000398571.2	37	c.8908	CCDS42686.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.044561|2.044561	0.36085|0.36085	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398571|ENST00000411912	T|.	0.28454|.	1.61|.	6.06|6.06	1.27|1.27	0.21489|0.21489	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46367|0.46367	0.1389|0.1389	L|L	0.27053|0.27053	0.805|0.805	0.46096|0.46096	D|D	0.998864|0.998864	P|.	0.52842|.	0.956|.	D|.	0.65010|.	0.931|.	T|T	0.15093|0.15093	-1.0449|-1.0449	10|5	0.37606|.	T|.	0.19|.	.|.	9.7206|9.7206	0.40300|0.40300	0.3841:0.0:0.6159:0.0|0.3841:0.0:0.6159:0.0	.|.	2970|.	Q70CQ2|.	UBP34_HUMAN|.	I|Y	2818;2970|729	ENSP00000381577:L2970I|.	ENSP00000263989:L2818I|.	L|S	-|-	1|2	2|0	USP34|USP34	61289549|61289549	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.557000|0.557000	0.35523|0.35523	3.639000|3.639000	0.54339|0.54339	-0.039000|-0.039000	0.13602|0.13602	-0.145000|-0.145000	0.13849|0.13849	CTA|TCT	USP34	-	superfamily_ARM-type_fold		0.303	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	G			61436045	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	1.000	T
WBSCR17	64409	genome.wustl.edu	37	7	71177116	71177116	+	Silent	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:71177116G>A	ENST00000333538.5	+	11	2416	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	594	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGACCATTAAGAACTCCATCA	0.642																																																	0													62.0	59.0	60.0					7																	71177116		2203	4300	6503	SO:0001819	synonymous_variant	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1782G>A	7.37:g.71177116G>A			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K594	ENST00000333538.5	37	c.1782	CCDS5540.1	7																																																																																			WBSCR17	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.642	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	G	NM_022479		71177116	+1	no_errors	ENST00000333538	ensembl	human	known	70_37	silent	SNP	1.000	A
WBSCR17	64409	genome.wustl.edu	37	7	71178134	71178134	+	3'UTR	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr7:71178134G>A	ENST00000333538.5	+	0	3434				WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17						protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATATAAATCAGAGTTAATATA	0.527																																																	0																																										SO:0001624	3_prime_UTR_variant	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.*1003G>A	7.37:g.71178134G>A			Q8NFV9|Q9NTA8	RNA	SNP	-	NULL	ENST00000333538.5	37	NULL	CCDS5540.1	7																																																																																			WBSCR17	-	-		0.527	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	G	NM_022479		71178134	+1	no_errors	ENST00000467723	ensembl	human	known	70_37	rna	SNP	1.000	A
WDFY4	57705	genome.wustl.edu	37	10	49951299	49951299	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr10:49951299G>A	ENST00000325239.5	+	11	2192	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	WDFY4_ENST00000413659.2_Missense_Mutation_p.G722E	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	722						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GGCTGTTTTGGAGCCCTGGAG	0.597																																																	0													32.0	31.0	31.0					10																	49951299		692	1591	2283	SO:0001583	missense	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.2165G>A	10.37:g.49951299G>A	ENSP00000320563:p.Gly722Glu		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G722E	ENST00000325239.5	37	c.2165	CCDS44385.1	10	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154870	0.38021	.	.	ENSG00000128815	ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T	0.54479	0.57;1.59	5.04	4.07	0.47477	Armadillo-type fold (1);	.	.	.	.	T	0.48059	0.1479	M	0.68317	2.08	0.24656	N	0.993498	P	0.44734	0.842	B	0.35114	0.196	T	0.50083	-0.8869	8	.	.	.	.	12.845	0.57825	0.0:0.2986:0.7014:0.0	.	722	Q6ZS81	WDFY4_HUMAN	E	731;722;722;722	ENSP00000320563:G722E;ENSP00000403789:G722E	.	G	+	2	0	WDFY4	49621305	0.998000	0.40836	0.929000	0.37066	0.619000	0.37552	3.510000	0.53393	2.350000	0.79820	0.563000	0.77884	GGA	WDFY4	-	superfamily_ARM-type_fold		0.597	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		G	XM_033379		49951299	+1	no_errors	ENST00000325239	ensembl	human	known	70_37	missense	SNP	0.692	A
CFAP44	55779	genome.wustl.edu	37	3	113023888	113023888	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:113023888G>A	ENST00000393845.2	-	31	4936	c.4870C>T	c.(4870-4872)Cac>Tac	p.H1624Y	WDR52_ENST00000308346.6_Missense_Mutation_p.H227Y	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATCACCTGGTGGAGCTTGAGC	0.522																																																	0													67.0	65.0	66.0					3																	113023888		692	1591	2283	SO:0001583	missense	55779																														ENST00000393845.2:c.4870C>T	3.37:g.113023888G>A	ENSP00000377428:p.His1624Tyr			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1624Y	ENST00000393845.2	37	c.4870	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.97|17.97	3.518346|3.518346	0.64634|0.64634	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845;ENST00000308346|ENST00000465636	T;T|.	0.42513|.	0.97;0.97|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.348186|.	0.31809|.	N|.	0.007024|.	T|T	0.74550|0.74550	0.3731|0.3731	M|M	0.72894|0.72894	2.215|2.215	0.36949|0.36949	D|D	0.892765|0.892765	D|.	0.71674|.	0.998|.	D|.	0.80764|.	0.994|.	T|T	0.78788|0.78788	-0.2067|-0.2067	10|5	0.51188|.	T|.	0.08|.	-6.6502|-6.6502	17.2518|17.2518	0.87044|0.87044	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1624|.	Q96MT7-2|.	.|.	Y|L	1624;227|760	ENSP00000377428:H1624Y;ENSP00000311497:H227Y|.	ENSP00000311497:H227Y|.	H|P	-|-	1|2	0|0	WDR52|WDR52	114506578|114506578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.585000|0.585000	0.36419|0.36419	7.262000|7.262000	0.78410|0.78410	2.365000|2.365000	0.80145|0.80145	0.585000|0.585000	0.79938|0.79938	CAC|CCA	WDR52	-	NULL		0.522	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		G			113023888	-1	no_errors	ENST00000393845	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR90	197335	genome.wustl.edu	37	16	711352	711352	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr16:711352C>G	ENST00000293879.4	+	30	3524	c.3524C>G	c.(3523-3525)tCt>tGt	p.S1175C	WDR90_ENST00000549091.1_Missense_Mutation_p.S1175C			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1175										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTCCTGGCCTCTGCCTCGGGC	0.667																																																	0													28.0	34.0	32.0					16																	711352		2166	4247	6413	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3524C>G	16.37:g.711352C>G	ENSP00000293879:p.Ser1175Cys		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1175C	ENST00000293879.4	37	c.3524	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738801	0.69304	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.35605	1.3;3.32	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.071371	0.64402	U	0.000018	T	0.74696	0.3750	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84708	0.0732	10	0.87932	D	0	.	17.8602	0.88779	0.0:1.0:0.0:0.0	.	1175;1175	F8VUX9;Q96KV7	.;WDR90_HUMAN	C	1175	ENSP00000448122:S1175C;ENSP00000293879:S1175C	ENSP00000293879:S1175C	S	+	2	0	WDR90	651353	1.000000	0.71417	0.853000	0.33588	0.073000	0.16967	6.767000	0.74975	2.468000	0.83385	0.555000	0.69702	TCT	WDR90	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.667	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	C	NM_145294		711352	+1	no_errors	ENST00000549091	ensembl	human	novel	70_37	missense	SNP	1.000	G
XXYLT1	152002	genome.wustl.edu	37	3	194947453	194947453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:194947453G>A	ENST00000310380.6	-	2	745	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	XXYLT1_ENST00000429994.1_Nonsense_Mutation_p.Q67*	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	213						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GGCATGATCTGATGCATGGCG	0.547																																																	0													106.0	109.0	108.0					3																	194947453		2075	4199	6274	SO:0001587	stop_gained	152002			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.637C>T	3.37:g.194947453G>A	ENSP00000309640:p.Gln213*		D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Nonsense_Mutation	SNP	pfam_Glyco_trans_8	p.Q213*	ENST00000310380.6	37	c.637	CCDS43188.1	3	.	.	.	.	.	.	.	.	.	.	G	6.726	0.502662	0.12822	.	.	ENSG00000173950	ENST00000310380;ENST00000429994;ENST00000458652	.	.	.	4.61	2.7	0.31948	.	0.422419	0.27631	N	0.018515	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	10.6025	0.45375	0.0:0.1447:0.705:0.1503	.	.	.	.	X	213;67;67	.	ENSP00000309640:Q213X	Q	-	1	0	C3orf21	196428742	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	6.271000	0.72569	0.568000	0.29311	-0.293000	0.09583	CAG	XXYLT1	-	pfam_Glyco_trans_8		0.547	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XXYLT1	HGNC	protein_coding	OTTHUMT00000342290.1	G	NM_152531		194947453	-1	no_errors	ENST00000310380	ensembl	human	known	70_37	nonsense	SNP	1.000	A
YTHDC2	64848	genome.wustl.edu	37	5	112878116	112878116	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr5:112878116G>A	ENST00000161863.4	+	10	1624	c.1411G>A	c.(1411-1413)Gct>Act	p.A471T	YTHDC2_ENST00000515883.1_Missense_Mutation_p.A471T	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	471					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGAAATGGATGCTTGCCTTTC	0.289																																																	0													177.0	177.0	177.0					5																	112878116		2202	4299	6501	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1411G>A	5.37:g.112878116G>A	ENSP00000161863:p.Ala471Thr		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A471T	ENST00000161863.4	37	c.1411	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	9.589	1.125540	0.20959	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.06687	4.28;3.27	5.14	4.27	0.50696	.	0.238237	0.42294	N	0.000738	T	0.05502	0.0145	N	0.22421	0.69	0.31483	N	0.666956	B	0.20988	0.05	B	0.15484	0.013	T	0.20042	-1.0287	10	0.15952	T	0.53	.	9.6604	0.39952	0.0768:0.0:0.7743:0.1489	.	471	Q9H6S0	YTDC2_HUMAN	T	471;471;381	ENSP00000161863:A471T;ENSP00000423101:A471T	ENSP00000161863:A471T	A	+	1	0	YTHDC2	112906015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.604000	0.46274	1.300000	0.44818	0.650000	0.86243	GCT	YTHDC2	-	NULL		0.289	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112878116	+1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	A
ZC3H12C	85463	genome.wustl.edu	37	11	110030027	110030027	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:110030027C>T	ENST00000278590.3	+	4	1011	c.960C>T	c.(958-960)ttC>ttT	p.F320F	ZC3H12C_ENST00000528673.1_Silent_p.F321F|ZC3H12C_ENST00000453089.2_Silent_p.F289F	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	320							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TCCTGGTGTTCACGCCATCCC	0.458																																																	0													49.0	50.0	50.0					11																	110030027		2109	4272	6381	SO:0001819	synonymous_variant	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.960C>T	11.37:g.110030027C>T			B4DI65|B4DR47	Silent	SNP	pfam_RNase_Zc3h12	p.F320	ENST00000278590.3	37	c.960	CCDS44727.1	11																																																																																			ZC3H12C	-	pfam_RNase_Zc3h12		0.458	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	C	NM_033390		110030027	+1	no_errors	ENST00000278590	ensembl	human	known	70_37	silent	SNP	1.000	T
ZCCHC7	84186	genome.wustl.edu	37	9	37120659	37120659	+	Intron	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr9:37120659C>T	ENST00000336755.5	+	1	85				ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_5'UTR|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7							cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GCCCGCGGCTCGGGACCCCTG	0.701																																																	0																																										SO:0001627	intron_variant	84186			AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.-22+39C>T	9.37:g.37120659C>T			B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	RNA	SNP	-	NULL	ENST00000336755.5	37	NULL	CCDS6608.2	9																																																																																			ZCCHC7	-	-		0.701	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC7	HGNC	protein_coding	OTTHUMT00000052453.2	C	NM_032226		37120659	+1	no_errors	ENST00000461038	ensembl	human	known	70_37	rna	SNP	0.123	T
ZDHHC13	54503	genome.wustl.edu	37	11	19197442	19197442	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr11:19197442G>T	ENST00000446113.2	+	17	1925	c.1804G>T	c.(1804-1806)Gat>Tat	p.D602Y	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.D472Y	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	602					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CTGTGTGGTAGATTGGACATC	0.443																																																	0													124.0	119.0	121.0					11																	19197442		1873	4118	5991	SO:0001583	missense	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1804G>T	11.37:g.19197442G>T	ENSP00000400113:p.Asp602Tyr		Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase	p.D602Y	ENST00000446113.2	37	c.1804	CCDS44550.1	11	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551752	0.45487	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.39592	1.07;1.71	5.7	4.8	0.61643	.	0.140236	0.64402	D	0.000007	T	0.64238	0.2580	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68965	-0.5270	10	0.87932	D	0	3.0266	13.9347	0.64017	0.0744:0.0:0.9256:0.0	.	602	Q8IUH4	ZDH13_HUMAN	Y	602;472	ENSP00000400113:D602Y;ENSP00000382288:D472Y	ENSP00000382288:D472Y	D	+	1	0	ZDHHC13	19154018	1.000000	0.71417	0.991000	0.47740	0.201000	0.24016	6.610000	0.74178	1.430000	0.47334	-0.362000	0.07510	GAT	ZDHHC13	-	NULL		0.443	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZDHHC13	HGNC	protein_coding	OTTHUMT00000387821.1	G	NM_019028		19197442	+1	no_errors	ENST00000446113	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFHX4	79776	genome.wustl.edu	37	8	77618006	77618006	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr8:77618006C>T	ENST00000521891.2	+	2	2131	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	ZFHX4_ENST00000455469.2_Silent_p.D561D|ZFHX4_ENST00000050961.6_Silent_p.D561D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.D561D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTTGCAGACGCAAGTGCCA	0.507										HNSCC(33;0.089)																																							0													51.0	54.0	53.0					8																	77618006		2085	4229	6314	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1683C>T	8.37:g.77618006C>T			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.D561	ENST00000521891.2	37	c.1683	CCDS47878.2	8																																																																																			ZFHX4	-	NULL		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77618006	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	silent	SNP	0.403	T
ZIK1	284307	genome.wustl.edu	37	19	58101681	58101681	+	Missense_Mutation	SNP	C	C	T	rs199973825		TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:58101681C>T	ENST00000597850.1	+	4	717	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.R113C|ZIK1_ENST00000536878.2_Missense_Mutation_p.R155C	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAAGCCCTTTCGCAAATGGGA	0.502																																																	0													75.0	69.0	71.0					19																	58101681		2203	4300	6503	SO:0001583	missense	284307			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.502C>T	19.37:g.58101681C>T	ENSP00000472867:p.Arg168Cys		O43339|Q3SY51|Q3SY53	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.R168C	ENST00000597850.1	37	c.502	CCDS33135.1	19	.	.	.	.	.	.	.	.	.	.	C	5.634	0.301700	0.10678	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05199	3.48	2.97	-5.94	0.02247	.	.	.	.	.	T	0.03827	0.0108	L	0.34521	1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41645	-0.9497	9	0.62326	D	0.03	.	0.6393	0.00807	0.3591:0.2262:0.1073:0.3075	.	155;168	F5H435;Q3SY52	.;ZIK1_HUMAN	C	155;149;168	ENSP00000438487:R155C	ENSP00000303820:R168C	R	+	1	0	ZIK1	62793493	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.821000	0.00096	-2.320000	0.00642	-1.319000	0.01295	CGC	ZIK1	-	NULL		0.502	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZIK1	HGNC	protein_coding	OTTHUMT00000466791.1	C	NM_001010879		58101681	+1	no_errors	ENST00000597850	ensembl	human	known	70_37	missense	SNP	0.000	T
ZBTB21	49854	genome.wustl.edu	37	21	43411540	43411540	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr21:43411540C>T	ENST00000310826.5	-	3	2848	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	ZBTB21_ENST00000398499.1_Missense_Mutation_p.E889K|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E889K|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E688K	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	889					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TCGGGTGCCTCTTCTTCAGCC	0.542																																																	0													61.0	66.0	65.0					21																	43411540		2203	4300	6503	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2665G>A	21.37:g.43411540C>T	ENSP00000308759:p.Glu889Lys		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E889K	ENST00000310826.5	37	c.2665	CCDS13678.1	21	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028746	0.35797	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.07908	3.43;3.15;3.15;3.15	5.86	5.86	0.93980	.	0.154521	0.43110	D	0.000610	T	0.13756	0.0333	L	0.55481	1.735	0.48452	D	0.999651	P;B	0.41848	0.763;0.181	B;B	0.42361	0.385;0.101	T	0.05869	-1.0859	10	0.20519	T	0.43	-12.1249	20.1996	0.98256	0.0:1.0:0.0:0.0	.	688;889	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	K	688;889;889;889	ENSP00000381517:E688K;ENSP00000308759:E889K;ENSP00000381512:E889K;ENSP00000381523:E889K	ENSP00000308759:E889K	E	-	1	0	ZNF295	42284609	1.000000	0.71417	0.158000	0.22627	0.081000	0.17604	7.233000	0.78125	2.776000	0.95493	0.650000	0.86243	GAG	ZNF295	-	NULL		0.542	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF295	HGNC	protein_coding	OTTHUMT00000195308.1	C	NM_020727		43411540	-1	no_errors	ENST00000310826	ensembl	human	known	70_37	missense	SNP	0.947	T
ZNF318	24149	genome.wustl.edu	37	6	43305622	43305622	+	Silent	SNP	G	G	C			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr6:43305622G>C	ENST00000361428.2	-	10	6191	c.6114C>G	c.(6112-6114)gtC>gtG	p.V2038V	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2038					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTGACACAAGACAGTTGGGG	0.473																																																	0													92.0	84.0	87.0					6																	43305622		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6114C>G	6.37:g.43305622G>C			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	smart_Znf_U1	p.V2038	ENST00000361428.2	37	c.6114	CCDS4895.2	6																																																																																			ZNF318	-	NULL		0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	G	NM_014345		43305622	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	silent	SNP	0.002	C
ZNF35	7584	genome.wustl.edu	37	3	44700920	44700920	+	Silent	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr3:44700920C>T	ENST00000396056.2	+	4	1300	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Silent_p.I195I|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	355					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACCAGAGGATCCACACTGGGG	0.463																																																	0													49.0	55.0	53.0					3																	44700920		2203	4300	6503	SO:0001819	synonymous_variant	7584			X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.1065C>T	3.37:g.44700920C>T			B2RBU6|Q53Y54|Q96D01	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I355	ENST00000396056.2	37	c.1065	CCDS2718.2	3																																																																																			ZNF35	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF35	HGNC	protein_coding	OTTHUMT00000256749.4	C	NM_003420		44700920	+1	no_errors	ENST00000396056	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF780A	284323	genome.wustl.edu	37	19	40580980	40580980	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:40580980G>A	ENST00000595687.2	-	6	1578	c.1369C>T	c.(1369-1371)Cat>Tat	p.H457Y	ZNF780A_ENST00000340963.5_Missense_Mutation_p.H457Y|ZNF780A_ENST00000594395.1_Missense_Mutation_p.H458Y|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.H458Y|ZNF780A_ENST00000450241.2_Missense_Mutation_p.H423Y	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	457					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(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTTGGCAATGATATCTAAAG	0.408																																																	0													163.0	154.0	157.0					19																	40580980		2203	4300	6503	SO:0001583	missense	284323			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1369C>T	19.37:g.40580980G>A	ENSP00000472189:p.His457Tyr		E9PB48|Q6ZN87	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.H458Y	ENST00000595687.2	37	c.1372	CCDS33026.2	19	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977952	0.34942	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	D;T;T	0.86769	-2.17;1.93;1.93	1.93	-1.32	0.09201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80037	0.4550	N	0.12920	0.275	0.09310	N	1	D;D	0.65815	0.995;0.977	P;P	0.61477	0.889;0.722	T	0.69632	-0.5093	9	0.02654	T	1	.	6.7044	0.23242	0.0:0.0:0.3127:0.6872	.	458;457	E9PB48;O75290	.;Z780A_HUMAN	Y	457;458;457	ENSP00000387705:H457Y;ENSP00000400997:H458Y;ENSP00000341507:H457Y	ENSP00000341507:H457Y	H	-	1	0	ZNF780A	45272820	0.000000	0.05858	0.002000	0.10522	0.063000	0.16089	-0.409000	0.07160	0.063000	0.16370	0.313000	0.20887	CAT	ZNF780A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	G	NM_001010880		40580980	-1	no_errors	ENST00000455521	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF667	63934	genome.wustl.edu	37	19	56953204	56953204	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr19:56953204C>T	ENST00000504904.3	-	7	1879	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.R515K|ZNF667_ENST00000292069.6_Missense_Mutation_p.R387K			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTATTGCATCTGTATAGTTT	0.353																																																	0													68.0	72.0	70.0					19																	56953204		2203	4300	6503	SO:0001583	missense	63934				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1160G>A	19.37:g.56953204C>T	ENSP00000439402:p.Arg387Lys		B2RMS6|B9EK36|Q6B093|Q9H807	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.R515K	ENST00000504904.3	37	c.1544	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	C	1.193	-0.634748	0.03584	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.39229	1.09;2.41;2.41	5.05	-5.97	0.02227	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.107710	0.07041	N	0.830154	T	0.12305	0.0299	N	0.00801	-1.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38373	-0.9664	10	0.14252	T	0.57	-2.2849	10.4388	0.44452	0.0:0.1689:0.1153:0.7158	.	515;387	E7EPS0;Q5HYK9	.;ZN667_HUMAN	K	515;387;387;169	ENSP00000344699:R515K;ENSP00000439402:R387K;ENSP00000292069:R387K	ENSP00000292069:R387K	R	-	2	0	ZNF667	61645016	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.661000	0.01972	-0.944000	0.03686	-0.948000	0.02665	AGA	ZNF667	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	C	NM_022103		56953204	-1	no_errors	ENST00000342634	ensembl	human	known	70_37	missense	SNP	0.000	T
ZSCAN2	54993	genome.wustl.edu	37	15	85165835	85165835	+	3'UTR	SNP	C	C	T			TCGA-EK-A3GM-01A-11D-A20U-09	TCGA-EK-A3GM-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80d48e67-84ee-4674-ad3c-8fd52f9755a2	23c04bee-2928-4d86-9d31-0e46da21cb24	g.chr15:85165835C>T	ENST00000448803.2	+	0	2701				ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Silent_p.L202L|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_3'UTR	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		TTCTCCAGTTCTGAGTCACCC	0.507																																																	0																																										SO:0001624	3_prime_UTR_variant	54993			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.*564C>T	15.37:g.85165835C>T			A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	p.L202	ENST00000448803.2	37	c.604	CCDS10329.2	15																																																																																			ZSCAN2	-	NULL		0.507	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	HGNC	protein_coding	OTTHUMT00000396956.1	C	NM_017894		85165835	+1	no_errors	ENST00000538076	ensembl	human	putative	70_37	silent	SNP	0.000	T
